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MUC1 mucin 1, cell surface associated [ Homo sapiens (human) ]

Gene ID: 4582, updated on 29-Sep-2014
Official Symbol
MUC1provided by HGNC
Official Full Name
mucin 1, cell surface associatedprovided by HGNC
Primary source
HGNC:HGNC:7508
Locus tag
RP11-263K19.2
See related
Ensembl:ENSG00000185499; HPRD:01152; MIM:158340; Vega:OTTHUMG00000035681
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
EMA; MCD; PEM; PUM; KL-6; MAM6; MCKD; PEMT; CD227; H23AG; MCKD1; MUC-1; ADMCKD; ADMCKD1; CA 15-3; MUC-1/X; MUC1/ZD; MUC-1/SEC
Summary
This gene encodes a membrane-bound protein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. This protein is expressed on the apical surface of epithelial cells that line the mucosal surfaces of many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that form a heterodimeric complex. The N-terminal alpha subunit functions in cell-adhesion and the C-terminal beta subunit is involved in cell signaling. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. This gene is known to contain a highly polymorphic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]
See MUC1 in Epigenomics, MapViewer
Location:
1q21
Exon count:
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (155185824..155192915, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155158300..155162768, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene keratinocyte associated protein 2 Neighboring gene tripartite motif containing 46 Neighboring gene microRNA 92b Neighboring gene thrombospondin 3 Neighboring gene metaxin 1

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Medullary cystic kidney disease 1
MedGen: C1868139 OMIM: 174000 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma.
NHGRI GWA Catalog
Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.
NHGRI GWA Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
NHGRI GWA Catalog
  • IL-7 Signaling Pathway, organism-specific biosystem (from WikiPathways)
    IL-7 Signaling Pathway, organism-specific biosystemInterleukin-7 belongs to a family of cytokines, which includes IL-2, IL-4, IL-9, IL-15 and IL-21. It signals through a receptor complex consisting of IL-7 receptor alpha chain (IL7RA) and a common ga...
  • 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).
Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
p53 binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription cofactor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest IDA
Inferred from Direct Assay
more info
PubMed 
DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator IDA
Inferred from Direct Assay
more info
PubMed 
O-glycan processing TAS
Traceable Author Statement
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
cellular response to retinoic acid IEA
Inferred from Electronic Annotation
more info
 
epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
female pregnancy IEA
Inferred from Electronic Annotation
more info
 
negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by competitive promoter binding IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of histone H4 acetylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter in response to stress IDA
Inferred from Direct Assay
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
regulation of transcription from RNA polymerase II promoter in response to stress IDA
Inferred from Direct Assay
more info
PubMed 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi lumen TAS
Traceable Author Statement
more info
 
apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
cell surface IBA
Inferred from Biological aspect of Ancestor
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
vesicle IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
mucin-1
Names
mucin-1
episialin
DF3 antigen
H23 antigen
cancer antigen 15-3
krebs von den Lungen-6
mucin 1, transmembrane
carcinoma-associated mucin
polymorphic epithelial mucin
peanut-reactive urinary mucin
tumor associated epithelial mucin
breast carcinoma-associated antigen DF3
tumor-associated epithelial membrane antigen
Medullary cystic kidney disease, autosomal dominant

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_029383.1 

    Range
    5001..9407
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001018016.2NP_001018016.1  mucin-1 isoform 2 precursor

    See proteins identical to NP_001018016.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses alternate in-frame splice sites for two exons, compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AA425062, BC120975, J05581
    Consensus CDS
    CCDS30882.1
    UniProtKB/Swiss-Prot
    P15941
    Related
    ENSP00000357377, OTTHUMP00000033787, ENST00000368392, OTTHUMT00000086736
    Conserved Domains (1) summary
    smart00200
    Location:45161
    SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
  2. NM_001018017.2NP_001018017.1  mucin-1 isoform 3 precursor

    See proteins identical to NP_001018017.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site, compared to variant 1. The resulting isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AA425062, AC234582, BC120974, J05581
    Consensus CDS
    CCDS30883.1
    UniProtKB/Swiss-Prot
    P15941
    Conserved Domains (1) summary
    smart00200
    Location:36152
    SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
  3. NM_001044390.2NP_001037855.1  mucin-1 isoform 5 precursor

    See proteins identical to NP_001037855.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has multiple differences which result in a frameshift in the central coding region, compared to variant 1. These differences result in a shorter isoform (5), compared to isoform 1.
    Source sequence(s)
    AA425062, AC234582, AY327582, J05581
    Consensus CDS
    CCDS41409.1
    UniProtKB/Swiss-Prot
    P15941
    Conserved Domains (1) summary
    cl00944
    Location:163198
    KdpC; K+-transporting ATPase, c chain
  4. NM_001044391.2NP_001037856.1  mucin-1 isoform 6 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) has multiple differences but maintains the reading frame, compared to variant 1. These differences result in a shorter isoform (6), compared to isoform 1.
    Source sequence(s)
    AA425062, AC234582, AY327583, J05581
    UniProtKB/Swiss-Prot
    P15941
    UniProtKB/TrEMBL
    Q7Z551
    Conserved Domains (2) summary
    cl00944
    Location:110145
    KdpC; K+-transporting ATPase, c chain
    cl02507
    Location:3676
    SEA; SEA domain
  5. NM_001044392.2NP_001037857.1  mucin-1 isoform 7 precursor

    See proteins identical to NP_001037857.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) has multiple differences but maintains the reading frame, compared to variant 1. These differences result in a shorter isoform (7), compared to isoform 1.
    Source sequence(s)
    AA425062, AC234582, AY327584, J05581
    Consensus CDS
    CCDS41408.1
    UniProtKB/Swiss-Prot
    P15941
    Conserved Domains (2) summary
    cl00944
    Location:119154
    KdpC; K+-transporting ATPase, c chain
    cl02507
    Location:4585
    SEA; SEA domain
  6. NM_001044393.2NP_001037858.1  mucin-1 isoform 8 precursor

    See proteins identical to NP_001037858.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (8) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AA425062, AC234582, AY327598, J05581
    UniProtKB/Swiss-Prot
    P15941
    UniProtKB/TrEMBL
    Q7Z538
  7. NM_001204285.1NP_001191214.1  mucin-1 isoform 9 precursor

    See proteins identical to NP_001191214.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) has multiple differences but maintains the reading frame, compared to variant 1. The encoded isoform (9) is longer than isoform 1.
    Source sequence(s)
    AA425062, AC234582, J05581
    Consensus CDS
    CCDS55640.2
    UniProtKB/Swiss-Prot
    P15941
    Related
    ENSP00000481231, OTTHUMP00000275758, ENST00000620103, OTTHUMT00000086735
    Conserved Domains (2) summary
    pfam03014
    Location:94163
    SP2; Structural protein 2
    smart00200
    Location:254372
    SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
  8. NM_001204286.1NP_001191215.1  mucin-1 isoform 10 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) has multiple differences but maintains the reading frame, compared to variant 1. The encoded isoform (10) is longer than isoform 1.
    Source sequence(s)
    AA425062, AC234582, AH001451, J05581
    Consensus CDS
    CCDS72933.1
    UniProtKB/Swiss-Prot
    P15941
    Related
    ENSP00000484824, ENST00000612778
    Conserved Domains (2) summary
    pfam03014
    Location:103172
    SP2; Structural protein 2
    smart00200
    Location:263381
    SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
  9. NM_001204287.1NP_001191216.1  mucin-1 isoform 11 precursor

    See proteins identical to NP_001191216.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) uses an alternate splice site, compared to variant 1. The encoded isoform (11) is longer than isoform 1.
    Source sequence(s)
    AA425062, EF583647, J05581
    UniProtKB/TrEMBL
    A5YRU5
    UniProtKB/Swiss-Prot
    P15941
    Related
    ENSP00000388172, ENST00000457295
    Conserved Domains (1) summary
    smart00200
    Location:64179
    SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
  10. NM_001204288.1NP_001191217.1  mucin-1 isoform 12 precursor

    See proteins identical to NP_001191217.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) has multiple differences, one of which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (12) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AA425062, EF583649, J05581
    UniProtKB/TrEMBL
    A5YRU7
    UniProtKB/Swiss-Prot
    P15941
    Conserved Domains (1) summary
    smart00200
    Location:45150
    SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
  11. NM_001204289.1NP_001191218.1  mucin-1 isoform 13 precursor

    See proteins identical to NP_001191218.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13) has multiple differences but maintains the reading frame, compared to variant 1. The encoded isoform (13) is shorter than isoform 1.
    Source sequence(s)
    AA425062, AC234582, EF583652, J05581
    UniProtKB/TrEMBL
    A5YRV0
    UniProtKB/Swiss-Prot
    P15941
    Related
    ENSP00000389098, OTTHUMP00000033788, ENST00000438413, OTTHUMT00000086737
    Conserved Domains (1) summary
    cl02507
    Location:63135
    SEA; SEA domain
  12. NM_001204290.1NP_001191219.1  mucin-1 isoform 14 precursor

    See proteins identical to NP_001191219.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14) has multiple differences but maintains the reading frame, compared to variant 1. The encoded isoform (14) is shorter than isoform 1.
    Source sequence(s)
    AA425062, EF583654, J05581
    UniProtKB/TrEMBL
    A5YRV2
    UniProtKB/Swiss-Prot
    P15941
    Conserved Domains (1) summary
    cl02507
    Location:42114
    SEA; SEA domain
  13. NM_001204291.1NP_001191220.1  mucin-1 isoform 15 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15) has multiple differences but maintains the reading frame, compared to variant 1. The encoded isoform (15) is shorter than isoform 1.
    Source sequence(s)
    AA425062, AC234582, EF670708, J05581
    Consensus CDS
    CCDS72934.1
    UniProtKB/TrEMBL
    A6ZID6
    UniProtKB/Swiss-Prot
    P15941
    Related
    ENSP00000343482, ENST00000338684
    Conserved Domains (1) summary
    smart00200
    Location:62138
    SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
  14. NM_001204292.1NP_001191221.1  mucin-1 isoform 16 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (16) has multiple differences compared to variant 1, one of which results in a translational frameshift in the central coding region. The encoded isoform (16) is shorter than isoform 1.
    Source sequence(s)
    AA425062, AC234582, EF670709, J05581
    Consensus CDS
    CCDS72935.1
    UniProtKB/TrEMBL
    A6ZID7
    UniProtKB/Swiss-Prot
    P15941
    Related
    ENSP00000483482, ENST00000610359
    Conserved Domains (1) summary
    cl02507
    Location:80136
    SEA; SEA domain
  15. NM_001204293.1NP_001191222.1  mucin-1 isoform 17 precursor

    See proteins identical to NP_001191222.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (17) lacks an exon in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (17) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AA425062, AC234582, EF670711, J05581
    Consensus CDS
    CCDS55642.1
    UniProtKB/Swiss-Prot
    P15941
    Related
    ENSP00000357378, OTTHUMP00000273844, ENST00000368393, OTTHUMT00000471536
    Conserved Domains (1) summary
    smart00200
    Location:55158
    SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
  16. NM_001204294.1NP_001191223.1  mucin-1 isoform 18 precursor

    See proteins identical to NP_001191223.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (18) has multiple differences compared to variant 1, one of which results in a translational frameshift in the central coding region. The encoded isoform (18) is shorter than isoform 1.
    Source sequence(s)
    AA425062, AC234582, EF670712, J05581
    Consensus CDS
    CCDS55641.1
    UniProtKB/Swiss-Prot
    P15941
    Conserved Domains (1) summary
    cl02507
    Location:71127
    SEA; SEA domain
  17. NM_001204295.1NP_001191224.1  mucin-1 isoform 19 precursor

    See proteins identical to NP_001191224.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (19) has multiple differences but maintains the reading frame, compared to variant 1. These differences result in a shorter isoform (19), compared to isoform 1.
    Source sequence(s)
    AA425062, AC234582, EF670716, J05581
    Consensus CDS
    CCDS72936.1
    UniProtKB/TrEMBL
    A6ZIE4
    UniProtKB/Swiss-Prot
    P15941
    Related
    ENSP00000483473, ENST00000615517
    Conserved Domains (1) summary
    cl02507
    Location:4585
    SEA; SEA domain
  18. NM_001204296.1NP_001191225.1  mucin-1 isoform 20 precursor

    See proteins identical to NP_001191225.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (20) has multiple differences compared to variant 1, one of which results in a translational frameshift in the central coding region. The encoded isoform (20) is shorter than isoform 1.
    Source sequence(s)
    AA425062, FJ226053, J05581
    UniProtKB/TrEMBL
    B6ECB3
    UniProtKB/Swiss-Prot
    P15941
  19. NM_001204297.1NP_001191226.1  mucin-1 isoform 21 precursor

    See proteins identical to NP_001191226.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (21) has multiple differences but maintains the reading frame, compared to variant 1. These differences result in a shorter isoform (21), compared to isoform 1.
    Source sequence(s)
    AA425062, EF670718, J05581
    UniProtKB/TrEMBL
    A6ZIE6
    UniProtKB/Swiss-Prot
    P15941
    Conserved Domains (2) summary
    cl00944
    Location:137172
    KdpC; K+-transporting ATPase, c chain
    cl02507
    Location:64103
    SEA; SEA domain
  20. NM_002456.5NP_002447.4  mucin-1 isoform 1 precursor

    See proteins identical to NP_002447.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents isoform 1.
    Source sequence(s)
    AA425062, AC234582, J05581, U60261
    Consensus CDS
    CCDS1098.1
    UniProtKB/Swiss-Prot
    P15941
    Conserved Domains (1) summary
    smart00200
    Location:55170
    SEA; Domain found in sea urchin sperm protein, enterokinase, agrin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    155185824..155192915
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    126521570..126525810
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    156554155..156558213
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001018021.1: Suppressed sequence

    Description
    NM_001018021.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_182741.1: Suppressed sequence

    Description
    NM_182741.1: This RefSeq was permanently suppressed because currently there is insufficient support from non-cancerous tissues for the transcript and protein.