• Gene id: 153328

Gene Summary

• Gene Symbol: SLC25A48   Gene   UCSC   Ensembl
• Gene name: solute carrier family 25 member 48
• Alternate names: solute carrier family 25 member 48, CTC-321K16.1,
• Gene location: 5q31.1 (135579164: 135888636)     Exons: 17     NC_000005.10
• OMIM: 616150

Protein Summary

• Protein general information: Q6ZT89  
  • Name: Solute carrier family 25 member 48
  • Length: 311  
  • Mass: 33440
• Sequence:

  MGSFQLEDFAAGWIGGAASVIVGHPLDTVKTRLQAGVGYGNTLSCIRVVYRRESMFGFFKGMSFPLASIAVYNSV
  VFGVFSNTQRFLSQHRCGEPEASPPRTLSDLLLASMVAGVVSVGLGGPVDLIKIRLQMQTQPFRDANLGLKSRAV
  APAEQPAYQGPVHCITTIVRNEGLAGLYRGASAMLLRDVPGYCLYFIPYVFLSEWITPEACTGPSPCAVWLAGGM
  AGAISWGTATPMDVVKSRLQADGVYLNKYKGVLDCISQSYQKEGLKVFFRGITVNAVRGFPMSAAMFLGYELSLQ
  AIRGDHAVTSP

• Structural information:
  • Interpro: IPR002067  IPR018108  IPR023395  
  • Prosite: PS50920
  • STRING: ENSP00000413049
• Other Databases: GeneCards:  SLC25A48  Malacards:  SLC25A48

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015227	acyl carnitine transmembrane transporter activity	IBA	molecular function
GO:0006865	amino acid transport	IBA	biological process
GO:0006844	acyl carnitine transport	IBA	biological process
GO:0005347	ATP transmembrane transporter activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	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: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
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray