• Gene id: 81689

Gene Summary

• Gene Symbol: ISCA1   Gene   UCSC   Ensembl
• Aliases: HBLD2, ISA1, MMDS5, hIscA
• Gene name: iron-sulfur cluster assembly 1
• Alternate names: iron-sulfur cluster assembly 1 homolog, mitochondrial, HESB like domain containing 2, HESB-like domain-containing protein 2, iron-sulfur assembly protein IscA,
• Gene location: 9q21.33 (86282537: 86264545)     Exons: 4     NC_000009.12
• Gene summary(Entrez): ISCA1 is a mitochondrial protein involved in the biogenesis and assembly of iron-sulfur clusters, which play a role in electron-transfer reactions (Cozar-Castellano et al., 2004 [PubMed 15262227]).[supplied by OMIM, Mar 2008]
• OMIM: 611006

Protein Summary

• Protein general information: Q9BUE6  
  • Name: Iron sulfur cluster assembly 1 homolog, mitochondrial (HESB like domain containing protein 2) (Iron sulfur assembly protein IscA) (hIscA)
  • Length: 129  
  • Mass: 14179
  • Tissue specificity: Detected in cerebellum, kidney and heart. {ECO
• Sequence:

  MSASLVRATVRAVSKRKLQPTRAALTLTPSAVNKIKQLLKDKPEHVGVKVGVRTRGCNGLSYTLEYTKTKGDSDE
  EVIQDGVRVFIEKKAQLTLLGTEMDYVEDKLSSEFVFNNPNIKGTCGCGESFNI

• Structural information:
  • Interpro: IPR000361  IPR016092  IPR017870  IPR035903  
  • Prosite: PS01152
  • STRING: ENSP00000365159
• Other Databases: GeneCards:  ISCA1  Malacards:  ISCA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0097428	protein maturation by iron-sulfur cluster transfer	IBA	biological process
GO:0016226	iron-sulfur cluster assembly	IBA	biological process
GO:0051537	2 iron, 2 sulfur cluster binding	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005198	structural molecule activity	IEA	molecular function
GO:0097428	protein maturation by iron-sulfur cluster transfer	IEA	biological process
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0044281	small molecule metabolic process	TAS	biological process
GO:0005739	mitochondrion	IEA	cellular component

Diseases

Associated diseases	References
Multiple mitochondrial dysfunctions syndrome	KEGG:H01894
Multiple mitochondrial dysfunctions syndrome	KEGG:H01894
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)