ENSG00000113318


Homo sapiens

Features
Gene ID: ENSG00000113318
  
Biological name :MSH3
  
Synonyms : MSH3 / mutS homolog 3 / P20585
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: 1
Band: q14.1
Gene start: 80654648
Gene end: 80876460
  
Corresponding Affymetrix probe sets: 205887_x_at (Human Genome U133 Plus 2.0 Array)   210947_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000265081
NCBI entrez gene - 4437     See in Manteia.
OMIM - 600887
RefSeq - NM_002439
RefSeq Peptide - NP_002430
swissprot - P20585
Ensembl - ENSG00000113318
  
Related genetic diseases (OMIM): 608089 - Endometrial carcinoma, somatic, 608089
  617100 - Familial adenomatous polyposis 4, 617100
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 msh3ENSDARG00000063276Danio rerio
 MSH3ENSGALG00000015589Gallus gallus
 Msh3ENSMUSG00000014850Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000432  DNA mismatch repair protein MutS, C-terminal
 IPR007695  DNA mismatch repair protein MutS-like, N-terminal
 IPR007696  DNA mismatch repair protein MutS, core
 IPR007860  DNA mismatch repair protein MutS, connector domain
 IPR016151  DNA mismatch repair protein MutS, N-terminal
 IPR017261  DNA mismatch repair protein MutS/MSH
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR036187  DNA mismatch repair protein MutS, core domain superfamily
 IPR036678  MutS, connector domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006281 DNA repair IDA
 biological_processGO:0006298 mismatch repair IMP
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0016447 somatic recombination of immunoglobulin gene segments IBA
 biological_processGO:0043570 maintenance of DNA repeat elements IMP
 biological_processGO:0045910 negative regulation of DNA recombination IDA
 biological_processGO:0051096 positive regulation of helicase activity IDA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0032302 MutSbeta complex IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0000403 Y-form DNA binding IBA
 molecular_functionGO:0000404 heteroduplex DNA loop binding IBA
 molecular_functionGO:0000406 double-strand/single-strand DNA junction binding IBA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003684 damaged DNA binding IBA
 molecular_functionGO:0003697 single-stranded DNA binding IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008094 DNA-dependent ATPase activity IBA
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0030983 mismatched DNA binding IDA
 molecular_functionGO:0032139 dinucleotide insertion or deletion binding IDA
 molecular_functionGO:0032142 single guanine insertion binding IDA
 molecular_functionGO:0032181 dinucleotide repeat insertion binding IDA


Pathways (from Reactome)
Pathway description
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
Defective Mismatch Repair Associated With MSH3
Defective Mismatch Repair Associated With MSH2


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show

 HP:0000854 Thyroid adenoma 
Show

 HP:0009592 Astrocytoma "Astrocytoma is a neoplasm of the central nervous system derived from astrocytes." [HPO:curators]
Show

 HP:0012114 Endometrial carcinoma "A carcinoma of the endometrium, the mucous lining of the uterus." [HPO:probinson]
Show

 HP:0012126 Stomach cancer "A cancer arising in any part of the stomach." [HPO:probinson]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000095002 MSH2 / P43246 / mutS homolog 2  / reaction / complex
 ENSG00000076242 MLH1 / P40692 / mutL homolog 1  / reaction / complex
 ENSG00000122512 PMS2 / P54278 / PMS1 homolog 2, mismatch repair system component  / complex / reaction
 ENSG00000132646 PCNA / P12004 / proliferating cell nuclear antigen  / complex / reaction
 ENSG00000174371 EXO1 / Q9UQ84 / exonuclease 1  / reaction






 

1 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr