Format

Send to:

Choose Destination

MUC4 mucin 4, cell surface associated [ Homo sapiens (human) ]

Gene ID: 4585, updated on 23-Apr-2019

Summary

Official Symbol
MUC4provided by HGNC
Official Full Name
mucin 4, cell surface associatedprovided by HGNC
Primary source
HGNC:HGNC:7514
See related
Ensembl:ENSG00000145113 MIM:158372
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ASGP; MUC-4; HSA276359
Summary
The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]
Expression
Biased expression in colon (RPKM 10.3), esophagus (RPKM 2.1) and 4 other tissues See more
Orthologs

Genomic context

See MUC4 in Genome Data Viewer
Location:
3q29
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (195746765..195811973, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (195473636..195539148, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene MIR570 host gene Neighboring gene somatomedin B domain containing 1, pseudogene Neighboring gene mucin 20, cell surface associated Neighboring gene uncharacterized LOC105374299 Neighboring gene uncharacterized LOC107984010 Neighboring gene long intergenic non-protein coding RNA 1983 Neighboring gene kinesin family member 3A pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • C-type lectin receptors (CLRs), organism-specific biosystem (from REACTOME)
    C-type lectin receptors (CLRs), organism-specific biosystemPathogen recognition is central to the induction of T cell differentiation. Groups of pathogens share similar structures known as pathogen-associated molecular patterns (PAMPs), which are recognised ...
  • Dectin-2 family, organism-specific biosystem (from REACTOME)
    Dectin-2 family, organism-specific biosystemDendritic cell-associated C-type lectin-2 (Dectin-2) family of C-type lectin receptors (CLRs) includes Dectin-2 (CLEC6A), blood dendritic antigen 2 (BDCA2/CLEC4C), macrophage C-type lectin (MCL/CLEC4...
  • Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS), organism-specific biosystem (from REACTOME)
    Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS), organism-specific biosystemGlycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 (C1GALT1; MIM:610555) mediates the transfer of Galactose (Gal) from UDP-galactose to single O-linked GalNAc residues (Tn antigens) to...
  • Defective GALNT12 causes colorectal cancer 1 (CRCS1), organism-specific biosystem (from REACTOME)
    Defective GALNT12 causes colorectal cancer 1 (CRCS1), organism-specific biosystemThe family of UDP GalNAc:polypeptide N acetylgalactosaminyltransferases (GalNAc transferases, GALNTs) carry out the addition of N acetylgalactosamine on serine, threonine or possibly tyrosine residue...
  • Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC), organism-specific biosystem (from REACTOME)
    Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC), organism-specific biosystemThe family of UDP GalNAc:polypeptide N acetylgalactosaminyltransferases (GalNAc transferases, GALNTs) carry out the addition of N acetylgalactosamine (GalNAc) on serine, threonine or possibly tyrosin...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases associated with O-glycosylation of proteins, organism-specific biosystem (from REACTOME)
    Diseases associated with O-glycosylation of proteins, organism-specific biosystemGlycosylation is the most abundant modification of proteins, variations of which occur in all living cells. Glycosylation can be further categorized into N-linked (where the oligosaccharide is conjug...
  • Diseases of glycosylation, organism-specific biosystem (from REACTOME)
    Diseases of glycosylation, organism-specific biosystemDiseases of glycosylation, usually referred to as congenital disorders of glycosylation (CDG), are rare inherited disorders ascribing defects of nucleotide-sugar biosynthesis and transport, glycosylt...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • O-linked glycosylation, organism-specific biosystem (from REACTOME)
    O-linked glycosylation, organism-specific biosystemO-glycosylation is an important post-translational modification (PTM) required for correct functioning of many proteins (Van den Steen et al. 1998, Moremen et al. 2012). The O-glycosylation of protei...
  • O-linked glycosylation of mucins, organism-specific biosystem (from REACTOME)
    O-linked glycosylation of mucins, organism-specific biosystemMucins are a family of high molecular weight, heavily glycosylated proteins (glycoconjugates) produced by epithelial tissues in most metazoa. Mucins' key characteristic is their ability to form gels...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Termination of O-glycan biosynthesis, organism-specific biosystem (from REACTOME)
    Termination of O-glycan biosynthesis, organism-specific biosystemO-glycan biosynthesis can be terminated (or modified) by the addition of sialic acid residues on Core 1 and 2 glycoproteins by sialyltransferases (Varki et al. 2009).

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ErbB-2 class receptor binding IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix constituent, lubricant activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
O-glycan processing TAS
Traceable Author Statement
more info
 
cell-matrix adhesion IEA
Inferred from Electronic Annotation
more info
 
maintenance of gastrointestinal epithelium IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
stimulatory C-type lectin receptor signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi lumen TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular matrix NAS
Non-traceable Author Statement
more info
PubMed 
extracellular space HDA PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
membrane NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
vesicle HDA PubMed 

General protein information

Preferred Names
mucin-4
Names
ascites sialoglycoprotein
mucin 4, tracheobronchial
pancreatic adenocarcinoma mucin
testis mucin
tracheobronchial mucin

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_053117.1 RefSeqGene

    Range
    5001..70209
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001322468.1NP_001309397.1  mucin-4 isoform f precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) represents an alternate allele with a longer tandem repeat region, compared to variant 1. The encoded isoform (f) has a longer variable length region than isoform a.
    Source sequence(s)
    AC069513, AC233280, AC239646
    UniProtKB/TrEMBL
    A0A0G2JS65
    Conserved Domains (3) summary
    smart00723
    Location:65596674
    AMOP; Adhesion-associated domain present in MUC4 and other proteins
    smart00216
    Location:66796859
    VWD; von Willebrand factor (vWF) type D domain
    smart00539
    Location:64036560
    NIDO; Extracellular domain of unknown function in nidogen (entactin) and hypothetical proteins
  2. NM_004532.5NP_004523.3  mucin-4 isoform d precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), also called MUC4/Y, lacks coding exon 2 as compared to transcript variant 1. As a result, variant 4 encodes isoform d, which has the same N- and C-termini as isoform a encoded by variant 1. Isoform d, thought to be a membrane-bound protein, lacks the variable length, highly glycosylated region found in isoform a.
    Source sequence(s)
    AC233280, AJ242549, AK307054, AW190850, BC131770, DB227644, EF091824
    Consensus CDS
    CCDS3310.1
    UniProtKB/Swiss-Prot
    Q99102
    UniProtKB/TrEMBL
    A0T3F4
    Related
    ENSP00000304207.6, ENST00000346145.8
    Conserved Domains (3) summary
    smart00216
    Location:437617
    VWD; von Willebrand factor (vWF) type D domain
    smart00539
    Location:161318
    NIDO; Extracellular domain of unknown function in nidogen (entactin) and hypothetical proteins
    cl02758
    Location:317432
    AMOP; AMOP domain
  3. NM_018406.7NP_060876.5  mucin-4 isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also called sv0, represents the reference genome allele and encodes isoform (a). Isoform a is thought to be a membrane-bound protein.
    Source sequence(s)
    AC069513, AC233280, AJ242550
    Consensus CDS
    CCDS54700.1
    UniProtKB/Swiss-Prot
    Q99102
    UniProtKB/TrEMBL
    E9PDY6
    Related
    ENSP00000417498.3, ENST00000463781.8
    Conserved Domains (3) summary
    smart00723
    Location:45534668
    AMOP; Adhesion-associated domain present in MUC4 and other proteins
    smart00216
    Location:46734853
    VWD; von Willebrand factor (vWF) type D domain
    smart00539
    Location:43974554
    NIDO; Extracellular domain of unknown function in nidogen (entactin) and hypothetical proteins
  4. NM_138297.4NP_612154.2  mucin-4 isoform e precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), also called MUC4/X, lacks coding exons 2 and 3 as compared to transcript variant 1. As a result, variant 5 encodes isoform e, which has the same N- and C-termini as isoform a encoded by variant 1. Isoform e, thought to be a membrane-bound protein, lacks the variable length, highly glycosylated region found in isoform a.
    Source sequence(s)
    AC233280, AJ242550, AK307054, AW190850, BC131770, DB227644, EF091824
    Consensus CDS
    CCDS3311.1
    UniProtKB/Swiss-Prot
    Q99102
    UniProtKB/TrEMBL
    A0T3F4
    Related
    ENSP00000338109.4, ENST00000349607.8
    Conserved Domains (3) summary
    smart00216
    Location:386566
    VWD; von Willebrand factor (vWF) type D domain
    smart00539
    Location:110267
    NIDO; Extracellular domain of unknown function in nidogen (entactin) and hypothetical proteins
    cl02758
    Location:266381
    AMOP; AMOP domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    195746765..195811973 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_1

Genomic

  1. NT_187532.1 Reference GRCh38.p12 ALT_REF_LOCI_1

    Range
    117262..189793 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_2

Genomic

  1. NT_187649.1 Reference GRCh38.p12 ALT_REF_LOCI_2

    Range
    3208..47971
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_3

Genomic

  1. NT_187678.1 Reference GRCh38.p12 ALT_REF_LOCI_3

    Range
    3208..49264
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_4

Genomic

  1. NT_187688.1 Reference GRCh38.p12 ALT_REF_LOCI_4

    Range
    3208..47963
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_5

Genomic

  1. NT_187689.1 Reference GRCh38.p12 ALT_REF_LOCI_5

    Range
    117262..181832 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_6

Genomic

  1. NT_187690.1 Reference GRCh38.p12 ALT_REF_LOCI_6

    Range
    3208..47963
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_7

Genomic

  1. NT_187691.1 Reference GRCh38.p12 ALT_REF_LOCI_7

    Range
    3208..47965
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_138298.1: Suppressed sequence

    Description
    NM_138298.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_138299.1: Suppressed sequence

    Description
    NM_138299.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Support Center