• Gene id: 8604

Gene Summary

• Gene Symbol: SLC25A12   Gene   UCSC   Ensembl
• Aliases: AGC1, ARALAR, EIEE39
• Gene name: solute carrier family 25 member 12
• Alternate names: calcium-binding mitochondrial carrier protein Aralar1, araceli hiperlarga, calcium binding mitochondrial carrier superfamily member Aralar1, mitochondrial aspartate glutamate carrier 1, solute carrier family 25 (aspartate/glutamate carrier), member 12, solute ,
• Gene location: 2q31.1 (171894305: 171783404)     Exons: 19     NC_000002.12
• Gene summary(Entrez): This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be asso
• OMIM: 138150

Protein Summary

• Protein general information: O75746  
  • Name: Calcium binding mitochondrial carrier protein Aralar1 (Mitochondrial aspartate glutamate carrier 1) (Solute carrier family 25 member 12)
  • Length: 678  
  • Mass: 74762
  • Tissue specificity: Expressed predominantly in the heart and skeletal muscle, weakly in brain and kidney. {ECO
• Sequence:

  MAVKVQTTKRGDPHELRNIFLQYASTEVDGERYMTPEDFVQRYLGLYNDPNSNPKIVQLLAGVADQTKDGLISYQ
  EFLAFESVLCAPDSMFIVAFQLFDKSGNGEVTFENVKEIFGQTIIHHHIPFNWDCEFIRLHFGHNRKKHLNYTEF
  TQFLQELQLEHARQAFALKDKSKSGMISGLDFSDIMVTIRSHMLTPFVEENLVSAAGGSISHQVSFSYFNAFNSL
  LNNMELVRKIYSTLAGTRKDVEVTKEEFAQSAIRYGQVTPLEIDILYQLADLYNASGRLTLADIERIAPLAEGAL
  PYNLAELQRQQSPGLGRPIWLQIAESAYRFTLGSVAGAVGATAVYPIDLVKTRMQNQRGSGSVVGELMYKNSFDC
  FKKVLRYEGFFGLYRGLIPQLIGVAPEKAIKLTVNDFVRDKFTRRDGSVPLPAEVLAGGCAGGSQVIFTNPLEIV
  KIRLQVAGEITTGPRVSALNVLRDLGIFGLYKGAKACFLRDIPFSAIYFPVYAHCKLLLADENGHVGGLNLLAAG
  AMAGVPAASLVTPADVIKTRLQVAARAGQTTYSGVIDCFRKILREEGPSAFWKGTAARVFRSSPQFGVTLVTYEL
  LQRWFYIDFGGLKPAGSEPTPKSRIADLPPANPDHIGGYRLATATFAGIENKFGLYLPKFKSPSVAVVQPKAAVA
  ATQ

• Structural information:
  • Protein Domains: (65..7-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (86..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  IPR018247  IPR002048  IPR002067  IPR018108   IPR023395  
  • Prosite: PS00018 PS50222 PS50920
  • PDB: 4P5X 4P60
  • PDBsum: 4P5X 4P60
  • STRING: ENSP00000388658
• Other Databases: GeneCards:  SLC25A12  Malacards:  SLC25A12

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:0016021	integral component of membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006094	gluconeogenesis	TAS	biological process
GO:2001171	positive regulation of ATP biosynthetic process	IEA	biological process
GO:0043490	malate-aspartate shuttle	IEA	biological process
GO:0031643	positive regulation of myelination	IEA	biological process
GO:0010907	positive regulation of glucose metabolic process	IEA	biological process
GO:0006537	glutamate biosynthetic process	IEA	biological process
GO:0043490	malate-aspartate shuttle	IEA	biological process
GO:1904024	negative regulation of glucose catabolic process to lactate via pyruvate	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	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:0015183	L-aspartate transmembrane transporter activity	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005509	calcium ion binding	IDA	molecular function
GO:0015810	aspartate transmembrane transport	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0005313	L-glutamate transmembrane transporter activity	IDA	molecular function
GO:0005739	mitochondrion	HDA	cellular component
GO:0016021	integral component of membrane	NAS	cellular component

Diseases

Associated diseases	References
Global cerebral hypomyelination	KEGG:H01305
Global cerebral hypomyelination	KEGG:H01305
Asperger syndrome	PMID:24679184
Autism spectrum disorder	PMID:18180767
autistic disorder	PMID:15056512
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq