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

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; AllianceGenome:HGNC:16800
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: mouse all
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Genomic context

Location:: 7q22.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (101020081..101058859)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (102342897..102381677)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (100663362..100702140)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MUC17 mutations and methylation are associated with poor prognosis in adult-type diffuse glioma patients.
Title: MUC17 mutations and methylation are associated with poor prognosis in adult-type diffuse glioma patients.
Acquired resistance to EGFR-TKIs in NSCLC mediates epigenetic downregulation of MUC17 by facilitating NF-kappaB activity via UHRF1/DNMT1 complex.
Title: Acquired resistance to EGFR-TKIs in NSCLC mediates epigenetic downregulation of MUC17 by facilitating NF-κB activity via UHRF1/DNMT1 complex.
Overexpression and increased presentation at the plasma membrane of wild-type MUC17 and its phosphodeficient variant MUC17 S-4492A protected Caco-2 cells against adhesion of enteropathogenic Escherichia coli, indicating that C-terminal phosphorylation of MUC17 may play a functional role in epithelial cell protection.
Title: The human transmembrane mucin MUC17 responds to TNFα by increased presentation at the plasma membrane.
MUC17 inactivated NFkappaB to inhibit gastric cancer cell proliferation in response to pro-inflammatory cytokines. The MUC17 function was dependent on its conserved epidermal growth factor domain and on downstream sequences to enable its interaction with myosin-9, resulting in a regulatory feedback loop between myosin-9, p53, and RhoA, and then activation of p38 to negatively regulate the NFkappaB pathway in gastric ca...
Title: Mucin 17 inhibits the progression of human gastric cancer by limiting inflammatory responses through a MYH9-p53-RhoA regulatory feedback loop.
MUC17 polymorphisms are involved in endometriosis development and the associated infertility in the Taiwanese population.
Title: Genetic variations of MUC17 are associated with endometriosis development and related infertility.
Carbachol stimulated enterocyte MUC17 endocytosis is concomitant with NHE3 internalization and CFTR membrane recruitment.
Title: Carbachol-induced MUC17 endocytosis is concomitant with NHE3 internalization and CFTR membrane recruitment in enterocytes.
The HIF1alpha-mediated hypoxic signal pathway contributes to MUC17 expression, and DNA methylation of hypoxia responsive element could be a determinant of the hypoxic inducibility of MUC17 in pancreatic cancer cells.
Title: Expression of MUC17 is regulated by HIF1α-mediated hypoxic responses and requires a methylation-free hypoxia responsible element in pancreatic cancer.
Both native and exogenous MUC17 play a role in attachment and invasion of enteroinvasive E. coli in colonic cell lines and in maintaining epithelial barrier function.
Title: Muc17 protects intestinal epithelial cells from enteroinvasive E. coli infection by promoting epithelial barrier integrity.
Hypomethylation status in the MUC17 promoter could be a novel epigenetic marker for the diagnosis of Pancreatic ductal adenocarcinomas.
Title: DNA methylation and histone H3-K9 modifications contribute to MUC17 expression.
Results indicate that the potential protective effects of this membrane-bound mucin are primarily or secondarily diminished in inflammatory and neoplastic conditions.
Title: Expression of intestinal MUC17 membrane-bound mucin in inflammatory and neoplastic diseases of the colon.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MUC17_3074 (e-PCR)
- UniSTS:462362

D7S3177 (e-PCR)
- UniSTS:225960

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables PDZ domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables extracellular matrix constituent, lubricant activity	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

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
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in collagen-containing extracellular matrix	HDA 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 plasma membrane	TAS Traceable Author Statement more info

General protein information

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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

NG_050729.1 RefSeqGene

Range

5006..43784

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001040105.2 → NP_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

O14761, Q685J2, Q685J3, Q8TDH7

UniProtKB/TrEMBL

E7EPM4

Related

ENSP00000302716.4, ENST00000306151.9

Conserved Domains (1) summary

pfam01390
Location:4190 → 4276

SEA; SEA domain

RNA

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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

101020081..101058859

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

102342897..102381677

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001004430.1: Suppressed sequence

Description

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