SLC25A15 - solute carrier family 25 member 15 Gene

Also Known as HHH; ORC1; ORNT1; LNC-HC; D13S327

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10166

About SLC25A15

Cytogenetic location: 13q14.11 Genomic coordinates (GRCh38): 13:40,789,611-40,812,460 (from NCBI)

This gene has 4 transcripts (splice variants), 253 orthologues, 49 paralogues and is associated with 3 phenotypes. Broad expression in liver (RPKM 22.5), duodenum (RPKM 18.6) and 18 other tissues.

Summary

This gene is a member of the mitochondrial carrier family. The encoded protein transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. The protein is an essential component of the urea cycle, and functions in ammonium detoxification and biosynthesis of the amino acid arginine. Mutations in this gene result in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. There is a pseudogene of this locus on the Y chromosome.[provided by RefSeq, May 2009]

SLC25A15 Products (1)

mRNA	Protein	Name
NM_014252.4	NP_055067.1	mitochondrial ornithine transporter 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables L-arginine transmembrane transporter activity	IDA IDA: Inferred from direct assay	12807890	GOA
enables L-lysine transmembrane transporter activity	IDA IDA: Inferred from direct assay	12807890	GOA
enables L-ornithine transmembrane transporter activity	EXP EXP: Inferred from Experiment	12807890	GOA
enables antiporter activity	IDA IDA: Inferred from direct assay	12807890	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in L-arginine transmembrane transport	IDA IDA: Inferred from direct assay	12807890	GOA
involved in L-lysine transmembrane transport	IDA IDA: Inferred from direct assay	12807890	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	10369256	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

SLC25A15 Protein Structure

Mito_carr

0
100
200
301 a.a.

Protein Preferred Names	Protein Names
mitochondrial ornithine transporter 1	hyperammonemia-hyperornithinemia-homocitrullinuria syndrome

Related Diseases

Diseases	Alias
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hhh Syndrome Ornithine Translocase Deficiency Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome HHHS Hhh Triple H Syndrome Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Ornithine Translocase Deficiency Syndrome Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome Ornt1 Deficiency Ornithine Carrier Deficiency Hyperornithinemia, Hyperammonemia, Homocitrullinuria Syndrome
Gyrate Atrophy Of Choroid And Retina	Gyrate Atrophy Ornithine Aminotransferase Deficiency HOGA Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina Oat Deficiency Okt Deficiency Hyperornithinemia Ornithine Keto Acid Aminotransferase Deficiency Ornithine-Delta-Aminotransferase Deficiency Gyrate Atrophy Of The Choroid And Retina GACR Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia Gyrate Atrophy Of The Retina Ornithinemia With Gyrate Atrophy Ornithinemia Fuchs Atrophia Gyrata Chorioideae Et Retinae Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome Gyrate Atrophy Of The Choroid And/Or Retina Girate Atrophy Of The Retina Ornithine Ketoacid Aminotransferase Deficiency Atrophy, Gyrate, Of Choroid And Retina
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	CA5AD Hyperammonemia Due To Carbonic Anhydrase Va Deficiency Hyperammonemia
Deafness, Autosomal Recessive 65	DFNB65 Autosomal Recessive Nonsyndromic Deafness 65 Autosomal Recessive Deafness 65
Citrullinemia, Type Ii, Adult-Onset	Citrin Deficiency CTLN2 Citrullinemia Type Ii Adult-Onset Citrullinemia Type 2 Adult-Onset Type Ii Citrullinemia Citrullinemia, Adult-Onset Type Ii Adult-Onset Citrin Deficiency Adult-Onset Citrullinemia Type Ii Citrullinemia Type 2 Citrullinemia 2 Citrullinemia, Type Ii
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Carbamoyl Phosphate Synthetase I Deficiency Cps I Deficiency Carbamoyl Phosphate Synthetase I Deficiency Disease Carbamoyl-Phosphate Synthase I Deficiency Disease Congenital Hyperammonemia, Type I Carbamoylphosphate Synthetase I Deficiency Carbamoyl Phosphate Synthetase 1 Deficiency CPS1D Carbamoyl Phosphate Synthetase Deficiency Cps 1 Deficiency Carbamyl Phosphate Synthetase Deficiency Hyperammonemia Due To Carbamoyl Phosphate Synthetase 1 Deficiency Carbamyl-Phosphate Synthetase I Deficiency Disease Carbamoyl-Phosphate Synthetase 1 Deficiency Cps1 Deficiency Carbamoyl-Phosphate Synthetase I Deficiency Carbamoyl-Phosphate Synthetase Deficiency Hyperammonemia Due To Carbamoyl Phosphate Synthetase I Deficiency Deficiency, Carbamoylphosphate Synthetase I Carbamylphosphate Synthetase Deficiency
N-Acetylglutamate Synthase Deficiency	Nags Deficiency N-Acetylglutamate Synthetase Deficiency Hyperammonemia, Type Iii Hyperammonemia Due To N-Acetylglutamate Synthetase Deficiency NAGSD Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency N-Acetyl Glutamate Synthetase Deficiency Nag Synthetase Deficiency Deficiency, N-Acetylglutamate Synthase
Urea Cycle Disorder	Urea Cycle Disorders Urea Cycle Disorders, Inborn Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia Disorder Of Urea Cycle Metabolism Urea Cycle Defect Ucd Disorder Of The Urea Cycle Metabolism Disorder Of Urea Cycle Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia Ammonia Metabolic Disorder
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Ornithine Carbamoyltransferase Deficiency Ornithine Transcarbamylase Deficiency Otc Deficiency Ornithine Carbamoyltransferase Deficiency Disease OTCD Deficiency Of Citrulline Phosphorylase Oct Deficiency Hyperammonemia Due To Ornithine Carbamoyltransferase Deficiency Deficiency, Ornithine Carbamoyltransferase
Argininosuccinic Aciduria	Argininosuccinate Lyase Deficiency Asl Deficiency Argininosuccinic Acid Lyase Deficiency Argininosuccinase Deficiency Argininosuccinic Acidemia Arginosuccinase Deficiency Asa Deficiency Argininosuccinicaciduria Asauria Deficiency Of Argininosuccinate Lyase Asld Arginino Succinase Deficiency Argininosuccinate Acidemia Inborn Error Of Urea Synthesis, Arginino Succinic Type Urea Cycle Disorder, Arginino Succinase Type Argininosuccinyl-Coa Lyase Deficiency Asa Argininosuccinatelyase Deficiency ARGINSA Aciduria Argininosuccinic Citrullinemia Argininosuccinic Acidaemia Metabolic Disorder Of Arginosuccinic Acid
Hyperekplexia 3	HKPX3 Hyperekplexia, Type 3
Citrullinemia, Classic	Citrullinemia Classic Citrullinemia Argininosuccinate Synthetase Deficiency Ass Deficiency Citrullinemia Type I CTLN1 Citrullinuria Citrullinemia, Type I Argininosuccinic Acid Synthetase Deficiency Ctnl1 Citrullinemia 1 Deficiency Of Citrulline-Aspartate Ligase Cit Argininosuccinate Synthase Deficiency Argininosuccinic Acid Synthase Deficiency Citrullinemia Type 1 Citrullinemia Classical
Argininemia	Hyperargininemia Arginase Deficiency Arg1 Deficiency Arginase-1 Deficiency Deficiency Of Canavanase Arginase Deficiency Disease ARGIN
Spastic Paraparesis
Orotic Aciduria	Hereditary Orotic Aciduria Orotidylic Pyrophosphorylase And Orotidylic Decarboxylase Deficiency Uridine Monophosphate Synthase Deficiency Umps Deficiency Uridine Monophosphate Synthetase Deficiency Orotic Aciduria I Orotate Phosphoribosyltransferase And Orotidylic Decarboxylase Deficiency Oprt And Odc Deficiency Ump Synthase Deficiency Orotic Aciduria Ii Oroticaciduria 1 Orotic Aciduria Hereditary Orotic Aciduria Type 1 Hereditary Orotic Aciduria Without Megaloblastic Anemia Orotate Phosphoribosyltransferase And Omp Decarboxylase Deficiency Ump Synthtase Deficiency Umps Orotidylic Decarboxylase Deficiency Orotic Aciduria 1 ORAC1 Aciduria, Orotic Hereditary Orotic Aciduria, Type 1 Orotic Aciduria Nos Orotaciduric Anaemia Orotic Aciduria Anaemia Orotic Aciduria Megaloblastic Anaemia
Pyrimidine Metabolic Disorder	Disorder Of Pyrimidine Metabolism Pyrimidine Metabolism Disorder
Amino Acid Metabolic Disorder	Amino Acid Metabolism, Inborn Errors Inborn Errors Of Amino Acid Metabolism Disorder Of Amino Acid Metabolism Amino Acid Metabolism Disorders
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13095	SLC25A15 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29486	SLC25A15 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SLC25A15	VGNC	VGNC:54486
Mus musculus	SLC25A15	MGD	MGI:1342274
Felis catus	SLC25A15	VGNC	VGNC:65257
Rattus norvegicus	SLC25A15	RGD	RGD:1311488
Canis familiaris	SLC25A15	VGNC	VGNC:54359
Others	SLC25A15	NCBI