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SLC25A30 - solute carrier family 25 member 30 Gene

Also Known as KMCP1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 253512

About SLC25A30

Cytogenetic location: 13q14.13 Genomic coordinates (GRCh38): 13:45,393,316-45,434,016 (from NCBI)

This gene has 8 transcripts (splice variants), 178 orthologues and 49 paralogues. Broad expression in heart (RPKM 22.8), kidney (RPKM 18.0) and 24 other tissues.

Summary

Although the outer mitochondrial membrane is permeable to many small metabolites, transport of solutes across the inner mitochondrial membrane is achieved by members of the mitochondrial carrier protein family, such as SLC25A30 (Haguenauer et al., 2005 [PubMed 15809292]).[supplied by OMIM, Mar 2008]

SLC25A30 Products (3)

mRNA	Protein	Name
NM_001010875.4	NP_001010875.1	kidney mitochondrial carrier protein 1 isoform 1
NM_001286806.2	NP_001273735.1	kidney mitochondrial carrier protein 1 isoform 2
NM_001286807.2	NP_001273736.1	kidney mitochondrial carrier protein 1 isoform 3

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	26387735	GOA
enables solute:inorganic anion antiporter activity	IDA IDA: Inferred from direct assay	31356773	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in inorganic anion transport	IDA IDA: Inferred from direct assay	31356773	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

SLC25A30 Protein Structure

Mito_carr

0
100
200
291 a.a.

Protein Preferred Names	Protein Names
kidney mitochondrial carrier protein 1

Related Diseases

Diseases	Alias
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

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 (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS13112	SLC25A30 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SLC25A30	RGD	RGD:1359702
Bos taurus	SLC25A30	VGNC	VGNC:34756
Macaca mulatta	SLC25A30	VGNC	VGNC:106297
Canis familiaris	SLC25A30	VGNC	VGNC:46304
Felis catus	SLC25A30	VGNC	VGNC:65268
Mus musculus	SLC25A30	MGD	MGI:1914804