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FLASH GENE

Symbol

MSH3

contributors: mct - updated : 14-09-2016

HGNC name	mutS homolog 3 (E. coli)
HGNC id	7326

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	FAP4 familial adenomatous polyposis 4
Location	5q14.1      Physical location : 79.950.293 - 80.172.633
Synonym name	divergent upstream protein
	mismatch repair protein 1
	DNA mismatch repair protein Msh3
Synonym symbol(s)	DUG, DUC1, DUP, MRP1, MGC163308

DNA

TYPE	functioning gene
SPECIAL FEATURE
text	divergently transcribed upstream gene,overlapping and transcribed in opposite orientation (see TSG5B) of dehydrofolate reductase
STRUCTURE	222.34 kb     24 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002439 24 polyA site 4645 NP_002430 - 1137 - -

EXPRESSION

Type

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 Reproductive female system ovary

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Epithelial barrier/lining       Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument melanocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a region of homology with other Muts or MutL homologs, comprising a region of 150 aminoacids encompassing 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
	homolog to C.elegans C14C10.4

Homologene

FAMILY	DNA mismatch repair mutS family
	MSH3 subfamily

CATEGORY

DNA associated , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	protein possessing an intrinsic low-level ATPase activity
	MSH2/MSH3, discriminates between a repair-competent and a repair-resistant loop by sensing the conformational dynamics of their junctions
	MSH2-MSH3 interferes with Okazaki fragment processing to promote trinucleotide repeat expansions
	MSH2-MSH3 is required for 3prime non-homologous tail removal in double-strand break repair and, MSH2-MSH3 binds double-strand/single-strand junctions and initiates repair in an ATP-dependent manner
	MSH2-MSH3 suppresses chromosomal instability and modulates the tumor spectrum in TP53-deficient tumorigenesis and possibly has a role in other chromosomally unstable tumors as well
	MSH2-MSH3 plays an important role in shifting the expansion-contraction equilibrium toward expansion in the early stages of Trinucleotide repeat (TNR) tract expansion

CELLULAR PROCESS	nucleotide, repair, mismatch repair
	nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	complexing with MSH2 in mismatch repair
	MSH2-MSH3 heterodimer recognizes various DNA mispairs, including loops of DNA ranging from 1 to 14 nucleotides and some base-base mispairs

INTERACTION

DNA

RNA

small molecule

protein	MSH6 to tumor supression
	MLH1
	MLH1-MLH3, a meiotic crossover and DNA mismatch repair factor, is a MSH2-MSH3-stimulated endonuclease
	MSH2 interacts with MSH6 or MSH3 to form the MutSalpha or MutSbeta complex, respectively, which recognize base-base mispairs and insertions/deletions and initiate the repair process

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

FAP4

Susceptibility

to prostate cancer

Variant & Polymorphism other	association of MSH3 gene polymorphisms in prostate cancer

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Msh3 knock out mouse