• Gene id: 388962

Gene Summary

• Gene Symbol: BOLA3   Gene   UCSC   Ensembl
• Aliases: MMDS2
• Gene name: bolA family member 3
• Alternate names: bolA-like protein 3, bolA homolog 3,
• Gene location: 2p13.1 (74147911: 74135399)     Exons: 4     NC_000002.12
• Gene summary(Entrez): This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Muta
• OMIM: 613183

Protein Summary

• Protein general information: Q53S33  
  • Name: BolA like protein 3
  • Length: 107  
  • Mass: 12114
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MAAWSPAAAAPLLRGIRGLPLHHRMFATQTEGELRVTQILKEKFPRATAIKVTDISGGCGAMYEIKIESEEFKEK
  RTVQQHQMVNQALKEEIKEMHGLRIFTSVPKR

• Structural information:
  • Interpro: IPR002634  IPR036065  
  • PDB: 2NCL
  • PDBsum: 2NCL
  • STRING: ENSP00000331369
• Other Databases: GeneCards:  BOLA3  Malacards:  BOLA3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0003674	molecular_function	ND	molecular function

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)