InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MLH3

Summary

InnateDB Protein

IDBP-12720.6

Last Modified

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

Gene Symbol

MLH3

Protein Name

mutL homolog 3 (E. coli)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000348020

InnateDB Gene

IDBG-12716 (MLH3)

Protein Structure

UniProt Annotation

Function

Probably involved in the repair of mismatches in DNA.

Subcellular Localization

Nucleus {ECO:0000305}.

Disease Associations

Hereditary non-polyposis colorectal cancer 7 (HNPCC7) [MIM:614385]: An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. {ECO:0000269PubMed:11586295}. Note=The disease is caused by mutations affecting the gene represented in this entry.Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269PubMed:11317354}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous.

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR001202 WW domain
IPR003594 Histidine kinase-like ATPase, C-terminal domain
IPR013507 DNA mismatch repair protein, C-terminal
IPR014790 MutL, C-terminal, dimerisation
IPR020568 Ribosomal protein S5 domain 2-type fold

PFAM

PF00397
PF02518
PF13581
PF01119
PF08676

PRINTS

PIRSF

SMART

SM00456
SM00387
SM00853

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9UHC1