Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

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

    Gene ID: 4582, updated on 16-Aug-2016
    Official Symbol
    MUC1provided by HGNC
    Official Full Name
    mucin 1, cell surface associatedprovided by HGNC
    Primary source
    HGNC:HGNC:7508
    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]
    Orthologs
    Location:
    1q21
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 uncharacterized LOC105371450 Neighboring gene microRNA 92b Neighboring gene thrombospondin 3

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Both HIV-1 Nef and Vpu downregulate the cell surface expression of mucin 1 (CD227) PubMed
    Vpu vpu Both HIV-1 Nef and Vpu downregulate the cell surface expression of mucin 1 (CD227) PubMed

    Go to the HIV-1, Human Interaction Database

    • 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...
    • 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 
    Component Evidence Code Pubs
    Golgi lumen TAS
    Traceable Author Statement
    more info
     
    apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space 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
    H23 antigen
    breast carcinoma-associated antigen DF3
    cancer antigen 15-3
    carcinoma-associated mucin
    episialin
    krebs von den Lungen-6
    mucin 1, transmembrane
    peanut-reactive urinary mucin
    polymorphic epithelial mucin
    tumor associated epithelial mucin
    tumor-associated epithelial membrane antigen

    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 RefSeqGene

      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 identical proteins and their annotated locations for 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 identical proteins and their annotated locations for 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
      Related
      ENSP00000357375, OTTHUMP00000033795, ENST00000368390, OTTHUMT00000086748
      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 identical proteins and their annotated locations for 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
      Related
      ENSP00000339690, OTTHUMP00000033792, ENST00000343256, OTTHUMT00000086742
      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 identical proteins and their annotated locations for 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
      Related
      ENSP00000357381, OTTHUMP00000033790, ENST00000368396, OTTHUMT00000086740
      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 identical proteins and their annotated locations for 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
      Related
      ENSP00000484730, OTTHUMP00000275764, ENST00000471283, OTTHUMT00000086746
    7. NM_001204285.1NP_001191214.1  mucin-1 isoform 9 precursor

      See identical proteins and their annotated locations for 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
      UniProtKB/TrEMBL
      A0A0C4DGW3
      Related
      ENSP00000481231, OTTHUMP00000275758, ENST00000620103, OTTHUMT00000086735
      Conserved Domains (1) summary
      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
      UniProtKB/TrEMBL
      A0A087X2A4
      Related
      ENSP00000484824, ENST00000612778
      Conserved Domains (1) summary
      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 identical proteins and their annotated locations for 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/Swiss-Prot
      P15941
      UniProtKB/TrEMBL
      A5YRU5
      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 identical proteins and their annotated locations for 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/Swiss-Prot
      P15941
      UniProtKB/TrEMBL
      A5YRU7
      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 identical proteins and their annotated locations for 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/Swiss-Prot
      P15941
      UniProtKB/TrEMBL
      A5YRV0
      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 identical proteins and their annotated locations for 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/Swiss-Prot
      P15941
      UniProtKB/TrEMBL
      A5YRV2
      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/Swiss-Prot
      P15941
      UniProtKB/TrEMBL
      A0A0A0MRB3, A6ZID6
      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/Swiss-Prot
      P15941
      UniProtKB/TrEMBL
      A0A087X0L2, A6ZID7
      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 identical proteins and their annotated locations for 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 identical proteins and their annotated locations for 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
      Related
      ENSP00000357383, OTTHUMP00000033794, ENST00000368398, OTTHUMT00000086747
      Conserved Domains (1) summary
      cl02507
      Location:71127
      SEA; SEA domain
    17. NM_001204295.1NP_001191224.1  mucin-1 isoform 19 precursor

      See identical proteins and their annotated locations for 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/Swiss-Prot
      P15941
      UniProtKB/TrEMBL
      A6ZIE4
      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 identical proteins and their annotated locations for 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/Swiss-Prot
      P15941
      UniProtKB/TrEMBL
      B6ECB3
    19. NM_001204297.1NP_001191226.1  mucin-1 isoform 21 precursor

      See identical proteins and their annotated locations for 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/Swiss-Prot
      P15941
      UniProtKB/TrEMBL
      A6ZIE6
      Related
      ENSP00000357374, OTTHUMP00000033789, ENST00000368389, OTTHUMT00000086739
      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 identical proteins and their annotated locations for 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
      Related
      ENSP00000338983, OTTHUMP00000033791, ENST00000337604, OTTHUMT00000086741
      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 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      156554155..156558213 complement
      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.