PK1L2_HUMAN
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 03-AUG-2022, entry version 164.
DE RecName: Full=Polycystic kidney disease protein 1-like 2;
DE AltName: Full=PC1-like 2 protein;
DE AltName: Full=Polycystin-1L2;
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};
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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. [Q7Z442-3]
DR RefSeq; NP_001265352.1; NM_001278423.1. [Q7Z442-4]
DR RefSeq; NP_001265354.1; NM_001278425.1. [Q7Z442-2]
DR RefSeq; NP_443124.3; NM_052892.3. [Q7Z442-1]
DR AlphaFoldDB; Q7Z442; -.
DR SMR; Q7Z442; -.
DR BioGRID; 125342; 22.
DR IntAct; Q7Z442; 2.
DR STRING; 9606.ENSP00000485172; -.
DR MEROPS; P02.038; -.
DR TCDB; 1.A.5.1.8; the polycystin cation channel (pcc) family.
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; Q7Z442; -.
DR PeptideAtlas; Q7Z442; -.
DR PRIDE; Q7Z442; -.
DR Antibodypedia; 2579; 92 antibodies from 17 providers.
DR DNASU; 114780; -.
DR Ensembl; ENST00000337114.8; ENSP00000337397.4; ENSG00000166473.17. [Q7Z442-3]
DR Ensembl; ENST00000527937.1; ENSP00000432818.1; ENSG00000166473.17. [Q7Z442-6]
DR Ensembl; ENST00000531391.5; ENSP00000436309.1; ENSG00000166473.17. [Q7Z442-4]
DR GeneID; 114780; -.
DR KEGG; hsa:114780; -.
DR UCSC; uc002fgi.5; human. [Q7Z442-1]
DR CTD; 114780; -.
DR DisGeNET; 114780; -.
DR GeneCards; PKD1L2; -.
DR HGNC; HGNC:21715; PKD1L2.
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 OrthoDB; 1276906at2759; -.
DR PhylomeDB; Q7Z442; -.
DR PathwayCommons; Q7Z442; -.
DR SignaLink; Q7Z442; -.
DR BioGRID-ORCS; 114780; 3 hits in 561 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 98 other tissues.
DR ExpressionAtlas; Q7Z442; baseline and differential.
DR Genevisible; Q7Z442; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
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; cd01752; PLAT_polycystin; 1.
DR Gene3D; 2.60.120.740; -; 1.
DR Gene3D; 2.60.220.50; -; 1.
DR Gene3D; 3.10.100.10; -; 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; IPR014010; REJ_dom.
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; PF02010; REJ; 1.
DR PRINTS; PR01433; POLYCYSTIN2.
DR SMART; SM00034; CLECT; 1.
DR SMART; SM00303; GPS; 1.
DR SMART; SM00308; LH2; 1.
DR SUPFAM; SSF49723; SSF49723; 1.
DR SUPFAM; SSF56436; SSF56436; 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.
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="Polycystic kidney disease protein 1-like 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
