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MUC3A_HUMAN
ID   MUC3A_HUMAN             Reviewed;        3323 AA.
AC   Q02505; A6NP22; O14650; O14651; O43418; O43421; Q02506; Q6W763; Q9H3Q7;
AC   Q9UKW9; Q9UN93; Q9UN94; Q9UN95;
DT   01-JUN-1994, integrated into UniProtKB/Swiss-Prot.
DT   13-APR-2016, sequence version 3.
DT   03-AUG-2022, entry version 157.
DE   RecName: Full=Mucin-3A {ECO:0000305};
DE            Short=MUC-3A {ECO:0000305};
DE   AltName: Full=Intestinal mucin-3A {ECO:0000305|PubMed:12958310};
DE   Flags: Precursor;
GN   Name=MUC3A {ECO:0000312|HGNC:HGNC:7513};
GN   Synonyms=MUC3 {ECO:0000303|PubMed:10405327};
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=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   [2]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-340 (ISOFORM 1).
RX   PubMed=12958310; DOI=10.1074/jbc.m305769200;
RA   Gum J.R. Jr., Hicks J.W., Crawley S.C., Dahl C.M., Yang S.C.,
RA   Roberton A.M., Kim Y.S.;
RT   "Initiation of transcription of the MUC3A human intestinal mucin from a
RT   TATA-less promoter and comparison with the MUC3B amino terminus.";
RL   J. Biol. Chem. 278:49600-49609(2003).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 1003-1515 AND 1530-1969 (ISOFORM 1), AND
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 2097-3323 (ISOFORM 2).
RX   PubMed=9334251; DOI=10.1074/jbc.272.42.26678;
RA   Gum J.R. Jr., Ho J.J.L., Pratt W.S., Hicks J.W., Hill A.S., Vinall L.E.,
RA   Roberton A.M., Swallow D.M., Kim Y.S.;
RT   "MUC3 human intestinal mucin. Analysis of gene structure, the carboxyl
RT   terminus, and a novel upstream repetitive region.";
RL   J. Biol. Chem. 272:26678-26686(1997).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 2097-3323 (ISOFORM 1), ALTERNATIVE
RP   SPLICING (ISOFORMS 2; 3 AND 4), VARIANT ASN-3299, AND SUBCELLULAR LOCATION.
RC   TISSUE=Intestine;
RX   PubMed=10512748; DOI=10.1006/bbrc.1999.1466;
RA   Crawley S.C., Gum J.R. Jr., Hicks J.W., Pratt W.S., Aubert J.-P.,
RA   Swallow D.M., Kim Y.S.;
RT   "Genomic organization and structure of the 3' region of human MUC3:
RT   alternative splicing predicts membrane-bound and soluble forms of the
RT   mucin.";
RL   Biochem. Biophys. Res. Commun. 263:728-736(1999).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 2447-3323 (ISOFORM 1), TISSUE
RP   SPECIFICITY, AND VARIANTS ALA-3120; ASN-3299 AND HIS-3299.
RX   PubMed=11289722; DOI=10.1007/s100380170118;
RA   Kyo K., Muto T., Nagawa H., Lathrop G.M., Nakamura Y.;
RT   "Associations of distinct variants of the intestinal mucin gene MUC3A with
RT   ulcerative colitis and Crohn's disease.";
RL   J. Hum. Genet. 46:5-20(2001).
RN   [6]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 2958-3323 (ISOFORMS 1; 2 AND 5), AND
RP   FUNCTION.
RC   TISSUE=Colon mucosa, and Small intestine;
RX   PubMed=10405327; DOI=10.1006/bbrc.1999.1001;
RA   Williams S.J., Munster D.J., Quin R.J., Gotley D.C., McGuckin M.A.;
RT   "The MUC3 gene encodes a transmembrane mucin and is alternatively
RT   spliced.";
RL   Biochem. Biophys. Res. Commun. 261:83-89(1999).
RN   [7]
RP   PARTIAL NUCLEOTIDE SEQUENCE [MRNA].
RC   TISSUE=Small intestine;
RX   PubMed=2393399; DOI=10.1016/0006-291x(90)91408-k;
RA   Gum J.R. Jr., Hicks J.W., Swallow D.M., Lagace R.L., Byrd J.C.,
RA   Lamport D.T.A., Siddiki B., Kim Y.S.;
RT   "Molecular cloning of cDNAs derived from a novel human intestinal mucin
RT   gene.";
RL   Biochem. Biophys. Res. Commun. 171:407-415(1990).
RN   [8]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Cervix carcinoma;
RX   PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA   Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA   Elledge S.J., Gygi S.P.;
RT   "A quantitative atlas of mitotic phosphorylation.";
RL   Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
CC   -!- FUNCTION: Major glycoprotein component of a variety of mucus gels.
CC       Thought to provide a protective, lubricating barrier against particles
CC       and infectious agents at mucosal surfaces. May be involved in ligand
CC       binding and intracellular signaling. {ECO:0000269|PubMed:10405327}.
CC   -!- SUBCELLULAR LOCATION: [Isoform 1]: Membrane; Single-pass membrane
CC       protein {ECO:0000255}.
CC   -!- SUBCELLULAR LOCATION: [Isoform 2]: Secreted
CC       {ECO:0000303|PubMed:10512748}.
CC   -!- SUBCELLULAR LOCATION: [Isoform 3]: Secreted
CC       {ECO:0000303|PubMed:10512748}.
CC   -!- SUBCELLULAR LOCATION: [Isoform 4]: Secreted
CC       {ECO:0000303|PubMed:10512748}.
CC   -!- SUBCELLULAR LOCATION: [Isoform 5]: Secreted.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=5;
CC         Comment=Additional isoforms seem to exist.;
CC       Name=1;
CC         IsoId=Q02505-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q02505-2; Sequence=VSP_023229, VSP_023231;
CC       Name=3;
CC         IsoId=Q02505-3; Sequence=VSP_023230, VSP_023233;
CC       Name=4;
CC         IsoId=Q02505-4; Sequence=VSP_023232, VSP_023234;
CC       Name=5;
CC         IsoId=Q02505-5; Sequence=VSP_023235;
CC   -!- TISSUE SPECIFICITY: Broad specificity; small intestine, colon, colonic
CC       tumors, heart, liver, thymus, prostate, pancreas and gall bladder.
CC       {ECO:0000269|PubMed:11289722}.
CC   -!- PTM: Highly O-glycosylated and probably also N-glycosylated.
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   -!- SEQUENCE CAUTION:
CC       Sequence=AAA63772.1; Type=Miscellaneous discrepancy; Note=This sequence is incomplete at 5' and 3' ends and extensively differs from that shown.; Evidence={ECO:0000305};
CC       Sequence=AAA63773.1; Type=Miscellaneous discrepancy; Note=This sequence is incomplete at 5' and 3' ends and extensively differs from that shown.; Evidence={ECO:0000305};
CC       Sequence=AAC02271.1; Type=Frameshift; Evidence={ECO:0000305};
CC   -!- WEB RESOURCE: Name=Mucin database;
CC       URL="http://www.medkem.gu.se/mucinbiology/databases/";
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DR   EMBL; AC105446; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC118759; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC254629; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AY307930; AAQ73824.1; -; Genomic_DNA.
DR   EMBL; AF007190; AAC02268.1; -; mRNA.
DR   EMBL; AF007193; AAC02271.1; ALT_FRAME; mRNA.
DR   EMBL; AF007194; AAC02272.1; -; mRNA.
DR   EMBL; AF113616; AAF13032.1; -; Genomic_DNA.
DR   EMBL; AB038782; BAB12116.1; -; Genomic_DNA.
DR   EMBL; AF143371; AAD45882.1; -; mRNA.
DR   EMBL; AF143372; AAD45883.1; -; mRNA.
DR   EMBL; AF143373; AAD45884.1; -; mRNA.
DR   EMBL; M55405; AAA63772.1; ALT_SEQ; mRNA.
DR   EMBL; M55406; AAA63773.1; ALT_SEQ; mRNA.
DR   CCDS; CCDS78262.1; -. [Q02505-1]
DR   PIR; A35690; A35690.
DR   PIR; B35690; B35690.
DR   RefSeq; NP_005951.1; NM_005960.1. [Q02505-1]
DR   IntAct; Q02505; 1.
DR   STRING; 9606.ENSP00000368771; -.
DR   MEROPS; S71.002; -.
DR   iPTMnet; Q02505; -.
DR   PhosphoSitePlus; Q02505; -.
DR   BioMuta; MUC3A; -.
DR   DMDM; 126302571; -.
DR   jPOST; Q02505; -.
DR   MassIVE; Q02505; -.
DR   PaxDb; Q02505; -.
DR   PeptideAtlas; Q02505; -.
DR   PRIDE; Q02505; -.
DR   Antibodypedia; 1458; 370 antibodies from 21 providers.
DR   DNASU; 4584; -.
DR   Ensembl; ENST00000379458.9; ENSP00000368771.5; ENSG00000169894.18. [Q02505-1]
DR   Ensembl; ENST00000483366.5; ENSP00000483541.1; ENSG00000169894.18. [Q02505-5]
DR   GeneID; 4584; -.
DR   KEGG; hsa:4584; -.
DR   MANE-Select; ENST00000379458.9; ENSP00000368771.5; NM_005960.2; NP_005951.1.
DR   UCSC; uc033aad.2; human.
DR   UCSC; uc064gjo.1; human. [Q02505-1]
DR   CTD; 4584; -.
DR   DisGeNET; 4584; -.
DR   GeneCards; MUC3A; -.
DR   HGNC; HGNC:7513; MUC3A.
DR   HPA; ENSG00000169894; Tissue enhanced (gallbladder, intestine).
DR   MIM; 158371; gene.
DR   neXtProt; NX_Q02505; -.
DR   OpenTargets; ENSG00000169894; -.
DR   VEuPathDB; HostDB:ENSG00000169894; -.
DR   eggNOG; ENOG502SKUJ; Eukaryota.
DR   GeneTree; ENSGT00940000154419; -.
DR   HOGENOM; CLU_299695_0_0_1; -.
DR   InParanoid; Q02505; -.
DR   OMA; DTTHPPA; -.
DR   PathwayCommons; Q02505; -.
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   SignaLink; Q02505; -.
DR   BioGRID-ORCS; 4584; 0 hits in 144 CRISPR screens.
DR   ChiTaRS; MUC3A; human.
DR   GenomeRNAi; 4584; -.
DR   Pharos; Q02505; Tbio.
DR   PRO; PR:Q02505; -.
DR   Proteomes; UP000005640; Chromosome 7.
DR   RNAct; Q02505; protein.
DR   Bgee; ENSG00000169894; Expressed in mucosa of transverse colon and 117 other tissues.
DR   ExpressionAtlas; Q02505; baseline and differential.
DR   Genevisible; Q02505; HS.
DR   GO; GO:0005576; C:extracellular region; NAS:UniProtKB.
DR   GO; GO:0005796; C:Golgi lumen; TAS:Reactome.
DR   GO; GO:0016021; C:integral component of membrane; NAS:UniProtKB.
DR   GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR   GO; GO:0030197; F:extracellular matrix constituent, lubricant activity; NAS:UniProtKB.
DR   GO; GO:0005201; F:extracellular matrix structural constituent; NAS:UniProtKB.
DR   CDD; cd00055; EGF_Lam; 1.
DR   InterPro; IPR000742; EGF-like_dom.
DR   InterPro; IPR002049; LE_dom.
DR   InterPro; IPR000082; SEA_dom.
DR   InterPro; IPR036364; SEA_dom_sf.
DR   SMART; SM00181; EGF; 2.
DR   SMART; SM00200; SEA; 1.
DR   SUPFAM; SSF82671; SSF82671; 1.
DR   PROSITE; PS00022; EGF_1; 2.
DR   PROSITE; PS01186; EGF_2; 1.
DR   PROSITE; PS50026; EGF_3; 1.
DR   PROSITE; PS50024; SEA; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Disulfide bond; EGF-like domain; Glycoprotein;
KW   Membrane; Reference proteome; Repeat; Secreted; Signal; Transmembrane;
KW   Transmembrane helix.
FT   SIGNAL          1..15
FT                   /evidence="ECO:0000255"
FT   CHAIN           16..3323
FT                   /note="Mucin-3A"
FT                   /id="PRO_0000158955"
FT   TRANSMEM        3227..3247
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   REPEAT          1893..1910
FT                   /note="1"
FT   REPEAT          1911..1927
FT                   /note="2"
FT   REPEAT          1928..1944
FT                   /note="3"
FT   REPEAT          1945..1961
FT                   /note="4"
FT   REPEAT          1962..1978
FT                   /note="5"
FT   REPEAT          1979..1995
FT                   /note="6"
FT   REPEAT          1996..2012
FT                   /note="7"
FT   REPEAT          2013..2029
FT                   /note="8"
FT   REPEAT          2030..2046
FT                   /note="9"
FT   REPEAT          2047..2062
FT                   /note="10"
FT   REPEAT          2063..2079
FT                   /note="11"
FT   REPEAT          2080..2096
FT                   /note="12"
FT   REPEAT          2097..2113
FT                   /note="13"
FT   REPEAT          2114..2130
FT                   /note="14"
FT   REPEAT          2131..2147
FT                   /note="15"
FT   REPEAT          2148..2164
FT                   /note="16"
FT   REPEAT          2165..2191
FT                   /note="17"
FT   REPEAT          2192..2208
FT                   /note="18"
FT   REPEAT          2209..2225
FT                   /note="19"
FT   REPEAT          2226..2242
FT                   /note="20"
FT   REPEAT          2243..2259
FT                   /note="21"
FT   REPEAT          2260..2276
FT                   /note="22"
FT   REPEAT          2277..2293
FT                   /note="23"
FT   REPEAT          2294..2310
FT                   /note="24"
FT   REPEAT          2311..2327
FT                   /note="25"
FT   REPEAT          2328..2344
FT                   /note="26"
FT   REPEAT          2345..2361
FT                   /note="27"
FT   REPEAT          2362..2378
FT                   /note="28"
FT   REPEAT          2379..2395
FT                   /note="29"
FT   REPEAT          2396..2412
FT                   /note="30"
FT   REPEAT          2413..2429
FT                   /note="31"
FT   REPEAT          2430..2446
FT                   /note="32"
FT   DOMAIN          2976..3009
FT                   /note="EGF-like"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          3018..3143
FT                   /note="SEA"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00188"
FT   REGION          218..243
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          270..289
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          325..345
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          359..380
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          539..677
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          700..722
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          734..756
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          909..991
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          1170..1201
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          1318..1356
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          1380..1442
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          1484..1509
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          1714..1746
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          1793..1844
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          1893..2446
FT                   /note="32 X approximate tandem repeats, Ser/Thr-rich"
FT   REGION          1900..2056
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          2100..2447
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          2464..2508
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          2578..2608
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          2631..2656
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          2834..2858
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          2897..2937
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   DISULFID        2980..2986
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DISULFID        2999..3008
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   VAR_SEQ         3019..3063
FT                   /note="VVETEVGMEVSVDQQFSPDLNDNTSQAYRDFNKTFWNQMQKIFAD -> AED
FT                   FCRHAGLHLQGCGDPVPEEWQHRGGLPGPAGDALQPPAGERV (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:10405327,
FT                   ECO:0000303|PubMed:9334251"
FT                   /id="VSP_023229"
FT   VAR_SEQ         3057..3080
FT                   /note="MQKIFADMQGFTFKGVEILSLRNG -> EWQHRGGLPGPAGDALQPPAGERV
FT                   (in isoform 3)"
FT                   /evidence="ECO:0000305|PubMed:10512748"
FT                   /id="VSP_023230"
FT   VAR_SEQ         3064..3323
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:10405327,
FT                   ECO:0000303|PubMed:9334251"
FT                   /id="VSP_023231"
FT   VAR_SEQ         3078..3081
FT                   /note="RNGS -> SPVF (in isoform 4)"
FT                   /evidence="ECO:0000305|PubMed:10512748"
FT                   /id="VSP_023232"
FT   VAR_SEQ         3081..3323
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000305|PubMed:10512748"
FT                   /id="VSP_023233"
FT   VAR_SEQ         3082..3323
FT                   /note="Missing (in isoform 4)"
FT                   /evidence="ECO:0000305|PubMed:10512748"
FT                   /id="VSP_023234"
FT   VAR_SEQ         3204..3261
FT                   /note="Missing (in isoform 5)"
FT                   /evidence="ECO:0000303|PubMed:10405327"
FT                   /id="VSP_023235"
FT   VARIANT         3120
FT                   /note="V -> A (in dbSNP:rs6960868)"
FT                   /evidence="ECO:0000269|PubMed:11289722"
FT                   /id="VAR_030722"
FT   VARIANT         3299
FT                   /note="Y -> H (may be associated with Crohn disease;
FT                   dbSNP:rs10258821)"
FT                   /evidence="ECO:0000269|PubMed:11289722"
FT                   /id="VAR_030724"
FT   VARIANT         3299
FT                   /note="Y -> N (in dbSNP:rs10258821)"
FT                   /evidence="ECO:0000269|PubMed:10512748,
FT                   ECO:0000269|PubMed:11289722"
FT                   /id="VAR_030723"
FT   CONFLICT        258
FT                   /note="P -> S (in Ref. 1; AAQ73824)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        337
FT                   /note="T -> P (in Ref. 1; AAQ73824)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        1149
FT                   /note="L -> H (in Ref. 3; AAC02268)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        1234
FT                   /note="T -> K (in Ref. 3; AAC02268)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        1542
FT                   /note="P -> L (in Ref. 3; AAC02271)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        1570
FT                   /note="G -> D (in Ref. 3; AAC02271)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        1587
FT                   /note="S -> T (in Ref. 3; AAC02271)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        1640
FT                   /note="P -> S (in Ref. 3; AAC02271)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        1966..1969
FT                   /note="ETTS -> DSIV (in Ref. 3; AAC02271)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        2099
FT                   /note="T -> I (in Ref. 4; AAF13032 and 3; AAC02272)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        2110
FT                   /note="F -> Y (in Ref. 3; AAC02272 and 4; AAF13032)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        2112
FT                   /note="S -> T (in Ref. 3; AAC02272 and 4; AAF13032)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        2117
FT                   /note="S -> T (in Ref. 3; AAC02272 and 4; AAF13032)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        2119
FT                   /note="M -> T (in Ref. 3; AAC02272 and 4; AAF13032)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        2127
FT                   /note="F -> Y (in Ref. 3; AAC02272 and 4; AAF13032)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        2129
FT                   /note="S -> T (in Ref. 3; AAC02272 and 4; AAF13032)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        2136..2138
FT                   /note="NAT -> TPS (in Ref. 3; AAC02272 and 4; AAF13032)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        2143
FT                   /note="N -> S (in Ref. 3; AAC02272 and 4; AAF13032)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        2164..2166
FT                   /note="LIT -> SIR (in Ref. 3; AAC02272 and 4; AAF13032)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        2169..2178
FT                   /note="Missing (in Ref. 3; AAC02272 and 4; AAF13032)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        2322
FT                   /note="H -> R (in Ref. 3; AAC02272 and 4; AAF13032)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        2393
FT                   /note="T -> P (in Ref. 3; AAC02272)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        2956
FT                   /note="G -> GC (in Ref. 5; BAB12116)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   3323 AA;  345127 MW;  8C6E21ADD26637EF CRC64;
     MQLLGLLGLL WMLKASPWAT GTLSTATSIS QVPFPRAEAA SAVLSNSPHS RDLAGWPLGV
     PQLASPAPGH RENAPMTLTT SPHDTLISET LLNSPVSSNT STTPTSKFAF KVETTPPTVL
     VYSATTECVY PTSFIITISH PTSICVTTTQ VAFTSSYTST PVTQKPVTTV TSTYSMTTTE
     KGTSAMTSSP STTTARETPI VTVTPSSVSA TDTTFHTTIS STTRTTERTP LPTGSIHTTT
     SPTPVFTTLK TAVTSTSPIT SSITSTNTVT SMTTTASQPT ATNTLSSPTR TILSSTPVLS
     TETITSGITN TTPLSTLVTT LPTTISRSTP TSETTYTTSP TSTVTDSTTK IAYSTSMTGT
     LSTETSLPPT SSSLPTTETA TTPMTNLVTT TTEISSHSTP SFSSSTIYST VSTSTTAISS
     LPPTSGTMVT STTMTPSSLS TDIPFTTPTT ITHHSVGSTG FLTTATDLTS TFTVSSSSAM
     STSVIPSSPS IQNTETSSLV SMTSATTPNV RPTFVSTLST PTSSLLTTFP ATYSFSSSMS
     ASSAGTTHTE SISSPPASTS TLHTTAESTL APTTTTSFTT STTMEPPSTT AATTGTGQTT
     FTSSTATFPE TTTPTPTTDM STESLTTAMT SPPITSSVTS TNTVTSMTTT TSPPTTTNSF
     TSLTSMPLSS TPVPSTEVVT SGTINTIPPS ILVTTLPTPN ASSMTTSETT YPNSPTGPGT
     NSTTEITYPT TMTETSSTAT SLPPTSPLVS TAKTAKTPTT NLVTTTTKTT SHSTTSFTSS
     TVYSTASTYT TAITSVPTTL GTMVTSTSMI SSTVSTGIPT SQPTTITPSS VGISGSLPMM
     TDLTSVYTVS NMSARPTTVI PSSPTVQNTE ISISVSMTSA TTPSGGPTFT STENTPTRSL
     LTSFPMTHSF SSSMSESSAG TTHTESISSP RGTTSTLHTT VESTPSPTTT TSFTTSTMME
     PPSSTVSTTG RGQTTFPSST ATFPETTTLT PTTDISTVSL TTAMTSPPPV SSSITPTNTM
     TSMRTTTYWP TATNTLSPLT SSILSSTPVP STEMITSHTT NTTPLSTLVT TLLTTITRST
     PTSETTYPTS PTSIVSDSTT EITYSTSITG TLSTATTLPP TSSSLPTTET ATMTPTTTLI
     TTTPNTTSLS TPSFTSSTIY STVSTSTTAI SSASPTSGTM VTSTTMTPSS LSTDTPSTTP
     TTITYPSVGS TGFLTTATDL TSTFTVSSSS AMSTSVIPSS PSIQNTETSS LVSMTSATTP
     SLRPTITSTD STLTSSLLTT FPSTYSFSSS MSASSAGTTH TETISSLPAS TNTIHTTAES
     ALAPTTTTSF TTSPTMEPPS TTVATTGTGQ TTFPSSTATF LETTTLTPTT DFSTESLTTA
     MTSTPPITSS ITPTDTMTSM RTTTSWPTAT NTLSPLTSSI LSSTPVPSTE VTTSHTTNTN
     PVSTLVTTLP ITITRSTLTS ETAYPSSPTS TVTESTTEIT YPTTMTETSS TATSLPPTSS
     LVSTAETAKT PTTNLVTTTT KTTSHSTTSF TSSTIYSTAS TPTTAITSVP TTLGTMVTST
     SMIPSTVSTG IPTSQPTTIT PSSVGISGSL PMMTDLTSVY TVSSMSARPT SVIPSSPTVQ
     NTETSIFVSM MSATTPSGGP TFTSTENTPT RSLLTSFPVT HSFSSSMSAS SVGTTHTQSI
     SSPPAITSTL HTTAESTPSP TTTMSFTTFT KMETPSSTVA TTGTGQTTFT SSTATSPKTT
     TLTPTSDIST GSFKTAVSST PPITSSITST YTVTSMTTTT PLGPTATNTL PSFTSSVSSS
     TPVPSTEAIT SGTTNTTPLS TLVTTFSNSD TSSTPTSETT YPTSLTSALT DSTTRTTYST
     NMTGTLSTVT SLRPTSSSLL TTVTATVPTT NLVTTTTKIT SHSTPSFTSS IATTETPSHS
     TPRFTSSITT TETPSHSTPR FTSSITNTKT TSHSSPSFTS SITTTETTSH NTPSLTSSIT
     TTKTTSHSTP SYTSLITTTT TTSHSTPSFT SSITTTETTS HNTPSLTSSI TTTETTSHST
     PSFTSSITTE TTSHSTPSFT SLITITEITS HSTLSYTTSI TTTETPSHST LSFTSSITTT
     ETTSHSTPSF TSSITTSEMP SHSTPSFTSS ITTTENATHS TPNFTSSITT TETTSHSTPS
     FTSLITTTET TSHRWGTTET TSYSTPSFTS SNTITETTSH STPSYITSIT TTETPSSSTP
     SFSSSITTTE TTSHSTPGFT SSITTTETTS HSTPSFTSSI TTTETTSHDT PSFTSSITTS
     ETPSHSTPSS TSLITTTKTT SHSTPSFTSS ITTTETTSHS AHSFTSSITT TETTSHNTRS
     FTSSITTTET NSHSTTSFTS SITTTETTSH STPSFSSSIT TTETPLHSTP GLTSWVTTTK
     TTSHITPGLT SSITTTETTS HSTPGFTSSI TTTETTSEST PSLSSSTIYS TVSTSTTAIT
     SHFTTSETAV TPTPVTPSSL STDIPTTSLR TLTPSSVGTS TSLTTTTDFP SIPTDISTLP
     TRTHIISSSP SIQSTETSSL VGTTSPTMST VRMTLRITEN TPISSFSTSI VVIPETPTQT
     PPVLTSATGT QTSPAPTTVT FGSTDSSTST LHTLTPSTAL STIVSTSQVP IPSTHSSTLQ
     TTPSTPSLQT SLTSTSEFTT ESFTRGSTST NAILTSFSTI IWSSTPTIIM SSSPSSASIT
     PVFSTTIHSV PSSPYIFSTE NVGSASITGF PSLSSSATTS TSSTSSSLTT ALTEITPFSY
     ISLPSTTPCP GTITITIVPA SPTDPCVEMD PSTEATSPPT TPLTVFPFTT EMVTCPTSIS
     IQTTLTTYMD TSSMMPESES SISPNASSST GTGTVPTNTV FTSTRLPTSE TWLSNSSVIP
     LPLPGVSTIP LTMKPSSSLP TILRTSSKST HPSPPTTRTS ETPVATTQTP TTLTSRRTTR
     ITSQMTTQST LTTTAGTCDN GGTWEQGQCA CLPGFSGDRC QLQTRCQNGG QWDGLKCQCP
     STFYGSSCEF AVEQVDLDVV ETEVGMEVSV DQQFSPDLND NTSQAYRDFN KTFWNQMQKI
     FADMQGFTFK GVEILSLRNG SIVVDYLVLL EMPFSPQLES EYEQVKTTLK EGLQNASQDV
     NSCQDSQTLC FKPDSIKVNN NSKTELTPAA ICRRAAPTGY EEFYFPLVEA TRLRCVTKCT
     SGVDNAIDCH QGQCVLETSG PTCRCYSTDT HWFSGPRCEV AVHWRALVGG LTAGAALLVL
     LLLALGVRAV RSGWWGGQRR GRSWDQDRKW FETWDEEVVG TFSNWGFEDD GTDKDTNFYV
     ALENVDTTMK VHIKRPEMTS SSV
 
 
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