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MUC16 mucin 16, cell surface associated [ Homo sapiens (human) ]

Gene ID: 94025, updated on 7-Jan-2019

Summary

Official Symbol
MUC16provided by HGNC
Official Full Name
mucin 16, cell surface associatedprovided by HGNC
Primary source
HGNC:HGNC:15582
See related
Ensembl:ENSG00000181143 MIM:606154
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
CA125
Summary
This gene encodes a protein that is a member of the mucin family. Mucins are high molecular weight, O-glycosylated proteins that play an important role in forming a protective mucous barrier, and are found on the apical surfaces of the epithelia. The encoded protein is a membrane-tethered mucin that contains an extracellular domain at its amino terminus, a large tandem repeat domain, and a transmembrane domain with a short cytoplasmic domain. The amino terminus is highly glycosylated, while the repeat region contains 156 amino acid repeats unit that are rich in serines, threonines, and prolines. Interspersed within the repeats are Sea urchin sperm protein Enterokinase and Agrin (SEA) modules, leucine-rich repeats and ankyrin (ANK) repeats. These regions together form the ectodomain, and there is a potential cleavage site found near an SEA module close to the transmembrane domain. This protein is thought to play a role in forming a barrier, protecting epithelial cells from pathogens. Products of this gene have been used as a marker for different cancers, with higher expression levels associated with poorer outcomes. [provided by RefSeq, May 2017]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See MUC16 in Genome Data Viewer
Location:
19p13.2
Exon count:
88
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (8848840..9010390, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (8959516..9092018, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 558 Neighboring gene methyl-CpG binding domain protein 3 like 1 Neighboring gene bolA family member 3 pseudogene 2 Neighboring gene transfer RNA-Gln (TTG) 8-1

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

Clone Names

  • FLJ14303

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
O-glycan processing TAS
Traceable Author Statement
more info
 
cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
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 
extrinsic component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
vesicle HDA PubMed 

General protein information

Preferred Names
mucin-16
Names
CA125 ovarian cancer antigen
mucin-16 long isoform
mucin-16 short isoform
ovarian cancer-related tumor marker CA125
ovarian carcinoma antigen CA125

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_055257.1 RefSeqGene

    Range
    34049..166547
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_024690.2NP_078966.2  mucin-16

    See identical proteins and their annotated locations for NP_078966.2

    Status: REVIEWED

    Source sequence(s)
    AC008734, AC016584, AF361486, AF414442, AK128681, AK128857, BF359193, BI256451
    Consensus CDS
    CCDS54212.1
    UniProtKB/Swiss-Prot
    Q8WXI7
    UniProtKB/TrEMBL
    B3KY81
    Related
    ENSP00000381008.2, ENST00000397910.8
    Conserved Domains (1) summary
    pfam01390
    Location:1347913576
    SEA; SEA 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_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    8848840..9010390 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027500.1XP_016882989.1  mucin-16 isoform X12

  2. XM_017027499.1XP_016882988.1  mucin-16 isoform X11

  3. XM_017027493.1XP_016882982.1  mucin-16 isoform X8

  4. XM_017027490.1XP_016882979.1  mucin-16 isoform X5

  5. XM_017027492.1XP_016882981.1  mucin-16 isoform X7

  6. XM_017027494.1XP_016882983.1  mucin-16 isoform X9

  7. XM_017027487.1XP_016882976.1  mucin-16 isoform X2

  8. XM_017027495.1XP_016882984.1  mucin-16 isoform X10

  9. XM_017027491.1XP_016882980.1  mucin-16 isoform X6

  10. XM_017027488.1XP_016882977.1  mucin-16 isoform X3

  11. XM_017027486.1XP_016882975.1  mucin-16 isoform X1

  12. XM_017027489.1XP_016882978.1  mucin-16 isoform X4

  13. XM_017027501.1XP_016882990.1  mucin-16 isoform X13

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