ENSG00000135070


Homo sapiens

Features
Gene ID: ENSG00000135070
  
Biological name :ISCA1
  
Synonyms : iron-sulfur cluster assembly 1 / ISCA1 / Q9BUE6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: -1
Band: q21.33
Gene start: 86264546
Gene end: 86283102
  
Corresponding Affymetrix probe sets: 209273_s_at (Human Genome U133 Plus 2.0 Array)   209274_s_at (Human Genome U133 Plus 2.0 Array)   221425_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000365159
Ensembl peptide - ENSP00000489740
Ensembl peptide - ENSP00000339003
Ensembl peptide - ENSP00000365157
NCBI entrez gene - 81689     See in Manteia.
OMIM - 611006
RefSeq - NM_030940
RefSeq Peptide - NP_112202
swissprot - A0A1B0GTK6
swissprot - Q5TBE2
swissprot - Q5TBE9
swissprot - Q9BUE6
Ensembl - ENSG00000135070
  
Related genetic diseases (OMIM): 617613 - Multiple mitochondrial dysfunctions syndrome 5, 617613
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
 isca1ENSDARG00000051956Danio rerio
 ISCA1ENSGALG00000012606Gallus gallus
 AK157302ENSMUSG00000078139Mus musculus
 Isca1ENSMUSG00000044792Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR000361  FeS cluster biogenesis
 IPR016092  FeS cluster insertion protein
 IPR017870  FeS cluster insertion, C-terminal, conserved site
 IPR035903  HesB-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0016226 iron-sulfur cluster assembly IBA
 biological_processGO:0044281 small molecule metabolic process TAS
 biological_processGO:0097428 protein maturation by iron-sulfur cluster transfer IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005759 mitochondrial matrix IBA
 molecular_functionGO:0005198 structural molecule activity IEA
 molecular_functionGO:0008198 ferrous iron binding IBA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051536 iron-sulfur cluster binding IEA
 molecular_functionGO:0051537 2 iron, 2 sulfur cluster binding IBA


Pathways (from Reactome)
Pathway description
Mitochondrial iron-sulfur cluster biogenesis


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


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000182512 GLRX5 / Q86SX6 / glutaredoxin 5  / reaction
 ENSG00000165898 ISCA2 / Q86U28 / iron-sulfur cluster assembly 2  / complex






 

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contact: otassy@igbmc.fr