Protein Mlh1

URN	urn:agi-llid:4292
Connectivity	149
Name	Mlh1
Description	mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
Notes	This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Alternatively spliced transcript variants encoding different isoforms have been described, but their full-length natures have not been determined.

Pathway	colorectal cancer pathway
	endometrial cancer pathway

GO Molecular Function	MutSalpha complex binding
	ATP binding
	structure-specific DNA binding
	single-stranded DNA binding
	mismatched DNA binding
	guanine-thymine mispair binding

GO Cellular Component	MutLalpha complex
	synaptonemal complex
	chiasma
	condensed nuclear chromosome
	chromosome
	nucleus
	condensed chromosome
	male germ cell nucleus

GO Biological Process	cell cycle
	spermatogenesis
	oogenesis
	meiotic chromosome segregation
	male meiosis chromosome segregation
	reciprocal meiotic recombination
	spindle midzone assembly involved in meiosis
	meiotic metaphase I plate congression
	meiosis
	pachytene
	male meiosis
	resolution of meiotic recombination intermediates
	negative regulation of mitotic recombination
	DNA damage response, signal transduction resulting in induction of apoptosis
	isotype switching
	DNA repair
	nuclear-transcribed mRNA poly(A) tail shortening
	mismatch repair
	double-strand break repair via nonhomologous end joining
	somatic recombination of immunoglobulin gene segments
	somatic recombination of immunoglobulin genes during immune response
	response to DNA damage stimulus
	cellular response to organic cyclic substance
	somatic hypermutation of immunoglobulin genes
	response to drug
	response to toxin
	response to hypoxia

Ariadne Ontology	DNA repair

Group	DNA repair
	cell cycle
	spermatogenesis
	oogenesis
	meiotic chromosome segregation
	male meiosis chromosome segregation
	reciprocal meiotic recombination
	spindle midzone assembly involved in meiosis
	meiotic metaphase I plate congression
	meiosis
	pachytene
	male meiosis
	resolution of meiotic recombination intermediates
	negative regulation of mitotic recombination
	DNA damage response, signal transduction resulting in induction of apoptosis
	isotype switching
	DNA repair
	nuclear-transcribed mRNA poly(A) tail shortening
	mismatch repair
	double-strand break repair via nonhomologous end joining
	somatic recombination of immunoglobulin gene segments
	somatic recombination of immunoglobulin genes during immune response
	response to DNA damage stimulus
	cellular response to organic cyclic substance
	somatic hypermutation of immunoglobulin genes
	response to drug
	response to toxin
	response to hypoxia
	MutSalpha complex binding
	ATP binding
	structure-specific DNA binding
	single-stranded DNA binding
	mismatched DNA binding
	guanine-thymine mispair binding
	MutLalpha complex
	synaptonemal complex
	chiasma
	condensed nuclear chromosome
	chromosome
	nucleus
	condensed chromosome
	male germ cell nucleus

MedScan ID	4292

Hugo ID	7127

Human chromosome position	3p21.3

Alias	FCC2
	COCA2
	HNPCC
	hMLH1
	HNPCC2
	MGC5172
	DNA mismatch repair protein Mlh1
	OTTHUMP00000208782
	OTTHUMP00000210162
	mutL protein homolog 1
	AI317206
	AI325952
	AI561766
	1110035C23Rik
	colon cancer, nonpolyposis type 2
	mismatch repair protein 1
	1110035C23
	colon cancer, nonpolyposis type
	colon cancer, nonpolyposis type II
	DNA mismatch repair protein Mlh I
	hMLH I
	LOC360440
	LOC497834
	Mlh I
	MLH1
	mutl (e. coli) homolog 1
	mutl (e. coli) homolog 1 (colon cancer, nonpolyposis type 2)
	mutl (e. coli) homolog I
	mutL homolog 1
	mutL homolog 1 (E. coli)
	mutL homolog 1, colon cancer, nonpolyposis type 2
	mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
	mutL homolog I
	mismatch repair protein
	RIKEN cDNA 1110035C23 gene
	HNPCC2s
	expressed sequence AI317206

Mouse chromosome position	9 62.0 cM

Rat chromosome position	8q32

PIR ID	S43085

Cell Localization	Nucleus

Homologene ID	208

RGD ID	620937

MGI ID	101938