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Q8TAX7 (MUC7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 91. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Mucin-7

Short name=MUC-7
Alternative name(s):
Apo-MG2
Salivary mucin-7
Gene names
Name:MUC7
Synonyms:MG2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length377 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.5 Ref.6

Subunit structure

Monomer.

Subcellular location

Secreted Ref.1.

Tissue specificity

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). Ref.1 Ref.4

Post-translational modification

N- and O-glycosylated. Contains fucose, mannose, galactose, N-acetylglucosamine and N-acetylgalactosamine. Ref.5

Polymorphism

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.

Involvement in disease

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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.6

Ontologies

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2222 Potential
Chain23 – 377355Mucin-7
PRO_0000239228

Regions

Repeat165 – 187231
Repeat188 – 210232
Repeat211 – 233233
Repeat234 – 256234
Repeat257 – 279235
Repeat280 – 302236
Compositional bias104 – 348245Thr-rich

Amino acid modifications

Glycosylation971N-linked (GlcNAc...) Potential
Glycosylation1281N-linked (GlcNAc...) Potential
Glycosylation1351N-linked (GlcNAc...) Potential
Glycosylation1461N-linked (GlcNAc...) Potential

Natural variations

Natural variant801N → K.
Corresponds to variant rs6826961 [ dbSNP | Ensembl ].
VAR_050451

Experimental info

Sequence conflict701C → S AA sequence Ref.4
Sequence conflict921K → P AA sequence Ref.4
Sequence conflict1621P → A AA sequence Ref.4
Sequence conflict1621P → A AA sequence Ref.5
Sequence conflict3341T → I in AAH25688. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Q8TAX7 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: 1BF92D1855C13F4A

FASTA37739,159
        10         20         30         40         50         60 
MKTLPLFVCI CALSACFSFS EGRERDHELR HRRHHHQSPK SHFELPHYPG LLAHQKPFIR 

        70         80         90        100        110        120 
KSYKCLHKRC RPKLPPSPNN PPKFPNPHQP PKHPDKNSSV VNPTLVATTQ IPSVTFPSAS 

       130        140        150        160        170        180 
TKITTLPNVT FLPQNATTIS SRENVNTSSS VATLAPVNSP APQDTTAAPP TPSATTPAPP 

       190        200        210        220        230        240 
SSSAPPETTA APPTPSATTQ APPSSSAPPE TTAAPPTPPA TTPAPPSSSA PPETTAAPPT 

       250        260        270        280        290        300 
PSATTPAPLS SSAPPETTAV PPTPSATTLD PSSASAPPET TAAPPTPSAT TPAPPSSPAP 

       310        320        330        340        350        360 
QETTAAPITT PNSSPTTLAP DTSETSAAPT HQTTTSVTTQ TTTTKQPTSA PGQNKISRFL 

       370 
LYMKNLLNRI IDDMVEQ 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC106884 Genomic DNA. No translation available.
AC108518 Genomic DNA. No translation available.
BC025688 mRNA. Translation: AAH25688.1.
PIRA48018.
RefSeqNP_001138478.1. NM_001145006.1.
NP_001138479.1. NM_001145007.1.
NP_689504.2. NM_152291.2.
UniGeneHs.631946.

3D structure databases

ProteinModelPortalQ8TAX7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110676. 3 interactions.
IntActQ8TAX7. 10 interactions.
STRING9606.ENSP00000302021.

Polymorphism databases

DMDM296439230.

Proteomic databases

PaxDbQ8TAX7.
PRIDEQ8TAX7.

Protocols and materials databases

DNASU4589.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000304887; ENSP00000302021; ENSG00000171195.
ENST00000413702; ENSP00000407422; ENSG00000171195.
ENST00000456088; ENSP00000400585; ENSG00000171195.
GeneID4589.
KEGGhsa:4589.
UCSCuc003hfj.3. human.

Organism-specific databases

CTD4589.
GeneCardsGC04P071372.
H-InvDBHIX0004265.
HIX0205079.
HGNCHGNC:7518. MUC7.
HPAHPA006411.
MIM158375. gene.
600807. phenotype.
neXtProtNX_Q8TAX7.
PharmGKBPA31323.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG138316.
HOGENOMHOG000169238.
InParanoidQ8TAX7.
KOK13909.
OMAKSHFELP.
PhylomeDBQ8TAX7.
TreeFamTF341506.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.

Gene expression databases

ArrayExpressQ8TAX7.
BgeeQ8TAX7.
CleanExHS_MUC7.
GenevestigatorQ8TAX7.

Family and domain databases

ProtoNetSearch...

Other

ChiTaRSMUC7. human.
GeneWikiMUC7.
GenomeRNAi4589.
NextBio17644.
PMAP-CutDBQ8TAX7.
PROQ8TAX7.
SOURCESearch...

Entry information

Entry nameMUC7_HUMAN
AccessionPrimary (citable) accession number: Q8TAX7
Secondary accession number(s): Q9UCD7, Q9UCD8
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2006
Last sequence update: May 18, 2010
Last modified: April 16, 2014
This is version 91 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM