FertilityOnline | Spermatogenes

Detail Information of SG001205

General information

SG ID

SG001205

Gene Name

Msh4

Gene Synonyms/Alias

4930485C04Rik, AV144863, mMsh4

Organism

Mus musculus

NCBI Taxonomy ID

10090

Ensembl Gene ID

ENSMUSG00000005493

Ensembl Protein ID

ENSMUSP00000005630 ENSMUSP00000140190 ENSMUSP00000140265

Description

MutS homolog 4 [Mus musculus (house mouse)]

Orthology

Species	Uniprot	Gene stable ID	Gene Name
Rattus norvegicus	F1M9U4	RGD:1309190	Msh4
Gallus gallus	F1P4E2	Ensembl:ENSGALG00000011392	MSH4
Danio rerio	X1WBE0	ZFIN:ZDB-GENE-131121-643	msh4

More Orthology >>

Status

Reviewed functional gene

Functional information

Function in Stage

meiotic

Function in Cell Type

Spermatocyte

The information of related literature

1. Abstract
Msh4 (MutS homolog 4) is a member of the mammalian mismatch repair gene family whose members are involved in postreplicative DNA mismatch repair as well as in the control of meiotic recombination. ... PMID: [10809667]

Figures for illustrating the function of this protein/gene

Kneitz, B., Cohen, P. E., Avdievich, E., Zhu, L., Kane, M. F., Hou, H., Jr., Kolodner, R. D., Kucherlapati, R., Pollard, J. W. and Edelmann, W. (2000) MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice. Genes Dev 14(9): 1085-97. PMID: [10809667]

Functional description

Msh4 (MutS homolog 4) is a member of the mammalian mismatch repair gene family whose members are involved in postreplicative DNA mismatch repair as well as in the control of meiotic recombination. MSH4 localization on chromosomes during the early stages of meiosis is essential for normal chromosome synapsis in prophase I and that it acts in the same pathway as MSH5.This member is a meiosis-specific protein that is not involved in DNA mismatch correction, but is required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis I.

Protein complex

Complex name	Subunits(UniProt IDs)	Functional comment
RPA-MSH4-BLM complex	O88700 Q99MT2 Q8VEE4 Q62193 Q9CQ71	RPA stimulates helicase activity of BLM.

Pathway

ReactomeID: R-MMU-912497
Meiotic Recombination

Human diseases

OMIM

Spermatogenesis failure

N/A

Expression and location

Tissue specificity (in Homo sapiens)	Expressed highest in testis
Testicular Cell specificity (in Mus musculus)	Expressed highest in spermatocyte
Testicular scRNA-seq (in Homo sapiens)	View detail
Testicular scRNA-seq (in Mus musculus)	View detail
Subcellular location	-

Mutation in human orthology

Variants founded in public databases

1000G (Phase 3): 3142 ESP6500 (SI-V2): 180 ExAC (r0.3.1): 928 dbSNP(Build 147): 7036

Variants founded in in-house datasets

Chinese health control (254): 10 European health control (283): 4 Chinese patients (168):

De novo Mutation Rate

Gene Name	DNMR-average	DNMR-SC
MSH4	0.000033975	0.0000339743

Other information

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Sub-Ontologies	Accession	Term	Evidence
Biological Process	GO:0001541	ovarian follicle development	IMP
Biological Process	GO:0006281	DNA repair	IEA
Biological Process	GO:0006298	mismatch repair	IEA
Biological Process	GO:0006974	cellular response to DNA damage stimulus	IEA
Biological Process	GO:0007129	synapsis	IMP
Biological Process	GO:0007283	spermatogenesis	IMP
Biological Process	GO:0007292	female gamete generation	IMP
Biological Process	GO:0051321	meiotic cell cycle	IEA
Cellular Component	GO:0000793	condensed chromosome	IDA
Cellular Component	GO:0000794	condensed nuclear chromosome	IDA
Cellular Component	GO:0000795	synaptonemal complex	IDA
Cellular Component	GO:0005634	nucleus	IDA
Cellular Component	GO:0005654	nucleoplasm	TAS
Cellular Component	GO:0005713	recombination nodule	IDA
Cellular Component	GO:0032301	MutSalpha complex	IEA
Molecular Function	GO:0000166	nucleotide binding	IEA
Molecular Function	GO:0003677	DNA binding	IEA
Molecular Function	GO:0005524	ATP binding	IEA
Molecular Function	GO:0030983	mismatched DNA binding	IEA

Protein-Protein interaction information

Protein A	Gene name A	Protein B	Gene name B	Evidence
ENSMUSP00000005630	Msh4	ENSMUSP00000005810	Mthfd2	predicted
ENSMUSP00000005630	Msh4	ENSMUSP00000005815	Kit	experimental
ENSMUSP00000005630	Msh4	ENSMUSP00000005825	Pan2	experimental

More PPIs >>

Protein family and Domain

Q99MT2