EPG5_HUMAN
ID EPG5_HUMAN Reviewed; 2579 AA.
AC Q9HCE0; A2BDF3; Q9H8C8;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 02-OCT-2007, sequence version 2.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Ectopic P granules protein 5 homolog;
GN Name=EPG5; Synonyms=KIAA1632;
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 GENOMIC DNA].
RX PubMed=16177791; DOI=10.1038/nature03983;
RA Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D.,
RA Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J.,
RA Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L.,
RA Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A.,
RA Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C.,
RA Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
RA Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
RA Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 18.";
RL Nature 437:551-555(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1446 (ISOFORMS 1/2), AND
RP VARIANT GLU-182.
RC TISSUE=Brain;
RX PubMed=10997877; DOI=10.1093/dnares/7.4.271;
RA Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVIII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:273-281(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1075-2579 (ISOFORM 2).
RC TISSUE=Placenta;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1124-2579 (ISOFORM 2).
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 [5]
RP FUNCTION.
RX PubMed=20550938; DOI=10.1016/j.cell.2010.04.034;
RA Tian Y., Li Z., Hu W., Ren H., Tian E., Zhao Y., Lu Q., Huang X., Yang P.,
RA Li X., Wang X., Kovacs A.L., Yu L., Zhang H.;
RT "C. elegans screen identifies autophagy genes specific to multicellular
RT organisms.";
RL Cell 141:1042-1055(2010).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-134, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [7]
RP FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH RAN, AND VARIANTS VICIS
RP 299-ARG--ARG-2579 DEL AND ALA-1827.
RX PubMed=29130391; DOI=10.1080/15548627.2017.1389356;
RA Piano Mortari E., Folgiero V., Marcellini V., Romania P., Bellacchio E.,
RA D'Alicandro V., Bocci C., Carrozzo R., Martinelli D., Petrini S.,
RA Axiotis E., Farroni C., Locatelli F., Schara U., Pilz D.T., Jungbluth H.,
RA Dionisi-Vici C., Carsetti R.;
RT "The Vici syndrome protein EPG5 regulates intracellular nucleic acid
RT trafficking linking autophagy to innate and adaptive immunity.";
RL Autophagy 14:22-37(2018).
RN [8]
RP VARIANTS [LARGE SCALE ANALYSIS] THR-1511; TYR-1865 AND TRP-2056.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
RN [9]
RP VARIANTS VICIS ARG-336; PRO-457; PRO-784; 859-GLU--ARG-2579 DEL;
RP 1161-ARG--ARG-2579 DEL; 1530-GLN--ARG-2579 DEL; 1584-LEU--ARG-2579 DEL;
RP 1595-GLN--ARG-2579 DEL; 1945-CYS--ARG-2579 DEL; ARG-2038 AND
RP 2078-ARG--ARG-2579 DEL, FUNCTION, AND INVOLVEMENT IN VICIS.
RX PubMed=23222957; DOI=10.1038/ng.2497;
RA Cullup T., Kho A.L., Dionisi-Vici C., Brandmeier B., Smith F., Urry Z.,
RA Simpson M.A., Yau S., Bertini E., McClelland V., Al-Owain M., Koelker S.,
RA Koerner C., Hoffmann G.F., Wijburg F.A., ten Hoedt A.E., Rogers R.C.,
RA Manchester D., Miyata R., Hayashi M., Said E., Soler D., Kroisel P.M.,
RA Windpassinger C., Filloux F.M., Al-Kaabi S., Hertecant J., Del Campo M.,
RA Buk S., Bodi I., Goebel H.H., Sewry C.A., Abbs S., Mohammed S.,
RA Josifova D., Gautel M., Jungbluth H.;
RT "Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder
RT with defective autophagy.";
RL Nat. Genet. 45:83-87(2013).
RN [10]
RP VARIANT VICIS 2483-ARG--ARG-2579 DEL.
RX PubMed=25331754; DOI=10.1002/ajmg.a.36772;
RA Ehmke N., Parvaneh N., Krawitz P., Ashrafi M.R., Karimi P., Mehdizadeh M.,
RA Krueger U., Hecht J., Mundlos S., Robinson P.N.;
RT "First description of a patient with Vici syndrome due to a mutation
RT affecting the penultimate exon of EPG5 and review of the literature.";
RL Am. J. Med. Genet. A 164A:3170-3175(2014).
RN [11]
RP VARIANTS VICIS 46-GLN--ARG-2579 DEL; ARG-336; 417-ARG--ARG-2579 DEL;
RP 1161-ARG--ARG-2579 DEL; 1989-TRP--ARG-2579 DEL; 1998-SER--ARG-2579 DEL;
RP 2028-TRP--ARG-2579 DEL; PRO-2092; LYS-2414; 2445-ARG--ARG-2579 DEL AND
RP 2483-ARG--ARG-2579 DEL.
RX PubMed=26917586; DOI=10.1093/brain/awv393;
RA Byrne S., Jansen L., U-King-Im J.M., Siddiqui A., Lidov H.G., Bodi I.,
RA Smith L., Mein R., Cullup T., Dionisi-Vici C., Al-Gazali L., Al-Owain M.,
RA Bruwer Z., Al Thihli K., El-Garhy R., Flanigan K.M., Manickam K., Zmuda E.,
RA Banks W., Gershoni-Baruch R., Mandel H., Dagan E., Raas-Rothschild A.,
RA Barash H., Filloux F., Creel D., Harris M., Hamosh A., Koelker S.,
RA Ebrahimi-Fakhari D., Hoffmann G.F., Manchester D., Boyer P.J., Manzur A.Y.,
RA Lourenco C.M., Pilz D.T., Kamath A., Prabhakar P., Rao V.K., Rogers R.C.,
RA Ryan M.M., Brown N.J., McLean C.A., Said E., Schara U., Stein A., Sewry C.,
RA Travan L., Wijburg F.A., Zenker M., Mohammed S., Fanto M., Gautel M.,
RA Jungbluth H.;
RT "EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders
RT with defective autophagy.";
RL Brain 139:765-781(2016).
RN [12]
RP CHARACTERIZATION OF VARIANT VICIS ARG-336.
RX PubMed=27343256; DOI=10.1093/brain/aww135;
RA Kane M.S., Vilboux T., Wolfe L.A., Lee P.R., Wang Y., Huddleston K.C.,
RA Vockley J.G., Niederhuber J.E., Solomon B.D.;
RT "Aberrant splicing induced by the most common EPG5 mutation in an
RT individual with Vici syndrome.";
RL Brain 139:E52-E52(2016).
RN [13]
RP VARIANT VICIS GLU-1336.
RX PubMed=28168853; DOI=10.1002/ajmg.a.38061;
RA Maillard C., Cavallin M., Piquand K., Philbert M., Bault J.P.,
RA Millischer A.E., Moshous D., Rio M., Gitiaux C., Boddaert N., Masson C.,
RA Thomas S., Bahi-Buisson N.;
RT "Prenatal and postnatal presentations of corpus callosum agenesis with
RT polymicrogyria caused by EGP5 mutation.";
RL Am. J. Med. Genet. A 173:706-711(2017).
CC -!- FUNCTION: Involved in autophagy. May play a role in a late step of
CC autophagy, such as clearance of autophagosomal cargo. Plays a key role
CC in innate and adaptive immune response triggered by unmethylated
CC cytidine-phosphate-guanosine (CpG) dinucleotides from pathogens, and
CC mediated by the nucleotide-sensing receptor TLR9. It is necessary for
CC the translocation of CpG dinucleotides from early endosomes to late
CC endosomes and lysosomes, where TLR9 is located (PubMed:29130391).
CC {ECO:0000269|PubMed:20550938, ECO:0000269|PubMed:23222957,
CC ECO:0000269|PubMed:29130391}.
CC -!- SUBUNIT: Interacts with RAN. {ECO:0000269|PubMed:29130391}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, perinuclear region
CC {ECO:0000269|PubMed:29130391}. Lysosome {ECO:0000269|PubMed:29130391}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9HCE0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9HCE0-2; Sequence=VSP_028435;
CC -!- DISEASE: Vici syndrome (VICIS) [MIM:242840]: A rare congenital
CC multisystem disorder characterized by agenesis of the corpus callosum,
CC cataracts, pigmentary defects, progressive cardiomyopathy, and variable
CC immunodeficiency. Affected individuals also have profound psychomotor
CC retardation and hypotonia due to a myopathy.
CC {ECO:0000269|PubMed:23222957, ECO:0000269|PubMed:25331754,
CC ECO:0000269|PubMed:26917586, ECO:0000269|PubMed:27343256,
CC ECO:0000269|PubMed:28168853, ECO:0000269|PubMed:29130391}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry. Affected individuals show homozygosity or compound
CC heterozygosity for truncating mutations, aberrant splicing and/or
CC missense mutations. Parental studies suggest recessive inheritance with
CC no carrier manifestation (PubMed:23222957).
CC {ECO:0000269|PubMed:23222957}.
CC -!- SIMILARITY: Belongs to the EPG5 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB13458.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB14689.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
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; AC087685; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC090355; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AB046852; BAB13458.1; ALT_INIT; mRNA.
DR EMBL; AK023817; BAB14689.1; ALT_SEQ; mRNA.
DR EMBL; BC130614; AAI30615.1; -; mRNA.
DR CCDS; CCDS11926.2; -. [Q9HCE0-1]
DR RefSeq; NP_066015.2; NM_020964.2. [Q9HCE0-1]
DR PDB; 7JHX; X-ray; 1.91 A; C/D=560-571.
DR PDBsum; 7JHX; -.
DR AlphaFoldDB; Q9HCE0; -.
DR SMR; Q9HCE0; -.
DR BioGRID; 121746; 11.
DR IntAct; Q9HCE0; 3.
DR MINT; Q9HCE0; -.
DR STRING; 9606.ENSP00000282041; -.
DR GlyConnect; 2037; 6 N-Linked glycans (1 site).
DR GlyGen; Q9HCE0; 1 site, 12 N-linked glycans (1 site).
DR iPTMnet; Q9HCE0; -.
DR PhosphoSitePlus; Q9HCE0; -.
DR BioMuta; EPG5; -.
DR DMDM; 158705892; -.
DR EPD; Q9HCE0; -.
DR jPOST; Q9HCE0; -.
DR MassIVE; Q9HCE0; -.
DR MaxQB; Q9HCE0; -.
DR PaxDb; Q9HCE0; -.
DR PeptideAtlas; Q9HCE0; -.
DR PRIDE; Q9HCE0; -.
DR ProteomicsDB; 81681; -. [Q9HCE0-1]
DR ProteomicsDB; 81682; -. [Q9HCE0-2]
DR Antibodypedia; 22425; 80 antibodies from 15 providers.
DR DNASU; 57724; -.
DR Ensembl; ENST00000282041.11; ENSP00000282041.4; ENSG00000152223.15. [Q9HCE0-1]
DR GeneID; 57724; -.
DR KEGG; hsa:57724; -.
DR MANE-Select; ENST00000282041.11; ENSP00000282041.4; NM_020964.3; NP_066015.2.
DR UCSC; uc002lbm.4; human. [Q9HCE0-1]
DR CTD; 57724; -.
DR DisGeNET; 57724; -.
DR GeneCards; EPG5; -.
DR HGNC; HGNC:29331; EPG5.
DR HPA; ENSG00000152223; Low tissue specificity.
DR MalaCards; EPG5; -.
DR MIM; 242840; phenotype.
DR MIM; 615068; gene.
DR neXtProt; NX_Q9HCE0; -.
DR OpenTargets; ENSG00000152223; -.
DR Orphanet; 1493; Vici syndrome.
DR PharmGKB; PA134941500; -.
DR VEuPathDB; HostDB:ENSG00000152223; -.
DR eggNOG; KOG3622; Eukaryota.
DR GeneTree; ENSGT00390000007354; -.
DR HOGENOM; CLU_000773_0_0_1; -.
DR InParanoid; Q9HCE0; -.
DR OMA; EHFLPMY; -.
DR OrthoDB; 42984at2759; -.
DR PhylomeDB; Q9HCE0; -.
DR TreeFam; TF313847; -.
DR PathwayCommons; Q9HCE0; -.
DR SignaLink; Q9HCE0; -.
DR BioGRID-ORCS; 57724; 40 hits in 1083 CRISPR screens.
DR ChiTaRS; EPG5; human.
DR GenomeRNAi; 57724; -.
DR Pharos; Q9HCE0; Tbio.
DR PRO; PR:Q9HCE0; -.
DR Proteomes; UP000005640; Chromosome 18.
DR RNAct; Q9HCE0; protein.
DR Bgee; ENSG00000152223; Expressed in pancreatic ductal cell and 181 other tissues.
DR ExpressionAtlas; Q9HCE0; baseline and differential.
DR Genevisible; Q9HCE0; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005764; C:lysosome; IDA:UniProtKB.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; IDA:UniProtKB.
DR GO; GO:0097352; P:autophagosome maturation; IBA:GO_Central.
DR GO; GO:1990786; P:cellular response to dsDNA; IMP:UniProtKB.
DR GO; GO:0032456; P:endocytic recycling; IEA:Ensembl.
DR GO; GO:0008333; P:endosome to lysosome transport; IMP:UniProtKB.
DR GO; GO:0006862; P:nucleotide transport; IMP:UniProtKB.
DR GO; GO:0034162; P:toll-like receptor 9 signaling pathway; IMP:UniProtKB.
DR InterPro; IPR029651; EPG-5.
DR PANTHER; PTHR31139:SF4; PTHR31139:SF4; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Autophagy; Cataract; Coiled coil;
KW Cytoplasm; Disease variant; Lysosome; Phosphoprotein; Reference proteome.
FT CHAIN 1..2579
FT /note="Ectopic P granules protein 5 homolog"
FT /id="PRO_0000306255"
FT REGION 1..46
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 92..132
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 535..564
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 1607..1633
FT /evidence="ECO:0000255"
FT COMPBIAS 20..40
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 134
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 2482..2579
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_028435"
FT VARIANT 46..2579
FT /note="Missing (in VICIS)"
FT /evidence="ECO:0000269|PubMed:26917586"
FT /id="VAR_081369"
FT VARIANT 182
FT /note="K -> E (in dbSNP:rs59422275)"
FT /evidence="ECO:0000269|PubMed:10997877"
FT /id="VAR_062210"
FT VARIANT 299..2579
FT /note="Missing (in VICIS)"
FT /evidence="ECO:0000269|PubMed:29130391"
FT /id="VAR_081370"
FT VARIANT 336
FT /note="Q -> R (in VICIS; relatively mild phenotype
FT characterized by absence or later onset of cardiac or
FT immunologic features; a normally spliced transcript with
FT the missense variant and multiple misspliced transcripts
FT are detected in patient cells; results in 50% decrease of
FT mRNA levels in patient cells most probably due to nonsense-
FT mediated decay of misspliced transcripts;
FT dbSNP:rs201757275)"
FT /evidence="ECO:0000269|PubMed:23222957,
FT ECO:0000269|PubMed:26917586, ECO:0000269|PubMed:27343256"
FT /id="VAR_069224"
FT VARIANT 417..2579
FT /note="Missing (in VICIS)"
FT /evidence="ECO:0000269|PubMed:26917586"
FT /id="VAR_081371"
FT VARIANT 457
FT /note="L -> P (in VICIS; unknown pathological significance;
FT associated in cis with P-784; dbSNP:rs746862679)"
FT /evidence="ECO:0000269|PubMed:23222957"
FT /id="VAR_081372"
FT VARIANT 784
FT /note="Q -> P (in VICIS; unknown pathological significance;
FT associated in cis with P-457; dbSNP:rs754795342)"
FT /evidence="ECO:0000269|PubMed:23222957"
FT /id="VAR_081373"
FT VARIANT 844
FT /note="E -> D (in dbSNP:rs3744999)"
FT /id="VAR_035278"
FT VARIANT 859..2579
FT /note="Missing (in VICIS)"
FT /evidence="ECO:0000269|PubMed:23222957"
FT /id="VAR_081374"
FT VARIANT 1058
FT /note="V -> A (in dbSNP:rs3744998)"
FT /id="VAR_035279"
FT VARIANT 1131
FT /note="I -> V (in dbSNP:rs3744997)"
FT /id="VAR_035280"
FT VARIANT 1161..2579
FT /note="Missing (in VICIS)"
FT /evidence="ECO:0000269|PubMed:23222957,
FT ECO:0000269|PubMed:26917586"
FT /id="VAR_081375"
FT VARIANT 1336
FT /note="G -> E (in VICIS; unknown pathological significance;
FT dbSNP:rs1085308061)"
FT /evidence="ECO:0000269|PubMed:28168853"
FT /id="VAR_081376"
FT VARIANT 1511
FT /note="A -> T (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036525"
FT VARIANT 1511
FT /note="A -> V (in dbSNP:rs1893523)"
FT /id="VAR_035281"
FT VARIANT 1530..2579
FT /note="Missing (in VICIS)"
FT /evidence="ECO:0000269|PubMed:23222957"
FT /id="VAR_081377"
FT VARIANT 1584..2579
FT /note="Missing (in VICIS)"
FT /evidence="ECO:0000269|PubMed:23222957"
FT /id="VAR_081378"
FT VARIANT 1595..2579
FT /note="Missing (in VICIS)"
FT /evidence="ECO:0000269|PubMed:23222957"
FT /id="VAR_081379"
FT VARIANT 1827
FT /note="P -> A (in VICIS; dbSNP:rs1568118775)"
FT /evidence="ECO:0000269|PubMed:29130391"
FT /id="VAR_081380"
FT VARIANT 1864
FT /note="S -> N (in dbSNP:rs34064739)"
FT /id="VAR_035282"
FT VARIANT 1865
FT /note="C -> Y (in a breast cancer sample; somatic mutation;
FT dbSNP:rs1272061911)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036526"
FT VARIANT 1945..2579
FT /note="Missing (in VICIS)"
FT /evidence="ECO:0000269|PubMed:23222957"
FT /id="VAR_081381"
FT VARIANT 1985
FT /note="R -> Q (in dbSNP:rs34674177)"
FT /id="VAR_035283"
FT VARIANT 1989..2579
FT /note="Missing (in VICIS)"
FT /evidence="ECO:0000269|PubMed:26917586"
FT /id="VAR_081382"
FT VARIANT 1998..2579
FT /note="Missing (in VICIS)"
FT /evidence="ECO:0000269|PubMed:26917586"
FT /id="VAR_081383"
FT VARIANT 2028..2579
FT /note="Missing (in VICIS)"
FT /evidence="ECO:0000269|PubMed:26917586"
FT /id="VAR_081384"
FT VARIANT 2038
FT /note="C -> R (in VICIS; unknown pathological significance;
FT dbSNP:rs375057925)"
FT /evidence="ECO:0000269|PubMed:23222957"
FT /id="VAR_081385"
FT VARIANT 2056
FT /note="R -> W (in a breast cancer sample; somatic mutation;
FT dbSNP:rs116076204)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036527"
FT VARIANT 2078..2579
FT /note="Missing (in VICIS)"
FT /evidence="ECO:0000269|PubMed:23222957"
FT /id="VAR_081386"
FT VARIANT 2092
FT /note="L -> P (in VICIS; unknown pathological significance;
FT dbSNP:rs1568104317)"
FT /evidence="ECO:0000269|PubMed:26917586"
FT /id="VAR_081387"
FT VARIANT 2414
FT /note="E -> K (in VICIS; unknown pathological significance;
FT dbSNP:rs1568094451)"
FT /evidence="ECO:0000269|PubMed:26917586"
FT /id="VAR_081388"
FT VARIANT 2445..2579
FT /note="Missing (in VICIS)"
FT /evidence="ECO:0000269|PubMed:26917586"
FT /id="VAR_081389"
FT VARIANT 2483..2579
FT /note="Missing (in VICIS)"
FT /evidence="ECO:0000269|PubMed:25331754,
FT ECO:0000269|PubMed:26917586"
FT /id="VAR_081390"
FT CONFLICT 1201
FT /note="C -> R (in Ref. 3; BAB14689)"
FT /evidence="ECO:0000305"
FT CONFLICT 1369
FT /note="A -> V (in Ref. 3; BAB14689)"
FT /evidence="ECO:0000305"
FT CONFLICT 1444..1446
FT /note="DLW -> VKL (in Ref. 2; BAB13458)"
FT /evidence="ECO:0000305"
FT CONFLICT 1711
FT /note="S -> T (in Ref. 3; BAB14689)"
FT /evidence="ECO:0000305"
FT CONFLICT 2295
FT /note="W -> S (in Ref. 3; BAB14689)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 2579 AA; 292481 MW; BE1179F6D4A1C6AB CRC64;
MAEAVKPQRR AKAKASRTKT KEKKKYETPQ REESSEVSLP KTSREQEIPS LACEFKGDHL
KVVTDSQLQD DASGQNESEM FDVPLTSLTI SNEESLTCNT EPPKEGGEAR PCVGDSAVTP
KVHPGDNVGT KVETPKNFTE VEENMSVQGG LSESAPQSNF SYTQPAMENI QVRETQNSKE
DKQGLVCSSE VPQNVGLQSS CPAKHGFQTP RVKKLYPQLP AEIAGEAPAL VAVKPLLRSE
RLYPELPSQL ELVPFTKEQL KILEPGSWLE NVESYLEEFD SMAHQDRHEF YELLLNYSRC
RKQLLLAEAE LLTLTSDCQN AKSRLWQFKE EQMSVQGICA DQVKVFSYHR YQRVEMNENA
LVELKKLFDA KSEHLHQTLA LHSYTSVLSR LQVESYIYAL LSSSAVLRSS AIHQQGRASK
QTESIPSDLC QLKECISVLF MFTRRVNEDT QFHDDILLWL QKLVSVLQRV GCPGDHLFLL
NHILRCPAGV SKWAVPFIQI KVLHNPSGVF HFMQSLALLM SPVKNRAEFM CHMKPSERKP
SSSGPGSGTW TLVDEGGEED EDPETSWILL NEDDLVTILA QFPFHELFQH LLGFKAKGDY
LPETTRPQEM MKIFAFANSL VELLAVGLET FNRARYRQFV KRIGYMIRMT LGYVSDHWAQ
YVSHNQGSGL AQQPYSMEKL QVEFDELFLR AVLHVLKAKR LGIWLFMSEM PFGTLSVQML
WKLFYLMHQV ESENLQQLSS SLQPAQCKQQ LQDPEHFTNF EKCLSSMNSS EEICLLTTFA
QMAQARRTNV DEDFIKIIVL EIYEVSYVTL STRETFSKVG RELLGTITAV HPEIISVLLD
RVQETIDQVG MVSLYLFKEL PLYLWQPSAS EIAVIRDWLL NYNLTVVKNK LACVILEGLN
WGFAKQATLH LDQAVHAEVA LMVLEAYQKY LAQKPYAGIL SESMKQVSYL ASIVRYGETP
ETSFNQWAWN LILRLKLHKN DYGIQPNCPA VPFSVTVPDM TESPTFHPLL KAVKAGMPIG
CYLALSMTAV GHSIEKFCAE GIPLLGILVQ SRHLRTVVHV LDKILPLFYP CQYYLLKNEQ
FLSHLLLFLH LDSGVPQGVT QQVTHKVAQH LTGASHGDNV KLLNSMIQAH ISVSTQPNEV
GPVAVLEFWV QALISQHLWY REQPILFLMD HLCKAAFQLM QEDCIQKLLY QQHKNALGYH
CDRSLLSSLV SWIVAGNITP SFVEGLATPT QVWFAWTVLN MESIFEEDSQ LRRVIEGELV
INSAFTPDQA LKKAQTQLKL PIVPSLQRLL IYRWAHQALV TPSDHPLLPL IWQKFFLLYL
HRPGPQYGLP IDGCIGRRFF QSPAHINLLK EMKRRLTEVA DFHHAASKAL RVPAEGSEGL
PESHSGTPGY LTSPELHKEL VRLFNVYILW LEDENFQKGD TYIPSLPKHY DIHRLAKVMQ
NQQDLWMEYL NMERIYHEFQ ETVGLWTQAK LESHSTPCSL SVQLDFTDPL LAKERVLSNL
RKHEAPQPPL ALHPTKPPVP VISSAVLLSQ KDATQLVCTD LNLLQQQART AALRESQQVA
LDGELLDTMP KQYVNREEQT TLHLECRGSS GKKCQGAAVV TVQFEGMHKN EAISQQLHVL
RKEVKQLQAE AAKPPSLNIV EAAVHAENLI TALVNAYKLQ PTPGIQKVGI SLFFTIVDYV
SDETQRHPPT RQFFTSCIEI LGQVFISGIK SECRKVLETI LKNSRLCSLL SPFFTPNAAP
AEFIQLYEQV VKFLSEDNSD MIFMLLTKFD LKQWLSATKP PLSDRTRLLE SIHLALTAWG
LEPDEDILMP FNLFCKHWTY LLLYQFPDQY SDILRLLMQS SAEQLLSPEC WKATLRALGC
CAPSCQQGAA STEGAVLPSS SDALLSDKQV METIQWLSDF FYKLRLSKMD FKSFGLFSKW
SPYMADVKTF LGYLVKRLID LEMTCLAQDP TASRKTVLKS LHSVIIQLFK PWILVLEDNE
SSQQRHYPWL ESDTVVASSI VQLFTDCIDS LHESFKDKLL PGDAGALWLH LMHYCEACTA
PKMPEFILYA FHSTYRKLPW KDLHPDQMLM EAFFKVERGS PKSCFLFLGS VLCEVNWVSV
LSDAWNSSPH PETRSMIVCL LFMMILLAKE VQLVDQTDSP LLSLLGQTSS LSWHLVDIVS
YQSVLSYFSS HYPPSIILAK ESYAELIMKL LKVSAGLSIP TDSQKHLDAV PKCQAFTHQM
VQFLSTLEQN GKITLAVLEQ EMSKLLDDII VFNPPDMDSQ TRHMALSSLF MEVLMMMNNA
TIPTAEFLRG SIRTWIGQKM HGLVVLPLLT AACQSLASVR HMAETTEACI TAYFKESPLN
QNSGWGPILV SLQVPELTME EFLQECLTLG SYLTLYVYLL QCLNSEQTLR NEMKVLLILS
KWLEQVYPSS VEEEAKLFLW WHQVLQLSLI QTEQNDSVLT ESVIRILLLV QSRQNLVAEE
RLSSGILGAI GFGRKSPLSN RFRVVARSMA AFLSVQVPME DQIRLRPGSE LHLTPKAQQA
LNALESMASS KQYVEYQDQI LQATQFIRHP GHCLQDGKSF LALLVNCLYP EVHYLDHIR
