SLC25A3 - solute carrier family 25 member 3 Gene

Homo sapiens

Also known as PHC; PTP; PiC; OK/SW-cl.48

Gene ID: 5250 | Gene type: protein coding

About SLC25A3

Cytogenetic location: 12q23.1 Genomic coordinates (GRCh38): 12:98,593,686-98,606,367 (from NCBI)

This gene has 16 transcripts (splice variants), 246 orthologues, 49 paralogues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 179.1), kidney (RPKM 125.7) and 25 other tissues.

Summary

The protein encoded by this gene catalyzes the transport of phosphate into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. The protein contains three related segments arranged in tandem which are related to those found in Other characterized members of the mitochondrial carrier family. Both the N-terminal and C-terminal regions of this protein protrude toward the cytosol. Multiple alternatively spliced transcript variants have been isolated. [provided by RefSeq, Jul 2008]

SLC25A3 Products(3)

mRNA	Protein	Name
NM_002635.4	NP_002626.1	phosphate carrier protein, mitochondrial isoform b precursor
NM_005888.4	NP_005879.1	phosphate carrier protein, mitochondrial isoform a precursor
NM_213611.3	NP_998776.1	phosphate carrier protein, mitochondrial isoform b precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables protein-containing complex binding	IDA IDA: Inferred from direct assay	23209302	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

SLC25A3 Protein Structure

Mito_carr

0
100
200
300
362 a.a.

Protein Preferred Names

Protein Names

phosphate carrier protein, mitochondrial

phosphate transport protein

Related Diseases

Diseases

Alias

Mitochondrial Phosphate Carrier Deficiency

Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	MPCD
Neonatal Hypertrophic Cardiomyopathy, Respiratory Insufficiency, Hypotonia, And Lactic Acidosis

Paranoid Personality Disorder

Narcissistic Personality Disorder

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13111	SLC25A3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SLC25A3	RGD	RGD:70986
Mus musculus	SLC25A3	MGD	MGI:1353498
Macaca mulatta	SLC25A3	VGNC	VGNC:77435
Bos taurus	SLC25A3	VGNC	VGNC:49965
Felis catus	SLC25A3	VGNC	VGNC:97630
Others	SLC25A3	NCBI

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