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Q8TAX7

- MUC7_HUMAN

UniProt

Q8TAX7 - MUC7_HUMAN

Protein

Mucin-7

Gene

MUC7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 95 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    Functioni

    May function in a protective capacity by promoting the clearance of bacteria in the oral cavity and aiding in mastication, speech, and swallowing. Binds P.aeruginosa pili.2 Publications

    GO - Molecular functioni

    1. protein binding Source: IntAct

    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.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Mucin-7
    Short name:
    MUC-7
    Alternative name(s):
    Apo-MG2
    Salivary mucin-7
    Gene namesi
    Name:MUC7
    Synonyms:MG2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:7518. MUC7.

    Subcellular locationi

    Secreted 1 Publication

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. Golgi lumen Source: Reactome

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Asthma (ASTHMA) [MIM:600807]: The most common chronic disease affecting children and young adults. It is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment. It is characterized by recurrent attacks of paroxysmal dyspnea, with wheezing due to spasmodic contraction of the bronchi.1 Publication
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

    Keywords - Diseasei

    Asthma

    Organism-specific databases

    MIMi600807. phenotype.
    PharmGKBiPA31323.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2222Sequence AnalysisAdd
    BLAST
    Chaini23 – 377355Mucin-7PRO_0000239228Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi97 – 971N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi128 – 1281N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi135 – 1351N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi146 – 1461N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    N- and O-glycosylated. Contains fucose, mannose, galactose, N-acetylglucosamine and N-acetylgalactosamine.1 Publication

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ8TAX7.
    PRIDEiQ8TAX7.

    Miscellaneous databases

    PMAP-CutDBQ8TAX7.

    Expressioni

    Tissue specificityi

    Expressed in salivary gland tissues and only in those that contain mucous acinar cells (e.g. sublingual and submandibular glands) and not in salivary glands containing only serous acinar cells (e.g. parotid gland).2 Publications

    Gene expression databases

    ArrayExpressiQ8TAX7.
    BgeeiQ8TAX7.
    CleanExiHS_MUC7.
    GenevestigatoriQ8TAX7.

    Organism-specific databases

    HPAiHPA006411.

    Interactioni

    Subunit structurei

    Monomer.

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    AMY1CP047452EBI-738582,EBI-738586
    HTN1P155152EBI-738582,EBI-738638
    PRH2P028102EBI-738582,EBI-738601
    STATHP028082EBI-738582,EBI-738687

    Protein-protein interaction databases

    BioGridi110676. 3 interactions.
    IntActiQ8TAX7. 10 interactions.
    STRINGi9606.ENSP00000302021.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8TAX7.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati165 – 187231Add
    BLAST
    Repeati188 – 210232Add
    BLAST
    Repeati211 – 233233Add
    BLAST
    Repeati234 – 256234Add
    BLAST
    Repeati257 – 279235Add
    BLAST
    Repeati280 – 302236Add
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi104 – 348245Thr-richAdd
    BLAST

    Keywords - Domaini

    Repeat, Signal

    Phylogenomic databases

    eggNOGiNOG138316.
    HOGENOMiHOG000169238.
    InParanoidiQ8TAX7.
    KOiK13909.
    OMAiKSHFELP.
    PhylomeDBiQ8TAX7.
    TreeFamiTF341506.

    Sequencei

    Sequence statusi: Complete.

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

    Q8TAX7-1 [UniParc]FASTAAdd to Basket

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    MKTLPLFVCI CALSACFSFS EGRERDHELR HRRHHHQSPK SHFELPHYPG    50
    LLAHQKPFIR KSYKCLHKRC RPKLPPSPNN PPKFPNPHQP PKHPDKNSSV 100
    VNPTLVATTQ IPSVTFPSAS TKITTLPNVT FLPQNATTIS SRENVNTSSS 150
    VATLAPVNSP APQDTTAAPP TPSATTPAPP SSSAPPETTA APPTPSATTQ 200
    APPSSSAPPE TTAAPPTPPA TTPAPPSSSA PPETTAAPPT PSATTPAPLS 250
    SSAPPETTAV PPTPSATTLD PSSASAPPET TAAPPTPSAT TPAPPSSPAP 300
    QETTAAPITT PNSSPTTLAP DTSETSAAPT HQTTTSVTTQ TTTTKQPTSA 350
    PGQNKISRFL LYMKNLLNRI IDDMVEQ 377
    Length:377
    Mass (Da):39,159
    Last modified:May 18, 2010 - v2
    Checksum:i1BF92D1855C13F4A
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti70 – 701C → S AA sequence (PubMed:1445223)Curated
    Sequence conflicti92 – 921K → P AA sequence (PubMed:1445223)Curated
    Sequence conflicti162 – 1621P → A AA sequence (PubMed:1445223)Curated
    Sequence conflicti162 – 1621P → A AA sequence (PubMed:8104046)Curated
    Sequence conflicti334 – 3341T → I in AAH25688. (PubMed:15489334)Curated

    Polymorphismi

    The most common allele, MUC7*6, contains a tandem repeat domain comprising 6 repeats (shown here) each composed of 23 amino acids. These repeats are very similar but not identical. In a large cohort of 375 individuals from a variety of ethnic backgrounds, three different alleles were detected, MUC7*6 being the most common, in all populations studied, followed by MUC7*5 (5 repeats), with frequency varying from 0.05 in Africans to 0.22 in East Asians. The MUC7*5 allele is less prevalent in patients with asthma than in controls, and seems to have a protective role in respiratory function. MUC7*8 (8 repeats), a novel rare allele, was identified in 1 Northern European individual.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti80 – 801N → K.
    Corresponds to variant rs6826961 [ dbSNP | Ensembl ].
    VAR_050451

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC106884 Genomic DNA. No translation available.
    AC108518 Genomic DNA. No translation available.
    BC025688 mRNA. Translation: AAH25688.1.
    CCDSiCCDS3541.1.
    PIRiA48018.
    RefSeqiNP_001138478.1. NM_001145006.1.
    NP_001138479.1. NM_001145007.1.
    NP_689504.2. NM_152291.2.
    UniGeneiHs.631946.

    Genome annotation databases

    EnsembliENST00000304887; ENSP00000302021; ENSG00000171195.
    ENST00000413702; ENSP00000407422; ENSG00000171195.
    ENST00000456088; ENSP00000400585; ENSG00000171195.
    GeneIDi4589.
    KEGGihsa:4589.
    UCSCiuc003hfj.3. human.

    Polymorphism databases

    DMDMi296439230.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Mucin database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC106884 Genomic DNA. No translation available.
    AC108518 Genomic DNA. No translation available.
    BC025688 mRNA. Translation: AAH25688.1 .
    CCDSi CCDS3541.1.
    PIRi A48018.
    RefSeqi NP_001138478.1. NM_001145006.1.
    NP_001138479.1. NM_001145007.1.
    NP_689504.2. NM_152291.2.
    UniGenei Hs.631946.

    3D structure databases

    ProteinModelPortali Q8TAX7.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110676. 3 interactions.
    IntActi Q8TAX7. 10 interactions.
    STRINGi 9606.ENSP00000302021.

    Polymorphism databases

    DMDMi 296439230.

    Proteomic databases

    PaxDbi Q8TAX7.
    PRIDEi Q8TAX7.

    Protocols and materials databases

    DNASUi 4589.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000304887 ; ENSP00000302021 ; ENSG00000171195 .
    ENST00000413702 ; ENSP00000407422 ; ENSG00000171195 .
    ENST00000456088 ; ENSP00000400585 ; ENSG00000171195 .
    GeneIDi 4589.
    KEGGi hsa:4589.
    UCSCi uc003hfj.3. human.

    Organism-specific databases

    CTDi 4589.
    GeneCardsi GC04P071372.
    H-InvDB HIX0004265.
    HIX0205079.
    HGNCi HGNC:7518. MUC7.
    HPAi HPA006411.
    MIMi 158375. gene.
    600807. phenotype.
    neXtProti NX_Q8TAX7.
    PharmGKBi PA31323.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG138316.
    HOGENOMi HOG000169238.
    InParanoidi Q8TAX7.
    KOi K13909.
    OMAi KSHFELP.
    PhylomeDBi Q8TAX7.
    TreeFami TF341506.

    Enzyme and pathway databases

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

    Miscellaneous databases

    ChiTaRSi MUC7. human.
    GeneWikii MUC7.
    GenomeRNAii 4589.
    NextBioi 17644.
    PMAP-CutDB Q8TAX7.
    PROi Q8TAX7.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8TAX7.
    Bgeei Q8TAX7.
    CleanExi HS_MUC7.
    Genevestigatori Q8TAX7.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning, sequence, and specificity of expression of the gene encoding the low molecular weight human salivary mucin (MUC7)."
      Bobek L.A., Tsai H., Biesbrock A.R., Levine M.J.
      J. Biol. Chem. 268:20563-20569(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
      Tissue: Submandibular gland.
    2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Lung.
    4. "Structural features of the low-molecular-mass human salivary mucin."
      Reddy M.S., Bobek L.A., Haraszthy G.G., Biesbrock A.R., Levine M.J.
      Biochem. J. 287:639-643(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 70-92 AND 143-168, TISSUE SPECIFICITY.
      Tissue: Saliva.
    5. "Low-molecular-mass human salivary mucin, MG2: structure and binding of Pseudomonas aeruginosa."
      Reddy M.S., Levine M.J., Paranchych W.
      Crit. Rev. Oral Biol. Med. 4:315-323(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 93-112 AND 143-168, FUNCTION, GLYCOSYLATION.
      Tissue: Saliva.
    6. "Genetic polymorphism of MUC7: allele frequencies and association with asthma."
      Kirkbride H.J., Bolscher J.G., Nazmi K., Vinall L.E., Nash M.W., Moss F.M., Mitchell D.M., Swallow D.M.
      Eur. J. Hum. Genet. 9:347-354(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, POLYMORPHISM, INVOLVEMENT IN SUSCEPTIBILITY TO ASTHMA.

    Entry informationi

    Entry nameiMUC7_HUMAN
    AccessioniPrimary (citable) accession number: Q8TAX7
    Secondary accession number(s): Q9UCD7, Q9UCD8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2006
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 95 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, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 4
      Human chromosome 4: 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

    External Data

    Dasty 3