• Gene id: 79751

Gene Summary

• Gene Symbol: SLC25A22   Gene   UCSC   Ensembl
• Aliases: EIEE3, GC-1, GC1, NET44
• Gene name: solute carrier family 25 member 22
• Alternate names: mitochondrial glutamate carrier 1, glutamate/H(+) symporter 1, solute carrier family 25 (mitochondrial carrier: glutamate), member 22,
• Gene location: 11p15.5 (99408640: 99419615)     Exons: 6     NC_000007.14
• Gene summary(Entrez): This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jul 201
• OMIM: 609302

Protein Summary

• Protein general information: Q9H936  
  • Name: Mitochondrial glutamate carrier 1 (GC 1) (Glutamate/H(+) symporter 1) (Solute carrier family 25 member 22)
  • Length: 323  
  • Mass: 34470
  • Tissue specificity: Highly expressed in most tissues.
• Sequence:

  MADKQISLPAKLINGGIAGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAAVNLTL
  VTPEKAIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIVTTPMEMLKIQLQDAGRIAAQRKILAAQGQL
  SAQGGAQPSVEAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPF
  YVSFLAGCVAGSAAAVAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFG
  IAQVVYFLGIAESLLGLLQDPQA

• Structural information:
  • Interpro: IPR002067  IPR018108  IPR023395  
  • Prosite: PS50920
  • STRING: ENSP00000322020
• Other Databases: GeneCards:  SLC25A22  Malacards:  SLC25A22

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015813	L-glutamate transmembrane transport	IBA	biological process
GO:0015810	aspartate transmembrane transport	IBA	biological process
GO:0015183	L-aspartate transmembrane transporter activity	IBA	molecular function
GO:0005313	L-glutamate transmembrane transporter activity	IBA	molecular function
GO:0043490	malate-aspartate shuttle	IBA	biological process
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:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006811	ion transport	TAS	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0070778	L-aspartate transmembrane transport	IEA	biological process
GO:0015867	ATP transport	IEA	biological process
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0015813	L-glutamate transmembrane transport	IDA	biological process
GO:0005313	L-glutamate transmembrane transporter activity	IDA	molecular function

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Early myoclonic encephalopathy	KEGG:H01819
Early infantile epileptic encephalopathy	KEGG:H00606
Early myoclonic encephalopathy	KEGG:H01819
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq