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Protein

Mucin-7

Gene

MUC7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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 - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000171195-MONOMER.
ReactomeiR-HSA-5083625. Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC).
R-HSA-5083632. Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS).
R-HSA-5083636. Defective GALNT12 causes colorectal cancer 1 (CRCS1).
R-HSA-913709. O-linked glycosylation of mucins.
R-HSA-977068. 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
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:7518. MUC7.

Subcellular locationi

  • Secreted 1 Publication

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • Golgi lumen Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Asthma (ASTHMA)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionThe 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.
See also OMIM:600807

Keywords - Diseasei

Asthma

Organism-specific databases

DisGeNETi4589.
MalaCardsiMUC7.
MIMi600807. phenotype.
OpenTargetsiENSG00000171195.
PharmGKBiPA31323.

Polymorphism and mutation databases

BioMutaiMUC7.
DMDMi296439230.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Sequence analysisAdd BLAST22
ChainiPRO_000023922823 – 377Mucin-7Add BLAST355

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi97N-linked (GlcNAc...)Sequence analysis1
Glycosylationi128N-linked (GlcNAc...)Sequence analysis1
Glycosylationi135N-linked (GlcNAc...)Sequence analysis1
Glycosylationi146N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

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

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8TAX7.
PeptideAtlasiQ8TAX7.
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

BgeeiENSG00000171195.
CleanExiHS_MUC7.
ExpressionAtlasiQ8TAX7. baseline and differential.
GenevisibleiQ8TAX7. HS.

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. 12 interactors.
IntActiQ8TAX7. 11 interactors.
STRINGi9606.ENSP00000302021.

Structurei

3D structure databases

ProteinModelPortaliQ8TAX7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati165 – 1871Add BLAST23
Repeati188 – 2102Add BLAST23
Repeati211 – 2333Add BLAST23
Repeati234 – 2564Add BLAST23
Repeati257 – 2795Add BLAST23
Repeati280 – 3026Add BLAST23

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi104 – 348Thr-richAdd BLAST245

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiENOG410J7DQ. Eukaryota.
ENOG4111ED4. LUCA.
GeneTreeiENSGT00730000111663.
HOGENOMiHOG000169238.
InParanoidiQ8TAX7.
KOiK13909.
OMAiPHLELPH.
OrthoDBiEOG091G0WN6.
PhylomeDBiQ8TAX7.
TreeFamiTF341506.

Family and domain databases

InterProiIPR033529. MUC7.
[Graphical view]
PANTHERiPTHR41683. PTHR41683. 1 hit.

Sequencei

Sequence statusi: Complete.

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

Q8TAX7-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKTLPLFVCI CALSACFSFS EGRERDHELR HRRHHHQSPK SHFELPHYPG
60 70 80 90 100
LLAHQKPFIR KSYKCLHKRC RPKLPPSPNN PPKFPNPHQP PKHPDKNSSV
110 120 130 140 150
VNPTLVATTQ IPSVTFPSAS TKITTLPNVT FLPQNATTIS SRENVNTSSS
160 170 180 190 200
VATLAPVNSP APQDTTAAPP TPSATTPAPP SSSAPPETTA APPTPSATTQ
210 220 230 240 250
APPSSSAPPE TTAAPPTPPA TTPAPPSSSA PPETTAAPPT PSATTPAPLS
260 270 280 290 300
SSAPPETTAV PPTPSATTLD PSSASAPPET TAAPPTPSAT TPAPPSSPAP
310 320 330 340 350
QETTAAPITT PNSSPTTLAP DTSETSAAPT HQTTTSVTTQ TTTTKQPTSA
360 370
PGQNKISRFL LYMKNLLNRI IDDMVEQ
Length:377
Mass (Da):39,159
Last modified:May 18, 2010 - v2
Checksum:i1BF92D1855C13F4A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti70C → S AA sequence (PubMed:1445223).Curated1
Sequence conflicti92K → P AA sequence (PubMed:1445223).Curated1
Sequence conflicti162P → A AA sequence (PubMed:1445223).Curated1
Sequence conflicti162P → A AA sequence (PubMed:8104046).Curated1
Sequence conflicti334T → I in AAH25688 (PubMed:15489334).Curated1

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_05045180N → K.Corresponds to variant rs6826961dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Mucin database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ8TAX7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110676. 12 interactors.
IntActiQ8TAX7. 11 interactors.
STRINGi9606.ENSP00000302021.

Polymorphism and mutation databases

BioMutaiMUC7.
DMDMi296439230.

Proteomic databases

PaxDbiQ8TAX7.
PeptideAtlasiQ8TAX7.
PRIDEiQ8TAX7.

Protocols and materials databases

DNASUi4589.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi4589.
DisGeNETi4589.
GeneCardsiMUC7.
H-InvDBHIX0004265.
HIX0205079.
HGNCiHGNC:7518. MUC7.
HPAiHPA006411.
MalaCardsiMUC7.
MIMi158375. gene.
600807. phenotype.
neXtProtiNX_Q8TAX7.
OpenTargetsiENSG00000171195.
PharmGKBiPA31323.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J7DQ. Eukaryota.
ENOG4111ED4. LUCA.
GeneTreeiENSGT00730000111663.
HOGENOMiHOG000169238.
InParanoidiQ8TAX7.
KOiK13909.
OMAiPHLELPH.
OrthoDBiEOG091G0WN6.
PhylomeDBiQ8TAX7.
TreeFamiTF341506.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000171195-MONOMER.
ReactomeiR-HSA-5083625. Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC).
R-HSA-5083632. Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS).
R-HSA-5083636. Defective GALNT12 causes colorectal cancer 1 (CRCS1).
R-HSA-913709. O-linked glycosylation of mucins.
R-HSA-977068. Termination of O-glycan biosynthesis.

Miscellaneous databases

ChiTaRSiMUC7. human.
GeneWikiiMUC7.
GenomeRNAii4589.
PMAP-CutDBQ8TAX7.
PROiQ8TAX7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000171195.
CleanExiHS_MUC7.
ExpressionAtlasiQ8TAX7. baseline and differential.
GenevisibleiQ8TAX7. HS.

Family and domain databases

InterProiIPR033529. MUC7.
[Graphical view]
PANTHERiPTHR41683. PTHR41683. 1 hit.
ProtoNetiSearch...

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: November 2, 2016
This is version 114 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.