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GORAB_HUMAN
ID   GORAB_HUMAN             Reviewed;         369 AA.
AC   Q5T7V8; Q49A22; Q6P1P9; Q9HAE6; Q9Y350;
DT   17-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT   07-APR-2021, sequence version 2.
DT   03-AUG-2022, entry version 137.
DE   RecName: Full=RAB6-interacting golgin;
DE   AltName: Full=N-terminal kinase-like-binding protein 1;
DE            Short=NTKL-BP1;
DE            Short=NTKL-binding protein 1;
DE            Short=hNTKL-BP1;
DE   AltName: Full=SCY1-like 1-binding protein 1;
DE            Short=SCYL1-BP1;
DE            Short=SCYL1-binding protein 1;
GN   Name=GORAB; Synonyms=NTKLBP1, SCYL1BP1;
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 [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT LYS-295.
RC   TISSUE=Embryo;
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   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16710414; DOI=10.1038/nature04727;
RA   Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA   Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA   Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA   Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA   Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA   Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA   Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA   Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA   Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA   Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA   Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA   Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA   Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA   Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA   Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA   Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA   Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA   Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA   Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA   McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA   Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA   Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA   Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA   Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA   Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA   White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA   Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA   Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA   Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT   "The DNA sequence and biological annotation of human chromosome 1.";
RL   Nature 441:315-321(2006).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC   TISSUE=Pancreas, and Testis;
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   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 174-369 (ISOFORM 1).
RG   The European IMAGE consortium;
RL   Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases.
RN   [5]
RP   INTERACTION WITH RCHY1, AND SUBCELLULAR LOCATION.
RX   PubMed=15781263; DOI=10.1016/j.bbrc.2005.02.156;
RA   Zhang L., Li J., Wang C., Ma Y., Huo K.;
RT   "A new human gene hNTKL-BP1 interacts with hPirh2.";
RL   Biochem. Biophys. Res. Commun. 330:293-297(2005).
RN   [6]
RP   SUBCELLULAR LOCATION, INTERACTION WITH RAB6A, AND INVOLVEMENT IN GERODERMA
RP   OSTEODYSPLASTICUM.
RX   PubMed=18997784; DOI=10.1038/ng.252;
RA   Hennies H.C., Kornak U., Zhang H., Egerer J., Zhang X., Seifert W.,
RA   Kuhnisch J., Budde B., Naetebus M., Brancati F., Wilcox W.R., Mueller D.,
RA   Kaplan P.B., Rajab A., Zampino G., Fodale V., Dallapiccola B., Newman W.,
RA   Metcalfe K., Clayton-Smith J., Tassabehji M., Steinmann B., Barr F.A.,
RA   Nuernberg P., Wieacker P., Mundlos S.;
RT   "Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6
RT   interacting golgin.";
RL   Nat. Genet. 40:1410-1412(2008).
RN   [7]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Cervix carcinoma;
RX   PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA   Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA   Elledge S.J., Gygi S.P.;
RT   "A quantitative atlas of mitotic phosphorylation.";
RL   Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
CC   -!- SUBUNIT: Interacts with SCYL1 (By similarity). Interacts with RCHY1 and
CC       RAB6A/RAB6. {ECO:0000250, ECO:0000269|PubMed:15781263,
CC       ECO:0000269|PubMed:18997784}.
CC   -!- INTERACTION:
CC       Q5T7V8; O95870: ABHD16A; NbExp=3; IntAct=EBI-3917143, EBI-348517;
CC       Q5T7V8; P05090: APOD; NbExp=3; IntAct=EBI-3917143, EBI-715495;
CC       Q5T7V8; Q07817: BCL2L1; NbExp=3; IntAct=EBI-3917143, EBI-78035;
CC       Q5T7V8; Q92843: BCL2L2; NbExp=3; IntAct=EBI-3917143, EBI-707714;
CC       Q5T7V8; Q12982: BNIP2; NbExp=3; IntAct=EBI-3917143, EBI-752094;
CC       Q5T7V8; P60033: CD81; NbExp=3; IntAct=EBI-3917143, EBI-712921;
CC       Q5T7V8; P23141-3: CES1; NbExp=3; IntAct=EBI-3917143, EBI-12360993;
CC       Q5T7V8; Q8N6F1-2: CLDN19; NbExp=3; IntAct=EBI-3917143, EBI-12256978;
CC       Q5T7V8; Q9NWW5: CLN6; NbExp=3; IntAct=EBI-3917143, EBI-6165897;
CC       Q5T7V8; Q96FZ5: CMTM7; NbExp=3; IntAct=EBI-3917143, EBI-2807956;
CC       Q5T7V8; Q6PI25: CNIH2; NbExp=3; IntAct=EBI-3917143, EBI-12815321;
CC       Q5T7V8; Q07325: CXCL9; NbExp=3; IntAct=EBI-3917143, EBI-3911467;
CC       Q5T7V8; P50402: EMD; NbExp=3; IntAct=EBI-3917143, EBI-489887;
CC       Q5T7V8; Q96F15: GIMAP5; NbExp=3; IntAct=EBI-3917143, EBI-6166686;
CC       Q5T7V8; P11215: ITGAM; NbExp=3; IntAct=EBI-3917143, EBI-2568251;
CC       Q5T7V8; Q9UBY5: LPAR3; NbExp=3; IntAct=EBI-3917143, EBI-12033434;
CC       Q5T7V8; Q7Z4F1: LRP10; NbExp=3; IntAct=EBI-3917143, EBI-2830349;
CC       Q5T7V8; Q00987: MDM2; NbExp=6; IntAct=EBI-3917143, EBI-389668;
CC       Q5T7V8; P11836: MS4A1; NbExp=3; IntAct=EBI-3917143, EBI-2808234;
CC       Q5T7V8; Q8IXM6: NRM; NbExp=3; IntAct=EBI-3917143, EBI-10262547;
CC       Q5T7V8; P09466: PAEP; NbExp=3; IntAct=EBI-3917143, EBI-465167;
CC       Q5T7V8; Q8IY26: PLPP6; NbExp=3; IntAct=EBI-3917143, EBI-11721828;
CC       Q5T7V8; Q59EV6: PPGB; NbExp=3; IntAct=EBI-3917143, EBI-14210385;
CC       Q5T7V8; P43378: PTPN9; NbExp=3; IntAct=EBI-3917143, EBI-742898;
CC       Q5T7V8; O75396: SEC22B; NbExp=3; IntAct=EBI-3917143, EBI-1058865;
CC       Q5T7V8; Q9Y6D0: SELENOK; NbExp=3; IntAct=EBI-3917143, EBI-9679163;
CC       Q5T7V8; O75971-2: SNAPC5; NbExp=3; IntAct=EBI-3917143, EBI-12004298;
CC       Q5T7V8; Q86Y82: STX12; NbExp=3; IntAct=EBI-3917143, EBI-2691717;
CC       Q5T7V8; Q9UNK0: STX8; NbExp=3; IntAct=EBI-3917143, EBI-727240;
CC       Q5T7V8; P17152: TMEM11; NbExp=3; IntAct=EBI-3917143, EBI-723946;
CC       Q5T7V8; A0PK00: TMEM120B; NbExp=3; IntAct=EBI-3917143, EBI-10171534;
CC       Q5T7V8; Q5BJH2-2: TMEM128; NbExp=3; IntAct=EBI-3917143, EBI-10694905;
CC       Q5T7V8; Q9P0S9: TMEM14C; NbExp=3; IntAct=EBI-3917143, EBI-2339195;
CC       Q5T7V8; Q14656: TMEM187; NbExp=3; IntAct=EBI-3917143, EBI-13046724;
CC       Q5T7V8; Q96HH6: TMEM19; NbExp=3; IntAct=EBI-3917143, EBI-741829;
CC       Q5T7V8; Q8NBD8: TMEM229B; NbExp=3; IntAct=EBI-3917143, EBI-12195227;
CC       Q5T7V8; Q9H2L4: TMEM60; NbExp=3; IntAct=EBI-3917143, EBI-2852148;
CC       Q5T7V8; Q8N2M4: TMEM86A; NbExp=3; IntAct=EBI-3917143, EBI-12015604;
CC       Q5T7V8; Q9Y228: TRAF3IP3; NbExp=3; IntAct=EBI-3917143, EBI-765817;
CC       Q5T7V8; Q86UF1: TSPAN33; NbExp=3; IntAct=EBI-3917143, EBI-12045841;
CC       Q5T7V8; Q5BVD1: TTMP; NbExp=3; IntAct=EBI-3917143, EBI-10243654;
CC       Q5T7V8; Q15836: VAMP3; NbExp=3; IntAct=EBI-3917143, EBI-722343;
CC       Q5T7V8; O95183: VAMP5; NbExp=3; IntAct=EBI-3917143, EBI-10191195;
CC       Q5T7V8; Q9BQB6: VKORC1; NbExp=3; IntAct=EBI-3917143, EBI-6256462;
CC       Q5T7V8; Q8N0U8: VKORC1L1; NbExp=3; IntAct=EBI-3917143, EBI-11337915;
CC       Q5T7V8; Q14508: WFDC2; NbExp=3; IntAct=EBI-3917143, EBI-723529;
CC       Q5T7V8; O95159: ZFPL1; NbExp=3; IntAct=EBI-3917143, EBI-718439;
CC   -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15781263}. Golgi
CC       apparatus {ECO:0000269|PubMed:18997784}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q5T7V8-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q5T7V8-2; Sequence=VSP_020978;
CC   -!- DISEASE: Geroderma osteodysplasticum (GO) [MIM:231070]: A rare
CC       autosomal recessive disorder characterized by lax, wrinkled skin, joint
CC       laxity and a typical face with a prematurely aged appearance. Skeletal
CC       signs include severe osteoporosis leading to frequent fractures, malar
CC       and mandibular hypoplasia and a variable degree of growth retardation.
CC       {ECO:0000269|PubMed:18997784}. Note=The disease is caused by variants
CC       affecting the gene represented in this entry.
CC   -!- SIMILARITY: Belongs to the GORAB family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAD32702.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
CC       Sequence=AAH47476.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
CC       Sequence=AAH64945.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC       Sequence=BAB13903.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR   EMBL; AK021814; BAB13903.1; ALT_INIT; mRNA.
DR   EMBL; AL162399; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC047476; AAH47476.1; ALT_SEQ; mRNA.
DR   EMBL; BC064945; AAH64945.1; ALT_INIT; mRNA.
DR   EMBL; AF143889; AAD32702.1; ALT_SEQ; mRNA.
DR   CCDS; CCDS1289.1; -. [Q5T7V8-1]
DR   CCDS; CCDS53428.1; -. [Q5T7V8-2]
DR   RefSeq; NP_001139511.1; NM_001146039.1. [Q5T7V8-2]
DR   RefSeq; NP_689494.2; NM_152281.2. [Q5T7V8-1]
DR   AlphaFoldDB; Q5T7V8; -.
DR   SMR; Q5T7V8; -.
DR   BioGRID; 124937; 107.
DR   IntAct; Q5T7V8; 69.
DR   MINT; Q5T7V8; -.
DR   STRING; 9606.ENSP00000356737; -.
DR   iPTMnet; Q5T7V8; -.
DR   PhosphoSitePlus; Q5T7V8; -.
DR   BioMuta; GORAB; -.
DR   DMDM; 74745442; -.
DR   EPD; Q5T7V8; -.
DR   jPOST; Q5T7V8; -.
DR   MassIVE; Q5T7V8; -.
DR   MaxQB; Q5T7V8; -.
DR   PaxDb; Q5T7V8; -.
DR   PeptideAtlas; Q5T7V8; -.
DR   PRIDE; Q5T7V8; -.
DR   ProteomicsDB; 64687; -. [Q5T7V8-1]
DR   ProteomicsDB; 64688; -. [Q5T7V8-2]
DR   Antibodypedia; 34371; 379 antibodies from 28 providers.
DR   DNASU; 92344; -.
DR   Ensembl; ENST00000367762.2; ENSP00000356736.2; ENSG00000120370.14. [Q5T7V8-2]
DR   Ensembl; ENST00000367763.8; ENSP00000356737.4; ENSG00000120370.14. [Q5T7V8-1]
DR   GeneID; 92344; -.
DR   KEGG; hsa:92344; -.
DR   MANE-Select; ENST00000367763.8; ENSP00000356737.4; NM_152281.3; NP_689494.3.
DR   UCSC; uc001ggz.5; human. [Q5T7V8-1]
DR   CTD; 92344; -.
DR   DisGeNET; 92344; -.
DR   GeneCards; GORAB; -.
DR   HGNC; HGNC:25676; GORAB.
DR   HPA; ENSG00000120370; Low tissue specificity.
DR   MalaCards; GORAB; -.
DR   MIM; 231070; phenotype.
DR   MIM; 607983; gene.
DR   neXtProt; NX_Q5T7V8; -.
DR   OpenTargets; ENSG00000120370; -.
DR   Orphanet; 2078; Geroderma osteodysplastica.
DR   PharmGKB; PA164720285; -.
DR   VEuPathDB; HostDB:ENSG00000120370; -.
DR   eggNOG; ENOG502R60M; Eukaryota.
DR   GeneTree; ENSGT00390000014886; -.
DR   HOGENOM; CLU_064636_0_0_1; -.
DR   InParanoid; Q5T7V8; -.
DR   OMA; PMAQGWA; -.
DR   PhylomeDB; Q5T7V8; -.
DR   TreeFam; TF324839; -.
DR   PathwayCommons; Q5T7V8; -.
DR   SignaLink; Q5T7V8; -.
DR   BioGRID-ORCS; 92344; 11 hits in 1074 CRISPR screens.
DR   ChiTaRS; GORAB; human.
DR   GenomeRNAi; 92344; -.
DR   Pharos; Q5T7V8; Tbio.
DR   PRO; PR:Q5T7V8; -.
DR   Proteomes; UP000005640; Chromosome 1.
DR   RNAct; Q5T7V8; protein.
DR   Bgee; ENSG00000120370; Expressed in calcaneal tendon and 172 other tissues.
DR   ExpressionAtlas; Q5T7V8; baseline and differential.
DR   Genevisible; Q5T7V8; HS.
DR   GO; GO:0005737; C:cytoplasm; ISS:HGNC.
DR   GO; GO:0005829; C:cytosol; IDA:HPA.
DR   GO; GO:0005794; C:Golgi apparatus; IDA:HPA.
DR   GO; GO:0005730; C:nucleolus; IDA:HPA.
DR   GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR   GO; GO:0031069; P:hair follicle morphogenesis; IEA:Ensembl.
DR   GO; GO:1905515; P:non-motile cilium assembly; IBA:GO_Central.
DR   GO; GO:1901622; P:positive regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning; IEA:Ensembl.
DR   InterPro; IPR007033; GORAB.
DR   PANTHER; PTHR21470; PTHR21470; 1.
DR   Pfam; PF04949; Transcrip_act; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Coiled coil; Cytoplasm; Dwarfism; Golgi apparatus;
KW   Reference proteome.
FT   CHAIN           1..369
FT                   /note="RAB6-interacting golgin"
FT                   /id="PRO_0000252444"
FT   REGION          1..128
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          188..369
FT                   /note="Necessary for interaction with RCHY1"
FT                   /evidence="ECO:0000269|PubMed:15781263"
FT   REGION          334..369
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COILED          145..297
FT                   /evidence="ECO:0000255"
FT   COMPBIAS        10..40
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        50..100
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        337..369
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VAR_SEQ         222..369
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_020978"
FT   VARIANT         295
FT                   /note="E -> K (in dbSNP:rs913257)"
FT                   /evidence="ECO:0000269|PubMed:14702039"
FT                   /id="VAR_027867"
FT   CONFLICT        203
FT                   /note="I -> T (in Ref. 1; BAB13903)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        291
FT                   /note="R -> G (in Ref. 1; BAB13903)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        354
FT                   /note="N -> D (in Ref. 4; AAD32702)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   369 AA;  42266 MW;  CD25807983B987F1 CRC64;
     MAQGWAGFSE EELRRLKQTK DPFEPQRRLP AKKSRQQLQR EKALVEQSQK LGLQDGSTSL
     LPEQLLSAPK QRVNVQKPPF SSPTLPSHFT LTSPVGDGQP QGIESQPKEL GLENSHDGHN
     NVEILPPKPD CKLEKKKVEL QEKSRWEVLQ QEQRLMEEKN KRKKALLAKA IAERSKRTQA
     ETMKLKRIQK ELQALDDMVS ADIGILRNRI DQASLDYSYA RKRFDRAEAE YIAAKLDIQR
     KTEIKEQLTE HLCTIIQQNE LRKAKKLEEL MQQLDVEADE ETLELEVEVE RLLHEQEVES
     RRPVVRLERP FQPAEESVTL EFAKENRKCQ EQAVSPKVDD QCGNSSSIPF LSPNCPNQEG
     NDISAALAT
 
 
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