SLC25A12 - solute carrier family 25 member 12 Gene

Also Known as AGC1; DEE39; ARALAR; EIEE39

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8604

About SLC25A12

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:171,783,405-171,894,244 (from NCBI)

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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC25A12 Protein Structure

EF-hand_6

EF-hand_6: EF-hand domain (92 - 116)

Mito_carr

Mito_carr: Mitochondrial carrier protein (329 - 419)

Mito_carr

Mito_carr: Mitochondrial carrier protein (424 - 512)

Mito_carr

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

  • araceli hiperlarga

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
Cross: Cross-species interaction Intra: Intraspecies interaction

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
  • Hypomyelination, Global Cerebral

  • Agc1 Deficiency

  • Epileptic Encephalopathy, Early Infantile, 39

  • DEE39

  • Eiee39

  • Aspartate-Glutamate Carrier 1 Deficiency

  • Epileptic Encephalopathy With Global Cerebral Demyelination

  • Developmental And Epileptic Encephalopathy, 39

  • Early Infantile Epileptic Encephalopathy 39

  • Mitochondrial Aspartate-Glutamate Carrier 1 Deficiency

  • Global Cerebral Hypomyelination

  • Hereditary Central Nervous System Demyelinating Diseases

Developmental And Epileptic Encephalopathy 1
  • Epileptic Encephalopathy, Early Infantile, 1

  • Infantile Epileptic-Dyskinetic Encephalopathy

  • DEE1

  • Eiee1

  • Issx1

  • Xmesid

  • X-Linked Infantile Spasm Syndrome 1

  • X-Linked Infantile Spasm Syndrome

  • X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome

  • Developmental And Epileptic Encephalopathy, 1

  • Infantile Epileptic Dyskinetic Encephalopathy

  • Infantile Spasm Syndrome, X-Linked 1

  • West Syndrome, X-Linked

  • Ohtahara Syndrome, X-Linked

  • Early Infantile Epileptic Encephalopathy 1

  • Early Infantile Epileptic Encephalopathy-1

  • Issx

  • X-Linked Ohtahara Syndrome

  • X-Linked West Syndrome

  • Infantile Spasm Syndrome X-Linked 1

  • Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity

  • Ohtahara Syndrome X-Linked

  • West Syndrome X-Linked

  • Encephalopathy, Epileptic, Early Infantile, Type 1

Citrullinemia, Type Ii, Adult-Onset
  • Citrin Deficiency

  • CTLN2

  • Citrullinemia Type Ii

  • Adult-Onset Citrullinemia Type 2

  • Adult-Onset Type Ii Citrullinemia

  • Citrullinemia, Adult-Onset Type Ii

  • Adult-Onset Citrin Deficiency

  • Adult-Onset Citrullinemia Type Ii

  • Citrullinemia Type 2

  • Citrullinemia 2

  • Citrullinemia, Type Ii

West Syndrome
  • Infantile Spasms

  • Infantile Spasms Syndrome

  • Infantile Spasm

  • X-Linked Infantile Spasm Syndrome

  • X-Linked Infantile Spasms

  • Epileptic Encephalopathy, Early Infantile, 1

  • Is

  • Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

  • West'S Syndrome

  • Spasms, Infantile

  • Is -[Infantile Spasm]

  • Salaam Spasm

  • Salaam Tic

Asperger Syndrome
  • Asperger Disorder

  • Asperger Syndrome, Susceptibility To

Citrullinemia, Classic
  • Citrullinemia

  • Classic Citrullinemia

  • Argininosuccinate Synthetase Deficiency

  • Ass Deficiency

  • Citrullinemia Type I

  • CTLN1

  • Citrullinuria

  • Citrullinemia, Type I

  • Argininosuccinic Acid Synthetase Deficiency

  • Ctnl1

  • Citrullinemia 1

  • Deficiency Of Citrulline-Aspartate Ligase

  • Cit

  • Argininosuccinate Synthase Deficiency

  • Argininosuccinic Acid Synthase Deficiency

  • Citrullinemia Type 1

  • Citrullinemia Classical

Hyperekplexia 3
  • HKPX3

  • Hyperekplexia, Type 3

Autism
  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic

Urea Cycle Disorder
  • Urea Cycle Disorders

  • Urea Cycle Disorders, Inborn

  • Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia

  • Disorder Of Urea Cycle Metabolism

  • Urea Cycle Defect

  • Ucd

  • Disorder Of The Urea Cycle Metabolism

  • Disorder Of Urea Cycle

  • Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia

  • Ammonia Metabolic Disorder

Developmental And Epileptic Encephalopathy
  • Encephalopathy, Developmental And Epileptic

Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
  • Foxp1 Syndrome

  • Mental Retardation With Language Impairment And With Or Without Autistic Features

  • Foxp1 Related Global Developmental Delay, Intellectual Disability And Speech Defects

  • Intellectual Disability With Language Impairment And With Or Without Autistic Features

Complex Partial Epilepsy
  • Epilepsy, Complex Partial

  • Complex Partial Epileptic Seizure

  • Epilepsy, Psychomotor

  • Psychomotor Epilepsy

Autism Spectrum Disorder
  • Asd

  • Autism Spectrum Disorders

  • Autistic Continuum

  • Pervasive Developmental Disorder

  • Pervasive Development Disorder

  • Autistic Behavior

  • Autistic Disorder

  • Autistic

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Childhood Autism

  • Kanner Syndrome

  • Pervasive Developmental Delay Nos

  • Pervasive Developmental Disorder, Not Otherwise Specified

Early Infantile Epileptic Encephalopathy
  • Early Infantile Epileptic Encephalopathy With Burst-Suppression

  • Early Infantile Epileptic Encephalopathy With Suppression Bursts

  • Eiee

  • Early Infantile Epileptic Encephalopathy With Suppression-Bursts

  • Ohtahara Syndrome

  • Encephalopathy, Epileptic, Early Infantile

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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