SLC25A1 - solute carrier family 25 member 1 Gene

Also Known as CIC; CTP; SEA; CMS23; D2L2AD; SLC20A3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6576

About SLC25A1

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:19,175,581-19,178,736 (from NCBI)

This gene has 5 transcripts (splice variants), 273 orthologues, 49 paralogues and is associated with 5 phenotypes. Ubiquitous expression in fat (RPKM 63.8), kidney (RPKM 36.9) and 25 other tissues.

Summary

This gene encodes a member of the mitochondrial carrier subfamily of solute carrier proteins. Members of this family include nuclear-encoded transporters that translocate small metabolites across the mitochondrial membrane. This protein regulates the movement of citrate across the inner membranes of the mitochondria. Mutations in this gene have been associated with combined D-2- and L-2-hydroxyglutaric aciduria. Pseudogenes of this gene have been identified on chromosomes 7, 11, 16, and 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

SLC25A1 Products (3)

mRNA Protein Name
NM_001256534.2 NP_001243463.1 tricarboxylate transport protein, mitochondrial isoform b
NM_001287387.2 NP_001274316.1 tricarboxylate transport protein, mitochondrial isoform c
NM_005984.5 NP_005975.1 tricarboxylate transport protein, mitochondrial isoform a precursor

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Verweise Source
enables citrate secondary active transmembrane transporter activity IDA
IDA: Inferred from direct assay
29031613 GOA
enables tricarboxylic acid transmembrane transporter activity IDA
IDA: Inferred from direct assay
29031613 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in mitochondrial citrate transmembrane transport IDA
IDA: Inferred from direct assay
29031613 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

SLC25A1 Protein Structure

Mito_carr

Mito_carr: Mitochondrial carrier protein (25 - 114)

Mito_carr

Mito_carr: Mitochondrial carrier protein (122 - 211)

Mito_carr

Mito_carr: Mitochondrial carrier protein (219 - 306)

  • 0
  • 100
  • 200
  • 311 a.a.
Protein Preferred Names Protein Names

tricarboxylate transport protein, mitochondrial

  • citrate isocitrate carrier

Related Diseases

Diseases Alias
Combined D-2- And L-2-Hydroxyglutaric Aciduria

  • D,L-2-Hydroxyglutaric Aciduria

  • D2L2AD

  • Combined D-2-Hydroxyglutaric Acidemia And L-2-Hydroxyglutaric Acidemia

  • Combined D-2-Hydroxyglutaric Aciduria And L-2-Hydroxyglutaric Aciduria

  • D,L-2-Hga

  • D,L-2-Hydroxyglutaric Acidemia

  • Combined D,L-2-Hydroxyglutaric Aciduria
Myasthenic Syndrome, Congenital, 23, Presynaptic

  • CMS23

  • Myasthenic Syndrome, Congenital, Type 23, Presynaptic
2-Hydroxyglutaric Aciduria

  • 2-Hga

  • 2-Hydroxyglutaric Acidemia

  • 2-Hydroxyglutaricaciduria

  • Combined D-2- And L-2-Hydroxyglutaric Aciduria
Presynaptic Congenital Myasthenic Syndromes

  • Presynaptic Congenital Myasthenic Syndrome

  • Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndrome

  • Congenital Myasthenia

  • Congenital Myasthenic Syndromes

  • Cms

  • Myasthenic Syndromes, Congenital

  • Myasthenic Syndromes Congenital

  • Myasthenic Syndrome, Congenital

  • Congenital Myasthenic Syndrome Ib

  • Congenital And Developmental Myasthenia

  • Developmental Myasthenia
L-2-Hydroxyglutaric Aciduria

  • L-2-Hydroxyglutaric Acidemia

  • L2HGA

  • L-2-Hga

  • Aciduria, L-2-Hydroxyglutaric

  • Combined D-2- And L-2-Hydroxyglutaric Aciduria
Digeorge Syndrome

  • Chromosome 22q11.2 Deletion Syndrome

  • DGS

  • Hypoplasia Of Thymus And Parathyroids

  • Third And Fourth Pharyngeal Pouch Syndrome

  • 22q11.2 Deletion Syndrome

  • Digeorge Sequence

  • Digeorge'S Syndrome

  • Pharyngeal Pouch Syndrome

  • Di-George Syndrome

  • Shprintzen Syndrome
Developmental And Epileptic Encephalopathy 25

  • Developmental And Epileptic Encephalopathy, 25

  • Dee25

  • Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta

  • Early Infantile Epileptic Encephalopathy 25

  • Encephalopathy, Epileptic, Early Infantile, Type 25
D-2-Hydroxyglutaric Aciduria 1

  • D-2-Hydroxyglutaric Aciduria

  • D2HGA1

  • D-2-Hga

  • D-2-Hydroxyglutaric Acidemia

  • D2ha

  • D2hga

  • Aciduria, D-2-Hydroxyglutaric, Type 1

  • Combined D-2- And L-2-Hydroxyglutaric Aciduria
Leukorrhea

  • Discharge - Leukorrhea

  • Leukorrhea Of Vagina
Chromosome 22q11.2 Deletion Syndrome, Distal

  • 22q11.2 Deletion Syndrome

  • Autosomal Dominant Opitz G/Bbb Syndrome

  • Catch22

  • Cayler Cardiofacial Syndrome

  • Conotruncal Anomaly Face Syndrome

  • Digeorge Syndrome

  • Sedlackova Syndrome

  • Shprintzen Syndrome

  • Velocardiofacial Syndrome

  • 22q11.2 Distal Deletion Syndrome

  • Distal 22q11.2 Microdeletion Syndrome

  • 22q11.2ds

  • Vcfs

  • Velo-Cardio-Facial Syndrome

  • Distal Chromosome 22q11.2 Deletion Syndrome

  • Chromosome 22q11.2 Deletion Syndrome Distal

  • Chromosome 22q11.2 Deletion Syndrome

  • Deletion 22q11.2 Syndrome

  • 22q11ds

  • Catch 22

  • Digeorge Sequence

  • Microdeletion 22q11.2

  • Monosomy 22q11

  • Takao Syndrome

  • Distal Del(22)(Q11.2)

  • Distal Monosomy 22q11.2

  • Catch 22 Syndrome

  • Chromosome Deletion Syndrome 22q11.2, Distal
Velocardiofacial Syndrome

  • Shprintzen Syndrome

  • VCFS

  • Chromosome 22q11.2 Deletion Syndrome

  • Vcf Syndrome

  • Shprintzen Vcf Syndrome

  • Vcf-Velocardiofacial Syndrome

  • Velo-Cardio-Facial Syndrome

  • Digeorge Syndrome

  • 22q11 Deletion Syndrome

  • Conotruncal Anomaly Face Syndrome
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-123986 CTPI-2 Inhibitor 99.99% Unkown
HY-RS13089 SLC25A1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18582 Slc25a1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25067 Slc25a1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus SLC25A1 RGD RGD:3703
Canis familiaris SLC25A1 VGNC VGNC:46290
Mus musculus SLC25A1 MGD MGI:1345283
Macaca mulatta SLC25A1 VGNC VGNC:77428
Bos taurus SLC25A1 VGNC VGNC:34741
Others SLC25A1 NCBI