GFAP_HUMAN
ID GFAP_HUMAN Reviewed; 432 AA.
AC P14136; A7REI1; B2RD44; D3DX59; E9PAX3; Q53H98; Q5D055; Q6ZQS3; Q7Z5J6;
AC Q7Z5J7; Q96KS4; Q96P18; Q9UFD0;
DT 01-JAN-1990, integrated into UniProtKB/Swiss-Prot.
DT 01-JAN-1990, sequence version 1.
DT 03-AUG-2022, entry version 226.
DE RecName: Full=Glial fibrillary acidic protein;
DE Short=GFAP;
GN Name=GFAP;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=2740350; DOI=10.1073/pnas.86.13.5178;
RA Reeves S.A., Helman L.J., Allison A., Israel M.A.;
RT "Molecular cloning and primary structure of human glial fibrillary acidic
RT protein.";
RL Proc. Natl. Acad. Sci. U.S.A. 86:5178-5182(1989).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=2163003; DOI=10.1016/0169-328x(90)90078-r;
RA Brenner M., Lampel K., Nakatani Y., Mill J., Banner C., Mearow K.,
RA Dohadwala M., Lipsky R., Freese E.;
RT "Characterization of human cDNA and genomic clones for glial fibrillary
RT acidic protein.";
RL Brain Res. Mol. Brain Res. 7:277-286(1990).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RX PubMed=1847665;
RA Bongcam-Rudloff E., Nister M., Betsholtz C., Wang J.-L., Stenman G.,
RA Huebner K., Croce C.M., Westermark B.;
RT "Human glial fibrillary acidic protein: complementary DNA cloning,
RT chromosome localization, and messenger RNA expression in human glioma cell
RT lines of various phenotypes.";
RL Cancer Res. 51:1553-1560(1991).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=1636374; DOI=10.1007/bf00299404;
RA Kumanishi T., Usui H., Ichikawa T., Nishiyama A., Katagiri T., Abe S.,
RA Yoshida Y., Washiyama K., Kuwano R., Sakimura K.;
RT "Human glial fibrillary acidic protein (GFAP): molecular cloning of the
RT complete cDNA sequence and chromosomal localization (chromosome 17) of the
RT GFAP gene.";
RL Acta Neuropathol. 83:569-578(1992).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT ASN-295.
RX PubMed=9693047; DOI=10.1006/geno.1998.5360;
RA Isaacs A., Baker M., Wavrant-De Vrieze F., Hutton M.;
RT "Determination of the gene structure of human GFAP and absence of coding
RT region mutations associated with frontotemporal dementia with parkinsonism
RT linked to chromosome 17.";
RL Genomics 51:152-154(1998).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Han C., Zhang B., Zhou Y., Peng X., Yuan J., Qiang B.;
RL Submitted (SEP-2001) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain, and Thalamus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RA Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y.,
RA Tanaka A., Yokoyama S.;
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Kidney;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [10]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [11]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [12]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [13]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1-76.
RX PubMed=2349237; DOI=10.1073/pnas.87.11.4289;
RA Nakatani Y., Brenner M., Freese E.;
RT "An RNA polymerase II promoter containing sequences upstream and downstream
RT from the RNA startpoint that direct initiation of transcription from the
RT same site.";
RL Proc. Natl. Acad. Sci. U.S.A. 87:4289-4293(1990).
RN [14]
RP PROTEIN SEQUENCE OF 13-29; 50-63; 96-105; 112-121; 163-173; 189-198;
RP 261-270; 288-300; 331-367 AND 377-390, AND IDENTIFICATION BY MASS
RP SPECTROMETRY.
RC TISSUE=Fetal brain cortex;
RA Lubec G., Chen W.-Q., Sun Y.;
RL Submitted (DEC-2008) to UniProtKB.
RN [15]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 352-417.
RX PubMed=2780570; DOI=10.1073/pnas.86.18.7260;
RA Duguid J.R., Bohmont C.W., Liu N.G., Tourtellotte W.W.;
RT "Changes in brain gene expression shared by scrapie and Alzheimer
RT disease.";
RL Proc. Natl. Acad. Sci. U.S.A. 86:7260-7264(1989).
RN [16]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 377-432 (ISOFORM 3).
RX PubMed=17203480; DOI=10.1002/glia.20475;
RA Blechingberg J., Holm I.E., Nielsen K.B., Jensen T.H., Joergensen A.L.,
RA Nielsen A.L.;
RT "Identification and characterization of GFAPkappa, a novel glial fibrillary
RT acidic protein isoform.";
RL Glia 55:497-507(2007).
RN [17]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 391-432 (ISOFORM 2), SUBCELLULAR LOCATION,
RP AND INTERACTION WITH PSEN1.
RC TISSUE=Fetal brain;
RX PubMed=12058025; DOI=10.1074/jbc.m112121200;
RA Nielsen A.L., Holm I.E., Johansen M., Bonven B., Jorgensen P.,
RA Jorgensen A.L.;
RT "A new splice variant of glial fibrillary acidic protein GFAPepsilon,
RT interacts with the presenilin proteins.";
RL J. Biol. Chem. 277:29983-29991(2002).
RN [18]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 391-432 (ISOFORM 2), AND VARIANTS.
RC TISSUE=Blood;
RX PubMed=12837269; DOI=10.1016/s0888-7543(03)00106-x;
RA Singh R., Nielsen A.L., Johansen M.G., Jorgensen A.L.;
RT "Genetic polymorphism and sequence evolution of an alternatively spliced
RT exon of the glial fibrillary acidic protein gene, GFAP.";
RL Genomics 82:185-193(2003).
RN [19]
RP PHOSPHORYLATION.
RX PubMed=9175763; DOI=10.1006/bbrc.1997.6669;
RA Matsuzawa K., Kosako H., Inagaki N., Shibata H., Mukai H., Ono Y.,
RA Amano M., Kaibuchi K., Matsuura Y., Azuma I., Inagaki M.;
RT "Domain-specific phosphorylation of vimentin and glial fibrillary acidic
RT protein by PKN.";
RL Biochem. Biophys. Res. Commun. 234:621-625(1997).
RN [20]
RP PHOSPHORYLATION AT THR-7; SER-13 AND SER-38.
RX PubMed=9099667; DOI=10.1074/jbc.272.16.10333;
RA Kosako H., Amano M., Yanagida M., Tanabe K., Nishi Y., Kaibuchi K.,
RA Inagaki M.;
RT "Phosphorylation of glial fibrillary acidic protein at the same sites by
RT cleavage furrow kinase and Rho-associated kinase.";
RL J. Biol. Chem. 272:10333-10336(1997).
RN [21]
RP PHOSPHORYLATION AT THR-7; SER-13 AND SER-38.
RX PubMed=12686604; DOI=10.1091/mbc.e02-09-0612;
RA Kawajiri A., Yasui Y., Goto H., Tatsuka M., Takahashi M., Nagata K.,
RA Inagaki M.;
RT "Functional significance of the specific sites phosphorylated in desmin at
RT cleavage furrow: Aurora-B may phosphorylate and regulate type III
RT intermediate filaments during cytokinesis coordinatedly with Rho-kinase.";
RL Mol. Biol. Cell 14:1489-1500(2003).
RN [22]
RP CITRULLINATION AT ARG-30; ARG-36; ARG-270; ARG-406 AND ARG-416.
RX PubMed=23828821; DOI=10.1002/pmic.201300064;
RA Jin Z., Fu Z., Yang J., Troncosco J., Everett A.D., Van Eyk J.E.;
RT "Identification and Characterization of citrulline-modified brain proteins
RT by combining HCD and CID fragmentation.";
RL Proteomics 13:2682-2691(2013).
RN [23]
RP INVOLVEMENT IN ALXDRD, VARIANTS ALXDRD CYS-79; HIS-79; CYS-239; HIS-239;
RP PRO-258 AND TRP-416, AND VARIANTS LEU-47 AND ASN-295.
RX PubMed=11138011; DOI=10.1038/83679;
RA Brenner M., Johnson A.B., Boespflug-Tanguy O., Rodriguez D., Goldman J.E.,
RA Messing A.;
RT "Mutations in GFAP, encoding glial fibrillary acidic protein, are
RT associated with Alexander disease.";
RL Nat. Genet. 27:117-120(2001).
RN [24]
RP VARIANTS ALXDRD PHE-76; TYR-77; HIS-79; CYS-88; SER-88; CYS-239 AND
RP HIS-239.
RX PubMed=11567214; DOI=10.1086/323799;
RA Rodriguez D., Gauthier F., Bertini E., Bugiani M., Brenner M., N'guyen S.,
RA Goizet C., Gelot A., Surtees R., Pedespan J.M., Hernandorena X.,
RA Troncoso M., Uziel G., Messing A., Ponsot G., Pham-Dinh D., Dautigny A.,
RA Boespflug-Tanguy O.;
RT "Infantile Alexander disease: spectrum of GFAP mutations and genotype-
RT phenotype correlation.";
RL Am. J. Hum. Genet. 69:1134-1140(2001).
RN [25]
RP VARIANT ALXDRD VAL-244.
RX PubMed=11595337; DOI=10.1016/s0304-3940(01)02139-5;
RA Aoki Y., Haginoya K., Munakata M., Yokoyama H., Nishio T., Togashi N.,
RA Ito T., Suzuki Y., Kure S., Iinuma K., Brenner M., Matsubara Y.;
RT "A novel mutation in glial fibrillary acidic protein gene in a patient with
RT Alexander disease.";
RL Neurosci. Lett. 312:71-74(2001).
RN [26]
RP VARIANTS ALXDRD ARG-73; GLY-79; CYS-79; HIS-79; CYS-88; CYS-239; ASP-242;
RP LYS-373 AND TRP-416.
RX PubMed=12034785; DOI=10.1212/wnl.58.10.1494;
RA Gorospe J.R., Naidu S., Johnson A.B., Puri V., Raymond G.V., Jenkins S.D.,
RA Pedersen R.C., Lewis D., Knowles P., Fernandez R., De Vivo D.,
RA van der Knaap M.S., Messing A., Brenner M., Hoffman E.P.;
RT "Molecular findings in symptomatic and pre-symptomatic Alexander disease
RT patients.";
RL Neurology 58:1494-1500(2002).
RN [27]
RP VARIANT ALXDRD ASP-362.
RX PubMed=12034796; DOI=10.1212/wnl.58.10.1541;
RA Sawaishi Y., Yano T., Takaku I., Takada G.;
RT "Juvenile Alexander disease with a novel mutation in glial fibrillary
RT acidic protein gene.";
RL Neurology 58:1541-1543(2002).
RN [28]
RP VARIANT ALXDRD GLU-78.
RX PubMed=12975300; DOI=10.1001/archneur.60.9.1307;
RA Stumpf E., Masson H., Duquette A., Berthelet F., McNabb J., Lortie A.,
RA Lesage J., Montplaisir J., Brais B., Cossette P.;
RT "Adult Alexander disease with autosomal dominant transmission: a distinct
RT entity caused by mutation in the glial fibrillary acid protein gene.";
RL Arch. Neurol. 60:1307-1312(2003).
RN [29]
RP VARIANT ALXDRD LEU-79.
RX PubMed=12581808; DOI=10.1016/s0387-7604(02)00167-5;
RA Shiroma N., Kanazawa N., Kato Z., Shimozawa N., Imamura A., Ito M.,
RA Ohtani K., Oka A., Wakabayashi K., Iai M., Sugai K., Sasaki M., Kaga M.,
RA Ohta T., Tsujino S.;
RT "Molecular genetic study in Japanese patients with Alexander disease: a
RT novel mutation, R79L.";
RL Brain Dev. 25:116-121(2003).
RN [30]
RP VARIANT GLN-223.
RX PubMed=12944715; DOI=10.1159/000072507;
RA Brockmann K., Meins M., Taubert A., Trappe R., Grond M., Hanefeld F.;
RT "A novel GFAP mutation and disseminated white matter lesions: adult
RT Alexander disease?";
RL Eur. Neurol. 50:100-105(2003).
RN [31]
RP VARIANT ALXDRD PRO-90.
RX PubMed=15030911; DOI=10.1016/s0387-7604(03)00132-3;
RA Suzuki Y., Kanazawa N., Takenaka J., Okumura A., Negoro T., Tsujino S.;
RT "A case of infantile Alexander disease with a milder phenotype and a novel
RT GFAP mutation, L90P.";
RL Brain Dev. 26:206-208(2004).
RN [32]
RP VARIANTS LEU-47; ILE-115; ASN-157 AND GLN-223, VARIANTS ALXDRD GLN-63;
RP THR-73; PHE-76; VAL-76; SER-77; CYS-79; CYS-88; PRO-97; LYS-207; GLN-207;
RP LYS-210; PRO-235; CYS-239; HIS-239; PRO-239; VAL-244; GLY-253; GLU-279;
RP PRO-352; VAL-359; PRO-364; HIS-366; LYS-373; GLN-373; GLY-374 AND TRP-416,
RP CHARACTERIZATION OF VARIANTS ALXDRD GLN-63; LYS-210; VAL-244 AND GLY-253,
RP AND CHARACTERIZATION OF VARIANT ILE-115.
RX PubMed=15732097; DOI=10.1002/ana.20406;
RA Li R., Johnson A.B., Salomons G., Goldman J.E., Naidu S., Quinlan R.,
RA Cree B., Ruyle S.Z., Banwell B., D'Hooghe M., Siebert J.R., Rolf C.M.,
RA Cox H., Reddy A., Gutierrez-Solana L.G., Collins A., Weller R.O.,
RA Messing A., van der Knaap M.S., Brenner M.;
RT "Glial fibrillary acidic protein mutations in infantile, juvenile, and
RT adult forms of Alexander disease.";
RL Ann. Neurol. 57:310-326(2005).
RN [33]
RP VARIANT ALXDRD LEU-239.
RX PubMed=17043438; DOI=10.3346/jkms.2006.21.5.954;
RA Lee J.M., Kim A.S., Lee S.J., Cho S.M., Lee D.S., Choi S.M., Kim D.K.,
RA Ki C.S., Kim J.W.;
RT "A case of infantile Alexander disease accompanied by infantile spasms
RT diagnosed by DNA analysis.";
RL J. Korean Med. Sci. 21:954-957(2006).
RN [34]
RP VARIANT ALXDRD PRO-267.
RX PubMed=17805552; DOI=10.1007/s00401-007-0292-8;
RA Hinttala R., Karttunen V., Karttunen A., Herva R., Uusimaa J., Remes A.M.;
RT "Alexander disease with occipital predominance and a novel c.799G>C
RT mutation in the GFAP gene.";
RL Acta Neuropathol. 114:543-545(2007).
RN [35]
RP VARIANTS ALXDRD TRP-70; GLN-70; LYS-73; SER-77; CYS-79; PRO-79; CYS-88;
RP HIS-239; PRO-239; PRO-359 AND TRP-416.
RX PubMed=17894839; DOI=10.1111/j.1399-0004.2007.00869.x;
RA Caroli F., Biancheri R., Seri M., Rossi A., Pessagno A., Bugiani M.,
RA Corsolini F., Savasta S., Romano S., Antonelli C., Romano A., Pareyson D.,
RA Gambero P., Uziel G., Ravazzolo R., Ceccherini I., Filocamo M.;
RT "GFAP mutations and polymorphisms in 13 unrelated Italian patients affected
RT by Alexander disease.";
RL Clin. Genet. 72:427-433(2007).
RN [36]
RP VARIANT ALXDRD THR-74.
RX PubMed=17934883; DOI=10.1007/s00415-007-0557-0;
RA Ohnari K., Yamano M., Uozumi T., Hashimoto T., Tsuji S., Nakagawa M.;
RT "An adult form of Alexander disease: a novel mutation in glial fibrillary
RT acidic protein.";
RL J. Neurol. 254:1390-1394(2007).
RN [37]
RP VARIANTS ALXDRD HIS-83 AND CYS-88.
RX PubMed=18079314; DOI=10.1177/0883073807308691;
RA Ye W., Qiang G., Jingmin W., Yanling Y., Xiru W., Yuwu J.;
RT "Clinical and genetic study in Chinese patients with Alexander disease.";
RL J. Child Neurol. 23:173-177(2008).
RN [38]
RP VARIANTS ALXDRD GLY-330 AND LYS-332.
RX PubMed=18004641; DOI=10.1007/s00415-007-0654-0;
RA Balbi P., Seri M., Ceccherini I., Uggetti C., Casale R., Fundaro C.,
RA Caroli F., Santoro L.;
RT "Adult-onset Alexander disease: report on a family.";
RL J. Neurol. 255:24-30(2008).
RN [39]
RP VARIANT ALXDRD CYS-257, AND CHARACTERIZATION OF VARIANT ALXDRD CYS-257.
RX PubMed=17960815; DOI=10.1002/mds.21774;
RA Howard K.L., Hall D.A., Moon M., Agarwal P., Newman E., Brenner M.;
RT "Adult-onset Alexander disease with progressive ataxia and palatal
RT tremor.";
RL Mov. Disord. 23:118-122(2008).
RN [40]
RP VARIANT ALXDRD PRO-101.
RX PubMed=19412928; DOI=10.1002/mds.22556;
RA Kaneko H., Hirose M., Katada S., Takahashi T., Naruse S., Tsuchiya M.,
RA Yoshida T., Nakagawa M., Onodera O., Nishizawa M., Ikeuchi T.;
RT "Novel GFAP mutation in patient with adult-onset Alexander disease
RT presenting with spastic ataxia.";
RL Mov. Disord. 24:1393-1395(2009).
RN [41]
RP VARIANT ALXDRD LEU-276.
RX PubMed=20359319; DOI=10.1186/1471-2377-10-21;
RA Namekawa M., Takiyama Y., Honda J., Shimazaki H., Sakoe K., Nakano I.;
RT "Adult-onset Alexander disease with typical 'tadpole' brainstem atrophy and
RT unusual bilateral basal ganglia involvement: a case report and review of
RT the literature.";
RL BMC Neurol. 10:21-21(2010).
RN [42]
RP VARIANTS ALXDRD GLN-66; LYS-72; GLU-86; THR-236; GLN-371; VAL-371 AND
RP GLY-376.
RX PubMed=21917775; DOI=10.1212/wnl.0b013e3182309f72;
RA Prust M., Wang J., Morizono H., Messing A., Brenner M., Gordon E.,
RA Hartka T., Sokohl A., Schiffmann R., Gordish-Dressman H., Albin R.,
RA Amartino H., Brockman K., Dinopoulos A., Dotti M.T., Fain D., Fernandez R.,
RA Ferreira J., Fleming J., Gill D., Griebel M., Heilstedt H., Kaplan P.,
RA Lewis D., Nakagawa M., Pedersen R., Reddy A., Sawaishi Y., Schneider M.,
RA Sherr E., Takiyama Y., Wakabayashi K., Gorospe J.R., Vanderver A.;
RT "GFAP mutations, age at onset, and clinical subtypes in Alexander
RT disease.";
RL Neurology 77:1287-1294(2011).
RN [43]
RP VARIANTS ALXDRD PHE-76; LYS-77; LEU-79; HIS-79; CYS-79; CYS-88; SER-88;
RP CYS-239; HIS-239; ASP-373; GLN-374 AND PHE-385.
RX PubMed=23364391; DOI=10.1038/jhg.2012.152;
RA Zang L., Wang J., Jiang Y., Gu Q., Gao Z., Yang Y., Xiao J., Wu Y.;
RT "Follow-up study of 22 Chinese children with Alexander disease and analysis
RT of parental origin of de novo GFAP mutations.";
RL J. Hum. Genet. 58:183-188(2013).
RN [44]
RP VARIANT ALXDRD ASN-78.
RX PubMed=23743246; DOI=10.1016/j.jns.2013.05.019;
RA Wada Y., Yanagihara C., Nishimura Y., Namekawa M.;
RT "Familial adult-onset Alexander disease with a novel mutation (D78N) in the
RT glial fibrillary acidic protein gene with unusual bilateral basal ganglia
RT involvement.";
RL J. Neurol. Sci. 331:161-164(2013).
RN [45]
RP VARIANT ALXDRD TRP-416.
RX PubMed=24742911; DOI=10.1016/j.ejpn.2014.03.009;
RA Nishri D., Edvardson S., Lev D., Leshinsky-Silver E., Ben-Sira L.,
RA Henneke M., Lerman-Sagie T., Blumkin L.;
RT "Diagnosis by whole exome sequencing of atypical infantile onset Alexander
RT disease masquerading as a mitochondrial disorder.";
RL Eur. J. Paediatr. Neurol. 18:495-501(2014).
CC -!- FUNCTION: GFAP, a class-III intermediate filament, is a cell-specific
CC marker that, during the development of the central nervous system,
CC distinguishes astrocytes from other glial cells.
CC -!- SUBUNIT: Interacts with SYNM. {ECO:0000250|UniProtKB:P03995}.
CC -!- SUBUNIT: [Isoform 2]: Interacts with PSEN1 (via N-terminus).
CC {ECO:0000269|PubMed:12058025}.
CC -!- INTERACTION:
CC P14136; Q9NYB9-2: ABI2; NbExp=6; IntAct=EBI-744302, EBI-11096309;
CC P14136; Q6H8Q1-8: ABLIM2; NbExp=3; IntAct=EBI-744302, EBI-16436655;
CC P14136; P00352: ALDH1A1; NbExp=3; IntAct=EBI-744302, EBI-752170;
CC P14136; P63010-2: AP2B1; NbExp=3; IntAct=EBI-744302, EBI-11529439;
CC P14136; Q06481-5: APLP2; NbExp=3; IntAct=EBI-744302, EBI-25646567;
CC P14136; Q8N6T3-3: ARFGAP1; NbExp=3; IntAct=EBI-744302, EBI-10694449;
CC P14136; Q9Y575-3: ASB3; NbExp=3; IntAct=EBI-744302, EBI-14199987;
CC P14136; Q96FT7-4: ASIC4; NbExp=3; IntAct=EBI-744302, EBI-9089489;
CC P14136; P21281: ATP6V1B2; NbExp=3; IntAct=EBI-744302, EBI-4290814;
CC P14136; Q8TBE0: BAHD1; NbExp=3; IntAct=EBI-744302, EBI-742750;
CC P14136; Q9UQB8-6: BAIAP2; NbExp=3; IntAct=EBI-744302, EBI-9092016;
CC P14136; O75934: BCAS2; NbExp=3; IntAct=EBI-744302, EBI-1050106;
CC P14136; Q13490: BIRC2; NbExp=3; IntAct=EBI-744302, EBI-514538;
CC P14136; Q8WUW1: BRK1; NbExp=3; IntAct=EBI-744302, EBI-2837444;
CC P14136; Q5SZD1: C6orf141; NbExp=3; IntAct=EBI-744302, EBI-10697767;
CC P14136; P62158: CALM3; NbExp=3; IntAct=EBI-744302, EBI-397435;
CC P14136; Q9BWT7: CARD10; NbExp=3; IntAct=EBI-744302, EBI-3866279;
CC P14136; P29466-3: CASP1; NbExp=3; IntAct=EBI-744302, EBI-12248206;
CC P14136; Q96HB5: CCDC120; NbExp=3; IntAct=EBI-744302, EBI-744556;
CC P14136; A0A1B0GWI1: CCDC196; NbExp=3; IntAct=EBI-744302, EBI-10181422;
CC P14136; Q2TAC2-2: CCDC57; NbExp=3; IntAct=EBI-744302, EBI-10961624;
CC P14136; P24863: CCNC; NbExp=3; IntAct=EBI-744302, EBI-395261;
CC P14136; Q9UJX2: CDC23; NbExp=3; IntAct=EBI-744302, EBI-396137;
CC P14136; Q16543: CDC37; NbExp=3; IntAct=EBI-744302, EBI-295634;
CC P14136; Q8IYR0: CFAP206; NbExp=3; IntAct=EBI-744302, EBI-749051;
CC P14136; Q8IUI8: CRLF3; NbExp=3; IntAct=EBI-744302, EBI-2872414;
CC P14136; Q8WUE5: CT55; NbExp=3; IntAct=EBI-744302, EBI-6873363;
CC P14136; P35222: CTNNB1; NbExp=3; IntAct=EBI-744302, EBI-491549;
CC P14136; Q2TBE0: CWF19L2; NbExp=6; IntAct=EBI-744302, EBI-5453285;
CC P14136; Q9UBU7: DBF4; NbExp=3; IntAct=EBI-744302, EBI-372690;
CC P14136; Q5TDH0-2: DDI2; NbExp=3; IntAct=EBI-744302, EBI-25858598;
CC P14136; P35638: DDIT3; NbExp=3; IntAct=EBI-744302, EBI-742651;
CC P14136; P17661: DES; NbExp=6; IntAct=EBI-744302, EBI-1055572;
CC P14136; Q14689-3: DIP2A; NbExp=3; IntAct=EBI-744302, EBI-25858204;
CC P14136; Q96EY1-3: DNAJA3; NbExp=3; IntAct=EBI-744302, EBI-11526226;
CC P14136; Q92782-2: DPF1; NbExp=3; IntAct=EBI-744302, EBI-23669343;
CC P14136; Q6UXG2-3: ELAPOR1; NbExp=3; IntAct=EBI-744302, EBI-12920100;
CC P14136; Q9H0I2: ENKD1; NbExp=3; IntAct=EBI-744302, EBI-744099;
CC P14136; Q7L775: EPM2AIP1; NbExp=3; IntAct=EBI-744302, EBI-6255981;
CC P14136; Q13216-2: ERCC8; NbExp=3; IntAct=EBI-744302, EBI-16466949;
CC P14136; Q96DF8: ESS2; NbExp=3; IntAct=EBI-744302, EBI-3928124;
CC P14136; Q9UBQ6: EXTL2; NbExp=3; IntAct=EBI-744302, EBI-21506125;
CC P14136; Q9Y247: FAM50B; NbExp=3; IntAct=EBI-744302, EBI-742802;
CC P14136; O15287: FANCG; NbExp=3; IntAct=EBI-744302, EBI-81610;
CC P14136; Q53R41: FASTKD1; NbExp=3; IntAct=EBI-744302, EBI-3957005;
CC P14136; Q9Y261-2: FOXA2; NbExp=3; IntAct=EBI-744302, EBI-25830360;
CC P14136; P06241-3: FYN; NbExp=3; IntAct=EBI-744302, EBI-10691738;
CC P14136; P14136: GFAP; NbExp=7; IntAct=EBI-744302, EBI-744302;
CC P14136; Q08379: GOLGA2; NbExp=9; IntAct=EBI-744302, EBI-618309;
CC P14136; Q13322-4: GRB10; NbExp=3; IntAct=EBI-744302, EBI-12353035;
CC P14136; Q71DI3: H3C15; NbExp=3; IntAct=EBI-744302, EBI-750650;
CC P14136; Q8N7T0: hCG_1820408; NbExp=3; IntAct=EBI-744302, EBI-25858908;
CC P14136; P61978: HNRNPK; NbExp=3; IntAct=EBI-744302, EBI-304185;
CC P14136; P42858: HTT; NbExp=10; IntAct=EBI-744302, EBI-466029;
CC P14136; Q12891: HYAL2; NbExp=3; IntAct=EBI-744302, EBI-2806068;
CC P14136; Q8NDH6-2: ICA1L; NbExp=3; IntAct=EBI-744302, EBI-12141931;
CC P14136; Q8IY31-2: IFT20; NbExp=3; IntAct=EBI-744302, EBI-11742277;
CC P14136; Q14005-2: IL16; NbExp=3; IntAct=EBI-744302, EBI-17178971;
CC P14136; Q8NA54: IQUB; NbExp=3; IntAct=EBI-744302, EBI-10220600;
CC P14136; Q92613: JADE3; NbExp=3; IntAct=EBI-744302, EBI-10278909;
CC P14136; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-744302, EBI-1055254;
CC P14136; Q6ZU52: KIAA0408; NbExp=5; IntAct=EBI-744302, EBI-739493;
CC P14136; Q5T5P2-6: KIAA1217; NbExp=3; IntAct=EBI-744302, EBI-10188326;
CC P14136; Q9BVG8-5: KIFC3; NbExp=3; IntAct=EBI-744302, EBI-14069005;
CC P14136; Q9Y2M5: KLHL20; NbExp=3; IntAct=EBI-744302, EBI-714379;
CC P14136; A1A4E9: KRT13; NbExp=4; IntAct=EBI-744302, EBI-10171552;
CC P14136; P13646: KRT13; NbExp=6; IntAct=EBI-744302, EBI-1223876;
CC P14136; P19012: KRT15; NbExp=9; IntAct=EBI-744302, EBI-739566;
CC P14136; P08727: KRT19; NbExp=9; IntAct=EBI-744302, EBI-742756;
CC P14136; Q7Z3Y8: KRT27; NbExp=3; IntAct=EBI-744302, EBI-3044087;
CC P14136; Q15323: KRT31; NbExp=3; IntAct=EBI-744302, EBI-948001;
CC P14136; Q14525: KRT33B; NbExp=3; IntAct=EBI-744302, EBI-1049638;
CC P14136; Q6A163: KRT39; NbExp=3; IntAct=EBI-744302, EBI-11958242;
CC P14136; Q14847-2: LASP1; NbExp=3; IntAct=EBI-744302, EBI-9088686;
CC P14136; Q96BZ8: LENG1; NbExp=3; IntAct=EBI-744302, EBI-726510;
CC P14136; Q96PV6: LENG8; NbExp=3; IntAct=EBI-744302, EBI-739546;
CC P14136; Q8TCE9: LGALS14; NbExp=7; IntAct=EBI-744302, EBI-10274069;
CC P14136; Q6DKI2: LGALS9C; NbExp=3; IntAct=EBI-744302, EBI-9088829;
CC P14136; P25791: LMO2; NbExp=3; IntAct=EBI-744302, EBI-739696;
CC P14136; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-744302, EBI-739832;
CC P14136; Q1L5Z9: LONRF2; NbExp=3; IntAct=EBI-744302, EBI-2510853;
CC P14136; Q14693: LPIN1; NbExp=3; IntAct=EBI-744302, EBI-5278370;
CC P14136; Q9BX40-2: LSM14B; NbExp=3; IntAct=EBI-744302, EBI-19133880;
CC P14136; Q13387-4: MAPK8IP2; NbExp=3; IntAct=EBI-744302, EBI-12345753;
CC P14136; P45984: MAPK9; NbExp=3; IntAct=EBI-744302, EBI-713568;
CC P14136; Q96EZ8: MCRS1; NbExp=3; IntAct=EBI-744302, EBI-348259;
CC P14136; Q8N6F8: METTL27; NbExp=3; IntAct=EBI-744302, EBI-8487781;
CC P14136; O94851: MICAL2; NbExp=3; IntAct=EBI-744302, EBI-2804835;
CC P14136; A4FUJ8: MKL1; NbExp=3; IntAct=EBI-744302, EBI-21250407;
CC P14136; Q15049: MLC1; NbExp=3; IntAct=EBI-744302, EBI-8475277;
CC P14136; P00540: MOS; NbExp=3; IntAct=EBI-744302, EBI-1757866;
CC P14136; Q9Y3D2: MSRB2; NbExp=3; IntAct=EBI-744302, EBI-9092052;
CC P14136; Q9Y483-4: MTF2; NbExp=3; IntAct=EBI-744302, EBI-10698053;
CC P14136; A2RUH7: MYBPHL; NbExp=6; IntAct=EBI-744302, EBI-9088235;
CC P14136; Q96A32: MYLPF; NbExp=3; IntAct=EBI-744302, EBI-1390771;
CC P14136; Q6N069-4: NAA16; NbExp=3; IntAct=EBI-744302, EBI-10699337;
CC P14136; Q99457: NAP1L3; NbExp=3; IntAct=EBI-744302, EBI-8645631;
CC P14136; O76041: NEBL; NbExp=3; IntAct=EBI-744302, EBI-2880203;
CC P14136; I6L9F6: NEFL; NbExp=4; IntAct=EBI-744302, EBI-10178578;
CC P14136; P07196: NEFL; NbExp=9; IntAct=EBI-744302, EBI-475646;
CC P14136; Q9HC98-4: NEK6; NbExp=5; IntAct=EBI-744302, EBI-11750983;
CC P14136; Q8NI38: NFKBID; NbExp=3; IntAct=EBI-744302, EBI-10271199;
CC P14136; Q12986: NFX1; NbExp=3; IntAct=EBI-744302, EBI-2130062;
CC P14136; Q9Y239: NOD1; NbExp=3; IntAct=EBI-744302, EBI-1051262;
CC P14136; Q6X4W1-6: NSMF; NbExp=3; IntAct=EBI-744302, EBI-25842707;
CC P14136; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-744302, EBI-741158;
CC P14136; O43809: NUDT21; NbExp=3; IntAct=EBI-744302, EBI-355720;
CC P14136; Q9UBU9: NXF1; NbExp=7; IntAct=EBI-744302, EBI-398874;
CC P14136; Q3SX64: ODF3L2; NbExp=3; IntAct=EBI-744302, EBI-6660184;
CC P14136; Q96FW1: OTUB1; NbExp=3; IntAct=EBI-744302, EBI-1058491;
CC P14136; Q6GQQ9-2: OTUD7B; NbExp=3; IntAct=EBI-744302, EBI-25830200;
CC P14136; Q16549: PCSK7; NbExp=3; IntAct=EBI-744302, EBI-8059854;
CC P14136; O00151: PDLIM1; NbExp=4; IntAct=EBI-744302, EBI-724897;
CC P14136; Q96HC4: PDLIM5; NbExp=3; IntAct=EBI-744302, EBI-751267;
CC P14136; Q5T2W1: PDZK1; NbExp=4; IntAct=EBI-744302, EBI-349819;
CC P14136; P16284: PECAM1; NbExp=3; IntAct=EBI-744302, EBI-716404;
CC P14136; O15534: PER1; NbExp=3; IntAct=EBI-744302, EBI-2557276;
CC P14136; Q96FX8: PERP; NbExp=3; IntAct=EBI-744302, EBI-17183069;
CC P14136; Q5T6S3: PHF19; NbExp=3; IntAct=EBI-744302, EBI-2339674;
CC P14136; O75928: PIAS2; NbExp=3; IntAct=EBI-744302, EBI-348555;
CC P14136; O75928-2: PIAS2; NbExp=6; IntAct=EBI-744302, EBI-348567;
CC P14136; Q8WWB5: PIH1D2; NbExp=4; IntAct=EBI-744302, EBI-10232538;
CC P14136; P27986-2: PIK3R1; NbExp=3; IntAct=EBI-744302, EBI-9090282;
CC P14136; Q9Y446: PKP3; NbExp=3; IntAct=EBI-744302, EBI-2880227;
CC P14136; Q6P1J6-2: PLB1; NbExp=3; IntAct=EBI-744302, EBI-10694821;
CC P14136; Q96PV4: PNMA5; NbExp=3; IntAct=EBI-744302, EBI-10171633;
CC P14136; P00491: PNP; NbExp=3; IntAct=EBI-744302, EBI-712238;
CC P14136; Q96I34: PPP1R16A; NbExp=3; IntAct=EBI-744302, EBI-710402;
CC P14136; Q96T49: PPP1R16B; NbExp=3; IntAct=EBI-744302, EBI-10293968;
CC P14136; Q6NYC8: PPP1R18; NbExp=3; IntAct=EBI-744302, EBI-2557469;
CC P14136; Q6ZMI0-5: PPP1R21; NbExp=3; IntAct=EBI-744302, EBI-25835994;
CC P14136; P57729: RAB38; NbExp=3; IntAct=EBI-744302, EBI-6552718;
CC P14136; Q96QF0-7: RAB3IP; NbExp=3; IntAct=EBI-744302, EBI-11984839;
CC P14136; P20339: RAB5A; NbExp=3; IntAct=EBI-744302, EBI-399437;
CC P14136; Q9NS23-4: RASSF1; NbExp=3; IntAct=EBI-744302, EBI-438710;
CC P14136; P50749: RASSF2; NbExp=3; IntAct=EBI-744302, EBI-960081;
CC P14136; Q8WWW0-2: RASSF5; NbExp=3; IntAct=EBI-744302, EBI-960502;
CC P14136; Q8NHQ8-2: RASSF8; NbExp=3; IntAct=EBI-744302, EBI-10976415;
CC P14136; Q8TCX5: RHPN1; NbExp=3; IntAct=EBI-744302, EBI-746325;
CC P14136; P35398: RORA; NbExp=3; IntAct=EBI-744302, EBI-748689;
CC P14136; Q6ZNE9: RUFY4; NbExp=3; IntAct=EBI-744302, EBI-10181525;
CC P14136; Q8N488: RYBP; NbExp=3; IntAct=EBI-744302, EBI-752324;
CC P14136; Q8N6K7-2: SAMD3; NbExp=3; IntAct=EBI-744302, EBI-11528848;
CC P14136; Q8IYX7: SAXO1; NbExp=3; IntAct=EBI-744302, EBI-3957636;
CC P14136; Q9BY12-3: SCAPER; NbExp=3; IntAct=EBI-744302, EBI-25837959;
CC P14136; Q96HL8: SH3YL1; NbExp=4; IntAct=EBI-744302, EBI-722667;
CC P14136; O95391: SLU7; NbExp=3; IntAct=EBI-744302, EBI-750559;
CC P14136; Q12824: SMARCB1; NbExp=4; IntAct=EBI-744302, EBI-358419;
CC P14136; Q96GM5: SMARCD1; NbExp=3; IntAct=EBI-744302, EBI-358489;
CC P14136; Q96DI7: SNRNP40; NbExp=3; IntAct=EBI-744302, EBI-538492;
CC P14136; Q13573: SNW1; NbExp=3; IntAct=EBI-744302, EBI-632715;
CC P14136; Q9UM82: SPATA2; NbExp=3; IntAct=EBI-744302, EBI-744066;
CC P14136; Q8NHS9: SPATA22; NbExp=3; IntAct=EBI-744302, EBI-7067260;
CC P14136; Q8IUW3: SPATA2L; NbExp=3; IntAct=EBI-744302, EBI-2510414;
CC P14136; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-744302, EBI-5235340;
CC P14136; Q7Z698: SPRED2; NbExp=3; IntAct=EBI-744302, EBI-7082156;
CC P14136; Q9NRP7: STK36; NbExp=3; IntAct=EBI-744302, EBI-863797;
CC P14136; Q9BR01-2: SULT4A1; NbExp=3; IntAct=EBI-744302, EBI-25831443;
CC P14136; Q9H7C4: SYNC; NbExp=3; IntAct=EBI-744302, EBI-11285923;
CC P14136; Q5VWN6: TASOR2; NbExp=3; IntAct=EBI-744302, EBI-745958;
CC P14136; Q8IYX1: TBC1D21; NbExp=6; IntAct=EBI-744302, EBI-12018146;
CC P14136; Q9NU19: TBC1D22B; NbExp=3; IntAct=EBI-744302, EBI-8787464;
CC P14136; O15273: TCAP; NbExp=3; IntAct=EBI-744302, EBI-954089;
CC P14136; Q9UBB9: TFIP11; NbExp=3; IntAct=EBI-744302, EBI-1105213;
CC P14136; Q9NVV9: THAP1; NbExp=3; IntAct=EBI-744302, EBI-741515;
CC P14136; Q08117: TLE5; NbExp=3; IntAct=EBI-744302, EBI-717810;
CC P14136; Q96B77: TMEM186; NbExp=3; IntAct=EBI-744302, EBI-9089409;
CC P14136; Q13829: TNFAIP1; NbExp=3; IntAct=EBI-744302, EBI-2505861;
CC P14136; O60784-2: TOM1; NbExp=3; IntAct=EBI-744302, EBI-12117154;
CC P14136; Q05BL1: TP53BP2; NbExp=3; IntAct=EBI-744302, EBI-11952721;
CC P14136; P14373: TRIM27; NbExp=6; IntAct=EBI-744302, EBI-719493;
CC P14136; Q86WT6-2: TRIM69; NbExp=3; IntAct=EBI-744302, EBI-11525489;
CC P14136; Q99598: TSNAX; NbExp=3; IntAct=EBI-744302, EBI-742638;
CC P14136; Q5VYS8-5: TUT7; NbExp=3; IntAct=EBI-744302, EBI-9088812;
CC P14136; P10599: TXN; NbExp=3; IntAct=EBI-744302, EBI-594644;
CC P14136; P57075-2: UBASH3A; NbExp=3; IntAct=EBI-744302, EBI-7353612;
CC P14136; Q7KZS0: UBE2I; NbExp=3; IntAct=EBI-744302, EBI-10180829;
CC P14136; O00124: UBXN8; NbExp=3; IntAct=EBI-744302, EBI-1993850;
CC P14136; Q14694: USP10; NbExp=3; IntAct=EBI-744302, EBI-2510389;
CC P14136; P08670: VIM; NbExp=7; IntAct=EBI-744302, EBI-353844;
CC P14136; P58304: VSX2; NbExp=3; IntAct=EBI-744302, EBI-6427899;
CC P14136; Q9GZS3: WDR61; NbExp=3; IntAct=EBI-744302, EBI-358545;
CC P14136; Q9BRX9: WDR83; NbExp=3; IntAct=EBI-744302, EBI-7705033;
CC P14136; O76024: WFS1; NbExp=3; IntAct=EBI-744302, EBI-720609;
CC P14136; Q9NZC7-5: WWOX; NbExp=3; IntAct=EBI-744302, EBI-12040603;
CC P14136; P07947: YES1; NbExp=3; IntAct=EBI-744302, EBI-515331;
CC P14136; Q53FD0: ZC2HC1C; NbExp=3; IntAct=EBI-744302, EBI-740767;
CC P14136; Q53FD0-2: ZC2HC1C; NbExp=3; IntAct=EBI-744302, EBI-14104088;
CC P14136; Q8WW38: ZFPM2; NbExp=3; IntAct=EBI-744302, EBI-947213;
CC P14136; Q9H4I2-2: ZHX3; NbExp=3; IntAct=EBI-744302, EBI-10693326;
CC P14136; Q9BRR0: ZKSCAN3; NbExp=3; IntAct=EBI-744302, EBI-1965777;
CC P14136; Q9Y2L8: ZKSCAN5; NbExp=3; IntAct=EBI-744302, EBI-2876965;
CC P14136; P17023: ZNF19; NbExp=3; IntAct=EBI-744302, EBI-12884200;
CC P14136; P17024: ZNF20; NbExp=3; IntAct=EBI-744302, EBI-717634;
CC P14136; Q9UNY5: ZNF232; NbExp=3; IntAct=EBI-744302, EBI-749023;
CC P14136; Q9NR11-2: ZNF302; NbExp=3; IntAct=EBI-744302, EBI-12988373;
CC P14136; Q86VK4-3: ZNF410; NbExp=3; IntAct=EBI-744302, EBI-11741890;
CC P14136; Q9C0F3: ZNF436; NbExp=3; IntAct=EBI-744302, EBI-8489702;
CC P14136; Q8N0Y2-2: ZNF444; NbExp=3; IntAct=EBI-744302, EBI-12010736;
CC P14136; Q96MN9-2: ZNF488; NbExp=3; IntAct=EBI-744302, EBI-25831733;
CC P14136; O60304: ZNF500; NbExp=3; IntAct=EBI-744302, EBI-18234077;
CC P14136; Q7Z3I7: ZNF572; NbExp=3; IntAct=EBI-744302, EBI-10172590;
CC P14136; Q9P0T4: ZNF581; NbExp=3; IntAct=EBI-744302, EBI-745520;
CC P14136; Q8N720: ZNF655; NbExp=3; IntAct=EBI-744302, EBI-625509;
CC P14136; Q6NX45: ZNF774; NbExp=9; IntAct=EBI-744302, EBI-10251462;
CC P14136; P10073: ZSCAN22; NbExp=3; IntAct=EBI-744302, EBI-10178224;
CC P14136; O15535: ZSCAN9; NbExp=3; IntAct=EBI-744302, EBI-751531;
CC P14136; Q86V28; NbExp=3; IntAct=EBI-744302, EBI-10259496;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12058025}.
CC Note=Associated with intermediate filaments.
CC {ECO:0000269|PubMed:12058025}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Comment=Isoforms differ in the C-terminal region which is encoded by
CC alternative exons.;
CC Name=1; Synonyms=GFAP alpha {ECO:0000303|PubMed:17203480};
CC IsoId=P14136-1; Sequence=Displayed;
CC Name=2; Synonyms=GFAP epsilon {ECO:0000303|PubMed:12058025,
CC ECO:0000303|PubMed:12837269};
CC IsoId=P14136-3; Sequence=VSP_017052;
CC Name=3; Synonyms=GFAP kappa {ECO:0000303|PubMed:17203480};
CC IsoId=P14136-2; Sequence=VSP_017051;
CC -!- TISSUE SPECIFICITY: Expressed in cells lacking fibronectin.
CC {ECO:0000269|PubMed:1847665}.
CC -!- PTM: Phosphorylated by PKN1. {ECO:0000269|PubMed:12686604,
CC ECO:0000269|PubMed:9099667, ECO:0000269|PubMed:9175763}.
CC -!- DISEASE: Alexander disease (ALXDRD) [MIM:203450]: A rare disorder of
CC the central nervous system. The most common form affects infants and
CC young children, and is characterized by progressive failure of central
CC myelination, usually leading to death within the first decade. Infants
CC with Alexander disease develop a leukodystrophy with macrocephaly,
CC seizures, and psychomotor retardation. Patients with juvenile or adult
CC forms typically experience ataxia, bulbar signs and spasticity, and a
CC more slowly progressive course. Histologically, Alexander disease is
CC characterized by Rosenthal fibers, homogeneous eosinophilic inclusions
CC in astrocytes. {ECO:0000269|PubMed:11138011,
CC ECO:0000269|PubMed:11567214, ECO:0000269|PubMed:11595337,
CC ECO:0000269|PubMed:12034785, ECO:0000269|PubMed:12034796,
CC ECO:0000269|PubMed:12581808, ECO:0000269|PubMed:12944715,
CC ECO:0000269|PubMed:12975300, ECO:0000269|PubMed:15030911,
CC ECO:0000269|PubMed:15732097, ECO:0000269|PubMed:17043438,
CC ECO:0000269|PubMed:17805552, ECO:0000269|PubMed:17894839,
CC ECO:0000269|PubMed:17934883, ECO:0000269|PubMed:17960815,
CC ECO:0000269|PubMed:18004641, ECO:0000269|PubMed:18079314,
CC ECO:0000269|PubMed:19412928, ECO:0000269|PubMed:20359319,
CC ECO:0000269|PubMed:21917775, ECO:0000269|PubMed:23364391,
CC ECO:0000269|PubMed:23743246, ECO:0000269|PubMed:24742911}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the intermediate filament family.
CC {ECO:0000255|PROSITE-ProRule:PRU01188}.
CC -!- WEB RESOURCE: Name=Human Intermediate Filament Mutation Database;
CC URL="http://www.interfil.org";
CC -!- WEB RESOURCE: Name=Wikipedia; Note=GFAP entry;
CC URL="https://en.wikipedia.org/wiki/Glial_fibrillary_acidic_protein";
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; J04569; AAA52528.1; -; mRNA.
DR EMBL; S40719; AAB22581.1; -; mRNA.
DR EMBL; AF419299; AAL16662.1; -; mRNA.
DR EMBL; AK128790; BAC87610.1; -; mRNA.
DR EMBL; AK222683; BAD96403.1; -; mRNA.
DR EMBL; AK315398; BAG37791.1; -; mRNA.
DR EMBL; AL133013; CAB61354.2; -; Transcribed_RNA.
DR EMBL; AC015936; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471178; EAW51570.1; -; Genomic_DNA.
DR EMBL; CH471178; EAW51571.1; -; Genomic_DNA.
DR EMBL; BC013596; AAH13596.1; -; mRNA.
DR EMBL; BC041765; AAH41765.1; -; mRNA.
DR EMBL; BC062609; AAH62609.1; -; mRNA.
DR EMBL; M26638; AAA52529.1; -; mRNA.
DR EMBL; DQ979832; ABL14186.1; -; mRNA.
DR EMBL; AJ306447; CAC69881.1; -; mRNA.
DR EMBL; AY142187; AAN87903.1; -; Genomic_DNA.
DR EMBL; AY142188; AAN87904.1; -; Genomic_DNA.
DR EMBL; AY142191; AAN87907.1; -; Genomic_DNA.
DR CCDS; CCDS11491.1; -. [P14136-1]
DR CCDS; CCDS45708.1; -. [P14136-3]
DR CCDS; CCDS59296.1; -. [P14136-2]
DR PIR; A32936; A32936.
DR PIR; T42645; T42645.
DR RefSeq; NP_001124491.1; NM_001131019.2. [P14136-3]
DR RefSeq; NP_001229305.1; NM_001242376.1. [P14136-2]
DR RefSeq; NP_002046.1; NM_002055.4. [P14136-1]
DR PDB; 6A9P; X-ray; 2.51 A; A/B/C/D/E/F/G/H=110-213.
DR PDBsum; 6A9P; -.
DR AlphaFoldDB; P14136; -.
DR SMR; P14136; -.
DR BioGRID; 108938; 225.
DR IntAct; P14136; 259.
DR MINT; P14136; -.
DR STRING; 9606.ENSP00000468500; -.
DR GlyGen; P14136; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; P14136; -.
DR PhosphoSitePlus; P14136; -.
DR SwissPalm; P14136; -.
DR BioMuta; GFAP; -.
DR DMDM; 121135; -.
DR REPRODUCTION-2DPAGE; P14136; -.
DR UCD-2DPAGE; P14136; -.
DR EPD; P14136; -.
DR jPOST; P14136; -.
DR MassIVE; P14136; -.
DR MaxQB; P14136; -.
DR PaxDb; P14136; -.
DR PeptideAtlas; P14136; -.
DR PRIDE; P14136; -.
DR ProteomicsDB; 19099; -.
DR ProteomicsDB; 53022; -. [P14136-1]
DR ProteomicsDB; 53023; -. [P14136-2]
DR ProteomicsDB; 53024; -. [P14136-3]
DR ABCD; P14136; 10 sequenced antibodies.
DR Antibodypedia; 3505; 3052 antibodies from 61 providers.
DR DNASU; 2670; -.
DR Ensembl; ENST00000435360.8; ENSP00000403962.1; ENSG00000131095.14. [P14136-3]
DR Ensembl; ENST00000588735.3; ENSP00000466598.2; ENSG00000131095.14. [P14136-1]
DR Ensembl; ENST00000638281.1; ENSP00000491088.1; ENSG00000131095.14. [P14136-2]
DR GeneID; 2670; -.
DR KEGG; hsa:2670; -.
DR MANE-Select; ENST00000588735.3; ENSP00000466598.2; NM_002055.5; NP_002046.1.
DR UCSC; uc002ihq.3; human. [P14136-1]
DR CTD; 2670; -.
DR DisGeNET; 2670; -.
DR GeneCards; GFAP; -.
DR GeneReviews; GFAP; -.
DR HGNC; HGNC:4235; GFAP.
DR HPA; ENSG00000131095; Tissue enriched (brain).
DR MalaCards; GFAP; -.
DR MIM; 137780; gene.
DR MIM; 203450; phenotype.
DR neXtProt; NX_P14136; -.
DR OpenTargets; ENSG00000131095; -.
DR Orphanet; 363717; Alexander disease type I.
DR Orphanet; 363722; Alexander disease type II.
DR PharmGKB; PA28647; -.
DR VEuPathDB; HostDB:ENSG00000131095; -.
DR eggNOG; ENOG502RKU6; Eukaryota.
DR GeneTree; ENSGT00940000159539; -.
DR HOGENOM; CLU_012560_7_4_1; -.
DR InParanoid; P14136; -.
DR OMA; QIHVEMD; -.
DR OrthoDB; 655109at2759; -.
DR PhylomeDB; P14136; -.
DR TreeFam; TF330122; -.
DR PathwayCommons; P14136; -.
DR Reactome; R-HSA-1251985; Nuclear signaling by ERBB4.
DR Reactome; R-HSA-9613829; Chaperone Mediated Autophagy.
DR SignaLink; P14136; -.
DR SIGNOR; P14136; -.
DR BioGRID-ORCS; 2670; 7 hits in 1061 CRISPR screens.
DR ChiTaRS; GFAP; human.
DR GeneWiki; Glial_fibrillary_acidic_protein; -.
DR GenomeRNAi; 2670; -.
DR Pharos; P14136; Tbio.
DR PRO; PR:P14136; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; P14136; protein.
DR Bgee; ENSG00000131095; Expressed in dorsal motor nucleus of vagus nerve and 140 other tissues.
DR ExpressionAtlas; P14136; baseline and differential.
DR Genevisible; P14136; HS.
DR GO; GO:0097450; C:astrocyte end-foot; IEA:Ensembl.
DR GO; GO:0044297; C:cell body; IEA:Ensembl.
DR GO; GO:0042995; C:cell projection; IBA:GO_Central.
DR GO; GO:0005737; C:cytoplasm; IDA:MGI.
DR GO; GO:0098574; C:cytoplasmic side of lysosomal membrane; IEA:Ensembl.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005882; C:intermediate filament; IBA:GO_Central.
DR GO; GO:0045111; C:intermediate filament cytoskeleton; IDA:HPA.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0005178; F:integrin binding; IEA:Ensembl.
DR GO; GO:0019900; F:kinase binding; IEA:Ensembl.
DR GO; GO:0005200; F:structural constituent of cytoskeleton; IBA:GO_Central.
DR GO; GO:0014002; P:astrocyte development; IEA:Ensembl.
DR GO; GO:0060020; P:Bergmann glial cell differentiation; IEA:Ensembl.
DR GO; GO:0070779; P:D-aspartate import across plasma membrane; IEA:Ensembl.
DR GO; GO:0030198; P:extracellular matrix organization; IEA:Ensembl.
DR GO; GO:0010467; P:gene expression; IEA:Ensembl.
DR GO; GO:0045109; P:intermediate filament organization; IDA:UniProtKB.
DR GO; GO:0006886; P:intracellular protein transport; IEA:Ensembl.
DR GO; GO:0060291; P:long-term synaptic potentiation; IEA:Ensembl.
DR GO; GO:0010977; P:negative regulation of neuron projection development; IEA:Ensembl.
DR GO; GO:0031102; P:neuron projection regeneration; IEA:Ensembl.
DR GO; GO:0010625; P:positive regulation of Schwann cell proliferation; IEA:Ensembl.
DR GO; GO:1904714; P:regulation of chaperone-mediated autophagy; ISS:ParkinsonsUK-UCL.
DR GO; GO:0051580; P:regulation of neurotransmitter uptake; IEA:Ensembl.
DR GO; GO:0043254; P:regulation of protein-containing complex assembly; TAS:ParkinsonsUK-UCL.
DR GO; GO:0009611; P:response to wounding; IEA:Ensembl.
DR GO; GO:0014010; P:Schwann cell proliferation; IEA:Ensembl.
DR InterPro; IPR027701; GFAP.
DR InterPro; IPR018039; IF_conserved.
DR InterPro; IPR039008; IF_rod_dom.
DR InterPro; IPR006821; Intermed_filament_DNA-bd.
DR PANTHER; PTHR45652:SF9; PTHR45652:SF9; 1.
DR Pfam; PF00038; Filament; 1.
DR Pfam; PF04732; Filament_head; 1.
DR SMART; SM01391; Filament; 1.
DR PROSITE; PS00226; IF_ROD_1; 1.
DR PROSITE; PS51842; IF_ROD_2; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Citrullination; Coiled coil; Cytoplasm;
KW Direct protein sequencing; Disease variant; Intermediate filament;
KW Leukodystrophy; Methylation; Phosphoprotein; Reference proteome.
FT CHAIN 1..432
FT /note="Glial fibrillary acidic protein"
FT /id="PRO_0000063805"
FT DOMAIN 69..377
FT /note="IF rod"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01188"
FT REGION 1..72
FT /note="Head"
FT REGION 73..104
FT /note="Coil 1A"
FT REGION 105..115
FT /note="Linker 1"
FT REGION 116..214
FT /note="Coil 1B"
FT REGION 215..230
FT /note="Linker 12"
FT REGION 231..252
FT /note="Coil 2A"
FT REGION 253..256
FT /note="Linker 2"
FT REGION 257..377
FT /note="Coil 2B"
FT REGION 378..432
FT /note="Tail"
FT MOD_RES 7
FT /note="Phosphothreonine; by AURKB and ROCK1"
FT /evidence="ECO:0000269|PubMed:12686604,
FT ECO:0000269|PubMed:9099667"
FT MOD_RES 12
FT /note="Omega-N-methylarginine"
FT /evidence="ECO:0000250|UniProtKB:P03995"
FT MOD_RES 13
FT /note="Phosphoserine; by AURKB and ROCK1"
FT /evidence="ECO:0000269|PubMed:12686604,
FT ECO:0000269|PubMed:9099667"
FT MOD_RES 30
FT /note="Citrulline"
FT /evidence="ECO:0000269|PubMed:23828821"
FT MOD_RES 36
FT /note="Citrulline"
FT /evidence="ECO:0000269|PubMed:23828821"
FT MOD_RES 38
FT /note="Phosphoserine; by AURKB and ROCK1"
FT /evidence="ECO:0000269|PubMed:12686604,
FT ECO:0000269|PubMed:9099667"
FT MOD_RES 82
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P47819"
FT MOD_RES 110
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:P47819"
FT MOD_RES 150
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:P47819"
FT MOD_RES 270
FT /note="Citrulline"
FT /evidence="ECO:0000269|PubMed:23828821"
FT MOD_RES 323
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P47819"
FT MOD_RES 383
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:P47819"
FT MOD_RES 385
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P47819"
FT MOD_RES 406
FT /note="Citrulline"
FT /evidence="ECO:0000269|PubMed:23828821"
FT MOD_RES 416
FT /note="Citrulline"
FT /evidence="ECO:0000269|PubMed:23828821"
FT VAR_SEQ 391..432
FT /note="ETSLDTKSVSEGHLKRNIVVKTVEMRDGEVIKESKQEHKDVM -> GGKSTK
FT DGENHKVTRYLKSLTIRVIPIQAHQIVNGTPPARG (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12058025,
FT ECO:0000303|PubMed:14702039"
FT /id="VSP_017052"
FT VAR_SEQ 391..432
FT /note="ETSLDTKSVSEGHLKRNIVVKTVEMRDGEVIKESKQEHKDVM -> GQYSRA
FT SWEGHWSPAPSSRACRLLQTGTEDQGKGIQLSLGAFVTLQRS (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_017051"
FT VARIANT 47
FT /note="P -> L (in dbSNP:rs57474185)"
FT /evidence="ECO:0000269|PubMed:11138011,
FT ECO:0000269|PubMed:15732097"
FT /id="VAR_017464"
FT VARIANT 63
FT /note="K -> Q (in ALXDRD; affects intermediate filaments
FT formation yielding protein aggregates; dbSNP:rs60095124)"
FT /evidence="ECO:0000269|PubMed:15732097"
FT /id="VAR_071517"
FT VARIANT 66
FT /note="R -> Q (in ALXDRD; dbSNP:rs797044569)"
FT /evidence="ECO:0000269|PubMed:21917775"
FT /id="VAR_071518"
FT VARIANT 70
FT /note="R -> Q (in ALXDRD; dbSNP:rs267607510)"
FT /evidence="ECO:0000269|PubMed:17894839"
FT /id="VAR_071519"
FT VARIANT 70
FT /note="R -> W (in ALXDRD; dbSNP:rs60343255)"
FT /evidence="ECO:0000269|PubMed:17894839"
FT /id="VAR_071520"
FT VARIANT 72
FT /note="E -> K (in ALXDRD; dbSNP:rs267607523)"
FT /evidence="ECO:0000269|PubMed:21917775"
FT /id="VAR_071521"
FT VARIANT 73
FT /note="M -> K (in ALXDRD; dbSNP:rs61060395)"
FT /evidence="ECO:0000269|PubMed:17894839"
FT /id="VAR_071522"
FT VARIANT 73
FT /note="M -> R (in ALXDRD; dbSNP:rs61060395)"
FT /evidence="ECO:0000269|PubMed:12034785"
FT /id="VAR_071523"
FT VARIANT 73
FT /note="M -> T (in ALXDRD; dbSNP:rs61060395)"
FT /evidence="ECO:0000269|PubMed:15732097"
FT /id="VAR_071524"
FT VARIANT 74
FT /note="M -> T (in ALXDRD; dbSNP:rs267607504)"
FT /evidence="ECO:0000269|PubMed:17934883"
FT /id="VAR_071525"
FT VARIANT 76
FT /note="L -> F (in ALXDRD; dbSNP:rs57120761)"
FT /evidence="ECO:0000269|PubMed:11567214,
FT ECO:0000269|PubMed:15732097, ECO:0000269|PubMed:23364391"
FT /id="VAR_017465"
FT VARIANT 76
FT /note="L -> V (in ALXDRD; dbSNP:rs57120761)"
FT /evidence="ECO:0000269|PubMed:15732097"
FT /id="VAR_071526"
FT VARIANT 77
FT /note="N -> K (in ALXDRD)"
FT /evidence="ECO:0000269|PubMed:23364391"
FT /id="VAR_071527"
FT VARIANT 77
FT /note="N -> S (in ALXDRD; dbSNP:rs57590980)"
FT /evidence="ECO:0000269|PubMed:15732097,
FT ECO:0000269|PubMed:17894839"
FT /id="VAR_071528"
FT VARIANT 77
FT /note="N -> Y (in ALXDRD; dbSNP:rs58732244)"
FT /evidence="ECO:0000269|PubMed:11567214"
FT /id="VAR_017466"
FT VARIANT 78
FT /note="D -> E (in ALXDRD; adult form; dbSNP:rs121909720)"
FT /evidence="ECO:0000269|PubMed:12975300"
FT /id="VAR_017477"
FT VARIANT 78
FT /note="D -> N (in ALXDRD; dbSNP:rs797044571)"
FT /evidence="ECO:0000269|PubMed:23743246"
FT /id="VAR_071529"
FT VARIANT 79
FT /note="R -> C (in ALXDRD; dbSNP:rs59793293)"
FT /evidence="ECO:0000269|PubMed:11138011,
FT ECO:0000269|PubMed:12034785, ECO:0000269|PubMed:15732097,
FT ECO:0000269|PubMed:17894839, ECO:0000269|PubMed:23364391"
FT /id="VAR_017467"
FT VARIANT 79
FT /note="R -> G (in ALXDRD; dbSNP:rs59793293)"
FT /evidence="ECO:0000269|PubMed:12034785"
FT /id="VAR_071530"
FT VARIANT 79
FT /note="R -> H (in ALXDRD; dbSNP:rs59285727)"
FT /evidence="ECO:0000269|PubMed:11138011,
FT ECO:0000269|PubMed:11567214, ECO:0000269|PubMed:12034785,
FT ECO:0000269|PubMed:23364391"
FT /id="VAR_017468"
FT VARIANT 79
FT /note="R -> L (in ALXDRD; dbSNP:rs59285727)"
FT /evidence="ECO:0000269|PubMed:12581808,
FT ECO:0000269|PubMed:23364391"
FT /id="VAR_071531"
FT VARIANT 79
FT /note="R -> P (in ALXDRD; dbSNP:rs59285727)"
FT /evidence="ECO:0000269|PubMed:17894839"
FT /id="VAR_071532"
FT VARIANT 83
FT /note="Y -> H (in ALXDRD; dbSNP:rs267607506)"
FT /evidence="ECO:0000269|PubMed:18079314"
FT /id="VAR_071533"
FT VARIANT 86
FT /note="K -> E (in ALXDRD; dbSNP:rs797044573)"
FT /evidence="ECO:0000269|PubMed:21917775"
FT /id="VAR_071534"
FT VARIANT 88
FT /note="R -> C (in ALXDRD; dbSNP:rs61622935)"
FT /evidence="ECO:0000269|PubMed:11567214,
FT ECO:0000269|PubMed:12034785, ECO:0000269|PubMed:15732097,
FT ECO:0000269|PubMed:17894839, ECO:0000269|PubMed:18079314,
FT ECO:0000269|PubMed:23364391"
FT /id="VAR_017469"
FT VARIANT 88
FT /note="R -> S (in ALXDRD; dbSNP:rs61622935)"
FT /evidence="ECO:0000269|PubMed:11567214,
FT ECO:0000269|PubMed:23364391"
FT /id="VAR_017470"
FT VARIANT 90
FT /note="L -> P (in ALXDRD; dbSNP:rs59661476)"
FT /evidence="ECO:0000269|PubMed:15030911"
FT /id="VAR_071535"
FT VARIANT 97
FT /note="L -> P (in ALXDRD; dbSNP:rs59568967)"
FT /evidence="ECO:0000269|PubMed:15732097"
FT /id="VAR_071536"
FT VARIANT 101
FT /note="L -> P (in ALXDRD; dbSNP:rs267607516)"
FT /evidence="ECO:0000269|PubMed:19412928"
FT /id="VAR_071537"
FT VARIANT 115
FT /note="V -> I (does not affect intermediate filaments
FT formation; dbSNP:rs56746197)"
FT /evidence="ECO:0000269|PubMed:15732097"
FT /id="VAR_071538"
FT VARIANT 157
FT /note="D -> N (in dbSNP:rs59291670)"
FT /evidence="ECO:0000269|PubMed:15732097"
FT /id="VAR_071539"
FT VARIANT 207
FT /note="E -> K (in ALXDRD; dbSNP:rs267607500)"
FT /evidence="ECO:0000269|PubMed:15732097"
FT /id="VAR_071540"
FT VARIANT 207
FT /note="E -> Q (in ALXDRD; dbSNP:rs267607500)"
FT /evidence="ECO:0000269|PubMed:15732097"
FT /id="VAR_071541"
FT VARIANT 210
FT /note="E -> K (in ALXDRD; affects intermediate filaments
FT formation; dbSNP:rs57661783)"
FT /evidence="ECO:0000269|PubMed:15732097"
FT /id="VAR_071542"
FT VARIANT 223
FT /note="E -> Q (in dbSNP:rs56679084)"
FT /evidence="ECO:0000269|PubMed:12944715,
FT ECO:0000269|PubMed:15732097"
FT /id="VAR_017478"
FT VARIANT 235
FT /note="L -> P (in ALXDRD; dbSNP:rs60269890)"
FT /evidence="ECO:0000269|PubMed:15732097"
FT /id="VAR_071543"
FT VARIANT 236
FT /note="K -> T (in ALXDRD; dbSNP:rs267607525)"
FT /evidence="ECO:0000269|PubMed:21917775"
FT /id="VAR_071544"
FT VARIANT 239
FT /note="R -> C (in ALXDRD; dbSNP:rs58064122)"
FT /evidence="ECO:0000269|PubMed:11138011,
FT ECO:0000269|PubMed:11567214, ECO:0000269|PubMed:12034785,
FT ECO:0000269|PubMed:15732097, ECO:0000269|PubMed:23364391"
FT /id="VAR_017471"
FT VARIANT 239
FT /note="R -> H (in ALXDRD; dbSNP:rs59565950)"
FT /evidence="ECO:0000269|PubMed:11138011,
FT ECO:0000269|PubMed:11567214, ECO:0000269|PubMed:15732097,
FT ECO:0000269|PubMed:17894839, ECO:0000269|PubMed:23364391"
FT /id="VAR_017472"
FT VARIANT 239
FT /note="R -> L (in ALXDRD; dbSNP:rs59565950)"
FT /evidence="ECO:0000269|PubMed:17043438"
FT /id="VAR_071545"
FT VARIANT 239
FT /note="R -> P (in ALXDRD; dbSNP:rs59565950)"
FT /evidence="ECO:0000269|PubMed:15732097,
FT ECO:0000269|PubMed:17894839"
FT /id="VAR_071546"
FT VARIANT 242
FT /note="Y -> D (in ALXDRD; dbSNP:rs60551555)"
FT /evidence="ECO:0000269|PubMed:12034785"
FT /id="VAR_071547"
FT VARIANT 244
FT /note="A -> V (in ALXDRD; unknown pathological
FT significance; does not affect intermediate filaments
FT formation; dbSNP:rs61497286)"
FT /evidence="ECO:0000269|PubMed:11595337,
FT ECO:0000269|PubMed:15732097"
FT /id="VAR_017473"
FT VARIANT 253
FT /note="A -> G (in ALXDRD; affects intermediate filaments
FT formation yielding protein aggregates; dbSNP:rs61726470)"
FT /evidence="ECO:0000269|PubMed:15732097"
FT /id="VAR_071548"
FT VARIANT 257
FT /note="Y -> C (in ALXDRD; impairs filaments formation;
FT dbSNP:rs267607505)"
FT /evidence="ECO:0000269|PubMed:17960815"
FT /id="VAR_071549"
FT VARIANT 258
FT /note="R -> P (in ALXDRD; dbSNP:rs61726468)"
FT /evidence="ECO:0000269|PubMed:11138011"
FT /id="VAR_017474"
FT VARIANT 267
FT /note="A -> P (in ALXDRD; dbSNP:rs797044581)"
FT /evidence="ECO:0000269|PubMed:17805552"
FT /id="VAR_071550"
FT VARIANT 276
FT /note="R -> L (in ALXDRD; dbSNP:rs121909719)"
FT /evidence="ECO:0000269|PubMed:20359319"
FT /id="VAR_071551"
FT VARIANT 279
FT /note="K -> E (in ALXDRD; dbSNP:rs58536923)"
FT /evidence="ECO:0000269|PubMed:15732097"
FT /id="VAR_071552"
FT VARIANT 295
FT /note="D -> N (in dbSNP:rs1126642)"
FT /evidence="ECO:0000269|PubMed:11138011,
FT ECO:0000269|PubMed:9693047"
FT /id="VAR_017479"
FT VARIANT 330
FT /note="R -> G (in ALXDRD; associated with Lys-332;
FT dbSNP:rs267607513)"
FT /evidence="ECO:0000269|PubMed:18004641"
FT /id="VAR_071553"
FT VARIANT 332
FT /note="E -> K (in ALXDRD; associated with Gly-330;
FT dbSNP:rs267607514)"
FT /evidence="ECO:0000269|PubMed:18004641"
FT /id="VAR_071554"
FT VARIANT 352
FT /note="L -> P (in ALXDRD; dbSNP:rs28932769)"
FT /evidence="ECO:0000269|PubMed:15732097"
FT /id="VAR_071555"
FT VARIANT 359
FT /note="L -> P (in ALXDRD; dbSNP:rs267607511)"
FT /evidence="ECO:0000269|PubMed:17894839"
FT /id="VAR_071556"
FT VARIANT 359
FT /note="L -> V (in ALXDRD; dbSNP:rs60825166)"
FT /evidence="ECO:0000269|PubMed:15732097"
FT /id="VAR_071557"
FT VARIANT 362
FT /note="E -> D (in ALXDRD; dbSNP:rs121909718)"
FT /evidence="ECO:0000269|PubMed:12034796"
FT /id="VAR_017475"
FT VARIANT 364
FT /note="A -> P (in ALXDRD; dbSNP:rs58645997)"
FT /evidence="ECO:0000269|PubMed:15732097"
FT /id="VAR_071558"
FT VARIANT 366
FT /note="Y -> H (in ALXDRD; dbSNP:rs58008462)"
FT /evidence="ECO:0000269|PubMed:15732097"
FT /id="VAR_071559"
FT VARIANT 371
FT /note="E -> Q (in ALXDRD; dbSNP:rs267607526)"
FT /evidence="ECO:0000269|PubMed:21917775"
FT /id="VAR_071560"
FT VARIANT 371
FT /note="E -> V (in ALXDRD; dbSNP:rs57815192)"
FT /evidence="ECO:0000269|PubMed:21917775"
FT /id="VAR_071561"
FT VARIANT 373
FT /note="E -> D (in ALXDRD)"
FT /evidence="ECO:0000269|PubMed:23364391"
FT /id="VAR_071562"
FT VARIANT 373
FT /note="E -> K (in ALXDRD; dbSNP:rs58075601)"
FT /evidence="ECO:0000269|PubMed:12034785,
FT ECO:0000269|PubMed:15732097"
FT /id="VAR_071563"
FT VARIANT 373
FT /note="E -> Q (in ALXDRD; dbSNP:rs58075601)"
FT /evidence="ECO:0000269|PubMed:15732097"
FT /id="VAR_071564"
FT VARIANT 374
FT /note="E -> G (in ALXDRD; dbSNP:rs59628143)"
FT /evidence="ECO:0000269|PubMed:15732097"
FT /id="VAR_071565"
FT VARIANT 374
FT /note="E -> Q (in ALXDRD)"
FT /evidence="ECO:0000269|PubMed:23364391"
FT /id="VAR_071566"
FT VARIANT 376
FT /note="R -> G (in ALXDRD; dbSNP:rs267607512)"
FT /evidence="ECO:0000269|PubMed:21917775"
FT /id="VAR_071567"
FT VARIANT 385
FT /note="S -> F (in ALXDRD; dbSNP:rs797044590)"
FT /evidence="ECO:0000269|PubMed:23364391"
FT /id="VAR_071568"
FT VARIANT 416
FT /note="R -> W (in ALXDRD; dbSNP:rs121909717)"
FT /evidence="ECO:0000269|PubMed:11138011,
FT ECO:0000269|PubMed:12034785, ECO:0000269|PubMed:15732097,
FT ECO:0000269|PubMed:17894839, ECO:0000269|PubMed:24742911"
FT /id="VAR_017476"
FT CONFLICT 121
FT /note="R -> P (in Ref. 9; CAB61354)"
FT /evidence="ECO:0000305"
FT CONFLICT 146
FT /note="Q -> H (in Ref. 3)"
FT /evidence="ECO:0000305"
FT CONFLICT 151
FT /note="V -> L (in Ref. 3)"
FT /evidence="ECO:0000305"
FT CONFLICT 155
FT /note="Missing (in Ref. 9; CAB61354)"
FT /evidence="ECO:0000305"
FT CONFLICT 158
FT /note="E -> G (in Ref. 6; AAL16662)"
FT /evidence="ECO:0000305"
FT CONFLICT 160
FT /note="N -> K (in Ref. 3)"
FT /evidence="ECO:0000305"
FT CONFLICT 166
FT /note="E -> D (in Ref. 3)"
FT /evidence="ECO:0000305"
FT CONFLICT 174
FT /note="Q -> QQ (in Ref. 9; CAB61354)"
FT /evidence="ECO:0000305"
FT CONFLICT 258
FT /note="R -> H (in Ref. 3)"
FT /evidence="ECO:0000305"
FT CONFLICT 326
FT /note="E -> V (in Ref. 8; BAD96403)"
FT /evidence="ECO:0000305"
FT CONFLICT 334
FT /note="E -> D (in Ref. 3)"
FT /evidence="ECO:0000305"
FT HELIX 111..210
FT /evidence="ECO:0007829|PDB:6A9P"
FT VARIANT P14136-3:426
FT /note="T -> A (in dbSNP:rs9916491)"
FT /evidence="ECO:0000305"
FT /id="VAR_082837"
FT VARIANT P14136-3:426
FT /note="T -> V (in dbSNP:rs386797323)"
FT /evidence="ECO:0000305"
FT /id="VAR_082838"
SQ SEQUENCE 432 AA; 49880 MW; E6C3B3454C3F1250 CRC64;
MERRRITSAA RRSYVSSGEM MVGGLAPGRR LGPGTRLSLA RMPPPLPTRV DFSLAGALNA
GFKETRASER AEMMELNDRF ASYIEKVRFL EQQNKALAAE LNQLRAKEPT KLADVYQAEL
RELRLRLDQL TANSARLEVE RDNLAQDLAT VRQKLQDETN LRLEAENNLA AYRQEADEAT
LARLDLERKI ESLEEEIRFL RKIHEEEVRE LQEQLARQQV HVELDVAKPD LTAALKEIRT
QYEAMASSNM HEAEEWYRSK FADLTDAAAR NAELLRQAKH EANDYRRQLQ SLTCDLESLR
GTNESLERQM REQEERHVRE AASYQEALAR LEEEGQSLKD EMARHLQEYQ DLLNVKLALD
IEIATYRKLL EGEENRITIP VQTFSNLQIR ETSLDTKSVS EGHLKRNIVV KTVEMRDGEV
IKESKQEHKD VM
