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FLASH GENE

Symbol

MLH1

contributors: mct - updated : 15-09-2016

HGNC name	mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
HGNC id	7127

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

text	several spliced isoforms expressed in monocytes, normal colon mucosa (PMID: 10573010)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000249 19 - 2662 NP_000240 84.5 756 - 2009 19075283 NM_001167617 19 - 2473 NP_001161089 - 658 - - NM_001167618 19 - 2473 NP_001161090 - 515 - - NM_001167619 18 - 2386 NP_001161091 - 515 - -

EXPRESSION

Type	ubiquitous

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive esophagus       highly Endocrine neuroendocrine pituitary     highly   thyroid         Lymphoid/Immune tonsils       highly Reproductive female system breast mammary gland   highly   male system testis         male system prostate       Respiratory lung

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial absorptive excretory digestive epithelium     Epithelial barrier/lining uroepithelium     Epithelial secretory glandular exocrine

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune lymphocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	region of homology with other MutS or MutL homologs, comprising a region of 150 aminoacids
	a putative helix-turn-helix domain associated with an adenine nucleotide and magnesium binding site

mono polymer

heteromer , dimer

HOMOLOGY

interspecies

homolog to yeast mutator gene (bacterial mutL)

Homologene

FAMILY

DNA mismatch repair mutL/hexB family

CATEGORY

DNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	correcting of base-base mismatches and insertion-deletion loops resulting from DNA replication and recombination events
	possessing an intrinsic low-level ATPase activity
	TEX11, testis expressed gene 15 (TEX15), mutL homolog 1 (MLH1), and homolog 3 (MLH3), play critical roles in genome integrity, meiotic recombination, and gametogenesis

CELLULAR PROCESS	cell cycle
	nucleotide, repair, mismatch repair

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

mismatch repair

a component	heterodimers with MLH3, PMS1, PMS2
	part of the BRCA1-associated genome surveillance complex (BASC)

INTERACTION

DNA	binding to GT mispairs

RNA

small molecule	nucleotide,
	ATP

protein	PMS2, MLH3, PhS1, NF1
	MLH1-MLH3, a meiotic crossover and DNA mismatch repair factor, is a MSH2-MSH3-stimulated endonuclease

cell & other

REGULATION

inhibited by

promoter hypermethylation

ASSOCIATED DISORDERS

corresponding disease(s)

HNPCC2 , MTS2 , CMMRD

related resource

InternationalGrouponHereditaryNon-PolyposisColorectalCancer

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       loss of function in colon and uterus tumor tumoral germinal mutation       in the 3'-untranslated region (3'-UTR) leads to DNA mismatch repair deficiency, conferring leukemia relapse tumoral   deletion     in early and late-onset breast carcinoma tumoral     --low   by promoter methylation, associated with poor prognosis in non-small cell lung carcinoma

Susceptibility

to inflammatory bowel disease (Crohn, ulcerative colitis) to prostate cancer

Variant & Polymorphism other	a protective role for the codon 384 variant allele against prostate cancer
	rare genetic variants that confer a high risk of prostate cancer when mutated

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS