Free for academic non-profit institutions. Other users need a Commercial license
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]
MSH5 (MutS Homolog 5) is a Protein Coding gene. Diseases associated with MSH5 include Premature Ovarian Failure 13 and Hemangioma Of Intra-Abdominal Structure. Among its related pathways are Meiosis and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include damaged DNA binding and mismatched DNA binding. An important paralog of this gene is MSH5-SAPCD1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0005515 | protein binding | IPI | 16397227 |
GO:0005524 | ATP binding | IEA | -- |
GO:0008094 | DNA-dependent ATPase activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000228 | nuclear chromosome | IBA | 21873635 |
GO:0005634 | nucleus | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Meiosis |
.73
|
|
2 | Cell Cycle, Mitotic |
.83
|
|
3 | Ovarian Infertility Genes |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006281 | DNA repair | IEA | -- |
GO:0006298 | mismatch repair | IEA | -- |
GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
GO:0007131 | reciprocal meiotic recombination | IBA | 21873635 |
GO:0051321 | meiotic cell cycle | IEA | -- |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MSH5 30 |
|
||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | MSH5 30 31 |
|
OneToMany | |
Dog (Canis familiaris) |
Mammalia | MSH5 30 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | Msh5 30 17 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | Msh5 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | msh5 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | msh5 30 |
|
||
MSH5 31 |
|
OneToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002642 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | msh-5 30 31 32 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MSH5 30 31 |
|
OneToMany | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C16423g 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | MSH5 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os05g0498300 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU09384 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
718250 | Benign: not provided | 31,742,911(+) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
772875 | Likely Benign: not provided | 31,760,142(+) | T/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
rs1060505055 | Pathogenic: Premature ovarian failure 13. Premature ovarian failure 13 (POF13) [MIM:617442] | 31,759,476(+) | G/Tp.Asp487Tyr | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
rs2075789 | Benign: not specified. - | 31,740,551(+) | C/Tp.Pro29Ser | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
rs3115672 | Benign: not specified | 31,760,120(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv10403n54 | CNV | loss | 21841781 |
dgv10404n54 | CNV | loss | 21841781 |
esv2763547 | CNV | loss | 21179565 |
esv3608568 | CNV | loss | 21293372 |
nsv1073969 | CNV | deletion | 25765185 |
nsv1112900 | CNV | deletion | 24896259 |
nsv1126749 | CNV | deletion | 24896259 |
nsv819978 | CNV | loss | 19587683 |
Disorder | Aliases | PubMed IDs |
---|---|---|
premature ovarian failure 13 |
|
|
hemangioma of intra-abdominal structure |
|
|
common variable immunodeficiency |
|
|
infertility |
|
|
immunoglobulin a deficiency 1 |
|
|