Prototype stage

Gene detail

Read-only gene view with summary, GO, UniProt, NCBI, and representative sequence links.

GRCh38.p14 + GENCODE Release 50local-onlyPDO SQLite primaryread-only query modesqlite3 fallback available

Gene detail

MUC1

MUC1

protein_coding 1 155,185,824 - 155,192,916 PDO SQLite primary read-only query mode

Overview Summary GO UniProt Representative Transcripts FASTA ClinVar disease associations

Overview

Gene ID
ENSG00000185499

Gene type
protein_coding

Chromosome
1

Coordinates
155,185,824 - 155,192,916

Strand
-

Status
not available

NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

4582 ADMCKD ADMCKD1 CCDS1098 CCDS30882 CCDS30883 CCDS41408 CCDS41409 CCDS55640 CCDS55641 CCDS55642 CCDS72934 CCDS72935 CCDS72936 CD227 Ca15-3 EMA KL-6 MCD MCKD MCKD1 NM_002456 P15941 PEM PUM epithelial membrane antigen medullary cystic kidney disease 1 (autosomal dominant) mucin 1, transmembrane

Summary

GENCODE gene_type=protein_coding; HGNC symbol=MUC1; HGNC name=mucin 1; alias_count=29; RefSeq=NM_002456; UniProt=P15941

Source: GENCODE + HGNC complete set

4582 • protein-coding

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]

NCBI Gene

UniProt

P15941 • reviewed

The alpha subunit has cell adhesive properties. Can act both as an adhesion and an anti-adhesion protein. May provide a protective layer on epithelial cells against bacterial and enzyme attack The beta subunit contains a C-terminal domain which is involved in cell signaling, through phosphorylations and protein-protein interactions. Modulates signaling in ERK, SRC and NF-kappa-B pathways. In activated T-cells, influences directly or indirectly the Ras/MAPK pathway. Promotes tumor progression. Regulates TP53-mediated transcription and determines cell fate in the genotoxic stress response. Binds, together with KLF4, the PE21 promoter element of TP53 and represses TP53 activity

Mucin-1 · Apical cell membrane; Secreted; Cell membrane; Cytoplasm; Nucleus

P15941 • reviewed

The alpha subunit has cell adhesive properties. Can act both as an adhesion and an anti-adhesion protein. May provide a protective layer on epithelial cells against bacterial and enzyme attack The beta subunit contains a C-terminal domain which is involved in cell signaling, through phosphorylations and protein-protein interactions. Modulates signaling in ERK, SRC and NF-kappa-B pathways. In activated T-cells, influences directly or indirectly the Ras/MAPK pathway. Promotes tumor progression. Regulates TP53-mediated transcription and determines cell fate in the genotoxic stress response. Binds, together with KLF4, the PE21 promoter element of TP53 and represses TP53 activity

Mucin-1 · Apical cell membrane; Secreted; Cell membrane; Cytoplasm; Nucleus

P15941 • reviewed

The alpha subunit has cell adhesive properties. Can act both as an adhesion and an anti-adhesion protein. May provide a protective layer on epithelial cells against bacterial and enzyme attack The beta subunit contains a C-terminal domain which is involved in cell signaling, through phosphorylations and protein-protein interactions. Modulates signaling in ERK, SRC and NF-kappa-B pathways. In activated T-cells, influences directly or indirectly the Ras/MAPK pathway. Promotes tumor progression. Regulates TP53-mediated transcription and determines cell fate in the genotoxic stress response. Binds, together with KLF4, the PE21 promoter element of TP53 and represses TP53 activity

Mucin-1 · Apical cell membrane; Secreted; Cell membrane; Cytoplasm; Nucleus

P15941 • reviewed

The alpha subunit has cell adhesive properties. Can act both as an adhesion and an anti-adhesion protein. May provide a protective layer on epithelial cells against bacterial and enzyme attack The beta subunit contains a C-terminal domain which is involved in cell signaling, through phosphorylations and protein-protein interactions. Modulates signaling in ERK, SRC and NF-kappa-B pathways. In activated T-cells, influences directly or indirectly the Ras/MAPK pathway. Promotes tumor progression. Regulates TP53-mediated transcription and determines cell fate in the genotoxic stress response. Binds, together with KLF4, the PE21 promoter element of TP53 and represses TP53 activity

Mucin-1 · Apical cell membrane; Secreted; Cell membrane; Cytoplasm; Nucleus

P15941 • reviewed

The alpha subunit has cell adhesive properties. Can act both as an adhesion and an anti-adhesion protein. May provide a protective layer on epithelial cells against bacterial and enzyme attack The beta subunit contains a C-terminal domain which is involved in cell signaling, through phosphorylations and protein-protein interactions. Modulates signaling in ERK, SRC and NF-kappa-B pathways. In activated T-cells, influences directly or indirectly the Ras/MAPK pathway. Promotes tumor progression. Regulates TP53-mediated transcription and determines cell fate in the genotoxic stress response. Binds, together with KLF4, the PE21 promoter element of TP53 and represses TP53 activity

Mucin-1 · Apical cell membrane; Secreted; Cell membrane; Cytoplasm; Nucleus

P15941 • reviewed

The alpha subunit has cell adhesive properties. Can act both as an adhesion and an anti-adhesion protein. May provide a protective layer on epithelial cells against bacterial and enzyme attack The beta subunit contains a C-terminal domain which is involved in cell signaling, through phosphorylations and protein-protein interactions. Modulates signaling in ERK, SRC and NF-kappa-B pathways. In activated T-cells, influences directly or indirectly the Ras/MAPK pathway. Promotes tumor progression. Regulates TP53-mediated transcription and determines cell fate in the genotoxic stress response. Binds, together with KLF4, the PE21 promoter element of TP53 and represses TP53 activity

Mucin-1 · Apical cell membrane; Secreted; Cell membrane; Cytoplasm; Nucleus

P15941 • reviewed

The alpha subunit has cell adhesive properties. Can act both as an adhesion and an anti-adhesion protein. May provide a protective layer on epithelial cells against bacterial and enzyme attack The beta subunit contains a C-terminal domain which is involved in cell signaling, through phosphorylations and protein-protein interactions. Modulates signaling in ERK, SRC and NF-kappa-B pathways. In activated T-cells, influences directly or indirectly the Ras/MAPK pathway. Promotes tumor progression. Regulates TP53-mediated transcription and determines cell fate in the genotoxic stress response. Binds, together with KLF4, the PE21 promoter element of TP53 and represses TP53 activity

Mucin-1 · Apical cell membrane; Secreted; Cell membrane; Cytoplasm; Nucleus

P15941 • reviewed

The alpha subunit has cell adhesive properties. Can act both as an adhesion and an anti-adhesion protein. May provide a protective layer on epithelial cells against bacterial and enzyme attack The beta subunit contains a C-terminal domain which is involved in cell signaling, through phosphorylations and protein-protein interactions. Modulates signaling in ERK, SRC and NF-kappa-B pathways. In activated T-cells, influences directly or indirectly the Ras/MAPK pathway. Promotes tumor progression. Regulates TP53-mediated transcription and determines cell fate in the genotoxic stress response. Binds, together with KLF4, the PE21 promoter element of TP53 and represses TP53 activity

Mucin-1 · Apical cell membrane; Secreted; Cell membrane; Cytoplasm; Nucleus

P15941 • reviewed

The alpha subunit has cell adhesive properties. Can act both as an adhesion and an anti-adhesion protein. May provide a protective layer on epithelial cells against bacterial and enzyme attack The beta subunit contains a C-terminal domain which is involved in cell signaling, through phosphorylations and protein-protein interactions. Modulates signaling in ERK, SRC and NF-kappa-B pathways. In activated T-cells, influences directly or indirectly the Ras/MAPK pathway. Promotes tumor progression. Regulates TP53-mediated transcription and determines cell fate in the genotoxic stress response. Binds, together with KLF4, the PE21 promoter element of TP53 and represses TP53 activity

Mucin-1 · Apical cell membrane; Secreted; Cell membrane; Cytoplasm; Nucleus

GO annotations

Biological process

GO:0030330 DNA damage response, signal transduction by p53 class mediator (IDA)
GO:0031571 mitotic G1 DNA damage checkpoint signaling (IDA)
GO:0033629 negative regulation of cell adhesion mediated by integrin (IDA)
GO:1902166 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (IDA)
GO:0000122 negative regulation of transcription by RNA polymerase II (IDA)
GO:0045944 positive regulation of transcription by RNA polymerase II (IDA)

Cellular component

GO:0005796 Golgi lumen (TAS)
GO:0005796 Golgi lumen (TAS)
GO:0005796 Golgi lumen (TAS)
GO:0005796 Golgi lumen (TAS)
GO:0005796 Golgi lumen (TAS)
GO:0005796 Golgi lumen (TAS)
GO:0005796 Golgi lumen (TAS)
GO:0005796 Golgi lumen (TAS)
GO:0005796 Golgi lumen (TAS)
GO:0005796 Golgi lumen (TAS)

+ 26 more

Molecular function

GO:0002039 p53 binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)

+ 99 more

Representative

Representative transcript
ENST00000337604

Representative protein
ENSP00000338983.5

Representative type
CCDS

Candidate count
13

GENCODE Release 50 annotation GTF · transcript.tag=CCDS; transcript_support_level=1

Transcript FASTA Protein FASTA

Transcripts

Transcript ID	Name	Type	Status	Protein	Location
ENST00000337604	MUC1-201	protein_coding	not available	ENSP00000338983.5	1:155,185,824 - 155,192,915 -
ENST00000338684	MUC1-202	protein_coding	not available	ENSP00000343482.6	1:155,185,824 - 155,192,915 -
ENST00000342482	MUC1-203	protein_coding	not available	ENSP00000342814.4	1:155,185,824 - 155,192,915 -
ENST00000343256	MUC1-204	protein_coding	not available	ENSP00000339690.5	1:155,185,824 - 155,192,915 -
ENST00000368389	MUC1-205	protein_coding	not available	ENSP00000357374.2	1:155,185,824 - 155,192,915 -
ENST00000368390	MUC1-206	protein_coding	not available	ENSP00000357375.3	1:155,185,824 - 155,192,915 -
ENST00000368392	MUC1-207	protein_coding	not available	ENSP00000357377.3	1:155,185,824 - 155,192,915 -
ENST00000368396	MUC1-209	protein_coding	not available	ENSP00000357381.4	1:155,185,824 - 155,192,915 -
ENST00000368398	MUC1-210	protein_coding	not available	ENSP00000357383.3	1:155,185,824 - 155,192,915 -
ENST00000438413	MUC1-211	protein_coding	not available	ENSP00000389098.1	1:155,185,824 - 155,192,915 -
ENST00000610359	MUC1-221	protein_coding	not available	ENSP00000483482.1	1:155,185,824 - 155,192,915 -
ENST00000615517	MUC1-224	protein_coding	not available	ENSP00000483473.1	1:155,185,824 - 155,192,915 -
ENST00000620103	MUC1-225	protein_coding	not available	ENSP00000481231.1	1:155,185,824 - 155,192,915 -
ENST00000614519	MUC1-223	nonsense_mediated_decay	not available	ENSP00000482988.1	1:155,185,826 - 155,192,915 -
ENST00000462317	MUC1-214	protein_coding	not available	ENSP00000479471.1	1:155,185,827 - 155,188,351 -
ENST00000485118	MUC1-219	protein_coding	not available	ENSP00000478068.1	1:155,185,830 - 155,187,767 -
ENST00000368393	MUC1-208	protein_coding	not available	ENSP00000357378.3	1:155,185,948 - 155,192,915 -
ENST00000457295	MUC1-212	protein_coding	not available	ENSP00000388172.3	1:155,185,948 - 155,192,915 -
ENST00000462215	MUC1-213	nonsense_mediated_decay	not available	ENSP00000480335.1	1:155,185,948 - 155,192,893 -
ENST00000610468	MUC1-222	nonsense_mediated_decay	not available	ENSP00000482688.1	1:155,185,948 - 155,192,893 -

FASTA

FASTA output is generated by backend query; the raw FASTA path is not exposed.

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ClinVar disease associations

ClinVar disease associations: 0

ClinVar gene-disease tables are missing. Build the candidate database first.