• Gene id: 9673

Gene Summary

• Gene Symbol: SLC25A44   Gene   UCSC   Ensembl
• Gene name: solute carrier family 25 member 44
• Alternate names: solute carrier family 25 member 44,
• Gene location: 1q22 (156194088: 156212795)     Exons: 6     NC_000001.11
• Gene summary(Entrez): SLC25A44 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
• OMIM: 610824

Protein Summary

• Protein general information: Q96H78  
  • Name: Solute carrier family 25 member 44
  • Length: 314  
  • Mass: 35392
• Sequence:

  MEDKRNIQIIEWEHLDKKKFYVFGVAMTMMIRVSVYPFTLIRTRLQVQKGKSLYHGTFDAFIKILRADGITGLYR
  GFLVNTFTLISGQCYVTTYELTRKFVADYSQSNTVKSLVAGGSASLVAQSITVPIDVVSQHLMMQRKGEKMGRFQ
  VRGNPEGQGVVAFGQTKDIIRQILQADGLRGFYRGYVASLLTYIPNSAVWWPFYHFYAEQLSYLCPKECPHIVFQ
  AVSGPLAAATASILTNPMDVIRTRVQVEGKNSIILTFRQLMAEEGPWGLMKGLSARIISATPSTIVIVVGYESLK
  KLSLRPELVDSRHW

• Structural information:
  • Interpro: IPR002067  IPR018108  IPR023395  
  • Prosite: PS50920
  • STRING: ENSP00000407560
• Other Databases: GeneCards:  SLC25A44  Malacards:  SLC25A44

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015803	branched-chain amino acid transport	ISS	biological process
GO:0120161	regulation of cold-induced thermogenesis	ISS	biological process
GO:0009083	branched-chain amino acid catabolic process	IMP	biological process
GO:0005739	mitochondrion	ISS	cellular component
GO:0015658	branched-chain amino acid transmembrane transporter activity	ISS	molecular function
GO:0005347	ATP transmembrane transporter activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0006865	amino acid transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0015867	ATP transport	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881