ID PK1L2_HUMAN Reviewed; 2459 AA. AC Q7Z442; Q6UEE1; Q6ZN46; Q6ZSP2; Q8N1H9; Q96CL2; Q96Q08; DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot. DT 28-MAR-2018, sequence version 5. DT 24-JAN-2024, entry version 172. DE RecName: Full=Polycystin-1-like protein 2; DE Short=Polycystin-1L2; DE AltName: Full=PC1-like 2 protein; DE AltName: Full=Polycystic kidney disease protein 1-like 2; DE Flags: Precursor; GN Name=PKD1L2; Synonyms=KIAA1879, PC1L2; 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), ALTERNATIVE SPLICING, TISSUE RP SPECIFICITY, AND VARIANTS ARG-73; ASN-77; ILE-183; ALA-301; PRO-711; RP VAL-863; PRO-1326; PHE-2139 AND ILE-2315. RC TISSUE=Testis; RX PubMed=12782129; DOI=10.1016/s0888-7543(03)00048-x; RA Li A., Tian X., Sung S.-W., Somlo S.; RT "Identification of two novel polycystic kidney disease-1-like genes in RT human and mouse genomes."; RL Genomics 81:596-608(2003). RN [2] RP ERRATUM OF PUBMED:12782129. RA Li A., Tian X., Sung S.-W., Somlo S.; RL Genomics 82:498-500(2003). RN [3] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, SUBUNIT, ALTERNATIVE RP SPLICING, INTERACTION WITH GNAS AND GNAI1, AND VARIANTS PRO-1326; ASP-1330; RP ARG-2036; LEU-2046; THR-2055; PHE-2139 AND ARG-2209. RX PubMed=15203210; DOI=10.1016/j.ygeno.2004.02.008; RA Yuasa T., Takakura A., Denker B.M., Venugopal B., Zhou J.; RT "Polycystin-1L2 is a novel G-protein-binding protein."; RL Genomics 84:126-138(2004). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6), NUCLEOTIDE SEQUENCE RP [LARGE SCALE MRNA] OF 474-2459 (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE RP SCALE MRNA] OF 2079-2459 (ISOFORMS 1/2/3/4), AND VARIANTS PRO-711; RP PHE-2139; ARG-2209 AND ILE-2315. RC TISSUE=Amygdala, Hippocampus, and Kidney; 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 [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 553-2016 (ISOFORM 1), AND RP VARIANTS PRO-711; VAL-863; PRO-1326; ASP-1330; VAL-1331 AND VAL-1867. RC TISSUE=Brain; RX PubMed=11572484; DOI=10.1093/dnares/8.4.179; RA Nagase T., Kikuno R., Ohara O.; RT "Prediction of the coding sequences of unidentified human genes. XXI. The RT complete sequences of 60 new cDNA clones from brain which code for large RT proteins."; RL DNA Res. 8:179-187(2001). RN [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15616553; DOI=10.1038/nature03187; RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M., RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., RA Myers R.M., Rubin E.M., Pennacchio L.A.; RT "The sequence and analysis of duplication-rich human chromosome 16."; RL Nature 432:988-994(2004). RN [7] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), AND VARIANT PRO-711. RC TISSUE=Skin; 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). CC -!- FUNCTION: May function as an ion-channel regulator. May function as a CC G-protein-coupled receptor. {ECO:0000269|PubMed:15203210}. CC -!- SUBUNIT: May interact via its C-terminus with GNAS and GNAI1. CC {ECO:0000269|PubMed:15203210}. CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane CC protein {ECO:0000305}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=5; CC Name=1; CC IsoId=Q7Z442-1; Sequence=Displayed; CC Name=2; Synonyms=Long isoform; CC IsoId=Q7Z442-2; Sequence=VSP_031942; CC Name=3; CC IsoId=Q7Z442-3; Sequence=VSP_031946, VSP_031948; CC Name=4; CC IsoId=Q7Z442-4; Sequence=VSP_031942, VSP_031946, VSP_031948; CC Name=6; CC IsoId=Q7Z442-6; Sequence=VSP_031942, VSP_031944, VSP_031945, CC VSP_031947; CC -!- TISSUE SPECIFICITY: Expressed in all tissues tested including brain, CC placenta, mammary gland, testis, lung and liver. Highest expression in CC skeletal muscle. Isoform 2 is expressed in heart and kidney. CC {ECO:0000269|PubMed:12782129}. CC -!- DEVELOPMENTAL STAGE: Expressed in fetal heart. CC -!- SIMILARITY: Belongs to the polycystin family. {ECO:0000305}. CC -!- CAUTION: PKD1L2 is both a gene and a pseudogene in the human CC population. The reference genome assembly corresponds currently to the CC non-functional allele while the sequence shown here is the one of the CC functional protein. {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=AAQ73173.1; Type=Frameshift; Evidence={ECO:0000305}; CC Sequence=BAB67772.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; CC Sequence=BAC05222.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; CC Sequence=BAD18529.1; Type=Erroneous translation; Note=Wrong CDS prediction.; 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; AY164483; AAO32796.1; -; mRNA. DR EMBL; AY371495; AAQ73173.1; ALT_FRAME; mRNA. DR EMBL; AB067466; BAB67772.1; ALT_SEQ; mRNA. DR EMBL; AK098052; BAC05222.1; ALT_INIT; mRNA. DR EMBL; AK127266; BAC86906.1; -; mRNA. DR EMBL; AK131378; BAD18529.1; ALT_SEQ; mRNA. DR EMBL; AC092718; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC131888; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; BC004562; AAH04562.1; -; mRNA. DR EMBL; BC014157; AAH14157.1; -; mRNA. DR CCDS; CCDS61999.1; -. [Q7Z442-4] DR RefSeq; NP_001070248.1; NM_001076780.1. DR RefSeq; NP_001265352.1; NM_001278423.1. [Q7Z442-4] DR RefSeq; NP_001265354.1; NM_001278425.1. DR RefSeq; NP_443124.3; NM_052892.3. DR AlphaFoldDB; Q7Z442; -. DR SMR; Q7Z442; -. DR BioGRID; 125342; 22. DR IntAct; Q7Z442; 2. DR MEROPS; P02.038; -. DR TCDB; 1.A.5.1.8; the polycystin cation channel (pcc) family. DR GlyCosmos; Q7Z442; 8 sites, No reported glycans. DR GlyGen; Q7Z442; 8 sites. DR iPTMnet; Q7Z442; -. DR PhosphoSitePlus; Q7Z442; -. DR BioMuta; PKD1L2; -. DR DMDM; 317373538; -. DR EPD; Q7Z442; -. DR MassIVE; Q7Z442; -. DR PaxDb; 9606-ENSP00000485172; -. DR PeptideAtlas; Q7Z442; -. DR Antibodypedia; 2579; 107 antibodies from 17 providers. DR DNASU; 114780; -. DR Ensembl; ENST00000527937.1; ENSP00000432818.1; ENSG00000166473.19. [Q7Z442-6] DR Ensembl; ENST00000531391.5; ENSP00000436309.1; ENSG00000166473.19. [Q7Z442-4] DR GeneID; 114780; -. DR KEGG; hsa:114780; -. DR UCSC; uc002fgi.5; human. [Q7Z442-1] DR AGR; HGNC:21715; -. DR CTD; 114780; -. DR DisGeNET; 114780; -. DR GeneCards; PKD1L2; -. DR HGNC; HGNC:21715; PKD1L2. DR HPA; ENSG00000166473; Tissue enhanced (adipose tissue, choroid plexus, heart muscle). DR MIM; 607894; gene. DR neXtProt; NX_Q7Z442; -. DR OpenTargets; ENSG00000166473; -. DR PharmGKB; PA134874396; -. DR VEuPathDB; HostDB:ENSG00000166473; -. DR eggNOG; KOG3599; Eukaryota. DR GeneTree; ENSGT00940000161577; -. DR HOGENOM; CLU_908990_0_0_1; -. DR InParanoid; Q7Z442; -. DR PhylomeDB; Q7Z442; -. DR PathwayCommons; Q7Z442; -. DR SignaLink; Q7Z442; -. DR BioGRID-ORCS; 114780; 8 hits in 604 CRISPR screens. DR ChiTaRS; PKD1L2; human. DR GenomeRNAi; 114780; -. DR Pharos; Q7Z442; Tbio. DR PRO; PR:Q7Z442; -. DR Proteomes; UP000005640; Chromosome 16. DR RNAct; Q7Z442; Protein. DR Bgee; ENSG00000166473; Expressed in seminal vesicle and 100 other cell types or tissues. DR ExpressionAtlas; Q7Z442; baseline and differential. DR GO; GO:0016020; C:membrane; IBA:GO_Central. DR GO; GO:0005262; F:calcium channel activity; IBA:GO_Central. DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro. DR GO; GO:0030246; F:carbohydrate binding; IEA:UniProtKB-KW. DR GO; GO:0050982; P:detection of mechanical stimulus; IBA:GO_Central. DR CDD; cd00037; CLECT; 1. DR CDD; cd22831; Gal_Rha_Lectin_PKD1L2; 1. DR CDD; cd01752; PLAT_polycystin; 1. DR Gene3D; 1.10.287.70; -; 1. DR Gene3D; 2.60.120.740; -; 1. DR Gene3D; 2.60.220.50; -; 1. DR Gene3D; 3.10.100.10; Mannose-Binding Protein A, subunit A; 1. DR Gene3D; 2.60.60.20; PLAT/LH2 domain; 1. DR InterPro; IPR001304; C-type_lectin-like. DR InterPro; IPR016186; C-type_lectin-like/link_sf. DR InterPro; IPR016187; CTDL_fold. DR InterPro; IPR046338; GAIN_dom_sf. DR InterPro; IPR000203; GPS. DR InterPro; IPR000922; Lectin_gal-bd_dom. DR InterPro; IPR043159; Lectin_gal-bd_sf. DR InterPro; IPR002859; PKD/REJ-like. DR InterPro; IPR013122; PKD1_2_channel. DR InterPro; IPR003915; PKD_2. DR InterPro; IPR001024; PLAT/LH2_dom. DR InterPro; IPR036392; PLAT/LH2_dom_sf. DR InterPro; IPR042060; PLAT_polycystin1. DR InterPro; IPR046791; Polycystin_dom. DR InterPro; IPR014010; REJ_dom. DR PANTHER; PTHR10877:SF134; POLYCYSTIC KIDNEY DISEASE PROTEIN 1-LIKE 2; 1. DR PANTHER; PTHR10877; POLYCYSTIN FAMILY MEMBER; 1. DR Pfam; PF02140; Gal_Lectin; 1. DR Pfam; PF01825; GPS; 1. DR Pfam; PF00059; Lectin_C; 1. DR Pfam; PF08016; PKD_channel; 1. DR Pfam; PF01477; PLAT; 1. DR Pfam; PF20519; Polycystin_dom; 1. DR Pfam; PF02010; REJ; 1. DR PRINTS; PR01433; POLYCYSTIN2. DR SMART; SM00034; CLECT; 1. DR SMART; SM00303; GPS; 1. DR SMART; SM00308; LH2; 1. DR SUPFAM; SSF56436; C-type lectin-like; 1. DR SUPFAM; SSF49723; Lipase/lipooxygenase domain (PLAT/LH2 domain); 1. DR PROSITE; PS50041; C_TYPE_LECTIN_2; 1. DR PROSITE; PS50221; GPS; 1. DR PROSITE; PS50095; PLAT; 1. DR PROSITE; PS51111; REJ; 1. DR PROSITE; PS50228; SUEL_LECTIN; 1. DR Genevisible; Q7Z442; HS. PE 1: Evidence at protein level; KW Alternative splicing; Disulfide bond; Glycoprotein; Ion channel; KW Ion transport; Lectin; Membrane; Reference proteome; Signal; Transmembrane; KW Transmembrane helix; Transport. FT SIGNAL 1..17 FT /evidence="ECO:0000255" FT CHAIN 18..2459 FT /note="Polycystin-1-like protein 2" FT /id="PRO_0000322576" FT TOPO_DOM 18..1344 FT /note="Extracellular" FT /evidence="ECO:0000255" FT TRANSMEM 1345..1365 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 1366..1552 FT /note="Cytoplasmic" FT /evidence="ECO:0000255" FT TRANSMEM 1553..1573 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 1574..1594 FT /note="Extracellular" FT /evidence="ECO:0000255" FT TRANSMEM 1595..1615 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 1616..1818 FT /note="Cytoplasmic" FT /evidence="ECO:0000255" FT TRANSMEM 1819..1839 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 1840..1865 FT /note="Extracellular" FT /evidence="ECO:0000255" FT TRANSMEM 1866..1886 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 1887..1943 FT /note="Cytoplasmic" FT /evidence="ECO:0000255" FT TRANSMEM 1944..1964 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 1965..2143 FT /note="Extracellular" FT /evidence="ECO:0000255" FT TRANSMEM 2144..2166 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 2167..2182 FT /note="Cytoplasmic" FT /evidence="ECO:0000255" FT TRANSMEM 2183..2203 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 2204..2218 FT /note="Extracellular" FT /evidence="ECO:0000255" FT TRANSMEM 2219..2239 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 2240..2270 FT /note="Cytoplasmic" FT /evidence="ECO:0000255" FT TRANSMEM 2271..2291 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 2292..2312 FT /note="Extracellular" FT /evidence="ECO:0000255" FT TRANSMEM 2313..2333 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 2334..2377 FT /note="Cytoplasmic" FT /evidence="ECO:0000255" FT TRANSMEM 2378..2398 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 2399..2459 FT /note="Extracellular" FT /evidence="ECO:0000255" FT DOMAIN 35..153 FT /note="C-type lectin" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00040" FT DOMAIN 161..252 FT /note="SUEL-type lectin" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00260" FT DOMAIN 422..1123 FT /note="REJ" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00511" FT DOMAIN 1279..1328 FT /note="GPS" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00098" FT DOMAIN 1390..1507 FT /note="PLAT" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00152" FT REGION 1625..1649 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 2340..2362 FT /note="Channel pore-region" FT REGION 2379..2459 FT /note="Interaction with GNAS and GNAI1" FT /evidence="ECO:0000269|PubMed:15203210" FT REGION 2431..2459 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 1625..1644 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 2438..2452 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT CARBOHYD 96 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 110 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 268 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 307 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 441 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 536 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1176 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1186 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT DISULFID 56..152 FT /evidence="ECO:0000250" FT DISULFID 128..144 FT /evidence="ECO:0000250" FT VAR_SEQ 1..685 FT /note="Missing (in isoform 2, isoform 4 and isoform 6)" FT /evidence="ECO:0000303|PubMed:14702039, FT ECO:0000303|PubMed:15203210, ECO:0000303|PubMed:15489334" FT /id="VSP_031942" FT VAR_SEQ 754..812 FT /note="Missing (in isoform 6)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_031944" FT VAR_SEQ 928..984 FT /note="REHVLGSLSAVTTGLEDVQRVQELAEVLREVTCRSKELTPSAQWEASLALQH FT ASEAL -> PVGSWGAPFIPFLWGPRVCVRPFGLWIKVHGSGEKPVVSPKRLTPPPSLV FT FWVSDIK (in isoform 6)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_031945" FT VAR_SEQ 971..991 FT /note="WEASLALQHASEALLTVSAKA -> GSCMGDSWEGAPPAAHVSHAR (in FT isoform 3 and isoform 4)" FT /evidence="ECO:0000303|PubMed:14702039, FT ECO:0000303|PubMed:15489334" FT /id="VSP_031946" FT VAR_SEQ 985..2459 FT /note="Missing (in isoform 6)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_031947" FT VAR_SEQ 992..2459 FT /note="Missing (in isoform 3 and isoform 4)" FT /evidence="ECO:0000303|PubMed:14702039, FT ECO:0000303|PubMed:15489334" FT /id="VSP_031948" FT VARIANT 20 FT /note="V -> A (in dbSNP:rs9924530)" FT /id="VAR_039427" FT VARIANT 73 FT /note="W -> R (in dbSNP:rs9924371)" FT /evidence="ECO:0000269|PubMed:12782129" FT /id="VAR_039428" FT VARIANT 77 FT /note="K -> N (in dbSNP:rs9934272)" FT /evidence="ECO:0000269|PubMed:12782129" FT /id="VAR_039429" FT VARIANT 120 FT /note="Q -> L (in dbSNP:rs7191351)" FT /id="VAR_039430" FT VARIANT 129 FT /note="G -> D (in dbSNP:rs7185774)" FT /id="VAR_039431" FT VARIANT 156 FT /note="V -> I (in dbSNP:rs35528333)" FT /id="VAR_039432" FT VARIANT 162 FT /note="C -> S (in dbSNP:rs35970134)" FT /id="VAR_039433" FT VARIANT 169 FT /note="V -> M (in dbSNP:rs36099350)" FT /id="VAR_039434" FT VARIANT 173 FT /note="L -> S (in dbSNP:rs8060294)" FT /id="VAR_039435" FT VARIANT 183 FT /note="V -> I (in dbSNP:rs12933806)" FT /evidence="ECO:0000269|PubMed:12782129" FT /id="VAR_039436" FT VARIANT 205 FT /note="G -> R (in dbSNP:rs34719852)" FT /id="VAR_039437" FT VARIANT 221 FT /note="E -> G (in dbSNP:rs6564838)" FT /id="VAR_039438" FT VARIANT 252 FT /note="R -> W (in dbSNP:rs6420424)" FT /id="VAR_039439" FT VARIANT 301 FT /note="P -> A (in dbSNP:rs11150370)" FT /evidence="ECO:0000269|PubMed:12782129" FT /id="VAR_039440" FT VARIANT 407 FT /note="N -> S (in dbSNP:rs9937169)" FT /id="VAR_039441" FT VARIANT 416 FT /note="K -> Q (in dbSNP:rs7194871)" FT /id="VAR_039442" FT VARIANT 462 FT /note="L -> V (in dbSNP:rs9934856)" FT /id="VAR_039443" FT VARIANT 512 FT /note="P -> L (in dbSNP:rs7205673)" FT /id="VAR_039444" FT VARIANT 636 FT /note="R -> H (in dbSNP:rs13339342)" FT /id="VAR_039445" FT VARIANT 711 FT /note="L -> P (in dbSNP:rs4889261)" FT /evidence="ECO:0000269|PubMed:11572484, FT ECO:0000269|PubMed:12782129, ECO:0000269|PubMed:14702039, FT ECO:0000269|PubMed:15489334" FT /id="VAR_039446" FT VARIANT 785 FT /note="G -> C (in dbSNP:rs9935113)" FT /id="VAR_039447" FT VARIANT 849 FT /note="R -> H (in dbSNP:rs1869349)" FT /id="VAR_039448" FT VARIANT 863 FT /note="A -> V (in dbSNP:rs12596941)" FT /evidence="ECO:0000269|PubMed:11572484, FT ECO:0000269|PubMed:12782129" FT /id="VAR_039449" FT VARIANT 919 FT /note="L -> M (in dbSNP:rs745211)" FT /id="VAR_039450" FT VARIANT 998 FT /note="R -> C (in dbSNP:rs34504526)" FT /id="VAR_061525" FT VARIANT 999 FT /note="Q -> H (in dbSNP:rs35292101)" FT /id="VAR_061526" FT VARIANT 1036 FT /note="L -> P (in dbSNP:rs12597040)" FT /id="VAR_039451" FT VARIANT 1042 FT /note="M -> V (in dbSNP:rs12931227)" FT /id="VAR_039452" FT VARIANT 1048 FT /note="T -> A (in dbSNP:rs12931217)" FT /id="VAR_056705" FT VARIANT 1081 FT /note="G -> V (in dbSNP:rs16954794)" FT /id="VAR_056706" FT VARIANT 1251 FT /note="G -> W (in dbSNP:rs734824)" FT /id="VAR_056707" FT VARIANT 1326 FT /note="S -> P (in dbSNP:rs1453324)" FT /evidence="ECO:0000269|PubMed:11572484, FT ECO:0000269|PubMed:12782129, ECO:0000269|PubMed:15203210" FT /id="VAR_056708" FT VARIANT 1330 FT /note="N -> D (in dbSNP:rs1453325)" FT /evidence="ECO:0000269|PubMed:11572484, FT ECO:0000269|PubMed:15203210" FT /id="VAR_061527" FT VARIANT 1331 FT /note="I -> V (in dbSNP:rs9938333)" FT /evidence="ECO:0000269|PubMed:11572484" FT /id="VAR_061528" FT VARIANT 1335 FT /note="A -> D (in dbSNP:rs1453326)" FT /id="VAR_056709" FT VARIANT 1406 FT /note="T -> M (in dbSNP:rs8050904)" FT /id="VAR_056710" FT VARIANT 1527 FT /note="A -> V (in dbSNP:rs16954775)" FT /id="VAR_056711" FT VARIANT 1616 FT /note="Q -> R (in dbSNP:rs9921827)" FT /id="VAR_056712" FT VARIANT 1645 FT /note="M -> V (in dbSNP:rs9921748)" FT /id="VAR_056713" FT VARIANT 1665 FT /note="S -> Y (in dbSNP:rs7192948)" FT /id="VAR_056714" FT VARIANT 1701 FT /note="Q -> H (in dbSNP:rs7194136)" FT /id="VAR_056715" FT VARIANT 1739 FT /note="A -> V (in dbSNP:rs35941327)" FT /id="VAR_061529" FT VARIANT 1848 FT /note="G -> R (in dbSNP:rs4889244)" FT /id="VAR_056716" FT VARIANT 1867 FT /note="M -> V (in dbSNP:rs12918619)" FT /evidence="ECO:0000269|PubMed:11572484" FT /id="VAR_056717" FT VARIANT 2036 FT /note="Q -> R (in dbSNP:rs16954722)" FT /evidence="ECO:0000269|PubMed:15203210" FT /id="VAR_056718" FT VARIANT 2046 FT /note="P -> L (in dbSNP:rs7206183)" FT /evidence="ECO:0000269|PubMed:15203210" FT /id="VAR_056719" FT VARIANT 2055 FT /note="A -> T (in dbSNP:rs16954717)" FT /evidence="ECO:0000269|PubMed:15203210" FT /id="VAR_056720" FT VARIANT 2119 FT /note="L -> I (in dbSNP:rs8050204)" FT /id="VAR_059551" FT VARIANT 2139 FT /note="S -> F (in dbSNP:rs4889241)" FT /evidence="ECO:0000269|PubMed:12782129, FT ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15203210" FT /id="VAR_059552" FT VARIANT 2209 FT /note="S -> R (in dbSNP:rs4889238)" FT /evidence="ECO:0000269|PubMed:14702039, FT ECO:0000269|PubMed:15203210" FT /id="VAR_061530" FT VARIANT 2315 FT /note="M -> I (in dbSNP:rs8054182)" FT /evidence="ECO:0000269|PubMed:12782129, FT ECO:0000269|PubMed:14702039" FT /id="VAR_059553" FT CONFLICT 783 FT /note="E -> G (in Ref. 4; BAC05222)" FT /evidence="ECO:0000305" FT CONFLICT 1421 FT /note="R -> S (in Ref. 1; AAO32796)" FT /evidence="ECO:0000305" FT CONFLICT 1774 FT /note="S -> P (in Ref. 5; BAB67772)" FT /evidence="ECO:0000305" FT CONFLICT 1776 FT /note="P -> H (in Ref. 5; BAB67772)" FT /evidence="ECO:0000305" FT CONFLICT 2049 FT /note="Y -> S (in Ref. 3; AAQ73173)" FT /evidence="ECO:0000305" FT CONFLICT 2078 FT /note="E -> A (in Ref. 3; AAQ73173)" FT /evidence="ECO:0000305" FT CONFLICT 2114..2117 FT /note="STSR -> KHVK (in Ref. 1; AAO32796)" FT /evidence="ECO:0000305" FT CONFLICT 2202 FT /note="V -> G (in Ref. 3; AAQ73173)" FT /evidence="ECO:0000305" SQ SEQUENCE 2459 AA; 272514 MW; 92F85B3CF8B46F36 CRC64; MSAVGLVLLV LALRLRATTV KPEEGSFCSN SQVAFRDACY EFVPLGRTFR DAQSWCEGQG GHLVFIQDEG TQWFLQKHIS QDREWWIGLT WNLARNGTTE GPGTWLDTSN VTYSNWHGGQ AAAAPDTCGH IGRGPSSEWV TSDCAQTFAF MCEFRVGQSL ACEGLNATVH CGLGQVIQVQ DAVYGRQNPH FCTQDAGRPS DLEQGCSWAN VKEEVAGQCQ ELQSCQVAAD ETYFGNLCPT QGSYLWVQYQ CREALQLMVS SESFIFDNVT ISLTWLLSPY IGNLSCIIST GDSHTFDPYN PPSVSSNVTH QFTSPGEFTV FAECTTSEWH VTAQRQVTVR DKMETLSVTA CSGLSQSGAG PLCQAVFGDP LWIQVELDGG TGVTYTVLLG DITLAESTTQ KGSLPYNLIL DRETQKLMGP GRHRLEIQAT GNTTTSTISR NITVHLVELL SGLQASWASD HLELGQDLLI TISLAQGTPE ELTFEVAGLN ATFSHEQVSF GEPFGICRLA VPVEGTFLVT MLVRNAFSNL SLEIGNITIT APSGLQEPSG MNAEGKSKDK GDMEVYIQPG PYVDPFTTVT LGWPDNDKEL RFQWSCGSCW ALWSSCVERQ LLRTDQRELV VPASCLPPPD SAVTLRLAVL RGQELENRAE QCLYVSAPWE LRPRVSCERN CRPVNASKDI LLRVTMGEDS PVAMFSWYLD NTPTEQAEPL LDACRLRGFW PRSLTLLQSN TSTLLLNSSF LQSRGEVIRI RATALTRHAY GEDTYVISTV PPREVPACTI APEEGTVLTS FAIFCNASTA LGPLEFCFCL ESGSCLHCGP EPALPSVYLP LGEENNDFVL TVVISATNRA GDTQQTQAMA KVALGDTCVE DVAFQAAVSE KIPTALQGEG GPEQLLQLAK AVSSMLNQEH ESQGSGQSLS IDVRQKVREH VLGSLSAVTT GLEDVQRVQE LAEVLREVTC RSKELTPSAQ WEASLALQHA SEALLTVSAK ARPEDQRRQA ATRDLFQAVG SVLEASLSNR PEEPAEASSS QIATVLRLLR VMEHVQTTLL LGKLPGGLPA MLATPSISVY TNRIQPWSWQ GSSLRPDAAD SATFMLPAAS SLSSLEGGQE PVDIKIMSFP KSPFPARSHF DVSGTVGGLR VTSPSGQLIP VKNLSENIEI LLPRHSQRHS QPTVLNLTSP EALWVNVTSG EATLGIQLHW RPDIALTLSL GYGYHPNKSS YDAQTHLVPM VAPDELPTWI LSPQDLRFGE GVYYLTVVPE SDLEPAPGRD LTVGITTFLS HCVFWDEVQE TWDDSGCQVG PRTSPYQTHC LCNHLTFFGS TFLVMSNAIN IHQTAELFAT FEDNPVVVTT VGCLCVVYVL VVIWARRKDA QDQAKVKVTV LEDNDPFAQY HYLVTVYTGH RRGAATSSKV TVTLYGLDGE REPHHLADPD TPVFERGAVD AFLLSTLFPL GELRSLRLWH DNSGDRPSWY VSRVLVYDLV MDRKWYFLCN SWLSINVGDC VLDKVFPVAT EQDRKQFSHL FFMKTSAGFQ DGHIWYSIFS RCARSSFTRV QRVSCCFSLL LCTMLTSIMF WGVPKDPAEQ KMDLGKIEFT WQEVMIGLES SILMFPINLL IVQIFQNTRP RVAKEQNTGK WDRGSPNLTP SPQPMEDGLL TPEAVTKDVS RIVSSLFKAL KVPSPALGWD SVNLMDINSL LALVEDVIYP QNTSGQVFWE EAKKREDPVT LTLGSSEMKE KSQCPKPKAA RSGPWKDSAY RQCLYLQLEH VEQELRLVGP RGFSQPHSHA QALRQLQTLK GGLGVQPGTW APAHASALQV SKPPQGLPWW CILVGWLLVA ATSGVAAFFT MLYGLHYGRA SSLRWLISMA VSFVESMFVT QPLKVLGFAA FFALVLKRVD DEEDTVAPLP GHLLGPDPYA LFRARRNSSR DVYQPPLTAA IEKMKTTHLK EQKAFALIRE ILAYLGFLWM LLLVAYGQRD PSAYHLNRHL QHSFTRGFSG VLGFREFFKW ANTTLVSNLY GHPPGFITDG NSKLVGSAQI RQVRVQESSC PLAQQPQAYL NGCRAPYSLD AEDMADYGEG WNATTLSEWQ YQSQDQRQGY PIWGKLTVYR GGGYVVPLGT DRQSTSRILR YLFDNTWLDA LTRAVFVEST VYNANVNLFC IVTLTLETSA LGTFFTHAAL QSLRLYPFTD GWHPFVVAAE LIYFLFLLYY MVVQGKRMSK ETWGYFCSKW NLLELAIILA SWSALAVFVK RAVLAERDLQ RCRNHREEGI SFSETAAADA ALGYIIAFLV LLSTVKLWHL LRLNPKMNMI TAALRRAWGD ISGFMIVILT MLLAYSIASN LIFGWKLRSY KTLFDAAETM VSLQLGIFNY EEVLDYSPVL GSFLIGSCIV FMTFVVLNLF ISVILVAFSE EQKYYQLSEE GEIVDLLLMK ILSFLGIKSK REEPGSSREQ PGSLSQTRHS RPAQALPKD //