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MUC17 mucin 17, cell surface associated [ Homo sapiens (human) ]

Gene ID: 140453, updated on 8-Jul-2021

Summary

Official Symbol
MUC17provided by HGNC
Official Full Name
mucin 17, cell surface associatedprovided by HGNC
Primary source
HGNC:HGNC:16800
See related
Ensembl:ENSG00000169876 MIM:608424
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
MUC3; MUC-3; MUC-17
Summary
The protein encoded by this gene is a membrane-bound mucin that provides protection to gut epithelial cells. The encoded protein contains about 60 tandem repeats, with each repeat being around 60 aa. N-glycosylation enables the encoded protein to localize on the cell surface, while the C-terminus interacts with the scaffold protein PDZ domain containing 1 (PDZK1). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2015]
Expression
Biased expression in small intestine (RPKM 22.6), duodenum (RPKM 12.5) and 1 other tissue See more
Orthologs
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Genomic context

See MUC17 in Genome Data Viewer
Location:
7q22.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (101020081..101058859)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100663362..100702140)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375431 Neighboring gene mucin 3A, cell surface associated Neighboring gene mucin 12, cell surface associated Neighboring gene MUC12 antisense RNA 1 Neighboring gene RN7SK pseudogene 54 Neighboring gene NFE2L2 motif-containing MPRA enhancers 54 and 153 Neighboring gene tripartite motif containing 56

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cellular homeostasis TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi lumen TAS
Traceable Author Statement
more info
 
is_active_in apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in collagen-containing extracellular matrix HDA PubMed 
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in external side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
mucin-17
Names
membrane mucin MUC17
secreted mucin MUC17
small intestinal mucin MUC3
small intestinal mucin-3

NCBI Reference Sequences (RefSeq)

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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_050729.1 RefSeqGene

    Range
    5006..43784
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001040105.2NP_001035194.1  mucin-17 precursor

    See identical proteins and their annotated locations for NP_001035194.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and is the protein-coding variant.
    Source sequence(s)
    AC105446, AJ606307, BM768498, BM773519, BM987743
    Consensus CDS
    CCDS34711.1
    UniProtKB/Swiss-Prot
    Q685J3
    Related
    ENSP00000302716.4, ENST00000306151.9
    Conserved Domains (1) summary
    pfam01390
    Location:41904276
    SEA; SEA domain

RNA

  1. NR_133665.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC105446, AJ606308, BM987743
    Related
    ENST00000379439.3

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    101020081..101058859
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001004430.1: Suppressed sequence

    Description
    NM_001004430.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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