MUC17_HUMAN
ID MUC17_HUMAN Reviewed; 4493 AA.
AC Q685J3; O14761; Q685J2; Q8TDH7;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=Mucin-17;
DE Short=MUC-17;
DE AltName: Full=Small intestinal mucin-3;
DE Short=MUC-3;
DE Flags: Precursor;
GN Name=MUC17; Synonyms=MUC3;
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] (ISOFORMS 1 AND 2), ALTERNATIVE SPLICING, AND
RP TISSUE SPECIFICITY.
RC TISSUE=Pancreatic adenocarcinoma;
RX PubMed=16737958; DOI=10.1074/jbc.m600302200;
RA Moniaux N., Junker W.M., Singh A.P., Jones A.M., Batra S.K.;
RT "Characterization of human mucin MUC17. Complete coding sequence and
RT organization.";
RL J. Biol. Chem. 281:23676-23685(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1347-1582, TISSUE SPECIFICITY, AND VARIANTS
RP PRO-1348; ARG-1375 AND ALA-1480.
RC TISSUE=Small intestine;
RX PubMed=9299468; DOI=10.1006/bbrc.1997.7258;
RA Van Klinken B.J.-W., Van Dijken T.C., Oussoren E., Buller H.A., Dekker J.,
RA Einerhand A.W.;
RT "Molecular cloning of human MUC3 cDNA reveals a novel 59 amino acid tandem
RT repeat region.";
RL Biochem. Biophys. Res. Commun. 238:143-148(1997).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 3465-4493 (ISOFORM 1), AND TISSUE
RP SPECIFICITY.
RX PubMed=11855812; DOI=10.1006/bbrc.2002.6475;
RA Gum J.R. Jr., Crawley S.C., Hicks J.W., Szymkowski D.E., Kim Y.S.;
RT "MUC17, a novel membrane-tethered mucin.";
RL Biochem. Biophys. Res. Commun. 291:466-475(2002).
RN [5]
RP GLYCOSYLATION, AND SUBCELLULAR LOCATION.
RX PubMed=12888891;
RA Ho J.J.L., Jaituni R.S., Crawley S.C., Yang S.C., Gum J.R., Kim Y.S.;
RT "N-glycosylation is required for the surface localization of MUC17 mucin.";
RL Int. J. Oncol. 23:585-592(2003).
RN [6]
RP FUNCTION, AND INTERACTION WITH PDZK1.
RX PubMed=17990980; DOI=10.1042/bj20071068;
RA Malmberg E.K., Pelaseyed T., Petersson A.C., Seidler U.E., De Jonge H.,
RA Riordan J.R., Hansson G.C.;
RT "The C-terminus of the transmembrane mucin MUC17 binds to the scaffold
RT protein PDZK1 that stably localizes it to the enterocyte apical membrane in
RT the small intestine.";
RL Biochem. J. 410:283-289(2008).
CC -!- FUNCTION: Probably plays a role in maintaining homeostasis on mucosal
CC surfaces. {ECO:0000269|PubMed:17990980}.
CC -!- SUBUNIT: Interacts via its C-terminus with PDZK1 and this interaction
CC appears important for proper localization.
CC {ECO:0000269|PubMed:17990980}.
CC -!- SUBCELLULAR LOCATION: [Isoform 1]: Cell membrane; Single-pass membrane
CC protein.
CC -!- SUBCELLULAR LOCATION: [Isoform 2]: Secreted {ECO:0000305}. Cell
CC membrane.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1; Synonyms=Major, Mb-MUC17;
CC IsoId=Q685J3-1; Sequence=Displayed;
CC Name=2; Synonyms=Minor, s-MUC17;
CC IsoId=Q685J3-2; Sequence=VSP_032648, VSP_032649;
CC -!- TISSUE SPECIFICITY: Expressed almost exclusively in the intestine.
CC Expression is especially high in both the duodenum and transverse
CC colon. Expressed in mature absorptive cells of the small intestinal
CC villi. No expression is detected in goblet cells. Highly expressed in
CC pancreatic adenocarcinoma tissue (at protein level). Expression is not
CC detectable in normal pancreas, in pancreatitis or in cell lines derived
CC from other cancers. {ECO:0000269|PubMed:11855812,
CC ECO:0000269|PubMed:16737958, ECO:0000269|PubMed:9299468}.
CC -!- PTM: Probably cleaved within the SEA domain.
CC -!- PTM: N-glycosylated. Contains high mannose and complex-type glycans.
CC The forms containing the complex type glycans localize to the cell
CC surface. Not O-glycosylated. {ECO:0000269|PubMed:12888891}.
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/MUC17ID41456ch7q22.html";
CC -!- WEB RESOURCE: Name=Mucin database;
CC URL="http://www.medkem.gu.se/mucinbiology/databases/";
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DR EMBL; AJ606307; CAE54435.1; -; mRNA.
DR EMBL; AJ606308; CAE54436.1; -; mRNA.
DR EMBL; AC105446; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AF016693; AAB71686.1; -; mRNA.
DR EMBL; AF430017; AAL89737.1; -; mRNA.
DR CCDS; CCDS34711.1; -. [Q685J3-1]
DR PIR; PC4396; PC4396.
DR RefSeq; NP_001035194.1; NM_001040105.1. [Q685J3-1]
DR BioGRID; 126608; 1.
DR STRING; 9606.ENSP00000302716; -.
DR GlyGen; Q685J3; 13 sites.
DR iPTMnet; Q685J3; -.
DR PhosphoSitePlus; Q685J3; -.
DR BioMuta; MUC17; -.
DR DMDM; 296439228; -.
DR jPOST; Q685J3; -.
DR MassIVE; Q685J3; -.
DR PaxDb; Q685J3; -.
DR PeptideAtlas; Q685J3; -.
DR PRIDE; Q685J3; -.
DR ProteomicsDB; 65991; -. [Q685J3-1]
DR ProteomicsDB; 65992; -. [Q685J3-2]
DR ABCD; Q685J3; 2 sequenced antibodies.
DR Antibodypedia; 16706; 48 antibodies from 15 providers.
DR CPTC; Q685J3; 3 antibodies.
DR DNASU; 140453; -.
DR Ensembl; ENST00000306151.9; ENSP00000302716.4; ENSG00000169876.14. [Q685J3-1]
DR GeneID; 140453; -.
DR KEGG; hsa:140453; -.
DR MANE-Select; ENST00000306151.9; ENSP00000302716.4; NM_001040105.2; NP_001035194.1.
DR UCSC; uc003uxp.2; human. [Q685J3-1]
DR CTD; 140453; -.
DR DisGeNET; 140453; -.
DR GeneCards; MUC17; -.
DR HGNC; HGNC:16800; MUC17.
DR HPA; ENSG00000169876; Tissue enriched (intestine).
DR MIM; 608424; gene.
DR neXtProt; NX_Q685J3; -.
DR OpenTargets; ENSG00000169876; -.
DR PharmGKB; PA31315; -.
DR VEuPathDB; HostDB:ENSG00000169876; -.
DR eggNOG; ENOG502SEXN; Eukaryota.
DR GeneTree; ENSGT00940000154419; -.
DR HOGENOM; CLU_223647_0_0_1; -.
DR InParanoid; Q685J3; -.
DR OMA; KTWSVNV; -.
DR OrthoDB; 1531730at2759; -.
DR PhylomeDB; Q685J3; -.
DR TreeFam; TF337883; -.
DR PathwayCommons; Q685J3; -.
DR Reactome; R-HSA-5083625; Defective GALNT3 causes HFTC.
DR Reactome; R-HSA-5083632; Defective C1GALT1C1 causes TNPS.
DR Reactome; R-HSA-5083636; Defective GALNT12 causes CRCS1.
DR Reactome; R-HSA-5621480; Dectin-2 family.
DR Reactome; R-HSA-913709; O-linked glycosylation of mucins.
DR Reactome; R-HSA-977068; Termination of O-glycan biosynthesis.
DR BioGRID-ORCS; 140453; 7 hits in 1062 CRISPR screens.
DR ChiTaRS; MUC17; human.
DR GeneWiki; MUC17; -.
DR GenomeRNAi; 140453; -.
DR Pharos; Q685J3; Tbio.
DR PRO; PR:Q685J3; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q685J3; protein.
DR Bgee; ENSG00000169876; Expressed in duodenum and 63 other tissues.
DR ExpressionAtlas; Q685J3; baseline and differential.
DR Genevisible; Q685J3; HS.
DR GO; GO:0016324; C:apical plasma membrane; IDA:UniProtKB.
DR GO; GO:0062023; C:collagen-containing extracellular matrix; HDA:BHF-UCL.
DR GO; GO:0009897; C:external side of plasma membrane; IDA:UniProtKB.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0005796; C:Golgi lumen; TAS:Reactome.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0030197; F:extracellular matrix constituent, lubricant activity; HDA:BHF-UCL.
DR GO; GO:0030165; F:PDZ domain binding; IPI:UniProtKB.
DR GO; GO:0019725; P:cellular homeostasis; TAS:UniProtKB.
DR Gene3D; 3.30.70.960; -; 1.
DR InterPro; IPR000742; EGF-like_dom.
DR InterPro; IPR000082; SEA_dom.
DR InterPro; IPR036364; SEA_dom_sf.
DR Pfam; PF01390; SEA; 1.
DR SMART; SM00200; SEA; 1.
DR SUPFAM; SSF82671; SSF82671; 1.
DR PROSITE; PS00022; EGF_1; 1.
DR PROSITE; PS50026; EGF_3; 1.
DR PROSITE; PS50024; SEA; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Disulfide bond; Glycoprotein;
KW Membrane; Reference proteome; Repeat; Secreted; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1..25
FT /evidence="ECO:0000255"
FT CHAIN 26..4493
FT /note="Mucin-17"
FT /id="PRO_0000326254"
FT TOPO_DOM 26..4393
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 4394..4414
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 4415..4493
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REPEAT 185..245
FT /note="1"
FT REPEAT 246..300
FT /note="2"
FT REPEAT 301..361
FT /note="3"
FT REPEAT 362..418
FT /note="4"
FT REPEAT 420..477
FT /note="5"
FT REPEAT 479..538
FT /note="6"
FT REPEAT 539..597
FT /note="7"
FT REPEAT 598..654
FT /note="8"
FT REPEAT 656..715
FT /note="9"
FT REPEAT 716..774
FT /note="10"
FT REPEAT 775..831
FT /note="11"
FT REPEAT 833..892
FT /note="12"
FT REPEAT 893..951
FT /note="13"
FT REPEAT 952..1010
FT /note="14"
FT REPEAT 1011..1069
FT /note="15"
FT REPEAT 1070..1121
FT /note="16"
FT REPEAT 1122..1187
FT /note="17"
FT REPEAT 1188..1246
FT /note="18"
FT REPEAT 1247..1305
FT /note="19"
FT REPEAT 1306..1364
FT /note="20"
FT REPEAT 1365..1423
FT /note="21"
FT REPEAT 1424..1482
FT /note="22"
FT REPEAT 1483..1541
FT /note="23"
FT REPEAT 1542..1600
FT /note="24"
FT REPEAT 1601..1656
FT /note="25"
FT REPEAT 1658..1717
FT /note="26"
FT REPEAT 1718..1776
FT /note="27"
FT REPEAT 1777..1835
FT /note="28"
FT REPEAT 1836..1895
FT /note="29"
FT REPEAT 1896..1951
FT /note="30"
FT REPEAT 1953..2012
FT /note="31"
FT REPEAT 2013..2071
FT /note="32"
FT REPEAT 2072..2127
FT /note="33"
FT REPEAT 2129..2188
FT /note="34"
FT REPEAT 2189..2247
FT /note="35"
FT REPEAT 2248..2306
FT /note="36"
FT REPEAT 2307..2365
FT /note="37"
FT REPEAT 2366..2424
FT /note="38"
FT REPEAT 2425..2483
FT /note="39"
FT REPEAT 2484..2540
FT /note="40"
FT REPEAT 2542..2601
FT /note="41"
FT REPEAT 2602..2653
FT /note="42"
FT REPEAT 2654..2719
FT /note="43"
FT REPEAT 2720..2770
FT /note="44"
FT REPEAT 2772..2837
FT /note="45"
FT REPEAT 2838..2896
FT /note="46"
FT REPEAT 2897..2955
FT /note="47"
FT REPEAT 2956..3014
FT /note="48"
FT REPEAT 3015..3073
FT /note="49"
FT REPEAT 3074..3132
FT /note="50"
FT REPEAT 3133..3191
FT /note="51"
FT REPEAT 3192..3247
FT /note="52"
FT REPEAT 3249..3308
FT /note="53"
FT REPEAT 3309..3367
FT /note="54"
FT REPEAT 3368..3426
FT /note="55"
FT REPEAT 3427..3485
FT /note="56"
FT REPEAT 3486..3544
FT /note="57"
FT REPEAT 3604..3662
FT /note="58"
FT REPEAT 3663..3727
FT /note="59"
FT DOMAIN 4131..4170
FT /note="EGF-like"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 4184..4291
FT /note="SEA"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00188"
FT REGION 88..159
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 185..3727
FT /note="59 X approximate tandem repeats"
FT REGION 188..223
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 248..277
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 306..344
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 425..629
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 644..868
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 886..1104
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1116..1163
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1175..1279
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1296..1338
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1360..1516
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1537..1575
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1590..1930
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1947..2163
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2177..2281
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2295..2501
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2524..2630
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2647..2693
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2709..2751
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2765..2853
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2879..2925
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2942..3167
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 3182..3577
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 3589..3635
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 3667..3701
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 3785..3812
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 3829..3849
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 3892..3914
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 3965..3988
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 4008..4129
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT SITE 4243..4244
FT /note="Cleavage"
FT /evidence="ECO:0000255"
FT CARBOHYD 471
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 696
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 898
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1345
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2077
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2194
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 3344
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 4116
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 4205
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 4236
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 4267
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 4297
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 4305
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 4135..4147
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 4140..4158
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 4160..4169
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT VAR_SEQ 4241..4262
FT /note="RLGSVVVEHDVLLRTKYTPEYK -> HDVFQHHWHPSAKHYGDPVRP (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:16737958"
FT /id="VSP_032648"
FT VAR_SEQ 4363..4493
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16737958"
FT /id="VSP_032649"
FT VARIANT 227
FT /note="K -> Q (in dbSNP:rs10229731)"
FT /id="VAR_040047"
FT VARIANT 272
FT /note="G -> E (in dbSNP:rs10259584)"
FT /id="VAR_040048"
FT VARIANT 427
FT /note="A -> T (in dbSNP:rs56103274)"
FT /id="VAR_061489"
FT VARIANT 571
FT /note="P -> L (in dbSNP:rs34834039)"
FT /id="VAR_061490"
FT VARIANT 925
FT /note="P -> R (in dbSNP:rs149445753)"
FT /id="VAR_061491"
FT VARIANT 942
FT /note="R -> S (in dbSNP:rs10238201)"
FT /id="VAR_040049"
FT VARIANT 982
FT /note="T -> M (in dbSNP:rs4729646)"
FT /id="VAR_040050"
FT VARIANT 1130
FT /note="I -> T (in dbSNP:rs4729647)"
FT /id="VAR_040051"
FT VARIANT 1242
FT /note="S -> T (in dbSNP:rs10265276)"
FT /id="VAR_040052"
FT VARIANT 1246
FT /note="T -> N (in dbSNP:rs4729652)"
FT /id="VAR_040053"
FT VARIANT 1246
FT /note="T -> S (in dbSNP:rs4729651)"
FT /id="VAR_040054"
FT VARIANT 1249
FT /note="P -> A (in dbSNP:rs4729653)"
FT /id="VAR_040055"
FT VARIANT 1348
FT /note="L -> P (in dbSNP:rs4269454)"
FT /evidence="ECO:0000269|PubMed:9299468"
FT /id="VAR_040056"
FT VARIANT 1375
FT /note="C -> R (in dbSNP:rs4367469)"
FT /evidence="ECO:0000269|PubMed:9299468"
FT /id="VAR_040057"
FT VARIANT 1480
FT /note="V -> A (in dbSNP:rs7780935)"
FT /evidence="ECO:0000269|PubMed:9299468"
FT /id="VAR_061492"
FT VARIANT 2096
FT /note="A -> T (in dbSNP:rs28593004)"
FT /id="VAR_061493"
FT VARIANT 2159
FT /note="R -> G (in dbSNP:rs28555173)"
FT /id="VAR_061494"
FT VARIANT 3299
FT /note="S -> N (in dbSNP:rs35988443)"
FT /id="VAR_061495"
FT VARIANT 4334
FT /note="D -> N (in dbSNP:rs6946812)"
FT /id="VAR_040058"
FT VARIANT 4482
FT /note="R -> Q (in dbSNP:rs9656065)"
FT /id="VAR_040059"
FT CONFLICT 28
FT /note="D -> G (in Ref. 1; CAE54435/CAE54436)"
FT /evidence="ECO:0000305"
FT CONFLICT 65
FT /note="A -> T (in Ref. 1; CAE54435/CAE54436)"
FT /evidence="ECO:0000305"
FT CONFLICT 132
FT /note="S -> P (in Ref. 1; CAE54435/CAE54436)"
FT /evidence="ECO:0000305"
FT CONFLICT 3481
FT /note="T -> S (in Ref. 4; AAL89737)"
FT /evidence="ECO:0000305"
FT CONFLICT 3491
FT /note="T -> N (in Ref. 4; AAL89737)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 4493 AA; 451741 MW; 883D68DDB0D6E3C1 CRC64;
MPRPGTMALC LLTLVLSLLP PQAAAEQDLS VNRAVWDGGG CISQGDVLNR QCQQLSQHVR
TGSAANTATG TTSTNVVEPR MYLSCSTNPE MTSIESSVTS DTPGVSSTRM TPTESRTTSE
STSDSTTLFP SSTEDTSSPT TPEGTDVPMS TPSEESISST MAFVSTAPLP SFEAYTSLTY
KVDMSTPLTT STQASSSPTT PESTTIPKST NSEGSTPLTS MPASTMKVAS SEAITLLTTP
VEISTPVTIS AQASSSPTTA EGPSLSNSAP SGGSTPLTRM PLSVMLVVSS EASTLSTTPA
ATNIPVITST EASSSPTTAE GTSIPTSTYT EGSTPLTSTP ASTMPVATSE MSTLSITPVD
TSTLVTTSTE PSSLPTTAEA TSMLTSTLSE GSTPLTNMPV STILVASSEA STTSTIPVDS
KTFVTTASEA SSSPTTAEDT SIATSTPSEG STPLTSMPVS TTPVASSEAS NLSTTPVDSK
TQVTTSTEAS SSPPTAEVNS MPTSTPSEGS TPLTSMSVST MPVASSEAST LSTTPVDTST
PVTTSSEASS SSTTPEGTSI PTSTPSEGST PLTNMPVSTR LVVSSEASTT STTPADSNTF
VTTSSEASSS STTAEGTSMP TSTYSERGTT ITSMSVSTTL VASSEASTLS TTPVDSNTPV
TTSTEATSSS TTAEGTSMPT STYTEGSTPL TSMPVNTTLV ASSEASTLST TPVDTSTPVT
TSTEASSSPT TADGASMPTS TPSEGSTPLT SMPVSKTLLT SSEASTLSTT PLDTSTHITT
STEASCSPTT TEGTSMPIST PSEGSPLLTS IPVSITPVTS PEASTLSTTP VDSNSPVTTS
TEVSSSPTPA EGTSMPTSTY SEGRTPLTSM PVSTTLVATS AISTLSTTPV DTSTPVTNST
EARSSPTTSE GTSMPTSTPG EGSTPLTSMP DSTTPVVSSE ARTLSATPVD TSTPVTTSTE
ATSSPTTAEG TSIPTSTPSE GTTPLTSTPV SHTLVANSEA STLSTTPVDS NTPLTTSTEA
SSPPPTAEGT SMPTSTPSEG STPLTRMPVS TTMVASSETS TLSTTPADTS TPVTTYSQAS
SSSTTADGTS MPTSTYSEGS TPLTSVPVST RLVVSSEAST LSTTPVDTSI PVTTSTEASS
SPTTAEGTSI PTSPPSEGTT PLASMPVSTT LVVSSEANTL STTPVDSKTQ VATSTEASSP
PPTAEVTSMP TSTPGERSTP LTSMPVRHTP VASSEASTLS TSPVDTSTPV TTSAETSSSP
TTAEGTSLPT STTSEGSTLL TSIPVSTTLV TSPEASTLLT TPVDTKGPVV TSNEVSSSPT
PAEGTSMPTS TYSEGRTPLT SIPVNTTLVA SSAISILSTT PVDNSTPVTT STEACSSPTT
SEGTSMPNSN PSEGTTPLTS IPVSTTPVVS SEASTLSATP VDTSTPGTTS AEATSSPTTA
EGISIPTSTP SEGKTPLKSI PVSNTPVANS EASTLSTTPV DSNSPVVTST AVSSSPTPAE
GTSIAISTPS EGSTALTSIP VSTTTVASSE INSLSTTPAV TSTPVTTYSQ ASSSPTTADG
TSMQTSTYSE GSTPLTSLPV STMLVVSSEA NTLSTTPIDS KTQVTASTEA SSSTTAEGSS
MTISTPSEGS PLLTSIPVST TPVASPEAST LSTTPVDSNS PVITSTEVSS SPTPAEGTSM
PTSTYTEGRT PLTSITVRTT PVASSAISTL STTPVDNSTP VTTSTEARSS PTTSEGTSMP
NSTPSEGTTP LTSIPVSTTP VLSSEASTLS ATPIDTSTPV TTSTEATSSP TTAEGTSIPT
STLSEGMTPL TSTPVSHTLV ANSEASTLST TPVDSNSPVV TSTAVSSSPT PAEGTSIATS
TPSEGSTALT SIPVSTTTVA SSETNTLSTT PAVTSTPVTT YAQVSSSPTT ADGSSMPTST
PREGRPPLTS IPVSTTTVAS SEINTLSTTL ADTRTPVTTY SQASSSPTTA DGTSMPTPAY
SEGSTPLTSM PLSTTLVVSS EASTLSTTPV DTSTPATTST EGSSSPTTAG GTSIQTSTPS
ERTTPLAGMP VSTTLVVSSE GNTLSTTPVD SKTQVTNSTE ASSSATAEGS SMTISAPSEG
SPLLTSIPLS TTPVASPEAS TLSTTPVDSN SPVITSTEVS SSPIPTEGTS MQTSTYSDRR
TPLTSMPVST TVVASSAIST LSTTPVDTST PVTNSTEARS SPTTSEGTSM PTSTPSEGST
PFTSMPVSTM PVVTSEASTL SATPVDTSTP VTTSTEATSS PTTAEGTSIP TSTLSEGTTP
LTSIPVSHTL VANSEVSTLS TTPVDSNTPF TTSTEASSPP PTAEGTSMPT STSSEGNTPL
TRMPVSTTMV ASFETSTLST TPADTSTPVT TYSQAGSSPT TADDTSMPTS TYSEGSTPLT
SVPVSTMPVV SSEASTHSTT PVDTSTPVTT STEASSSPTT AEGTSIPTSP PSEGTTPLAS
MPVSTTPVVS SEAGTLSTTP VDTSTPMTTS TEASSSPTTA EDIVVPISTA SEGSTLLTSI
PVSTTPVASP EASTLSTTPV DSNSPVVTST EISSSATSAE GTSMPTSTYS EGSTPLRSMP
VSTKPLASSE ASTLSTTPVD TSIPVTTSTE TSSSPTTAKD TSMPISTPSE VSTSLTSILV
STMPVASSEA STLSTTPVDT RTLVTTSTGT SSSPTTAEGS SMPTSTPGER STPLTNILVS
TTLLANSEAS TLSTTPVDTS TPVTTSAEAS SSPTTAEGTS MRISTPSDGS TPLTSILVST
LPVASSEAST VSTTAVDTSI PVTTSTEASS SPTTAEVTSM PTSTPSETST PLTSMPVNHT
PVASSEAGTL STTPVDTSTP VTTSTKASSS PTTAEGIVVP ISTASEGSTL LTSIPVSTTP
VASSEASTLS TTPVDTSIPV TTSTEGSSSP TTAEGTSMPI STPSEVSTPL TSILVSTVPV
AGSEASTLST TPVDTRTPVT TSAEASSSPT TAEGTSMPIS TPGERRTPLT SMSVSTMPVA
SSEASTLSRT PADTSTPVTT STEASSSPTT AEGTGIPIST PSEGSTPLTS IPVSTTPVAI
PEASTLSTTP VDSNSPVVTS TEVSSSPTPA EGTSMPISTY SEGSTPLTGV PVSTTPVTSS
AISTLSTTPV DTSTPVTTST EAHSSPTTSE GTSMPTSTPS EGSTPLTYMP VSTMLVVSSE
DSTLSATPVD TSTPVTTSTE ATSSTTAEGT SIPTSTPSEG MTPLTSVPVS NTPVASSEAS
ILSTTPVDSN TPLTTSTEAS SSPPTAEGTS MPTSTPSEGS TPLTSMPVST TTVASSETST
LSTTPADTST PVTTYSQASS SPPIADGTSM PTSTYSEGST PLTNMSFSTT PVVSSEASTL
STTPVDTSTP VTTSTEASLS PTTAEGTSIP TSSPSEGTTP LASMPVSTTP VVSSEVNTLS
TTPVDSNTLV TTSTEASSSP TIAEGTSLPT STTSEGSTPL SIMPLSTTPV ASSEASTLST
TPVDTSTPVT TSSPTNSSPT TAEVTSMPTS TAGEGSTPLT NMPVSTTPVA SSEASTLSTT
PVDSNTFVTS SSQASSSPAT LQVTTMRMST PSEGSSSLTT MLLSSTYVTS SEASTPSTPS
VDRSTPVTTS TQSNSTPTPP EVITLPMSTP SEVSTPLTIM PVSTTSVTIS EAGTASTLPV
DTSTPVITST QVSSSPVTPE GTTMPIWTPS EGSTPLTTMP VSTTRVTSSE GSTLSTPSVV
TSTPVTTSTE AISSSATLDS TTMSVSMPME ISTLGTTILV STTPVTRFPE SSTPSIPSVY
TSMSMTTASE GSSSPTTLEG TTTMPMSTTS ERSTLLTTVL ISPISVMSPS EASTLSTPPG
DTSTPLLTST KAGSFSIPAE VTTIRISITS ERSTPLTTLL VSTTLPTSFP GASIASTPPL
DTSTTFTPST DTASTPTIPV ATTISVSVIT EGSTPGTTIF IPSTPVTSST ADVFPATTGA
VSTPVITSTE LNTPSTSSSS TTTSFSTTKE FTTPAMTTAA PLTYVTMSTA PSTPRTTSRG
CTTSASTLSA TSTPHTSTSV TTRPVTPSSE SSRPSTITSH TIPPTFPPAH SSTPPTTSAS
STTVNPEAVT TMTTRTKPST RTTSFPTVTT TAVPTNTTIK SNPTSTPTVP RTTTCFGDGC
QNTASRCKNG GTWDGLKCQC PNLYYGELCE EVVSSIDIGP PETISAQMEL TVTVTSVKFT
EELKNHSSQE FQEFKQTFTE QMNIVYSGIP EYVGVNITKL RLGSVVVEHD VLLRTKYTPE
YKTVLDNATE VVKEKITKVT TQQIMINDIC SDMMCFNTTG TQVQNITVTQ YDPEEDCRKM
AKEYGDYFVV EYRDQKPYCI SPCEPGFSVS KNCNLGKCQM SLSGPQCLCV TTETHWYSGE
TCNQGTQKSL VYGLVGAGVV LMLIILVALL MLVFRSKREV KRQKYRLSQL YKWQEEDSGP
APGTFQNIGF DICQDDDSIH LESIYSNFQP SLRHIDPETK IRIQRPQVMT TSF
