ZAN_HUMAN
ID ZAN_HUMAN Reviewed; 2812 AA.
AC Q9Y493; A0A087WU49; A0FKC8; D6W5W4; O00218; Q96L85; Q96L86; Q96L87; Q96L88;
AC Q96L89; Q96L90; Q9BXN9; Q9BZ83; Q9BZ84; Q9BZ85; Q9BZ86; Q9BZ87; Q9BZ88;
DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT 12-SEP-2018, sequence version 5.
DT 03-AUG-2022, entry version 180.
DE RecName: Full=Zonadhesin;
DE Flags: Precursor;
GN Name=ZAN;
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; 2; 3; 4; 5 AND 6).
RC TISSUE=Testis;
RA Cheung T.L., Wassler M.J., Cornwall G.A., Hardy D.M.;
RT "Multiple intra-species variants of human zonadhesin.";
RL Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS HIS-430; LEU-1969; THR-2035
RP AND PRO-2111.
RX PubMed=17033959; DOI=10.1086/508473;
RA Gasper J., Swanson W.J.;
RT "Molecular population genetics of the gene encoding the human fertilization
RT protein zonadhesin reveals rapid adaptive evolution.";
RL Am. J. Hum. Genet. 79:820-830(2006).
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS HIS-430; LEU-1969;
RP MET-1995; THR-2035 AND PRO-2111.
RX PubMed=9799793; DOI=10.1101/gr.8.10.1060;
RA Gloeckner G., Scherer S., Schattevoy R., Boright A.P., Weber J.,
RA Tsui L.-C., Rosenthal A.;
RT "Large-scale sequencing of two regions in human chromosome 7q22: analysis
RT of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17
RT genes.";
RL Genome Res. 8:1060-1073(1998).
RN [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1810-2812 (ISOFORM 1), AND VARIANTS
RP LEU-1969; THR-2035 AND PRO-2111.
RX PubMed=11239002; DOI=10.1093/nar/29.6.1352;
RA Wilson M.D., Riemer C., Martindale D.W., Schnupf P., Boright A.P.,
RA Cheung T.L., Hardy D.M., Schwartz S., Scherer S.W., Tsui L.-C., Miller W.,
RA Koop B.F.;
RT "Comparative analysis of the gene-dense ACHE/TFR2 region on human
RT chromosome 7q22 with the orthologous region on mouse chromosome 5.";
RL Nucleic Acids Res. 29:1352-1365(2001).
RN [7]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 2375-2683 (ISOFORM 7).
RC TISSUE=Testis;
RX PubMed=9126492; DOI=10.1006/geno.1997.4620;
RA Gao Z., Harumi T., Garbers D.L.;
RT "Chromosome localization of the mouse zonadhesin gene and the human
RT zonadhesin gene (ZAN).";
RL Genomics 41:119-122(1997).
RN [8]
RP SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
RX PubMed=14759258; DOI=10.1186/gb-2004-5-2-r8;
RA Hillman R.T., Green R.E., Brenner S.E.;
RT "An unappreciated role for RNA surveillance.";
RL Genome Biol. 5:R8.1-R8.16(2004).
CC -!- FUNCTION: Binds in a species-specific manner to the zona pellucida of
CC the egg. May be involved in gamete recognition and/or signaling.
CC -!- SUBUNIT: Probably forms covalent oligomers.
CC -!- SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane
CC protein. Note=Exclusively on the apical region of the sperm head.
CC {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=7;
CC Name=3;
CC IsoId=Q9Y493-1; Sequence=Displayed;
CC Name=1;
CC IsoId=Q9Y493-2; Sequence=VSP_001430, VSP_001431;
CC Name=2;
CC IsoId=Q9Y493-3; Sequence=VSP_001428, VSP_001429;
CC Name=4;
CC IsoId=Q9Y493-4; Sequence=VSP_001424, VSP_001425;
CC Name=5;
CC IsoId=Q9Y493-5; Sequence=VSP_001420, VSP_001421;
CC Name=6;
CC IsoId=Q9Y493-6; Sequence=VSP_001422, VSP_001423;
CC Name=7;
CC IsoId=Q9Y493-7; Sequence=VSP_001426, VSP_001427;
CC -!- TISSUE SPECIFICITY: In testis, primarily in haploid spermatids.
CC -!- DOMAIN: The MAM domains probably mediate sperm adhesion to the zona
CC pellucida.
CC -!- DOMAIN: During sperm migration through the reproductive tracts, the
CC mucin-like domain might inhibit inappropriate trapping of spermatozoa
CC or promoting adhesion to the oviductal isthmus.
CC -!- DOMAIN: The VWFD domain 2 may mediate covalent oligomerization.
CC {ECO:0000250}.
CC -!- MISCELLANEOUS: [Isoform 1]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 4]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 5]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAC78790.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=EAW76487.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=EAW76488.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=EAW76489.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=EAW76490.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=EAW76491.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=EAW76492.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AF332975; AAK01431.1; -; mRNA.
DR EMBL; AF332976; AAK01432.1; -; mRNA.
DR EMBL; AF332977; AAK01433.1; -; mRNA.
DR EMBL; AF332978; AAK01434.1; -; mRNA.
DR EMBL; AF332979; AAK01435.1; -; mRNA.
DR EMBL; AF332980; AAK01436.1; -; mRNA.
DR EMBL; EF025894; ABJ98522.1; -; Genomic_DNA.
DR EMBL; AY046055; AAL04410.1; -; Genomic_DNA.
DR EMBL; AY046055; AAL04411.1; -; Genomic_DNA.
DR EMBL; AY046055; AAL04412.1; -; Genomic_DNA.
DR EMBL; AY046055; AAL04413.1; -; Genomic_DNA.
DR EMBL; AY046055; AAL04414.1; -; Genomic_DNA.
DR EMBL; AY046055; AAL04415.1; -; Genomic_DNA.
DR EMBL; AC009488; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC011895; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; KF570250; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471091; EAW76487.1; ALT_SEQ; Genomic_DNA.
DR EMBL; CH471091; EAW76488.1; ALT_SEQ; Genomic_DNA.
DR EMBL; CH471091; EAW76489.1; ALT_SEQ; Genomic_DNA.
DR EMBL; CH471091; EAW76490.1; ALT_SEQ; Genomic_DNA.
DR EMBL; CH471091; EAW76491.1; ALT_SEQ; Genomic_DNA.
DR EMBL; CH471091; EAW76492.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AF053356; AAC78790.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AF312032; AAK21011.1; -; Genomic_DNA.
DR EMBL; U83191; AAC51208.1; -; mRNA.
DR CCDS; CCDS47663.2; -. [Q9Y493-6]
DR CCDS; CCDS47664.2; -. [Q9Y493-1]
DR RefSeq; NP_003377.2; NM_003386.2. [Q9Y493-1]
DR RefSeq; NP_775082.2; NM_173059.2. [Q9Y493-6]
DR SMR; Q9Y493; -.
DR BioGRID; 113294; 1.
DR STRING; 9606.ENSP00000480750; -.
DR GlyGen; Q9Y493; 11 sites.
DR iPTMnet; Q9Y493; -.
DR PhosphoSitePlus; Q9Y493; -.
DR BioMuta; ZAN; -.
DR EPD; Q9Y493; -.
DR jPOST; Q9Y493; -.
DR PeptideAtlas; Q9Y493; -.
DR PRIDE; Q9Y493; -.
DR ProteomicsDB; 86132; -. [Q9Y493-1]
DR ProteomicsDB; 86133; -. [Q9Y493-2]
DR ProteomicsDB; 86134; -. [Q9Y493-3]
DR ProteomicsDB; 86135; -. [Q9Y493-4]
DR ProteomicsDB; 86136; -. [Q9Y493-5]
DR ProteomicsDB; 86137; -. [Q9Y493-6]
DR ProteomicsDB; 86138; -. [Q9Y493-7]
DR Antibodypedia; 73512; 44 antibodies from 8 providers.
DR DNASU; 7455; -.
DR Ensembl; ENST00000538115.5; ENSP00000445091.2; ENSG00000146839.19. [Q9Y493-4]
DR Ensembl; ENST00000542585.5; ENSP00000444427.2; ENSG00000146839.19. [Q9Y493-3]
DR Ensembl; ENST00000546213.5; ENSP00000441117.2; ENSG00000146839.19. [Q9Y493-5]
DR Ensembl; ENST00000546292.2; ENSP00000445943.2; ENSG00000146839.19. [Q9Y493-6]
DR Ensembl; ENST00000613979.5; ENSP00000480750.1; ENSG00000146839.19. [Q9Y493-1]
DR Ensembl; ENST00000618565.4; ENSP00000478371.1; ENSG00000146839.19. [Q9Y493-1]
DR Ensembl; ENST00000620596.4; ENSP00000481742.1; ENSG00000146839.19. [Q9Y493-6]
DR GeneID; 7455; -.
DR KEGG; hsa:7455; -.
DR MANE-Select; ENST00000613979.5; ENSP00000480750.1; NM_003386.3; NP_003377.2.
DR UCSC; uc032zzh.1; human.
DR CTD; 7455; -.
DR DisGeNET; 7455; -.
DR GeneCards; ZAN; -.
DR HGNC; HGNC:12857; ZAN.
DR HPA; ENSG00000146839; Not detected.
DR MIM; 602372; gene.
DR neXtProt; NX_Q9Y493; -.
DR OpenTargets; ENSG00000146839; -.
DR PharmGKB; PA37446; -.
DR VEuPathDB; HostDB:ENSG00000146839; -.
DR eggNOG; KOG1216; Eukaryota.
DR GeneTree; ENSGT00940000156850; -.
DR InParanoid; Q9Y493; -.
DR OMA; NHTRGCF; -.
DR OrthoDB; 22053at2759; -.
DR PhylomeDB; Q9Y493; -.
DR PathwayCommons; Q9Y493; -.
DR BioGRID-ORCS; 7455; 3 hits in 193 CRISPR screens.
DR ChiTaRS; ZAN; human.
DR GenomeRNAi; 7455; -.
DR Pharos; Q9Y493; Tbio.
DR PRO; PR:Q9Y493; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q9Y493; protein.
DR Bgee; ENSG00000146839; Expressed in left testis and 2 other tissues.
DR GO; GO:0031012; C:extracellular matrix; IBA:GO_Central.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; NAS:UniProtKB.
DR GO; GO:0007339; P:binding of sperm to zona pellucida; NAS:UniProtKB.
DR GO; GO:0098609; P:cell-cell adhesion; NAS:UniProtKB.
DR CDD; cd06263; MAM; 3.
DR InterPro; IPR013320; ConA-like_dom_sf.
DR InterPro; IPR000742; EGF-like_dom.
DR InterPro; IPR000998; MAM_dom.
DR InterPro; IPR036084; Ser_inhib-like_sf.
DR InterPro; IPR002919; TIL_dom.
DR InterPro; IPR025615; TILa_dom.
DR InterPro; IPR014853; Unchr_dom_Cys-rich.
DR InterPro; IPR001007; VWF_dom.
DR InterPro; IPR001846; VWF_type-D.
DR Pfam; PF08742; C8; 4.
DR Pfam; PF00629; MAM; 3.
DR Pfam; PF01826; TIL; 4.
DR Pfam; PF12714; TILa; 5.
DR Pfam; PF00094; VWD; 4.
DR SMART; SM00832; C8; 4.
DR SMART; SM00181; EGF; 4.
DR SMART; SM00137; MAM; 3.
DR SMART; SM00214; VWC; 4.
DR SMART; SM00215; VWC_out; 4.
DR SMART; SM00216; VWD; 4.
DR SUPFAM; SSF49899; SSF49899; 3.
DR SUPFAM; SSF57567; SSF57567; 4.
DR PROSITE; PS00022; EGF_1; 1.
DR PROSITE; PS01186; EGF_2; 4.
DR PROSITE; PS50026; EGF_3; 1.
DR PROSITE; PS00740; MAM_1; 1.
DR PROSITE; PS50060; MAM_2; 3.
DR PROSITE; PS51233; VWFD; 4.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell adhesion; Cell membrane; Disulfide bond;
KW EGF-like domain; Glycoprotein; Membrane; Reference proteome; Repeat;
KW Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..17
FT /evidence="ECO:0000255"
FT CHAIN 18..2812
FT /note="Zonadhesin"
FT /id="PRO_0000007783"
FT TOPO_DOM 18..2757
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 2758..2778
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 2779..2812
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 39..204
FT /note="MAM 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00128"
FT DOMAIN 209..368
FT /note="MAM 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00128"
FT DOMAIN 371..536
FT /note="MAM 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00128"
FT DOMAIN 1044..1093
FT /note="TIL 1"
FT DOMAIN 1103..1148
FT /note="VWFC 1"
FT DOMAIN 1154..1331
FT /note="VWFD 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00580"
FT DOMAIN 1426..1479
FT /note="TIL 2"
FT DOMAIN 1480..1535
FT /note="VWFC 2"
FT DOMAIN 1540..1720
FT /note="VWFD 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00580"
FT DOMAIN 1812..1867
FT /note="TIL 3"
FT DOMAIN 1868..1924
FT /note="VWFC 3"
FT DOMAIN 1929..2108
FT /note="VWFD 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00580"
FT DOMAIN 2211..2267
FT /note="TIL 4"
FT DOMAIN 2268..2329
FT /note="VWFC 4"
FT DOMAIN 2329..2505
FT /note="VWFD 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00580"
FT DOMAIN 2652..2797
FT /note="VWFC 5"
FT DOMAIN 2708..2744
FT /note="EGF-like"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT REGION 61..84
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 545..884
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 573..1041
FT /note="66 X heptapeptide repeats (approximate) (mucin-like
FT domain)"
FT REGION 904..929
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1302..1323
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 548..580
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 595..609
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 641..676
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 690..714
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 724..770
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 788..816
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 823..847
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 333
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 493
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1112
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1188
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1685
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1804
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1900
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1946
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2203
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2542
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2701
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 1156..1291
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00580"
FT DISULFID 1178..1330
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00580"
FT DISULFID 1542..1680
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00580"
FT DISULFID 1564..1719
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00580"
FT DISULFID 1931..2069
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00580"
FT DISULFID 1953..2107
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00580"
FT DISULFID 2331..2468
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00580"
FT DISULFID 2712..2723
FT /evidence="ECO:0000250"
FT DISULFID 2717..2732
FT /evidence="ECO:0000250"
FT DISULFID 2734..2743
FT /evidence="ECO:0000250"
FT VAR_SEQ 2597..2724
FT /note="HGVSSRYHISELYDTLPSILCQPGRPRGLRGPLRGRLRQHPRLCLQWHPEPP
FT LADCGCTSNGIYYQLGSSFLTEDCSQRCTCASSRILLCEPFSCRAGEVCTLGNHTQGCF
FT PESPCLQNPCQNDGQCR -> YAILCQEAGAALAGWRDRTLCAMECPAGTIYQSCMTPC
FT PASCANLADPGDCEGPCVEGCASIPGYAYSGTQSLPWLTVAAPAMASTTRSELAAGGPG
FT EQRRQGEPDQGWNWNVSSWPFPFLAGQQLSD (in isoform 1)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_001430"
FT VAR_SEQ 2597..2689
FT /note="HGVSSRYHISELYDTLPSILCQPGRPRGLRGPLRGRLRQHPRLCLQWHPEPP
FT LADCGCTSNGIYYQLGSSFLTEDCSQRCTCASSRILLCEPF -> YAILCQEAGAALAG
FT WRDRTLCAMECPAGTIYQSCMTPCPASCANLADPGDCEGPCVEGCASIPGYAYSGTQSL
FT PWLTVAAPAMASTTSWAAAF (in isoform 2)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_001428"
FT VAR_SEQ 2597..2636
FT /note="HGVSSRYHISELYDTLPSILCQPGRPRGLRGPLRGRLRQH -> YAILCQEA
FT GAALAGWRDRTLCAMECPAGTIYQSCMTPCPASCANLADPGDCEGPCVEGCAD (in
FT isoform 7)"
FT /evidence="ECO:0000303|PubMed:9126492"
FT /id="VSP_001426"
FT VAR_SEQ 2597..2624
FT /note="HGVSSRYHISELYDTLPSILCQPGRPRG -> YAILCQEAGAALAGWRDRTL
FT CAGQQLSD (in isoform 4)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_001424"
FT VAR_SEQ 2597..2617
FT /note="HGVSSRYHISELYDTLPSILC -> YAILCQEAGAALAGWRDRTLC (in
FT isoform 6)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_001422"
FT VAR_SEQ 2597..2601
FT /note="HGVSS -> WAAAF (in isoform 5)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_001420"
FT VAR_SEQ 2602..2812
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_001421"
FT VAR_SEQ 2618..2708
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_001423"
FT VAR_SEQ 2625..2812
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_001425"
FT VAR_SEQ 2663..2666
FT /note="LGSS -> VRAGSRRPWGAEAPRRARPGMELERLLLALPFLAGQQ (in
FT isoform 7)"
FT /evidence="ECO:0000303|PubMed:9126492"
FT /id="VSP_001427"
FT VAR_SEQ 2690..2812
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_001429"
FT VAR_SEQ 2725..2812
FT /note="Missing (in isoform 1)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_001431"
FT VARIANT 16
FT /note="L -> F (in dbSNP:rs12673246)"
FT /id="VAR_064584"
FT VARIANT 113
FT /note="G -> A (in dbSNP:rs34828430)"
FT /id="VAR_061162"
FT VARIANT 412
FT /note="G -> S (in dbSNP:rs17162408)"
FT /id="VAR_055785"
FT VARIANT 430
FT /note="Q -> H (in dbSNP:rs221833)"
FT /evidence="ECO:0000269|PubMed:17033959,
FT ECO:0000269|PubMed:9799793"
FT /id="VAR_064585"
FT VARIANT 690
FT /note="S -> T (in dbSNP:rs13241461)"
FT /id="VAR_055786"
FT VARIANT 1012
FT /note="L -> R (in dbSNP:rs6942733)"
FT /id="VAR_055787"
FT VARIANT 1096
FT /note="F -> C (in dbSNP:rs221823)"
FT /id="VAR_055788"
FT VARIANT 1375
FT /note="A -> T (in dbSNP:rs2293767)"
FT /id="VAR_055789"
FT VARIANT 1674
FT /note="G -> C (in dbSNP:rs10953303)"
FT /id="VAR_055790"
FT VARIANT 1698
FT /note="L -> P (in dbSNP:rs10247980)"
FT /id="VAR_055791"
FT VARIANT 1742
FT /note="C -> R (in dbSNP:rs17147735)"
FT /id="VAR_055792"
FT VARIANT 1878
FT /note="P -> S (in dbSNP:rs314298)"
FT /id="VAR_055793"
FT VARIANT 1903
FT /note="C -> Y (in dbSNP:rs12673041)"
FT /id="VAR_055794"
FT VARIANT 1922
FT /note="H -> C (requires 2 nucleotide substitutions;
FT dbSNP:rs314299)"
FT /id="VAR_064586"
FT VARIANT 1969
FT /note="F -> L (in dbSNP:rs542137)"
FT /evidence="ECO:0000269|PubMed:11239002,
FT ECO:0000269|PubMed:17033959, ECO:0000269|PubMed:9799793"
FT /id="VAR_064587"
FT VARIANT 1995
FT /note="I -> M (in dbSNP:rs541275)"
FT /evidence="ECO:0000269|PubMed:9799793"
FT /id="VAR_059278"
FT VARIANT 2035
FT /note="S -> T (in dbSNP:rs539445)"
FT /evidence="ECO:0000269|PubMed:11239002,
FT ECO:0000269|PubMed:17033959, ECO:0000269|PubMed:9799793"
FT /id="VAR_064588"
FT VARIANT 2073
FT /note="N -> S (in dbSNP:rs314300)"
FT /id="VAR_059279"
FT VARIANT 2111
FT /note="L -> P (in dbSNP:rs531503)"
FT /evidence="ECO:0000269|PubMed:11239002,
FT ECO:0000269|PubMed:17033959, ECO:0000269|PubMed:9799793"
FT /id="VAR_064589"
FT VARIANT 2334
FT /note="Y -> S (in dbSNP:rs60783739)"
FT /id="VAR_061163"
FT VARIANT 2349
FT /note="L -> F (in dbSNP:rs59541653)"
FT /id="VAR_061164"
FT VARIANT 2527
FT /note="T -> M (in dbSNP:rs3847059)"
FT /id="VAR_059280"
FT VARIANT 2643
FT /note="W -> R (in dbSNP:rs314339)"
FT /id="VAR_059281"
FT CONFLICT 1922
FT /note="H -> R (in Ref. 1; AAK01431/AAK01432/AAK01433/
FT AAK01434/AAK01435/AAK01436 and 4; EAW76487/EAW76488/
FT EAW76489/EAW76490/EAW76491/EAW76492)"
FT CONFLICT 2430
FT /note="W -> R (in Ref. 2; AAL04410/AAL04411/AAL04412/
FT AAL04413/AAL04414/AAL04415/ABJ98522, 6; AAK21011 and 7;
FT AAC51208)"
FT /evidence="ECO:0000305"
FT CONFLICT 2555
FT /note="G -> A (in Ref. 7; AAC51208)"
FT /evidence="ECO:0000305"
FT CONFLICT 2565
FT /note="A -> P (in Ref. 7; AAC51208)"
FT /evidence="ECO:0000305"
FT CONFLICT 2761
FT /note="G -> A (in Ref. 1; AAK01433)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 2812 AA; 305630 MW; 905BF4706FCC10F2 CRC64;
MVPPVWTLLL LVGAALFRKE KPPDQKLVVR SSRDNYVLTQ CDFEDDAKPL CDWSQVSADD
EDWVRASGPS PTGSTGAPGG YPNGEGSYLH MESNSFHRGG VARLLSPDLW EQGPLCVHFA
HHMFGLSWGA QLRLLLLSGE EGRRPDVLWK HWNTQRPSWM LTTVTVPAGF TLPTRLMFEG
TRGSTAYLDI ALDALSIRRG SCNRVCMMQT CSFDIPNDLC DWTWIPTASG AKWTQKKGSS
GKPGVGPDGD FSSPGSGCYM LLDPKNARPG QKAVLLSPVS LSSGCLSFSF HYILRGQSPG
AALHIYASVL GSIRKHTLFS GQPGPNWQAV SVNYTAVGRI QFAVVGVFGK TPEPAVAVDA
TSIAPCGEGF PQCDFEDNAH PFCDWVQTSG DGGHWALGHK NGPVHGMGPA GGFPNAGGHY
IYLEADEFSQ AGQSVRLVSR PFCAPGDICV EFAYHMYGLG EGTMLELLLG SPAGSPPIPL
WKRVGSQRPY WQNTSVTVPS GHQQPMQLIF KGIQGSNTAS VVAMGFILIN PGTCPVKVLP
ELPPVSPVSS TGPSETTGLT ENPTISTKKP TVSIEKPSVT TEKPTVPKEK PTIPTEKPTI
STEKPTIPSE KPNMPSEKPT IPSEKPTILT EKPTIPSEKP TIPSEKPTIS TEKPTVPTEE
PTTPTEETTT SMEEPVIPTE KPSIPTEKPS IPTEKPTISM EETIISTEKP TISPEKPTIP
TEKPTIPTEK STISPEKPTT PTEKPTIPTE KPTISPEKPT TPTEKPTISP EKLTIPTEKP
TIPTEKPTIP TEKPTISTEE PTTPTEETTI STEKPSIPME KPTLPTEETT TSVEETTIST
EKLTIPMEKP TISTEKPTIP TEKPTISPEK LTIPTEKLTI PTEKPTIPIE ETTISTEKLT
IPTEKPTISP EKPTISTEKP TIPTEKPTIP TEETTISTEK LTIPTEKPTI SPEKLTIPTE
KPTISTEKPT IPTEKLTIPT EKPTIPTEKP TIPTEKLTAL RPPHPSPTAT GLAALVMSPH
APSTPMTSVI LGTTTTSRSS TERCPPNARY ESCACPASCK SPRPSCGPLC REGCVCNPGF
LFSDNHCIQA SSCNCFYNND YYEPGAEWFS PNCTEHCRCW PGSRVECQIS QCGTHTVCQL
KNGQYGCHPY AGTATCLVYG DPHYVTFDGR HFGFMGKCTY ILAQPCGNST DPFFRVTAKN
EEQGQEGVSC LSKVYVTLPE STVTLLKGRR TLVGGQQVTL PAIPSKGVFL GASGRFVELQ
TEFGLRVRWD GDQQLYVTVS STYSGKLCGL CGNYDGNSDN DHLKLDGSPA GDKEELGNSW
QTDQDEDQEC QKYQVVNSPS CDSSLQSSMS GPGFCGRLVD THGPFETCLL HVKAASFFDS
CMLDMCGFQG LQHLLCTHMS TMTTTCQDAG HAVKPWREPH FCPMACPPNS KYSLCAKPCP
DTCHSGFSGM FCSDRCVEAC ECNPGFVLSG LECIPRSQCG CLHPAGSYFK VGERWYKPGC
KELCVCESNN RIRCQPWRCR AQEFCGQQDG IYGCHAQGAA TCTASGDPHY LTFDGALHHF
MGTCTYVLTR PCWSRSQDSY FVVSATNENR GGILEVSYIK AVHVTVFDLS ISLLRGCKVM
LNGHRVALPV WLAQGRVTIR LSSNLVLLYT NFGLQVRYDG SHLVEVTVPS SYGGQLCGLC
GNYNNNSLDD NLRPDRKLAG DSMQLGAAWK LPESSEPGCF LVGGKPSSCQ ENSMADAWNK
NCAILINPQG PFSQCHQVVP PQSSFASCVH GQCGTKGDTT ALCRSLQAYA SLCAQAGQAP
AWRNRTFCPM RCPPGSSYSP CSSPCPDTCS SINNPRDCPK ALPCAESCEC QKGHILSGTS
CVPLGQCGCT DPAGSYHPVG ERWYTENTCT RLCTCSVHNN ITCFQSTCKP NQICWALDGL
LHCRASGVGV CQLPGESHYV SFDGSNHSIP DACTLVLVKV CHPAMALPFF KISAKHEKEE
GGTEAFRLHE VYIDIYDAQV TLQKGHRVLI NSKQVTLPAI SQIPGVSVKS SSIYSIVNIK
IGVQVKFDGN HLLEIEIPTT YYGKVCGMCG NFNDEEEDEL MMPSDEVANS DSEFVNSWKD
KDIDPSCQSL LVDEQQIPAE QQENPSGNCR AADLRRAREK CEAALRAPVW AQCASRIDLT
PFLVDCANTL CEFGGLYQAL CQALQAFGAT CQSQGLKPPL WRNSSFCPLE CPAYSSYTNC
LPSCSPSCWD LDGRCEGAKV PSACAEGCIC QPGYVLSEDK CVPRSQCGCK DAHGGSIPLG
KSWVSSGCTE KCVCTGGAIQ CGDFRCPSGS HCQLTSDNSN SNCVSDKSEQ CSVYGDPRYL
TFDGFSYRLQ GRMTYVLIKT VDVLPEGVEP LLVEGRNKMD PPRSSIFLQE VITTVYGYKV
QLQAGLELVV NNQKMAVPYR PNEHLRVTLW GQRLYLVTDF ELVVSFGGRK NAVISLPSMY
EGLVSGLCGN YDKNRKNDMM LPSGALTQNL NTFGNSWEVK TEDALLRFPR AIPAEEEGQG
AELGLRTGLQ VSECSPEQLA SNSTQACRVL ADPQGPFAAC HQTVAPEPFQ EHCVLDLCSA
QDPREQEELR CQVLSGHGVS SRYHISELYD TLPSILCQPG RPRGLRGPLR GRLRQHPRLC
LQWHPEPPLA DCGCTSNGIY YQLGSSFLTE DCSQRCTCAS SRILLCEPFS CRAGEVCTLG
NHTQGCFPES PCLQNPCQND GQCREQGATF TCECEVGYGG GLCMEPRDAP PPRKPASNLV
GVLLGLLVPV VVVLLAVTRE CIYRTRRKRE KTQEGDRLAR LVDTDTVLDC AC
