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-... See more...

Aliases for SLC25A15 Gene

Aliases for SLC25A15 Gene

  • Solute Carrier Family 25 Member 15 2 3 4 5
  • ORC1 2 3 4
  • Solute Carrier Family 25 (Mitochondrial Carrier; Ornithine Transporter) Member 15 2 3
  • Mitochondrial Ornithine Transporter 1 3 4
  • Ornithine Transporter 1 2 3
  • Ornithine Carrier 1 2 3
  • D13S327 2 3
  • ORNT1 3 4
  • SLC25A15 5
  • LNC-HC 3
  • HHH 3

External Ids for SLC25A15 Gene

Previous HGNC Symbols for SLC25A15 Gene

  • ORNT1
  • HHH

Previous GeneCards Identifiers for SLC25A15 Gene

  • GC13P039350
  • GC13P035350
  • GC13P040300
  • GC13P039161
  • GC13P040261
  • GC13P041363
  • GC13P022163

Summaries for SLC25A15 Gene

Entrez Gene Summary for SLC25A15 Gene

  • 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]

GeneCards Summary for SLC25A15 Gene

SLC25A15 (Solute Carrier Family 25 Member 15) is a Protein Coding gene. Diseases associated with SLC25A15 include Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome and Gyrate Atrophy Of Choroid And Retina. Among its related pathways are Viral mRNA Translation and Regulation of activated PAK-2p34 by proteasome mediated degradation. Gene Ontology (GO) annotations related to this gene include L-ornithine transmembrane transporter activity. An important paralog of this gene is SLC25A2.

UniProtKB/Swiss-Prot Summary for SLC25A15 Gene

  • Ornithine-citrulline antiporter. Connects the cytosolic and the intramitochondrial reactions of the urea cycle by exchanging cytosolic ornithine with matrix citrulline (PubMed:12807890). The stoichiometry is close to 1:1 (By similarity).

Additional gene information for SLC25A15 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC25A15 Gene

Genomics for SLC25A15 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC25A15 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC25A15 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC25A15

Top Transcription factor binding sites by QIAGEN in the SLC25A15 gene promoter:
  • c-Myc
  • Cart-1
  • Max1
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4
  • STAT5A

Genomic Locations for SLC25A15 Gene

Genomic Locations for SLC25A15 Gene
chr13:40,789,412-40,812,460
(GRCh38/hg38)
Size:
23,049 bases
Orientation:
Plus strand
chr13:41,363,547-41,386,596
(GRCh37/hg19)
Size:
23,050 bases
Orientation:
Plus strand

Genomic View for SLC25A15 Gene

Genes around SLC25A15 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A15 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A15 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A15 Gene

Proteins for SLC25A15 Gene

  • Protein details for SLC25A15 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y619-ORNT1_HUMAN
    Recommended name:
    Mitochondrial ornithine transporter 1
    Protein Accession:
    Q9Y619
    Secondary Accessions:
    • Q5VZD8
    • Q9HC45

    Protein attributes for SLC25A15 Gene

    Size:
    301 amino acids
    Molecular mass:
    32736 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC25A15 Gene

Post-translational modifications for SLC25A15 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC25A15 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC25A15 Gene

Domains & Families for SLC25A15 Gene

Gene Families for SLC25A15 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC25A15 Gene

Suggested Antigen Peptide Sequences for SLC25A15 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51231, highly similar to Mitochondrial ornithine transporter 1 (B4DL63_HUMAN)
  • Solute carrier family 25 member 15 (ORNT1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y619

UniProtKB/Swiss-Prot:

ORNT1_HUMAN :
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
genes like me logo Genes that share domains with SLC25A15: view

Function for SLC25A15 Gene

Molecular function for SLC25A15 Gene

UniProtKB/Swiss-Prot Function:
Ornithine-citrulline antiporter. Connects the cytosolic and the intramitochondrial reactions of the urea cycle by exchanging cytosolic ornithine with matrix citrulline (PubMed:12807890). The stoichiometry is close to 1:1 (By similarity).
GENATLAS Biochemistry:
solute carrier family 25,member A15,ornithine transporter,inner mitochondrial membrane,expressed in liver and pancreas with variated changes in dietary protein linked to ornithine translocase

Phenotypes From GWAS Catalog for SLC25A15 Gene

Gene Ontology (GO) - Molecular Function for SLC25A15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000064 L-ornithine transmembrane transporter activity TAS,IBA 21873635
genes like me logo Genes that share ontologies with SLC25A15: view
genes like me logo Genes that share phenotypes with SLC25A15: view

Human Phenotype Ontology for SLC25A15 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC25A15 Gene

MGI Knock Outs for SLC25A15:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A15

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC25A15 Gene

Localization for SLC25A15 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A15 Gene

Mitochondrion inner membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC25A15 gene
Compartment Confidence
mitochondrion 4
cytosol 3
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC25A15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC25A15: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC25A15 Gene

Pathways & Interactions for SLC25A15 Gene

genes like me logo Genes that share pathways with SLC25A15: view

Pathways by source for SLC25A15 Gene

Gene Ontology (GO) - Biological Process for SLC25A15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000050 urea cycle TAS --
GO:1990575 mitochondrial L-ornithine transmembrane transport TAS,IBA 21873635
genes like me logo Genes that share ontologies with SLC25A15: view

No data available for SIGNOR curated interactions for SLC25A15 Gene

Drugs & Compounds for SLC25A15 Gene

(2) Drugs for SLC25A15 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ornithine Approved Nutra Target 84
genes like me logo Genes that share compounds with SLC25A15: view

Transcripts for SLC25A15 Gene

mRNA/cDNA for SLC25A15 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A15

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A15 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b
SP1:
SP2: -

Relevant External Links for SLC25A15 Gene

GeneLoc Exon Structure for
SLC25A15

Expression for SLC25A15 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC25A15 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Liver (Hepatobiliary System)

mRNA differential expression in normal tissues according to GTEx for SLC25A15 Gene

This gene is overexpressed in Liver (x13.8) and Pancreas (x6.4).

Protein differential expression in normal tissues from HIPED for SLC25A15 Gene

This gene is overexpressed in Gallbladder (35.2), Bone (11.5), and Liver (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC25A15 Gene



Protein tissue co-expression partners for SLC25A15 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC25A15

SOURCE GeneReport for Unigene cluster for SLC25A15 Gene:

Hs.646645

mRNA Expression by UniProt/SwissProt for SLC25A15 Gene:

Q9Y619-ORNT1_HUMAN
Tissue specificity: Highly expressed in liver, pancreas, testis, lung and small intestine. Lower levels are detected in spleen, kidney, brain and heart.

Evidence on tissue expression from TISSUES for SLC25A15 Gene

  • Liver(4.6)
  • Skin(4.4)
  • Blood(2.3)
  • Nervous system(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A15 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • eye
  • eyelid
  • head
Thorax:
  • esophagus
Abdomen:
  • liver
  • stomach
Limb:
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with SLC25A15: view

Orthologs for SLC25A15 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC25A15 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC25A15 30
  • 99.22 (n)
ptr-mir-621 31
  • 99 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 90 (a)
ManyToMany
-- 31
  • 86 (a)
ManyToMany
-- 31
  • 38 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia SLC25A15 30 31
  • 89.81 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC25A15 30 31
  • 89.15 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 87 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Slc25a15 30 17 31
  • 86.49 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc25a15 30
  • 85.22 (n)
Chicken
(Gallus gallus)
Aves SLC25A15 30 31
  • 75.53 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 81 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc25a15 30
  • 73.91 (n)
Zebrafish
(Danio rerio)
Actinopterygii slc25a15a 30 31
  • 68.45 (n)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG1628 30 31 32
  • 53.52 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea T10F2.2 30 31 32
  • 53.06 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ORT1 31
  • 30 (a)
OneToMany
GGC1 33
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 46 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4052 30
Species where no ortholog for SLC25A15 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SLC25A15 Gene

ENSEMBL:
Gene Tree for SLC25A15 (if available)
TreeFam:
Gene Tree for SLC25A15 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC25A15: view image

Paralogs for SLC25A15 Gene

(6) SIMAP similar genes for SLC25A15 Gene using alignment to 3 proteins:

  • ORNT1_HUMAN
  • F2Z354_HUMAN
  • Q5VZD9_HUMAN
genes like me logo Genes that share paralogs with SLC25A15: view

Variants for SLC25A15 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC25A15 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
38399 Likely Pathogenic: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 40,807,405(+) C/G MISSENSE_VARIANT
645654 Uncertain Significance: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 40,809,623(+) G/A MISSENSE_VARIANT
650947 Pathogenic: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 40,807,362(+) C/A NONSENSE
656435 Pathogenic: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 40,807,355(+) G/T NONSENSE
672018 Benign: not provided 40,804,846(+) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for SLC25A15 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC25A15 Gene

Variant ID Type Subtype PubMed ID
esv3892332 CNV gain 25118596
nsv974081 CNV duplication 23825009
nsv974082 CNV duplication 23825009
nsv974083 CNV duplication 23825009

Variation tolerance for SLC25A15 Gene

Residual Variation Intolerance Score: 79.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.44; 64.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC25A15 Gene

Human Gene Mutation Database (HGMD)
SLC25A15
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A15

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A15 Gene

Disorders for SLC25A15 Gene

MalaCards: The human disease database

(22) MalaCards diseases for SLC25A15 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
  • hhhs
gyrate atrophy of choroid and retina
  • gacr
urea cycle disorder
  • disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia
carbonic anhydrase va deficiency, hyperammonemia due to
  • ca5ad
eastern equine encephalitis
  • eee
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ORNT1_HUMAN
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]: Autosomal recessive disorder resulting in various neurologic symptoms, including mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia, and episodic disturbance of consciousness or coma caused by hyperammonemia. It causes a functional impairment of the urea cycle. {ECO:0000269 PubMed:10369256, ECO:0000269 PubMed:10805333, ECO:0000269 PubMed:11552031, ECO:0000269 PubMed:11668643, ECO:0000269 PubMed:11814739, ECO:0000269 PubMed:16601889, ECO:0000269 PubMed:19242930}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC25A15

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SLC25A15: view

No data available for Genatlas for SLC25A15 Gene

Publications for SLC25A15 Gene

  1. Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. (PMID: 10369256) Camacho JA … Valle D (Nature genetics 1999) 2 3 4 23
  2. Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study. (PMID: 19242930) Tessa A … Santorelli FM (Human mutation 2009) 3 4 23
  3. Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family. (PMID: 14759633) Korman SH … Tsujino S (Journal of the neurological sciences 2004) 3 23 26
  4. A novel mutation, P126R, in a Japanese patient with HHH syndrome. (PMID: 11814739) Miyamoto T … Tsujino S (Pediatric neurology 2002) 3 4 23
  5. Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. (PMID: 11668643) Salvi S … Santorelli FM (Human mutation 2001) 3 4 23

Products for SLC25A15 Gene

  • Signalway Proteins for SLC25A15

Sources for SLC25A15 Gene