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 27-NOV-2024, entry version 144. 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; 13. DR IntAct; Q9HCE0; 7. DR MINT; Q9HCE0; -. DR STRING; 9606.ENSP00000282041; -. DR GlyConnect; 2037; 6 N-Linked glycans (1 site). DR GlyCosmos; Q9HCE0; 1 site, 12 glycans. DR GlyGen; Q9HCE0; 2 sites, 12 N-linked glycans (1 site), 1 O-linked glycan (1 site). DR iPTMnet; Q9HCE0; -. DR PhosphoSitePlus; Q9HCE0; -. DR BioMuta; EPG5; -. DR DMDM; 158705892; -. DR jPOST; Q9HCE0; -. DR MassIVE; Q9HCE0; -. DR PaxDb; 9606-ENSP00000282041; -. DR PeptideAtlas; Q9HCE0; -. DR ProteomicsDB; 81681; -. [Q9HCE0-1] DR ProteomicsDB; 81682; -. [Q9HCE0-2] DR Pumba; Q9HCE0; -. DR Antibodypedia; 22425; 74 antibodies from 14 providers. DR DNASU; 57724; -. DR Ensembl; ENST00000282041.11; ENSP00000282041.4; ENSG00000152223.16. [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 AGR; HGNC:29331; -. DR CTD; 57724; -. DR DisGeNET; 57724; -. DR GeneCards; EPG5; -. DR GeneReviews; 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; 2907346at2759; -. DR PhylomeDB; Q9HCE0; -. DR TreeFam; TF313847; -. DR PathwayCommons; Q9HCE0; -. DR SignaLink; Q9HCE0; -. DR BioGRID-ORCS; 57724; 41 hits in 1166 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 182 other cell types or tissues. DR ExpressionAtlas; Q9HCE0; baseline and differential. 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:0051607; P:defense response to virus; IEA:Ensembl. DR GO; GO:0032456; P:endocytic recycling; IEA:Ensembl. DR GO; GO:0008333; P:endosome to lysosome transport; IMP:UniProtKB. DR GO; GO:0010467; P:gene expression; IEA:Ensembl. DR GO; GO:0048877; P:homeostasis of number of retina cells; IEA:Ensembl. DR GO; GO:0048874; P:host-mediated regulation of intestinal microbiota composition; IEA:Ensembl. DR GO; GO:0070841; P:inclusion body assembly; IEA:Ensembl. DR GO; GO:0006954; P:inflammatory response; IEA:Ensembl. DR GO; GO:0140888; P:interferon-mediated signaling pathway; IEA:Ensembl. DR GO; GO:0098544; P:maintenance of protein complex location; IEA:Ensembl. DR GO; GO:0002385; P:mucosal immune response; IEA:Ensembl. DR GO; GO:0051402; P:neuron apoptotic process; IEA:Ensembl. DR GO; GO:0006862; P:nucleotide transport; IMP:UniProtKB. DR GO; GO:0046530; P:photoreceptor cell differentiation; IEA:Ensembl. DR GO; GO:0140454; P:protein aggregate center assembly; IEA:Ensembl. DR GO; GO:0034342; P:response to type III interferon; IEA:Ensembl. DR GO; GO:0006986; P:response to unfolded protein; IEA:Ensembl. DR GO; GO:0034162; P:toll-like receptor 9 signaling pathway; IMP:UniProtKB. DR GO; GO:0006511; P:ubiquitin-dependent protein catabolic process; IEA:Ensembl. DR InterPro; IPR051436; Autophagy-related_EPG5. DR PANTHER; PTHR31139; ECTOPIC P GRANULES PROTEIN 5 HOMOLOG; 1. DR PANTHER; PTHR31139:SF4; ECTOPIC P GRANULES PROTEIN 5 HOMOLOG; 1. PE 1: Evidence at protein level; KW 3D-structure; Alternative splicing; Autophagy; Cataract; Coiled coil; KW Cytoplasm; Disease variant; Lysosome; Phosphoprotein; KW Proteomics identification; 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; uncertain significance; associated FT 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; uncertain significance; associated FT 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; uncertain 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 mutation; FT dbSNP:rs2049605091)" 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; uncertain 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; uncertain significance; FT dbSNP:rs1568104317)" FT /evidence="ECO:0000269|PubMed:26917586" FT /id="VAR_081387" FT VARIANT 2414 FT /note="E -> K (in VICIS; uncertain 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 //