MSH3 mutS homolog 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MSH3provided by HGNC
Official Full Name: mutS homolog 3provided by HGNC
Primary source: HGNC:HGNC:7326
See related: Ensembl:ENSG00000113318 MIM:600887; AllianceGenome:HGNC:7326
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: DUP; FAP4; MRP1
Summary: The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer. This gene contains a polymorphic 9 bp tandem repeat sequence in the first exon. The repeat is present 6 times in the reference genome sequence and 3-7 repeats have been reported. Defects in this gene are a cause of susceptibility to endometrial cancer. [provided by RefSeq, Mar 2011]
Expression: Ubiquitous expression in fat (RPKM 8.1), kidney (RPKM 7.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q14.1

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (80654652..80876815)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (81139552..81361456)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (79950471..80172634)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

High-throughput sequencing and in-silico analysis confirm pathogenicity of novel MSH3 variants in African American colorectal cancer.
Title: High-throughput sequencing and in-silico analysis confirm pathogenicity of novel MSH3 variants in African American colorectal cancer.
MSH3: a confirmed predisposing gene for adenomatous polyposis.
Title: MSH3: a confirmed predisposing gene for adenomatous polyposis.
Novel insights into the ecDNA formation mechanism involving MSH3 in methotrexate-resistant human colorectal cancer cells.
Title: Novel insights into the ecDNA formation mechanism involving MSH3 in methotrexate‑resistant human colorectal cancer cells.
MSH2-MSH3 promotes DNA end resection during homologous recombination and blocks polymerase theta-mediated end-joining through interaction with SMARCAD1 and EXO1.
Title: MSH2-MSH3 promotes DNA end resection during homologous recombination and blocks polymerase theta-mediated end-joining through interaction with SMARCAD1 and EXO1.
A large family with MSH3-related polyposis.
Title: A large family with MSH3-related polyposis.
Prevalence and Characterization of Biallelic and Monoallelic NTHL1 and MSH3 Variant Carriers From a Pan-Cancer Patient Population.
Title: Prevalence and Characterization of Biallelic and Monoallelic NTHL1 and MSH3 Variant Carriers From a Pan-Cancer Patient Population.
Coordinated roles of SLX4 and MutSbeta in DNA repair and the maintenance of genome stability.
Title: Coordinated roles of SLX4 and MutSβ in DNA repair and the maintenance of genome stability.
EMAST status as a beneficial predictor of fluorouracil-based adjuvant chemotherapy for Stage II/III colorectal cancer.
Title: EMAST status as a beneficial predictor of fluorouracil-based adjuvant chemotherapy for Stage II/III colorectal cancer.
Genetic Polymorphism of Mismatch Repair Genes and Susceptibility to Prostate Cancer.
Title: Genetic Polymorphism of Mismatch Repair Genes and Susceptibility to Prostate Cancer.
Inflammation-Associated Microsatellite Alterations Caused by MSH3 Dysfunction Are Prevalent in Ulcerative Colitis and Increase With Neoplastic Advancement.
Title: Inflammation-Associated Microsatellite Alterations Caused by MSH3 Dysfunction Are Prevalent in Ulcerative Colitis and Increase With Neoplastic Advancement.

Submit: New GeneRIF Correction See all GeneRIFs (68)

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

Associated conditions

Description	Tests
Endometrial carcinoma MedGen: C0476089 OMIM: 608089 GeneReviews: Not available	Compare labs
Familial adenomatous polyposis 4 MedGen: C4310719 OMIM: 617100 GeneReviews: Not available	Compare labs

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

WI-18379 (e-PCR)
- UniSTS:23818

MSH3_467 (e-PCR)
- UniSTS:280858

SHGC-104881 (e-PCR)
- UniSTS:169013

G67227 (e-PCR)
- UniSTS:186448

G67224 (e-PCR)
- UniSTS:186449

G67225 (e-PCR)
- UniSTS:186450

G67226 (e-PCR)
- UniSTS:186451

G67223 (e-PCR)
- UniSTS:186452

G20893 (e-PCR)
- UniSTS:44894

SHGC-79040 (e-PCR)
- UniSTS:184222

PMC149466P1 (e-PCR)
- UniSTS:271036

SHGC-85199 (e-PCR)
- UniSTS:184271

L28413 (e-PCR)
- UniSTS:15320

G65717 (e-PCR)
- UniSTS:225501

SHGC-31088 (e-PCR)
- UniSTS:20202

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP-dependent DNA damage sensor activity	IEA Inferred from Electronic Annotation more info
contributes_to dinucleotide insertion or deletion binding	IDA Inferred from Direct Assay more info	PubMed
contributes_to dinucleotide repeat insertion binding	IDA Inferred from Direct Assay more info	PubMed
enables double-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
NOT enables guanine/thymine mispair binding	IDA Inferred from Direct Assay more info	PubMed
contributes_to mismatched DNA binding	IDA Inferred from Direct Assay more info	PubMed
NOT contributes_to oxidized purine DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
NOT enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to single guanine insertion binding	IDA Inferred from Direct Assay more info	PubMed
contributes_to single-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA repair	IDA Inferred from Direct Assay more info	PubMed
involved_in maintenance of DNA repeat elements	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mismatch repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in mismatch repair	IDA Inferred from Direct Assay more info	PubMed
involved_in mismatch repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of DNA recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of helicase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in somatic recombination of immunoglobulin gene segments	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of MutSbeta complex	IDA Inferred from Direct Assay more info	PubMed
part_of MutSbeta complex	IPI Inferred from Physical Interaction more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: DNA mismatch repair protein Msh3

Names: divergent upstream protein; epididymis secretory sperm binding protein; hMSH3; mismatch repair protein 1

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_016607.2 RefSeqGene

Range

5178..227341

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002439.5 → NP_002430.3 DNA mismatch repair protein Msh3

See identical proteins and their annotated locations for NP_002430.3

Status: REVIEWED

Source sequence(s)

AA601983, AC022493, BC130434, J04810, U61981

Consensus CDS

CCDS34195.1

UniProtKB/Swiss-Prot

A1L480, A1L482, A6NMM6, P20585, Q6PJT5, Q86UQ6, Q92867

UniProtKB/TrEMBL

A0A384MDZ1

Related

ENSP00000265081.6, ENST00000265081.7

Conserved Domains (6) summary

COG0249
Location:225 → 1111

MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]

pfam00488
Location:846 → 1094

MutS_V; MutS domain V

pfam01624
Location:230 → 343

MutS_I; MutS domain I

pfam05188
Location:366 → 523

MutS_II; MutS domain II

pfam05192
Location:540 → 680

MutS_III; MutS domain III

cl17822
Location:717 → 783

MutS_III; MutS domain III