InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: MLH3

Summary

InnateDB Gene

IDBG-12716.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MLH3

Gene Name

mutL homolog 3 (E. coli)

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000119684

Encoded Proteins

IDBP-12720

mutL homolog 3 (E. coli)

IDBP-12722

mutL homolog 3 (E. coli)

IDBP-601638

mutL homolog 3 (E. coli)

IDBP-596606

mutL homolog 3 (E. coli)

IDBP-597102

mutL homolog 3 (E. coli)

IDBP-588477

mutL homolog 3 (E. coli)

IDBP-594872

mutL homolog 3 (E. coli)

IDBP-596490

mutL homolog 3 (E. coli)

IDBP-586686

mutL homolog 3 (E. coli)

IDBP-600056

mutL homolog 3 (E. coli)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 14:75013764-75051532

Strand

Reverse strand

Band

q24.3

Transcripts

ENST00000355774	ENSP00000348020
ENST00000380968	ENSP00000370355
ENST00000554697	ENSP00000451055
ENST00000553713	ENSP00000451130
ENST00000555415
ENST00000556257	ENSP00000451540
ENST00000556740	ENSP00000452316
ENST00000556453	ENSP00000452136
ENST00000555144	ENSP00000450647
ENST00000555499
ENST00000555671
ENST00000553263	ENSP00000451192
ENST00000557648	ENSP00000451095

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003682	chromatin binding
GO:0003696	satellite DNA binding
GO:0003697	single-stranded DNA binding
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016887	ATPase activity
GO:0019237	centromeric DNA binding
GO:0030983	mismatched DNA binding

Biological Process

GO:0006200	ATP catabolic process
GO:0006298	mismatch repair
GO:0006974	cellular response to DNA damage stimulus
GO:0007130	synaptonemal complex assembly
GO:0007131	reciprocal meiotic recombination
GO:0007140	male meiosis
GO:0007144	female meiosis I
GO:0008104	protein localization

Cellular Component

GO:0000793	condensed chromosome
GO:0000795	synaptonemal complex
GO:0001673	male germ cell nucleus
GO:0005634	nucleus
GO:0005712	chiasma
GO:0032300	mismatch repair complex

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000021245

View Gene Order

ENSBTAG00000019279

Not yet available

Pathways

NETPATH

REACTOME

REACT_27271

Meiotic recombination pathway

REACT_115566

Cell Cycle pathway

REACT_111183

Meiosis pathway

KEGG

hsa03430

Mismatch repair pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.436650 Hs.603265

RefSeq

NM_001040108 NM_014381 XM_005267531 XM_005267534 XM_006720116 XM_006720117

HUGO

OMIM

CCDS

CCDS32123 CCDS9837

HPRD

05094

IMGT

EMBL

GenPept

RNA Seq Atlas