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MSH5 mutS homolog 5 [ Homo sapiens (human) ]

Gene ID: 4439, updated on 22-Jan-2020

Summary

Official Symbol
MSH5provided by HGNC
Official Full Name
mutS homolog 5provided by HGNC
Primary source
HGNC:HGNC:7328
See related
Ensembl:ENSG00000204410 MIM:603382
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
G7; NG23; POF13; MUTSH5
Summary
This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair and meiotic recombination. This protein is similar to a Saccharomyces cerevisiae protein that participates in segregation fidelity and crossing-over events during meiosis. This protein plays a role in promoting ionizing radiation-induced apoptosis. This protein forms hetero-oligomers with another member of this family, mutS homolog 4. Polymorphisms in this gene have been linked to various human diseases, including IgA deficiency, common variable immunodeficiency, and premature ovarian failure. Alternative splicing results multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 6 open reading frame 26 (C6orf26) gene. [provided by RefSeq, Feb 2011]
Expression
Broad expression in testis (RPKM 8.9), bone marrow (RPKM 7.5) and 23 other tissues See more
Orthologs

Genomic context

See MSH5 in Genome Data Viewer
Location:
6p21.33
Exon count:
25
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (31739948..31762678)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31707725..31730455)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5872 Neighboring gene chloride intracellular channel 1 Neighboring gene uncharacterized LOC105375020 Neighboring gene MSH5-SAPCD1 readthrough (NMD candidate) Neighboring gene RNA, U6 small nuclear 850, pseudogene Neighboring gene SAPCD1 antisense RNA 1 Neighboring gene suppressor APC domain containing 1 Neighboring gene von Willebrand factor A domain containing 7 Neighboring gene valyl-tRNA synthetase 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Premature ovarian failure 13
MedGen: C4479510 OMIM: 617442 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Common 5p15.33 and 6p21.33 variants influence lung cancer risk.
NHGRI GWA Catalog
Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.
NHGRI GWA Catalog
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough MSH5-SAPCD1

Readthrough gene: MSH5-SAPCD1, Included gene: SAPCD1

Homology

Clone Names

  • MGC2939, DKFZp434C1615

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-dependent ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mismatched DNA binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
mismatch repair IEA
Inferred from Electronic Annotation
more info
 
reciprocal meiotic recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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_011611.1 RefSeqGene

    Range
    4952..27682
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002441.4NP_002432.1  mutS protein homolog 5 isoform c

    See identical proteins and their annotated locations for NP_002432.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses alternate in-frame splice sites in both the central and 3' coding regions, compared to variant 1, resulting in an isoform (c) that is longer than isoform a. Both variants 3 and 4 encode the same isoform.
    Source sequence(s)
    AF048986, AL662899, BF116106, DB448226
    Consensus CDS
    CCDS4720.1
    UniProtKB/Swiss-Prot
    O43196
    UniProtKB/TrEMBL
    A0A024RCM1
    Related
    ENSP00000364908.3, ENST00000375755.8
    Conserved Domains (2) summary
    cd03281
    Location:557763
    ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
    COG0249
    Location:129813
    MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]
  2. NM_025259.5NP_079535.4  mutS protein homolog 5 isoform a

    See identical proteins and their annotated locations for NP_079535.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript and encodes the shortest isoform (a).
    Source sequence(s)
    AL662899, BC041031, BF116106, DB448226
    Consensus CDS
    CCDS34409.2
    UniProtKB/Swiss-Prot
    O43196
    Related
    ENSP00000364892.3, ENST00000375740.7
    Conserved Domains (2) summary
    cd03281
    Location:574762
    ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
    COG0249
    Location:194762
    MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]
  3. NM_172165.3NP_751897.1  mutS protein homolog 5 isoform b

    See identical proteins and their annotated locations for NP_751897.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses alternate in-frame splice sites in both the central and 3' coding regions, compared to variant 1, resulting in an isoform (b) that is longer than isoform a.
    Source sequence(s)
    AL662899, BC001358, BF116106, DB448226
    Consensus CDS
    CCDS34410.1
    UniProtKB/Swiss-Prot
    O43196
    UniProtKB/TrEMBL
    A0A024RCV6
    Related
    ENSP00000364855.3, ENST00000375703.7
    Conserved Domains (2) summary
    cd03281
    Location:557764
    ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
    COG0249
    Location:129814
    MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]
  4. NM_172166.4NP_751898.1  mutS protein homolog 5 isoform c

    See identical proteins and their annotated locations for NP_751898.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses alternate in-frame splice sites in both the central and 3' coding regions, compared to variant 1, resulting in an isoform (c) that is longer than isoform a. Both variants 3 and 4 encode the same isoform.
    Source sequence(s)
    AF034759, BF116106, DB448226
    Consensus CDS
    CCDS4720.1
    UniProtKB/Swiss-Prot
    O43196
    UniProtKB/TrEMBL
    A0A024RCM1
    Related
    ENSP00000364903.3, ENST00000375750.9
    Conserved Domains (2) summary
    cd03281
    Location:557763
    ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
    COG0249
    Location:129813
    MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    31739948..31762678
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_167244.2 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    3090764..3095290
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    3217228..3239935
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

    Range
    2987714..3010452
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

    Range
    3044995..3052474
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

    Range
    3081824..3104567
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

    Range
    2995767..3017449
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p13 ALT_REF_LOCI_7

    Range
    3039245..3061970
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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