Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Slc25a12. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 associated with autism, and mutations in this gene may also be a cause of global cerebral hypomyelination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Slc25a12
  • is located in the following cellular components:
    • mitochondrial inner membrane ^[2]
    • mitochondrion ^{[3, 4]}
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Slc25a12
  • participates in the following biological processes:
    • malate-aspartate shuttle ^[1]
  • is located in the following cellular components:
    • mitochondrion ^[1]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Slc25a12:
  • participates in the following biological processes:
    • aspartate transport
    • L-glutamate transport
    • malate-aspartate shuttle
    • response to calcium ion
  • performs the following molecular functions:
    • calcium ion binding
    • L-aspartate transmembrane transporter activity
    • L-glutamate transmembrane transporter activity
  • is located in the following cellular components:
    • mitochondrion

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Summary text based on GO annotations supported by structural data

• Slc25a12 encodes a protein or proteins that contain the following InterPro domains: Calcium-binding EF-hand, EF-Hand 1, calcium-binding site, EF-HAND 2, EF-hand-like domain, Mitochondrial carrier domain, Mitochondrial carrier protein, Mitochondrial substrate/solute carrier, indicating that the gene product:
  • participates in the following biological processes:
    • transmembrane transport

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Slc25a12 indicates that it:
  • participates in the following biological processes:
    • transport
  • performs the following molecular functions:
    • metal ion binding
  • is located in the following cellular components:
    • integral to membrane
    • membrane

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References

1. Contreras L et al. (2007) Ca2+ Activation kinetics of the two aspartate-glutamate mitochondrial carriers, aralar and citrin: role in the heart malate-aspartate NADH shuttle. J Biol Chem, 282:7098-106. (PubMed:17213189)
2. Da Cruz S et al. (2003) Proteomic analysis of the mouse liver mitochondrial inner membrane. J Biol Chem, 278:41566-71. (PubMed:12865426)
3. Pagliarini DJ et al. (2008) A mitochondrial protein compendium elucidates complex I disease biology. Cell, 134:112-23. (PubMed:18614015)
4. Sinasac DS et al. (2004) Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia. Mol Cell Biol, 24:527-36. (PubMed:14701727)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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