Human Gene SLC25A12 (ENST00000422440.7) from GENCODE V44
Description: Homo sapiens solute carrier family 25 member 12 (SLC25A12), transcript variant 2, non-coding RNA. (from RefSeq NR_047549) RefSeq Summary (NM_003705): 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]. Gencode Transcript: ENST00000422440.7 Gencode Gene: ENSG00000115840.14 Transcript (Including UTRs) Position: hg38 chr2:171,783,405-171,894,244 Size: 110,840 Total Exon Count: 18 Strand: - Coding Region Position: hg38 chr2:171,785,274-171,894,214 Size: 108,941 Coding Exon Count: 18
ID:CMC1_HUMAN DESCRIPTION: RecName: Full=Calcium-binding mitochondrial carrier protein Aralar1; AltName: Full=Mitochondrial aspartate glutamate carrier 1; AltName: Full=Solute carrier family 25 member 12; FUNCTION: Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle. SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: High levels in heart and skeletal muscle, low in brain and very low in kidney. DISEASE: Defects in SLC25A12 are the cause of global cerebral hypomyelination (GCHM) [MIM:612949]. A disorder with onset in infancy and characterized by severe psychomotor retardation, hypotonia, seizures, hypomyelination of the central nervous system, with the gray matter appearing relatively unaffected. MISCELLANEOUS: Binds calcium. SIMILARITY: Belongs to the mitochondrial carrier family. SIMILARITY: Contains 4 EF-hand domains. SIMILARITY: Contains 3 Solcar repeats.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00153 - Mitochondrial carrier protein
ModBase Predicted Comparative 3D Structure on O75746
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
