SLC25A1 - solute carrier family 25 member 1 Gene

Homo sapiens

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

Gene ID: 6576 | Gene type: protein coding

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	Reference	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	Reference	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

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-123986	CTPI-2	Inhibitor	99.95%	Unkown
HY-RS13089	SLC25A1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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