• Gene id: 253512

Gene Summary

• Gene Symbol: SLC25A30   Gene   UCSC   Ensembl
• Aliases: KMCP1
• Gene name: solute carrier family 25 member 30
• Alternate names: kidney mitochondrial carrier protein 1,
• Gene location: 13q14.13 (45434015: 45393315)     Exons: 13     NC_000013.11
• Gene summary(Entrez): Although the outer mitochondrial membrane is permeable to many small metabolites, transport of solutes across the inner mitochondrial membrane is achieved by members of the mitochondrial carrier protein family, such as SLC25A30 (Haguenauer et al., 2005 [P
• OMIM: 610793

Protein Summary

• Protein general information: Q5SVS4  
  • Name: Kidney mitochondrial carrier protein 1 (Solute carrier family 25 member 30)
  • Length: 291  
  • Mass: 32475
• Sequence:

  MSALNWKPFVYGGLASITAECGTFPIDLTKTRLQIQGQTNDAKFKEIRYRGMLHALVRIGREEGLKALYSGIAPA
  MLRQASYGTIKIGTYQSLKRLFIERPEDETLPINVICGILSGVISSTIANPTDVLKIRMQAQSNTIQGGMIGNFM
  NIYQQEGTRGLWKGVSLTAQRAAIVVGVELPVYDITKKHLILSGLMGDTVYTHFLSSFTCGLAGALASNPVDVVR
  TRMMNQRVLRDGRCSGYTGTLDCLLQTWKNEGFFALYKGFWPNWLRLGPWNIIFFVTYEQLKKLDL

• Structural information:
  • Interpro: IPR002030  IPR018108  IPR023395  
  • Prosite: PS50920
  • STRING: ENSP00000429168
• Other Databases: GeneCards:  SLC25A30  Malacards:  SLC25A30

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0006839	mitochondrial transport	IEA	biological process
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0005739	mitochondrion	ISS	cellular component
GO:0008150	biological_process	ND	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component

Diseases

Associated diseases	References
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)