• Gene id: 10165

Gene Summary

• Gene Symbol: SLC25A13   Gene   UCSC   Ensembl
• Aliases: ARALAR2, CITRIN, CTLN2, NICCD
• Gene name: solute carrier family 25 member 13
• Alternate names: calcium-binding mitochondrial carrier protein Aralar2, mitochondrial aspartate glutamate carrier 2, solute carrier family 25 (aspartate/glutamate carrier), member 13,
• Gene location: 7q21.3 (96322146: 96120219)     Exons: 21     NC_000007.14
• Gene summary(Entrez): This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton
• OMIM: 603859

Protein Summary

• Protein general information: Q9UJS0  
  • Name: Calcium binding mitochondrial carrier protein Aralar2 (Citrin) (Mitochondrial aspartate glutamate carrier 2) (Solute carrier family 25 member 13)
  • Length: 675  
  • Mass: 74176
  • Tissue specificity: High levels in liver and low levels in kidney, pancreas, placenta, heart and brain. {ECO
• Sequence:

  MAAAKVALTKRADPAELRTIFLKYASIEKNGEFFMSPNDFVTRYLNIFGESQPNPKTVELLSGVVDQTKDGLISF
  QEFVAFESVLCAPDALFMVAFQLFDKAGKGEVTFEDVKQVFGQTTIHQHIPFNWDSEFVQLHFGKERKRHLTYAE
  FTQFLLEIQLEHAKQAFVQRDNARTGRVTAIDFRDIMVTIRPHVLTPFVEECLVAAAGGTTSHQVSFSYFNGFNS
  LLNNMELIRKIYSTLAGTRKDVEVTKEEFVLAAQKFGQVTPMEVDILFQLADLYEPRGRMTLADIERIAPLEEGT
  LPFNLAEAQRQKASGDSARPVLLQVAESAYRFGLGSVAGAVGATAVYPIDLVKTRMQNQRSTGSFVGELMYKNSF
  DCFKKVLRYEGFFGLYRGLLPQLLGVAPEKAIKLTVNDFVRDKFMHKDGSVPLAAEILAGGCAGGSQVIFTNPLE
  IVKIRLQVAGEITTGPRVSALSVVRDLGFFGIYKGAKACFLRDIPFSAIYFPCYAHVKASFANEDGQVSPGSLLL
  AGAIAGMPAASLVTPADVIKTRLQVAARAGQTTYSGVIDCFRKILREEGPKALWKGAGARVFRSSPQFGVTLLTY
  ELLQRWFYIDFGGVKPMGSEPVPKSRINLPAPNPDHVGGYKLAVATFAGIENKFGLYLPLFKPSVSTSKAIGGGP

• Structural information:
  • Protein Domains: (51..8-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (87..12-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (125..15-)
    (/note="EF-hand-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00-)
  • Interpro: IPR011992  IPR002048  IPR002067  IPR018108  IPR023395  
  • Prosite: PS50222 PS50920
  • PDB: 4P5W
  • PDBsum: 4P5W
  • STRING: ENSP00000400101
• Other Databases: GeneCards:  SLC25A13  Malacards:  SLC25A13

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043490	malate-aspartate shuttle	IBA	biological process
GO:0005313	L-glutamate transmembrane transporter activity	IBA	molecular function
GO:0015183	L-aspartate transmembrane transporter activity	IBA	molecular function
GO:0015810	aspartate transmembrane transport	IBA	biological process
GO:0015813	L-glutamate transmembrane transport	IBA	biological process
GO:0005509	calcium ion binding	IDA	molecular function
GO:0042802	identical protein binding	IDA	molecular function
GO:0005347	ATP transmembrane transporter activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006094	gluconeogenesis	TAS	biological process
GO:0043490	malate-aspartate shuttle	IEA	biological process
GO:0015810	aspartate transmembrane transport	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005313	L-glutamate transmembrane transporter activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0070778	L-aspartate transmembrane transport	IEA	biological process
GO:0070778	L-aspartate transmembrane transport	IEA	biological process
GO:0015867	ATP transport	IEA	biological process
GO:0051592	response to calcium ion	IDA	biological process
GO:0043490	malate-aspartate shuttle	IDA	biological process
GO:0015813	L-glutamate transmembrane transport	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0045333	cellular respiration	IDA	biological process
GO:0006754	ATP biosynthetic process	IDA	biological process
GO:0005509	calcium ion binding	IDA	molecular function
GO:0015810	aspartate transmembrane transport	IDA	biological process
GO:0015183	L-aspartate transmembrane transporter activity	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005313	L-glutamate transmembrane transporter activity	IDA	molecular function
GO:0005743	mitochondrial inner membrane	ISS	cellular component
GO:0006839	mitochondrial transport	NAS	biological process
GO:0005887	integral component of plasma membrane	NAS	cellular component

Diseases

Associated diseases	References
Primary hyperammonemic disorders	KEGG:H01398
Citrullinemia	KEGG:H00185
Primary hyperammonemic disorders	KEGG:H01398
Citrullinemia	KEGG:H00185
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq