SLC25A12 - solute carrier family 25 member 12 Gene
Also Known as AGC1; DEE39; ARALAR; EIEE39
Species: Homo sapiens
About SLC25A12
This gene has 10 transcripts (splice variants), 268 orthologues, 49 paralogues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 23.7), brain (RPKM 13.5) and 23 other tissues.
Summary
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]
SLC25A12 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_003705.5 | NP_003696.2 | electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial |
| Molecular Function GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| enables 3-sulfino-L-alanine: proton, glutamate antiporter activity |
IDA
IDA: Inferred from direct assay
|
11566871 | GOA |
| enables aspartate:glutamate, proton antiporter activity |
IDA
IDA: Inferred from direct assay
|
11566871 | GOA |
| enables calcium ion binding |
IDA
IDA: Inferred from direct assay
|
9722566 | GOA |
| enables identical protein binding |
IDA
IDA: Inferred from direct assay
|
25410934 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
28514442 | GOA |
| Biological Process GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| involved in L-glutamate transmembrane transport |
IDA
IDA: Inferred from direct assay
|
11566871 | GOA |
| involved in aspartate transmembrane transport |
IDA
IDA: Inferred from direct assay
|
11566871 | GOA |
| involved in malate-aspartate shuttle |
IDA
IDA: Inferred from direct assay
|
11566871 | GOA |
| involved in response to calcium ion |
IDA
IDA: Inferred from direct assay
|
11566871 | GOA |
| Cellular Component GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| located in mitochondrial inner membrane |
IDA
IDA: Inferred from direct assay
|
11566871 | GOA |
| located in mitochondrion |
IDA
IDA: Inferred from direct assay
|
9722566 | GOA |
SLC25A12 Protein Structure
EF-hand_6: EF-hand domain (92 - 116)
Mito_carr: Mitochondrial carrier protein (329 - 419)
Mito_carr: Mitochondrial carrier protein (424 - 512)
Mito_carr: Mitochondrial carrier protein (519 - 606)
- 0
- 200
- 400
- 600
- 678 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial calcium-binding mitochondrial carrier protein Aralar1 |
|
|
SLC25A12 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Références |
|---|---|---|---|---|---|---|---|
|
Intra
|
SLC25A12 | O75746 | MAVS | Homo sapiens | Q7Z434 | 31767682 | |
|
Intra
|
SLC25A12 | O75746 | MAVS | Homo sapiens | Q7Z434 | 31767682 |
SLC25A12 Anticorps
| Cat. No. | Nom du produit | Application | Reactivity |
|---|---|---|---|
| HY-P82240 | SLC25A12 Antibody (YA1985) | WB, IP | Human, Mouse, Rat |
| HY-P82240A | SLC25A12 Antibody (YA1985)(PBS only) | WB, IP | Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Developmental And Epileptic Encephalopathy 39 |
|
|
| Developmental And Epileptic Encephalopathy 1 |
|
|
| Citrullinemia, Type Ii, Adult-Onset |
|
|
| West Syndrome |
|
|
| Asperger Syndrome |
|
|
| Citrullinemia, Classic |
|
|
| Hyperekplexia 3 |
|
|
| Autism |
|
|
| Urea Cycle Disorder |
|
|
| Developmental And Epileptic Encephalopathy |
|
|
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
|
| Complex Partial Epilepsy |
|
|
| Autism Spectrum Disorder |
|
|
| Early Infantile Epileptic Encephalopathy |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | SLC25A12 | VGNC | VGNC:65254 |
| Macaca mulatta | SLC25A12 | VGNC | VGNC:77430 |
| Canis familiaris | SLC25A12 | VGNC | VGNC:46292 |
| Rattus norvegicus | SLC25A12 | RGD | RGD:1305181 |
| Mus musculus | SLC25A12 | MGD | MGI:1926080 |
| Bos taurus | SLC25A12 | VGNC | VGNC:34743 |
| Others | SLC25A12 | NCBI |