ENSG00000174099


Homo sapiens

Features
Gene ID: ENSG00000174099
  
Biological name :MSRB3
  
Synonyms : methionine sulfoxide reductase B3 / MSRB3 / Q8IXL7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q14.3
Gene start: 65278643
Gene end: 65491430
  
Corresponding Affymetrix probe sets: 1554126_at (Human Genome U133 Plus 2.0 Array)   1554127_s_at (Human Genome U133 Plus 2.0 Array)   225782_at (Human Genome U133 Plus 2.0 Array)   225790_at (Human Genome U133 Plus 2.0 Array)   238583_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000496008
Ensembl peptide - ENSP00000496162
Ensembl peptide - ENSP00000312274
Ensembl peptide - ENSP00000347324
Ensembl peptide - ENSP00000404903
Ensembl peptide - ENSP00000437623
Ensembl peptide - ENSP00000440722
Ensembl peptide - ENSP00000441650
Ensembl peptide - ENSP00000442620
Ensembl peptide - ENSP00000445051
Ensembl peptide - ENSP00000445843
Ensembl peptide - ENSP00000481483
Ensembl peptide - ENSP00000494265
Ensembl peptide - ENSP00000494941
NCBI entrez gene - 253827     See in Manteia.
OMIM - 613719
RefSeq - NM_001193460
RefSeq - NM_001031679
RefSeq - NM_001193461
RefSeq - NM_198080
RefSeq Peptide - NP_001180389
RefSeq Peptide - NP_932346
RefSeq Peptide - NP_001180390
RefSeq Peptide - NP_001026849
swissprot - F5H4C9
swissprot - F5H6G9
swissprot - H0YFW5
swissprot - F5H7C4
swissprot - H7C2B7
swissprot - F5H199
swissprot - Q8IXL7
Ensembl - ENSG00000174099
  
Related genetic diseases (OMIM): 613718 - Deafness, autosomal recessive 74, 613718
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
 msrb3ENSDARG00000045658Danio rerio
 MSRB3ENSGALG00000026661Gallus gallus
 Msrb3ENSMUSG00000051236Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MSRB2 / Q9Y3D2 / methionine sulfoxide reductase B2ENSG0000014845036


Protein motifs (from Interpro)
Interpro ID Name
 IPR002579  Peptide methionine sulphoxide reductase MrsB
 IPR011057  Mss4-like superfamily
 IPR028427  Peptide methionine sulfoxide reductase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006979 response to oxidative stress IEA
 biological_processGO:0030091 protein repair IDA
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008270 zinc ion binding IDA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016671 oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor IEA
 molecular_functionGO:0033743 peptide-methionine (R)-S-oxide reductase activity TAS
 molecular_functionGO:0033745 L-methionine-(R)-S-oxide reductase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Protein repair


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:0000365 Hearing loss 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000136810 TXN / P10599 / thioredoxin  / 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