SLC25A15 solute carrier family 25 member 15 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC25A15provided by HGNC
Official Full Name: solute carrier family 25 member 15provided by HGNC
Primary source: HGNC:HGNC:10985
See related: Ensembl:ENSG00000102743 MIM:603861; AllianceGenome:HGNC:10985
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HHH; ORC1; ORNT1; LNC-HC; D13S327
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]
Expression: Broad expression in liver (RPKM 22.5), duodenum (RPKM 18.6) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q14.11

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (40789611..40812460)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (40008577..40031426)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (41363747..41386596)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Deficiency in SLC25A15, a hypoxia-responsive gene, promotes hepatocellular carcinoma by reprogramming glutamine metabolism.
Title: Deficiency in SLC25A15, a hypoxia-responsive gene, promotes hepatocellular carcinoma by reprogramming glutamine metabolism.
Overexpression of SLC25A15 is involved in the progression of melanoma and may predict the prognosis of melanoma.
Title: Overexpression of SLC25A15 is involved in the proliferation of cutaneous melanoma and leads to poor prognosis.
Structure/function relationships of the human mitochondrial ornithine/citrulline carrier by Cys site-directed mutagenesis. Relevance to mercury toxicity.
Title: Structure/function relationships of the human mitochondrial ornithine/citrulline carrier by Cys site-directed mutagenesis. Relevance to mercury toxicity.
Compares and contrasts all the known human SLC25A* genes and includes functional information.
Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
characterized mutations of the proposed substrate binding site in ORC1 and ORC2; demonstrated that the residue at position 179 in the 2 soforms is largely responsible for the difference in their substrate specificity;concluded that Arg-179 is a key residue in the opening of the carrier to the matrix side
Title: Substrate specificity of the two mitochondrial ornithine carriers can be swapped by single mutation in substrate binding site.
Mutation analysis revealed two novel mutations in the ORNT1 gene.
Title: Long-term follow-up of four patients affected by HHH syndrome.
Useful insights for in-depth understanding of the molecular mechanism of the HHH syndrome and developing effective drugs against the disease.
Title: Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
16 additional Hyperornithinemia-hyperammonemia-homocitrullinuria cases were collected and the spectrum of SLC25A15/ORC1 mutations, was expanded.
Title: Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.
Clinical presentations and outcomes varied significantly in HHH syndrome patients homozygous for delF188 mutations in SLC25A15.
Title: Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome MedGen: C0268540 OMIM: 238970 GeneReviews: Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2560 (e-PCR)
- UniSTS:37928

D8S2279 (e-PCR)
- UniSTS:473907

D10S16 (e-PCR)
- UniSTS:155756

D15S1477 (e-PCR)
- UniSTS:474482

D1S1423 (e-PCR)
- UniSTS:149619

D1S1425 (e-PCR)
- UniSTS:149621

RH17529 (e-PCR)
- UniSTS:81574

SLC25A15_1851 (e-PCR)
- UniSTS:281014

GDB:631813 (e-PCR)
- UniSTS:158430

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-arginine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables L-lysine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables L-ornithine transmembrane transporter activity	EXP Inferred from Experiment more info	PubMed
enables L-ornithine transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables antiporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in L-arginine transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in L-lysine transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial L-ornithine transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in urea cycle	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: mitochondrial ornithine transporter 1

Names: hyperammonemia-hyperornithinemia-homocitrullinuria syndrome; ornithine carrier 1; ornithine transporter 1; solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.