slc25a1a

ID

ZDB-GENE-040426-1172

Name

solute carrier family 25 member 1a

Symbol

slc25a1a Nomenclature History

Previous Names

cic (1)
slc25a1
zgc:63578 (1)

Type

protein_coding_gene

Location

Chr: 10 Mapping Details/Browsers

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable citrate secondary active transmembrane transporter activity. Involved in neuromuscular junction development. Acts upstream of or within regulation of mitochondrion organization. Predicted to be located in mitochondrial inner membrane. Predicted to be active in mitochondrion. Human ortholog(s) of this gene implicated in 2-hydroxyglutaric aciduria; combined D-2- and L-2-hydroxyglutaric aciduria; and congenital myasthenic syndrome. Orthologous to human SLC25A1 (solute carrier family 25 member 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

3 figures from 2 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:63578 (1 image)
IMAGE:7157930 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 1 Figure from Catalina-Rodriguez et al., 2012
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With slc25a1a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
combined D-2- and L-2-hydroxyglutaric aciduria	Alliance	Combined D-2- and L-2-hydroxyglutaric aciduria	615182
		Myasthenic syndrome, congenital, 23, presynaptic	618197

Associated With slc25a1a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Family	IPR049563	Tricarboxylate transport protein-like
Homologous_superfamily	IPR023395	Mitochondrial carrier domain superfamily
Repeat	IPR018108	Mitochondrial substrate/solute carrier