• Gene id: 283600

Gene Summary

• Gene Symbol: SLC25A47   Gene   UCSC   Ensembl
• Aliases: C14orf68, HDMCP, HMFN1655
• Gene name: solute carrier family 25 member 47
• Alternate names: solute carrier family 25 member 47, HCC-down-regulated mitochondrial carrier protein, hepatocellular carcinoma down-regulated mitochondrial carrier protein, hepatocellular carcinoma-downregulated mitochondrial carrier protein,
• Gene location: 14q32.2 (100323338: 100330420)     Exons: 6     NC_000014.9
• Gene summary(Entrez): This gene encodes a member of a large family of mitochondrial transporters. The nuclear-encoded carrier protein is embedded in the inner mitochondrial membrane. This member of the family is thought to be an uncoupling protein that uncouples mitochondrial

Protein Summary

• Protein general information: Q6Q0C1  
  • Name: Solute carrier family 25 member 47 (Hepatocellular carcinoma down regulated mitochondrial carrier protein)
  • Length: 308  
  • Mass: 33435
  • Tissue specificity: Specifically expressed in liver. {ECO
• Sequence:

  MDFVAGAIGGVCGVAVGYPLDTVKVRIQTEPKYTGIWHCVRDTYHRERVWGFYRGLSLPVCTVSLVSSVSFGTYR
  HCLAHICRLRYGNPDAKPTKADITLSGCASGLVRVFLTSPTEVAKVRLQTQTQAQKQQRRLSASGPLAVPPMCPV
  PPACPEPKYRGPLHCLATVAREEGLCGLYKGSSALVLRDGHSFATYFLSYAVLCEWLSPAGHSRPDVPGVLVAGG
  CAGVLAWAVATPMDVIKSRLQADGQGQRRYRGLLHCMVTSVREEGPRVLFKGLVLNCCRAFPVNMVVFVAYEAVL
  RLARGLLT

• Structural information:
  • Interpro: IPR002067  IPR018108  IPR023395  
  • Prosite: PS50920
  • STRING: ENSP00000354886
• Other Databases: GeneCards:  SLC25A47  Malacards:  SLC25A47

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006844	acyl carnitine transport	IBA	biological process
GO:0006865	amino acid transport	IBA	biological process
GO:0015227	acyl carnitine transmembrane transporter activity	IBA	molecular function
GO:0005347	ATP transmembrane transporter activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:1902616	acyl carnitine transmembrane transport	IEA	biological process
GO:0015867	ATP transport	IEA	biological process

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray