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Q02505

- MUC3A_HUMAN

UniProt

Q02505 - MUC3A_HUMAN

Protein

Mucin-3A

Gene

MUC3A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 109 (01 Oct 2014)
      Sequence version 2 (20 Feb 2007)
      Previous versions | rss
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    Functioni

    Major glycoprotein component of a variety of mucus gels. Thought to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces. May be involved in ligand binding and intracellular signaling.1 Publication

    GO - Molecular functioni

    1. extracellular matrix constituent, lubricant activity Source: UniProtKB
    2. extracellular matrix structural constituent Source: UniProtKB

    GO - Biological processi

    1. cellular protein metabolic process Source: Reactome
    2. O-glycan processing Source: Reactome
    3. post-translational protein modification Source: Reactome

    Enzyme and pathway databases

    ReactomeiREACT_115606. O-linked glycosylation of mucins.
    REACT_115835. Termination of O-glycan biosynthesis.

    Protein family/group databases

    MEROPSiS71.002.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Mucin-3A
    Short name:
    MUC-3A
    Alternative name(s):
    Intestinal mucin-3A
    Gene namesi
    Name:MUC3A
    Synonyms:MUC3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:7513. MUC3A.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular region Source: UniProtKB
    2. Golgi lumen Source: Reactome
    3. integral component of membrane Source: UniProtKB

    Keywords - Cellular componenti

    Membrane, Secreted

    Pathology & Biotechi

    Organism-specific databases

    Orphaneti771. Ulcerative colitis.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2121Sequence AnalysisAdd
    BLAST
    Chaini22 – 25412520Mucin-3APRO_0000158955Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi2198 ↔ 2204PROSITE-ProRule annotation
    Disulfide bondi2217 ↔ 2226PROSITE-ProRule annotation

    Post-translational modificationi

    Highly O-glycosylated and probably also N-glycosylated.

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ02505.
    PRIDEiQ02505.

    PTM databases

    PhosphoSiteiQ02505.

    Expressioni

    Tissue specificityi

    Broad specificity; small intestine, colon, colonic tumors, heart, liver, thymus, prostate, pancreas and gall bladder.1 Publication

    Gene expression databases

    ArrayExpressiQ02505.
    BgeeiQ02505.
    GenevestigatoriQ02505.

    Organism-specific databases

    HPAiHPA010871.
    HPA047868.

    Interactioni

    Protein-protein interaction databases

    IntActiQ02505. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ02505.
    SMRiQ02505. Positions 2183-2228, 2409-2441.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei2445 – 246521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati1325 – 1341171Add
    BLAST
    Repeati1342 – 1358172Add
    BLAST
    Repeati1359 – 1375173Add
    BLAST
    Repeati1376 – 1392174Add
    BLAST
    Repeati1393 – 1409175Add
    BLAST
    Repeati1410 – 1426176Add
    BLAST
    Repeati1427 – 1443177Add
    BLAST
    Repeati1444 – 1460178Add
    BLAST
    Repeati1461 – 1477179Add
    BLAST
    Repeati1478 – 14941710Add
    BLAST
    Repeati1495 – 15111711Add
    BLAST
    Repeati1512 – 15281712Add
    BLAST
    Repeati1529 – 15451713Add
    BLAST
    Repeati1546 – 15621714Add
    BLAST
    Repeati1563 – 15791715Add
    BLAST
    Repeati1580 – 15961716Add
    BLAST
    Repeati1597 – 16131717Add
    BLAST
    Repeati1614 – 16301718Add
    BLAST
    Repeati1631 – 16471719Add
    BLAST
    Repeati1648 – 16641720Add
    BLAST
    Domaini2194 – 222734EGF-likePROSITE-ProRule annotationAdd
    BLAST
    Domaini2236 – 2361126SEAPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1325 – 166434017 X approximate tandem repeats, Ser/Thr-richAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi77 – 21752099Thr-richAdd
    BLAST
    Compositional biasi496 – 19651470Ser-richAdd
    BLAST

    Sequence similaritiesi

    Contains 1 EGF-like domain.PROSITE-ProRule annotation
    Contains 1 SEA domain.PROSITE-ProRule annotation

    Keywords - Domaini

    EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG12793.
    InParanoidiQ02505.

    Family and domain databases

    InterProiIPR000742. EG-like_dom.
    IPR013032. EGF-like_CS.
    IPR000082. SEA_dom.
    [Graphical view]
    PfamiPF01390. SEA. 1 hit.
    [Graphical view]
    SMARTiSM00181. EGF. 2 hits.
    SM00200. SEA. 1 hit.
    [Graphical view]
    SUPFAMiSSF82671. SSF82671. 1 hit.
    PROSITEiPS00022. EGF_1. 2 hits.
    PS01186. EGF_2. 1 hit.
    PS50026. EGF_3. 1 hit.
    PS50024. SEA. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist.

    Isoform 1 (identifier: Q02505-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MQLLGLLGLL WMLKASPWAT GTLSTATSIS QVPFPRAEAA SAVLSNSPHS     50
    RDLAGWPLGV PQLASPAPGH RENAPMTLTT SPHDTLISET LLNSPVSSNT 100
    STTPTSKFAF KVETTPPTVL VYSATTECVY PTSFIITISH PTSICVTTTQ 150
    VAFTSSYTST PVTQKPVTTV TSTYSMTTTE KGTSAMTSSP STTTARETPI 200
    VTVTPSSVSA TDTTFHTTIS STTRTTERTP LPTGSIHTTT SPTPVFTTLK 250
    TAVTSTSPIT SSITSTNTVT SMTTTASQPT ATNTLSSPTR TILSSTPVLS 300
    TETITSGITN TTPLSTLVTT LPTTISRSTP TSETTYPTSP XXXXXXXXXX 350
    AMTSPPPVSS SITPTNTMTS MRTTTYWPTA TNTLSPLTSS ILSSTPVPST 400
    EMITSHTTNT TPLSTLVTTL LTTITRSTPT SETTYPTSPT SIVSDSTTEI 450
    TYSTSITGTL STATTLPPTS SSLPTTETAT MTPTTTLITT TPNTTSHSTP 500
    SFTSSTIYST VSTSTTAISS ASPTSGTMVT STTMTPSSLS TDTPSTTPTT 550
    ITYPSVGSTG FLTTATDLTS TFTVSSSSAM SKSVIPSSPS IQNTETSSLV 600
    SMTSATTPSL RPTITSTDST LTSSLLTTFP STYSFSSSMS ASSAGTTHTE 650
    TISSLPASTN TIHTTAESAL APTTTTSFTT SPTMEPPSTT VATTGTGQTT 700
    FPSSTATFLE TTTLTPTTDF STESLTTAMT STPPITSSIT PTDTMTSMRT 750
    TTSWPTATNT LSPLTSSILS STPVPSTEVT TSHTTNTNPV STLVTTLPIT 800
    ITRSTLTSET AYPSSPTSTV TESTTEITYP TTMTETSSTA TSLPPTSSLV 850
    STAETAKTPT TNLXXXXXXX XXXFTSSTSL LHSQHTTXLP SPSVPTTLGT 900
    MVTSTSXIPS SLSTDIPTSQ PTTITPSSVG ITGSLPMMTD LTSVYTVSSM 950
    SARPTSVIPS SPTVQNTETS IFVSMMSATT PSGGSTFTST ENTPTRSLLT 1000
    SFPVTHSFSS SMSASSVGTT HTQSISSPPA ITSTLHTTAE STPSPTTTMS 1050
    FTTFTKMETP SSTVATTGTG QTTFTSSTAT SPKTTTLTPT SDISTGSFKT 1100
    AVSSTPPITS SITSTYTVTS MTTTTPLGPT ATNTLPSFTS SVSSSTPVPS 1150
    TEAITSGTTN TTPLSTLVTT FSNSDTSSTP TSETTYPTSL TSALTDSTTR 1200
    TTYSTNMTGT LSTVTSLRPT SSSLLTTVTA TVPTTNLVTT TTKITSHSTP 1250
    SFTSSIATTE TPSHSTPRFT SSITTTETPS HSTPRFTSSI TNTKTTSHSS 1300
    PSFTSSITTT DSIVXXXXXX XXXXITITET TSHSTPSYTT SITTTETPSH 1350
    STPSYTTSIT TTETPSHSTP SFTSSITTTE TTSHSTPSFT SSIRTTETTS 1400
    YSTPSFTSSN TITETTSHST PSYITSITTT ETPSSSTPSF SSSITTTEIS 1450
    SHSTPSFSSS TIYSTVTSHS TPRFTSSITT TETPSHSTPR FTSSFTNTKT 1500
    TSHRSPSFTS LITTTETTSH STPSFTSSIT TTETTSHSAR SFTSSITTTE 1550
    TTSHNTRSFT SSITTTETNS HSTTSFTSSI TTTETTSHST PSFSSSITTT 1600
    ETPLHSTPGL TSWVTTTKTT SHITPGLTSS ITTTETTSHS TPGFTSSITT 1650
    TETTSESTPS LSSSTIYSTV STSTTAITSH FTTSETAVTP TPVTPSSLST 1700
    DIPTTSLRTL TPSSVGTSTS LTTTTDFPSI PTDISTLPTR THIISSSPSI 1750
    QSTETSSLVG TTSPTMSTVR MTLRITENTP ISSFSTSIVV IPETPTQTPP 1800
    VLTSATGTQT SPAPTTVTFG STDSSTSTLH TLTPSTALST IVSTSQVPIP 1850
    STHSSTLQTT PSTPSLQTSL TSTSEFTTES FTRGSTSTNA ILTSFSTIIW 1900
    SSTPTIIMSS SPSSASITPV FSTTIHSVPS SPYIFSTENV GSASITGFPS 1950
    LSSSATTSTS STSSSLTTAL TEITPFSYIS LPSTTPCPGT ITITIVPASP 2000
    TDPCVEMDPS TEATSPPTTP LTVFPFTTEM VTCPTSISIQ TTLTTYMDTS 2050
    SMMPESESSI SPNASSSTGT GTVPTNTVFT STRLPTSETW LSNSSVIPLP 2100
    LPGVSTIPLT MKPSSSLPTI LRTSSKSTHP SPPTTRTSET PVATTQTPTT 2150
    LTSRRTTRIT SQMTTQSTLT TTAGTCDNGG TWEQGQCACL PGFSGDRCQL 2200
    QTRCQNGGQW DGLKCQCPST FYGSSCEFAV EQVDLDVVET EVGMEVSVDQ 2250
    QFSPDLNDNT SQAYRDFNKT FWNQMQKIFA DMQGFTFKGV EILSLRNGSI 2300
    VVDYLVLLEM PFSPQLESEY EQVKTTLKEG LQNASQDANS CQDSQTLCFK 2350
    PDSIKVNNNS KTELTPEAIC RRAAPTGYEE FYFPLVEATR LRCVTKCTSG 2400
    VDNAIDCHQG QCVLETSGPA CRCYSTDTHW FSGPRCEVAV HWRALVGGLT 2450
    AGAALLVLLL LALGVRAVRS GWWGGQRRGR SWDQDRKWFE TWDEEVVGTF 2500
    SNWGFEDDGT DKDTNFHVAL ENVDTTMKVH IKRPEMTSSS V 2541
    Length:2,541
    Mass (Da):265,918
    Last modified:February 20, 2007 - v2
    Checksum:iF1BEB775F9507760
    GO
    Isoform 2 (identifier: Q02505-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         2237-2284: VVETEVGMEV...MQKIFADMQG → AEDFCRHAGL...ALQPPAGERV
         2285-2541: Missing.

    Show »
    Length:2,281
    Mass (Da):236,332
    Checksum:i826DA98F3C19CFF9
    GO
    Isoform 3 (identifier: Q02505-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         2275-2298: MQKIFADMQGFTFKGVEILSLRNG → EWQHRGGLPGPAGDALQPPAGERV
         2299-2541: Missing.

    Show »
    Length:2,298
    Mass (Da):238,520
    Checksum:i6C1AC87258B27389
    GO
    Isoform 4 (identifier: Q02505-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         2296-2299: RNGS → SPVF
         2300-2541: Missing.

    Show »
    Length:2,299
    Mass (Da):238,859
    Checksum:i7298CD3D7EBEDB44
    GO
    Isoform 5 (identifier: Q02505-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         2422-2479: Missing.

    Show »
    Length:2,483
    Mass (Da):259,631
    Checksum:i3D15D516E62A5B82
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti258 – 2581P → S in AAQ73824. (PubMed:12958310)Curated
    Sequence conflicti1238 – 12381V → L in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1238 – 12381V → L in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1239 – 12391T → I in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1239 – 12391T → I in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1242 – 12454TKIT → SETP in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1242 – 12454TKIT → SETP in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1257 – 12571A → T in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1257 – 12571A → T in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1261 – 12611T → A in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1261 – 12611T → A in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1264 – 12641H → S in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1264 – 12641H → S in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1268 – 12681R → S in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1268 – 12681R → S in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1277 – 12771E → D in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1277 – 12771E → D in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1278 – 128811Missing in AAA63772. (PubMed:2393399)CuratedAdd
    BLAST
    Sequence conflicti1278 – 128811Missing in AAA63773. (PubMed:2393399)CuratedAdd
    BLAST
    Sequence conflicti1291 – 12922TN → VT in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1291 – 12922TN → VT in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1294 – 12941K → E in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1294 – 12941K → E in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1297 – 12971S → Y in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1297 – 12971S → Y in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1300 – 13001S → T in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1300 – 13001S → T in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1306 – 132318Missing in AAA63772. (PubMed:2393399)CuratedAdd
    BLAST
    Sequence conflicti1306 – 132318Missing in AAA63773. (PubMed:2393399)CuratedAdd
    BLAST
    Sequence conflicti1344 – 13463TTE → STK in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1344 – 13463TTE → STK in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1364 – 13641T → I in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1364 – 13641T → I in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1377 – 13771T → I in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1377 – 13771T → I in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1393 – 13964IRTT → MFNS in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1393 – 13964IRTT → MFNS in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1397 – 1504108Missing in AAA63772. (PubMed:2393399)CuratedAdd
    BLAST
    Sequence conflicti1397 – 1504108Missing in AAA63773. (PubMed:2393399)CuratedAdd
    BLAST
    Sequence conflicti1449 – 14502IS → TT in AAC02272. (PubMed:9334251)Curated
    Sequence conflicti1449 – 14502IS → TT in AAF13032. (PubMed:10512748)Curated
    Sequence conflicti1456 – 14561S → G in AAC02272. (PubMed:9334251)Curated
    Sequence conflicti1456 – 14561S → G in AAF13032. (PubMed:10512748)Curated
    Sequence conflicti1458 – 14581S → T in AAC02272. (PubMed:9334251)Curated
    Sequence conflicti1458 – 14581S → T in AAF13032. (PubMed:10512748)Curated
    Sequence conflicti1461 – 14666TIYSTV → ITTTET in AAC02272. (PubMed:9334251)Curated
    Sequence conflicti1461 – 14666TIYSTV → ITTTET in AAF13032. (PubMed:10512748)Curated
    Sequence conflicti1473 – 14731R → S in AAC02272. (PubMed:9334251)Curated
    Sequence conflicti1473 – 14731R → S in AAF13032. (PubMed:10512748)Curated
    Sequence conflicti1484 – 14841P → T in AAC02272. (PubMed:9334251)Curated
    Sequence conflicti1484 – 14841P → T in AAF13032. (PubMed:10512748)Curated
    Sequence conflicti1487 – 14871S → D in AAC02272. (PubMed:9334251)Curated
    Sequence conflicti1487 – 14871S → D in AAF13032. (PubMed:10512748)Curated
    Sequence conflicti1490 – 14901R → S in AAC02272. (PubMed:9334251)Curated
    Sequence conflicti1490 – 14901R → S in AAF13032. (PubMed:10512748)Curated
    Sequence conflicti1495 – 14951F → I in AAC02272. (PubMed:9334251)Curated
    Sequence conflicti1495 – 14951F → I in AAF13032. (PubMed:10512748)Curated
    Sequence conflicti1497 – 14993NTK → TSE in AAC02272. (PubMed:9334251)Curated
    Sequence conflicti1497 – 14993NTK → TSE in AAF13032. (PubMed:10512748)Curated
    Sequence conflicti1501 – 15011T → P in AAC02272. (PubMed:9334251)Curated
    Sequence conflicti1501 – 15011T → P in AAF13032. (PubMed:10512748)Curated
    Sequence conflicti1504 – 15052RS → ST in AAC02272. (PubMed:9334251)Curated
    Sequence conflicti1504 – 15052RS → ST in AAF13032. (PubMed:10512748)Curated
    Sequence conflicti1505 – 15062SP → TA in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1505 – 15062SP → TA in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1508 – 15081F → S in AAC02272. (PubMed:9334251)Curated
    Sequence conflicti1508 – 15081F → S in AAF13032. (PubMed:10512748)Curated
    Sequence conflicti1511 – 15122LI → SM in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1511 – 15122LI → SM in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1516 – 15161E → K in AAC02272. (PubMed:9334251)Curated
    Sequence conflicti1516 – 15161E → K in AAF13032. (PubMed:10512748)Curated
    Sequence conflicti1525 – 15251F → L in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1525 – 15251F → L in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1529 – 15291I → M in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1529 – 15291I → M in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1531 – 15311T → A in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1531 – 15311T → A in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1539 – 15402AR → TP in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1539 – 15402AR → TP in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1554 – 15552HN → NS in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1554 – 15552HN → NS in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1557 – 15571R → A in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1557 – 15571R → A in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1559 – 15591F → L in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1559 – 15591F → L in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1569 – 15691N → T in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1569 – 15691N → T in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1571 – 15711H → N in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1571 – 15711H → N in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1574 – 15741T → A in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1574 – 15741T → A in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1576 – 15761F → L in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1576 – 15761F → L in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1580 – 15801I → M in AAA63772. (PubMed:2393399)Curated
    Sequence conflicti1580 – 15801I → M in AAA63773. (PubMed:2393399)Curated
    Sequence conflicti1611 – 16111T → P in AAC02272. (PubMed:9334251)Curated
    Sequence conflicti2174 – 21741G → GC in BAB12116. (PubMed:11289722)Curated
    Sequence conflicti2367 – 23671E → A in AAF13032. (PubMed:10512748)Curated
    Sequence conflicti2367 – 23671E → A in BAB12116. (PubMed:11289722)Curated
    Sequence conflicti2367 – 23671E → A in AAD45882. (PubMed:10405327)Curated
    Sequence conflicti2367 – 23671E → A in AAD45883. (PubMed:10405327)Curated
    Sequence conflicti2420 – 24201A → T in AAF13032. (PubMed:10512748)Curated
    Sequence conflicti2420 – 24201A → T in BAB12116. (PubMed:11289722)Curated
    Sequence conflicti2420 – 24201A → T in AAD45882. (PubMed:10405327)Curated
    Sequence conflicti2420 – 24201A → T in AAD45883. (PubMed:10405327)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti2338 – 23381A → V.4 Publications
    VAR_030722
    Natural varianti2517 – 25171H → N.2 Publications
    VAR_030723
    Natural varianti2517 – 25171H → Y Polymorphism; may be associated with Crohn disease. 4 Publications
    VAR_030724

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei2237 – 228448VVETE…ADMQG → AEDFCRHAGLHLQGCGDPVP EEWQHRGGLPGPAGDALQPP AGERV in isoform 2. 2 PublicationsVSP_023229Add
    BLAST
    Alternative sequencei2275 – 229824MQKIF…SLRNG → EWQHRGGLPGPAGDALQPPA GERV in isoform 3. CuratedVSP_023230Add
    BLAST
    Alternative sequencei2285 – 2541257Missing in isoform 2. 2 PublicationsVSP_023231Add
    BLAST
    Alternative sequencei2296 – 22994RNGS → SPVF in isoform 4. CuratedVSP_023232
    Alternative sequencei2299 – 2541243Missing in isoform 3. CuratedVSP_023233Add
    BLAST
    Alternative sequencei2300 – 2541242Missing in isoform 4. CuratedVSP_023234Add
    BLAST
    Alternative sequencei2422 – 247958Missing in isoform 5. 1 PublicationVSP_023235Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC105446 Genomic DNA. No translation available.
    AC118759 Genomic DNA. No translation available.
    AY307930 Genomic DNA. Translation: AAQ73824.1.
    AF007190 mRNA. Translation: AAC02268.1.
    AF007193 mRNA. Translation: AAC02271.1.
    AF007194 mRNA. Translation: AAC02272.1.
    AF113616 Genomic DNA. Translation: AAF13032.1.
    M55405 mRNA. Translation: AAA63772.1.
    M55406 mRNA. Translation: AAA63773.1.
    AB038782 Genomic DNA. Translation: BAB12116.1.
    AF143371 mRNA. Translation: AAD45882.1.
    AF143372 mRNA. Translation: AAD45883.1.
    AF143373 mRNA. Translation: AAD45884.1.
    PIRiA35690.
    B35690.
    UniGeneiHs.744422.
    Hs.744530.

    Genome annotation databases

    EnsembliENST00000414964; ENSP00000393306; ENSG00000169894.

    Polymorphism databases

    DMDMi126302571.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Mucin database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC105446 Genomic DNA. No translation available.
    AC118759 Genomic DNA. No translation available.
    AY307930 Genomic DNA. Translation: AAQ73824.1 .
    AF007190 mRNA. Translation: AAC02268.1 .
    AF007193 mRNA. Translation: AAC02271.1 .
    AF007194 mRNA. Translation: AAC02272.1 .
    AF113616 Genomic DNA. Translation: AAF13032.1 .
    M55405 mRNA. Translation: AAA63772.1 .
    M55406 mRNA. Translation: AAA63773.1 .
    AB038782 Genomic DNA. Translation: BAB12116.1 .
    AF143371 mRNA. Translation: AAD45882.1 .
    AF143372 mRNA. Translation: AAD45883.1 .
    AF143373 mRNA. Translation: AAD45884.1 .
    PIRi A35690.
    B35690.
    UniGenei Hs.744422.
    Hs.744530.

    3D structure databases

    ProteinModelPortali Q02505.
    SMRi Q02505. Positions 2183-2228, 2409-2441.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q02505. 1 interaction.

    Protein family/group databases

    MEROPSi S71.002.

    PTM databases

    PhosphoSitei Q02505.

    Polymorphism databases

    DMDMi 126302571.

    Proteomic databases

    PaxDbi Q02505.
    PRIDEi Q02505.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000414964 ; ENSP00000393306 ; ENSG00000169894 .

    Organism-specific databases

    GeneCardsi GC07P100550.
    HGNCi HGNC:7513. MUC3A.
    HPAi HPA010871.
    HPA047868.
    MIMi 158371. gene.
    neXtProti NX_Q02505.
    Orphaneti 771. Ulcerative colitis.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG12793.
    InParanoidi Q02505.

    Enzyme and pathway databases

    Reactomei REACT_115606. O-linked glycosylation of mucins.
    REACT_115835. Termination of O-glycan biosynthesis.

    Miscellaneous databases

    ChiTaRSi MUC3A. human.
    PROi Q02505.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q02505.
    Bgeei Q02505.
    Genevestigatori Q02505.

    Family and domain databases

    InterProi IPR000742. EG-like_dom.
    IPR013032. EGF-like_CS.
    IPR000082. SEA_dom.
    [Graphical view ]
    Pfami PF01390. SEA. 1 hit.
    [Graphical view ]
    SMARTi SM00181. EGF. 2 hits.
    SM00200. SEA. 1 hit.
    [Graphical view ]
    SUPFAMi SSF82671. SSF82671. 1 hit.
    PROSITEi PS00022. EGF_1. 2 hits.
    PS01186. EGF_2. 1 hit.
    PS50026. EGF_3. 1 hit.
    PS50024. SEA. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "Initiation of transcription of the MUC3A human intestinal mucin from a TATA-less promoter and comparison with the MUC3B amino terminus."
      Gum J.R. Jr., Hicks J.W., Crawley S.C., Dahl C.M., Yang S.C., Roberton A.M., Kim Y.S.
      J. Biol. Chem. 278:49600-49609(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-340 (ISOFORM 1).
    3. "MUC3 human intestinal mucin. Analysis of gene structure, the carboxyl terminus, and a novel upstream repetitive region."
      Gum J.R. Jr., Ho J.J.L., Pratt W.S., Hicks J.W., Hill A.S., Vinall L.E., Roberton A.M., Swallow D.M., Kim Y.S.
      J. Biol. Chem. 272:26678-26686(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 351-863 AND 874-1314 (ISOFORM 1), NUCLEOTIDE SEQUENCE [MRNA] OF 1325-2284 (ISOFORM 2).
    4. "Genomic organization and structure of the 3' region of human MUC3: alternative splicing predicts membrane-bound and soluble forms of the mucin."
      Crawley S.C., Gum J.R. Jr., Hicks J.W., Pratt W.S., Aubert J.-P., Swallow D.M., Kim Y.S.
      Biochem. Biophys. Res. Commun. 263:728-736(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1325-2541 (ISOFORM 1), ALTERNATIVE SPLICING (ISOFORMS 2; 3 AND 4), VARIANTS VAL-2338; ASN-2517 AND TYR-2517.
      Tissue: Intestine.
    5. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1238-1587.
      Tissue: Small intestine.
    6. "Multiple transcripts of MUC3: evidence for two genes, MUC3A and MUC3B."
      Pratt W.S., Crawley S., Hicks J., Ho J., Nash M., Kim Y.S., Gum J.R., Swallow D.M.
      Biochem. Biophys. Res. Commun. 275:916-923(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1642-2541 (ISOFORM 1), VARIANTS VAL-2338; ASN-2517 AND TYR-2517.
    7. "Associations of distinct variants of the intestinal mucin gene MUC3A with ulcerative colitis and Crohn's disease."
      Kyo K., Muto T., Nagawa H., Lathrop G.M., Nakamura Y.
      J. Hum. Genet. 46:5-20(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1665-2541 (ISOFORM 1), TISSUE SPECIFICITY, VARIANTS VAL-2338 AND TYR-2517.
    8. "The MUC3 gene encodes a transmembrane mucin and is alternatively spliced."
      Williams S.J., Munster D.J., Quin R.J., Gotley D.C., McGuckin M.A.
      Biochem. Biophys. Res. Commun. 261:83-89(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2176-2541 (ISOFORMS 1; 2 AND 5), FUNCTION, VARIANTS VAL-2338 AND TYR-2517.
      Tissue: Colon mucosa and Small intestine.

    Entry informationi

    Entry nameiMUC3A_HUMAN
    AccessioniPrimary (citable) accession number: Q02505
    Secondary accession number(s): O14650
    , O14651, O43418, O43421, Q02506, Q6W763, Q9H3Q7, Q9UKW9, Q9UN93, Q9UN94, Q9UN95
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 1, 1994
    Last sequence update: February 20, 2007
    Last modified: October 1, 2014
    This is version 109 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3