• Gene id: 6576

Gene Summary

• Gene Symbol: SLC25A1   Gene   UCSC   Ensembl
• Aliases: CMS23, CTP, D2L2AD, SEA, SLC20A3
• Gene name: solute carrier family 25 member 1
• Alternate names: tricarboxylate transport protein, mitochondrial, citrate transport protein, solute carrier family 20 (mitochondrial citrate transporter), member 3, solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1, tricarboxylate carrier protein,
• Gene location: 22q11.21 (10882040: 10873222)     Exons: 5     NC_000006.12
• Gene summary(Entrez): This gene encodes a member of the mitochondrial carrier subfamily of solute carrier proteins. Members of this family include nuclear-encoded transporters that translocate small metabolites across the mitochondrial membrane. This protein regulates the move
• OMIM: 190315

Protein Summary

• Protein general information: P53007  
  • Name: Tricarboxylate transport protein, mitochondrial (Citrate transport protein) (CTP) (Solute carrier family 25 member 1) (Tricarboxylate carrier protein)
  • Length: 311  
  • Mass: 34013
• Sequence:

  MPAPRAPRALAAAAPASGKAKLTHPGKAILAGGLAGGIEICITFPTEYVKTQLQLDERSHPPRYRGIGDCVRQTV
  RSHGVLGLYRGLSSLLYGSIPKAAVRFGMFEFLSNHMRDAQGRLDSTRGLLCGLGAGVAEAVVVVCPMETIKVKF
  IHDQTSPNPKYRGFFHGVREIVREQGLKGTYQGLTATVLKQGSNQAIRFFVMTSLRNWYRGDNPNKPMNPLITGV
  FGAIAGAASVFGNTPLDVIKTRMQGLEAHKYRNTWDCGLQILKKEGLKAFYKGTVPRLGRVCLDVAIVFVIYDEV
  VKLLNKVWKTD

• Structural information:
  • Interpro: IPR002067  IPR018108  IPR023395  
  • Prosite: PS50920
  • STRING: ENSP00000215882
• Other Databases: GeneCards:  SLC25A1  Malacards:  SLC25A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006843	mitochondrial citrate transmembrane transport	IBA	biological process
GO:0071913	citrate secondary active transmembrane transporter activity	IDA	molecular function
GO:0005347	ATP transmembrane transporter activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0046949	fatty-acyl-CoA biosynthetic process	TAS	biological process
GO:0006094	gluconeogenesis	TAS	biological process
GO:0015142	tricarboxylic acid transmembrane transporter activity	TAS	molecular function
GO:0015142	tricarboxylic acid transmembrane transporter activity	TAS	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0015867	ATP transport	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0015137	citrate transmembrane transporter activity	TAS	molecular function

Diseases

Associated diseases	References
Congenital myasthenic syndrome	KEGG:H00770
Combined D-2- and L-2-hydroxyglutaric aciduria	KEGG:H02304
Congenital myasthenic syndrome	KEGG:H00770
Combined D-2- and L-2-hydroxyglutaric aciduria	KEGG:H02304
2-hydroxyglutaric aciduria	PMID:23561848
Cryptorchidism	MIK: 28606200
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq