ENSG00000105197


Homo sapiens

Features
Gene ID: ENSG00000105197
  
Biological name :TIMM50
  
Synonyms : Q3ZCQ8 / TIMM50 / translocase of inner mitochondrial membrane 50
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: q13.2
Gene start: 39480412
Gene end: 39493785
  
Corresponding Affymetrix probe sets: 217612_at (Human Genome U133 Plus 2.0 Array)   224913_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000472904
Ensembl peptide - ENSP00000472920
Ensembl peptide - ENSP00000475531
Ensembl peptide - ENSP00000318115
Ensembl peptide - ENSP00000445806
Ensembl peptide - ENSP00000469052
Ensembl peptide - ENSP00000470896
Ensembl peptide - ENSP00000470994
Ensembl peptide - ENSP00000471142
Ensembl peptide - ENSP00000472184
Ensembl peptide - ENSP00000472476
Ensembl peptide - ENSP00000472524
Ensembl peptide - ENSP00000472723
NCBI entrez gene - 92609     See in Manteia.
OMIM - 607381
RefSeq - NM_001001563
RefSeq - XM_011527491
RefSeq - XM_017027472
RefSeq Peptide - NP_001001563
swissprot - M0R0C3
swissprot - M0R1Y4
swissprot - M0R2D2
swissprot - M0R2F8
swissprot - A0A024R0M6
swissprot - M0R2Z3
swissprot - M0R303
swissprot - Q3ZCQ8
swissprot - M0R2Q2
swissprot - M0QXC3
swissprot - M0R003
swissprot - M0R047
Ensembl - ENSG00000105197
  
Related genetic diseases (OMIM): 617698 - 3-methylglutaconic aciduria, type IX, 617698
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
 timm50ENSDARG00000031098Danio rerio
 Q9D880ENSMUSG00000003438Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR004274  FCP1 homology domain
 IPR023214  HAD superfamily
 IPR027111  Mitochondrial import inner membrane translocase subunit Tim50
 IPR036412  HAD-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001836 release of cytochrome c from mitochondria IDA
 biological_processGO:0006470 protein dephosphorylation IDA
 biological_processGO:0007006 mitochondrial membrane organization IMP
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0030150 protein import into mitochondrial matrix IBA
 biological_processGO:0035335 peptidyl-tyrosine dephosphorylation IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005743 mitochondrial inner membrane IDA
 cellular_componentGO:0005744 mitochondrial inner membrane presequence translocase complex IPI
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016607 nuclear speck IEA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0004721 phosphoprotein phosphatase activity IDA
 molecular_functionGO:0004722 protein serine/threonine phosphatase activity IDA
 molecular_functionGO:0004725 protein tyrosine phosphatase activity IDA
 molecular_functionGO:0005134 interleukin-2 receptor binding IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0043021 ribonucleoprotein complex binding IDA


Pathways (from Reactome)
Pathway description
Mitochondrial protein import


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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