MUC15 mucin 15, cell surface associated [Homo sapiens (human)] - Gene

Summary

Official Symbol: MUC15provided by HGNC
Official Full Name: mucin 15, cell surface associatedprovided by HGNC
Primary source: HGNC:HGNC:14956
See related: Ensembl:ENSG00000169550 MIM:608566; AllianceGenome:HGNC:14956
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PAS3; MUC-15; PASIII
Summary: Predicted to be located in Golgi lumen and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in thyroid (RPKM 49.6), skin (RPKM 13.7) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p14.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (26559032..26572263, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (26699699..26712907, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (26580579..26593810, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Cell surface associated protein mucin 15 (MUC15) is elevated in preeclampsia.
Title: Cell surface associated protein mucin 15 (MUC15) is elevated in preeclampsia.
Downregulation of MUC15 by miR-183-5p.1 promotes liver tumor-initiating cells properties and tumorigenesis via regulating c-MET/PI3K/AKT/SOX2 axis.
Title: Downregulation of MUC15 by miR-183-5p.1 promotes liver tumor-initiating cells properties and tumorigenesis via regulating c-MET/PI3K/AKT/SOX2 axis.
MUC15 loss facilitates epithelial-mesenchymal transition and cancer stemness for prostate cancer metastasis through GSK3beta/beta-catenin signaling.
Title: MUC15 loss facilitates epithelial-mesenchymal transition and cancer stemness for prostate cancer metastasis through GSK3β/β-catenin signaling.
Targeting MUC15 Protein in Cancer: Molecular Mechanisms and Therapeutic Perspectives.
Title: Targeting MUC15 Protein in Cancer: Molecular Mechanisms and Therapeutic Perspectives.
MUC15 promotes growth and invasion of glioma cells by activating Raf/MEK/ERK pathway.
Title: MUC15 promotes growth and invasion of glioma cells by activating Raf/MEK/ERK pathway.
High Expression of MUC15 Is Correlated with Poor Prognosis of Pancreatic Cancer and Promotes Migration, Invasion, and Chemo-Resistance In Vitro.
Title: High Expression of MUC15 Is Correlated with Poor Prognosis of Pancreatic Cancer and Promotes Migration, Invasion, and Chemo-Resistance In Vitro.
MUC15 inhibits cancer metastasis via PI3K/AKT signaling in renal cell carcinoma.
Title: MUC15 inhibits cancer metastasis via PI3K/AKT signaling in renal cell carcinoma.
Frameshift mutations of MUC15 gene is associated with gastric and colorectal cancers.
Title: Frameshift mutations of MUC15 gene in gastric and its regional heterogeneity in gastric and colorectal cancers.
Multivariate analysis suggested that MUC15 overexpression was an independent factor for prognosis (hazard risk: 3.216; P=0.009). It was concluded that MUC15 is overexpressed in glioma tissues.
Title: Correlations of MUC15 overexpression with clinicopathological features and prognosis of glioma.
MUC15 inhibits dimerization of EGFR and PI3K-AKT signaling and is associated with aggressive hepatocellular carcinomas in patients.
Title: MUC15 inhibits dimerization of EGFR and PI3K-AKT signaling and is associated with aggressive hepatocellular carcinomas in patients.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common body mass index-associated variants confer risk of extreme obesity. 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

RH16467 (e-PCR)
- UniSTS:40969

RH35938 (e-PCR)
- UniSTS:65063

RH78143 (e-PCR)
- UniSTS:79408

A004R23 (e-PCR)
- UniSTS:9525

D11S4348 (e-PCR)
- UniSTS:11588

SGC34286 (e-PCR)
- UniSTS:11092

RH16157 (e-PCR)
- UniSTS:74325

RH102097 (e-PCR)
- UniSTS:96431

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
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-15

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.

mRNA and Protein(s)

NM_001135091.2 → NP_001128563.1 mucin-15 isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AC036114, AY358668, BU676338, DA842986

Consensus CDS

CCDS44557.1

UniProtKB/TrEMBL

A0A0A0MT67

Related

ENSP00000431983.1, ENST00000529533.6

Conserved Domains (1) summary

pfam15672
Location:47 → 361

Mucin15; Cell-membrane associated Mucin15
NM_001135092.2 → NP_001128564.1 mucin-15 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (c) is shorter than isoform a.

Source sequence(s)

AC036114, AJ507429, AY358668, BU676338, DA842986

Consensus CDS

CCDS44556.1

UniProtKB/TrEMBL

A0A0A0MTD6, A0A3B3IU37

Related

ENSP00000431945.1, ENST00000527569.1

Conserved Domains (1) summary

pfam15672
Location:47 → 311

Mucin15; Cell-membrane associated Mucin15
NM_145650.4 → NP_663625.2 mucin-15 isoform b precursor

See identical proteins and their annotated locations for NP_663625.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and uses a downstream translation initiation codon, compared to variant 1. The resulting isoform (b) is shorter at the N-terminus, compared to isoform a.

Source sequence(s)

AC036114, AK128337, AY358668, BU676338, DA842986

Consensus CDS

CCDS7859.1

UniProtKB/Swiss-Prot

B3KY00, E9PII6, F8W945, Q6UWS3, Q8IXI8, Q8N387, Q8WW41

Related

ENSP00000397339.2, ENST00000455601.6

Conserved Domains (1) summary

pfam15672
Location:20 → 334

Mucin15; Cell-membrane associated Mucin15