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Aliases for SLC25A15 Gene

Aliases for SLC25A15 Gene

  • Solute Carrier Family 25 Member 15 2 3 4 5
  • Solute Carrier Family 25 (Mitochondrial Carrier; Ornithine Transporter) Member 15 2 3
  • Ornithine Transporter 1 2 3
  • ORNT1 3 4
  • Mitochondrial Ornithine Transporter 1 3
  • D13S327 3
  • ORC1 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 CDK-mediated phosphorylation and removal of Cdc6 and Viral mRNA Translation. 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 for SLC25A15 Gene

  • Ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix.

Additional gene information for SLC25A15 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC25A15 Gene

Genomics for SLC25A15 Gene

GeneHancer (GH) Regulatory Elements for SLC25A15 Gene

Promoters and enhancers for SLC25A15 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13I040788 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 568.2 +0.5 451 2.7 PKNOX1 FOXA2 ARNT ZFP64 SIN3A ETS1 ELK1 ZNF207 ZNF143 ATF7 SLC25A15 KBTBD6 MRPS31 PIR45478
GH13I040800 Enhancer 0.8 ENCODE 16.8 +12.4 12432 3.6 FOXA2 TAF1 SAP130 MAX CEBPG RAD21 YY1 TEAD3 HSF1 HNF4G SLC25A15 WBP4 PIR45478 PIR49424 TPTE2P5
GH13I040661 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 5.3 -124.4 -124396 7.2 HDGF PKNOX1 ARID4B SIN3A FEZF1 ZNF2 IRF4 ZNF207 ZNF143 FOS PIR36841 FOXO1 NAA16 LINC00548 TPTE2P5 CYCSP34 SLC25A15 GC13P040667
GH13I041014 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5 +228.7 228719 8.2 ATF1 FOXA2 SMAD1 ARNT ZNF2 IRF4 YY1 POLR2B E2F8 FOS ELF1 WBP4 SLC25A15 RGCC NAA16 GC13M041024 GC13M041023 GC13M041022 GC13M041021 GC13M041020
GH13I040770 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 5.4 -18.3 -18314 1.9 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC MRPS31 KBTBD6 LINC00548 ELF1 FOXO1 SUGT1P3 NAA16 SLC25A15 ENSG00000277794
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC25A15 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC25A15 gene promoter:

Genomic Locations for SLC25A15 Gene

Genomic Locations for SLC25A15 Gene
chr13:40,789,411-40,812,460
(GRCh38/hg38)
Size:
23,050 bases
Orientation:
Plus strand
chr13:41,363,547-41,386,596
(GRCh37/hg19)

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

No Post-translational modifications

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

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

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
UniProtKB/Swiss-Prot Function:
Ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix.

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 --
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 Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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 5
nucleus 2
cytosol 2
extracellular 1
peroxisome 1
endoplasmic reticulum 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 IBA,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

Interacting Proteins 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:0000066 mitochondrial ornithine transport TAS 10369256
GO:0006810 transport IEA --
GO:0006839 mitochondrial transport IBA --
GO:1903352 L-ornithine transmembrane transport IEA --
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 70
genes like me logo Genes that share compounds with SLC25A15: view

Transcripts for SLC25A15 Gene

mRNA/cDNA for SLC25A15 Gene

Unigene Clusters for SLC25A15 Gene

Solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
SLC25A15

Expression for SLC25A15 Gene

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

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, PaxDb, MaxQB, and MOPED for SLC25A15 Gene



Protein tissue co-expression partners for SLC25A15 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC25A15 Gene:

SLC25A15

SOURCE GeneReport for Unigene cluster for SLC25A15 Gene:

Hs.646645

Evidence on tissue expression from TISSUES for SLC25A15 Gene

  • Liver(4.5)
  • Skin(4)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • nervous
  • skeletal muscle
Organs:
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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for SLC25A15 Gene

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 33
  • 99.22 (n)
ptr-mir-621 34
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 90 (a)
ManyToMany
-- 34
  • 86 (a)
ManyToMany
-- 34
  • 38 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia SLC25A15 33 34
  • 89.81 (n)
dog
(Canis familiaris)
Mammalia SLC25A15 33 34
  • 89.15 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 87 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Slc25a15 33 16 34
  • 86.49 (n)
rat
(Rattus norvegicus)
Mammalia Slc25a15 33
  • 85.22 (n)
chicken
(Gallus gallus)
Aves SLC25A15 33 34
  • 75.53 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 81 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia slc25a15 33
  • 73.91 (n)
zebrafish
(Danio rerio)
Actinopterygii slc25a15a 33 34
  • 68.45 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1628 35 33 34
  • 53.52 (n)
worm
(Caenorhabditis elegans)
Secernentea T10F2.2 35 33 34
  • 53.06 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ORT1 34
  • 30 (a)
OneToMany
GGC1 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4052 33
Species where no ortholog for SLC25A15 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for SLC25A15 Gene

Paralogs for SLC25A15 Gene

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

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

Variants for SLC25A15 Gene

Sequence variations from dbSNP and Humsavar for SLC25A15 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs104894424 pathogenic, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, not provided, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970] 40,807,379(+) G/A coding_sequence_variant, missense_variant
rs104894429 pathogenic, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 40,807,376(+) C/T coding_sequence_variant, stop_gained
rs104894430 pathogenic, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970] 40,799,080(+) G/A coding_sequence_variant, missense_variant
rs104894431 pathogenic, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970] 40,809,585(+) G/A/T coding_sequence_variant, missense_variant
rs111782657 likely-benign, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 40,810,351(+) C/T 3_prime_UTR_variant

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

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

Disorder Aliases PubMed IDs
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
  • hhh syndrome; hhhs; hhh
gyrate atrophy of choroid and retina
  • gacr
deafness, autosomal dominant 43
  • dfna43
urea cycle disorder
  • disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia
carbonic anhydrase va deficiency, hyperammonemia due to
  • ca5ad
- 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
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 22 58
  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 22 58
  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 22 25 58
  4. A novel mutation, P126R, in a Japanese patient with HHH syndrome. (PMID: 11814739) Miyamoto T … Tsujino S (Pediatric neurology 2002) 3 4 22 58
  5. Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. (PMID: 11552031) Salvi S … Dionisi-Vici C (Neurology 2001) 3 4 22 58

Products for SLC25A15 Gene

Sources for SLC25A15 Gene

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