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Aliases for SLC25A15 Gene

Aliases for SLC25A15 Gene

  • Solute Carrier Family 25 (Mitochondrial Carrier; Ornithine Transporter) Member 15 2 3
  • ORNT1 3 4 6
  • Solute Carrier Family 25 Member 15 3 4
  • Ornithine Transporter 1 2 3
  • HHH 3 6
  • Mitochondrial Ornithine Transporter 1 3
  • D13S327 3
  • ORC1 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 (Mitochondrial Carrier; Ornithine Transporter) Member 15) is a Protein Coding gene. Diseases associated with SLC25A15 include hyperornithinemia-hyperammonemia-homocitrullinemia syndrome and urea cycle disorder. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. 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

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

Genomics for SLC25A15 Gene

Regulatory Elements for SLC25A15 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SLC25A15 Gene

Start:
40,789,411 bp from pter
End:
40,812,460 bp from pter
Size:
23,050 bases
Orientation:
Plus strand

Genomic View for SLC25A15 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for SLC25A15 Gene at MOPED

Post-translational modifications for SLC25A15 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC25A15 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC25A15 Gene

Domains for SLC25A15 Gene

Gene Families for SLC25A15 Gene

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 :
  • Q9Y619
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
Similarity:
  • Contains 3 Solcar repeats.
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

Gene Ontology (GO) - Molecular Function for SLC25A15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000064 L-ornithine transmembrane transporter activity TAS 10369256
genes like me logo Genes that share ontologies with SLC25A15: view

Animal Model Products

CRISPR Products

miRNA for SLC25A15 Gene

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for SLC25A15 Gene COMPARTMENTS Subcellular localization image for SLC25A15 gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 2
endoplasmic reticulum 1
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC25A15 Gene

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

Pathways for SLC25A15 Gene

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

Pathways by source for SLC25A15 Gene

1 Cell Signaling Technology pathway for SLC25A15 Gene
1 KEGG pathway for SLC25A15 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Mitochondria in human,mouse,rat
    • Mitochondrial Energy Metabolism in human,mouse,rat

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:0006520 cellular amino acid metabolic process TAS 10369256
GO:0006810 transport --
GO:0034641 cellular nitrogen compound metabolic process TAS --
genes like me logo Genes that share ontologies with SLC25A15: view

Compounds for SLC25A15 Gene

(1) HMDB Compounds for SLC25A15 Gene

Compound Synonyms Cas Number PubMed IDs
Ornithine
  • (+)-S-Ornithine
70-26-8

(1) Drugbank Compounds for SLC25A15 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Ornithine
  • (S)-2,5-Diaminopentanoate
70-26-8 target

(2) Novoseek inferred chemical compound relationships for SLC25A15 Gene

Compound -log(P) Hits PubMed IDs
ornithine 79.8 14
urea 47.1 3
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:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC25A15

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry 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 for SLC25A15 Gene

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

This gene is overexpressed in Liver (13.8) and Pancreas (6.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SLC25A15 Gene

SOURCE GeneReport for Unigene cluster for SLC25A15 Gene Hs.646645

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

In Situ Assay Products

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 ptr-mir-621 36
  • 99 (a)
OneToOne
SLC25A15 35
  • 99.22 (n)
  • 99.34 (a)
cow
(Bos Taurus)
Mammalia SLC25A15 35
  • 89.81 (n)
  • 95.35 (a)
SLC25A15 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC25A15 35
  • 89.15 (n)
  • 93.69 (a)
SLC25A15 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc25a15 35
  • 86.49 (n)
  • 95.02 (a)
Slc25a15 16
Slc25a15 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 87 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 38 (a)
ManyToMany
-- 36
  • 86 (a)
ManyToMany
-- 36
  • 90 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Slc25a15 35
  • 85.22 (n)
  • 94.67 (a)
chicken
(Gallus gallus)
Aves SLC25A15 35
  • 75.53 (n)
  • 80.4 (a)
SLC25A15 36
  • 80 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 81 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia slc25a15 35
  • 73.91 (n)
  • 77.59 (a)
zebrafish
(Danio rerio)
Actinopterygii slc25a15a 35
  • 68.45 (n)
  • 67.56 (a)
slc25a15a 36
  • 66 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG1628 35
  • 53.52 (n)
  • 48.1 (a)
CG1628 36
  • 31 (a)
OneToMany
CG1628 37
  • 47 (a)
worm
(Caenorhabditis elegans)
Secernentea T10F2.2 35
  • 53.06 (n)
  • 51.47 (a)
T10F2.2 36
  • 47 (a)
OneToMany
T10F2.2 37
  • 49 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GGC1 38
ORT1 36
  • 30 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4052 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
OneToMany
Species with no ortholog for SLC25A15:
  • 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

Selected 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 Sequence Context AA Info Type MAF
rs1536805 -- 40,795,522(+) ACACA(C/T)TGTCC intron-variant
rs1536806 -- 40,795,595(+) TAGAG(A/C)TGCTG intron-variant
rs1536807 -- 40,795,654(+) AGGAT(A/G)GGGAG intron-variant
rs1536808 -- 40,795,986(+) AATGC(A/G)TCTGC intron-variant
rs2297015 -- 40,790,015(+) GGCGG(C/T)GAACG intron-variant

Relevant External Links for SLC25A15 Gene

HapMap Linkage Disequilibrium report
SLC25A15
Human Gene Mutation Database (HGMD)
SLC25A15
Locus Specific Mutation Databases (LSDB)
SLC25A15

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SLC25A15 Gene

Disorders for SLC25A15 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for SLC25A15 Gene including...

Search for SLC25A15 Gene in MalaCards »

(1) OMIM Diseases for SLC25A15 Gene (603861)

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.

(1) University of Copenhagen DISEASES for SLC25A15 Gene

(3) Novoseek inferred disease relationships for SLC25A15 Gene

Disease -log(P) Hits PubMed IDs
hhh syndrome 99.5 20
gyrate atrophy 92.1 5
hyperammonemia 89.4 5

Relevant External Links for SLC25A15

Genetic Association Database (GAD)
SLC25A15
Human Genome Epidemiology (HuGE) Navigator
SLC25A15
genes like me logo Genes that share disorders with SLC25A15: view

Publications for SLC25A15 Gene

  1. Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. (PMID: 10369256) Camacho J.A. … Valle D. (Nat. Genet. 1999) 2 3 4 23
  2. Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. (PMID: 10805333) Tsujino S. … Yamada T. (Ann. Neurol. 2000) 3 4 23
  3. Clinical and molecular findings in hyperornithinemia-hyperammonemia- homocitrullinuria syndrome. (PMID: 11552031) Salvi S. … Dionisi-Vici C. (Neurology 2001) 3 4 23
  4. Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. (PMID: 11668643) Salvi S. … Santorelli F.M. (Hum. Mutat. 2001) 3 4 23
  5. A novel mutation, P126R, in a Japanese patient with HHH syndrome. (PMID: 11814739) Miyamoto T. … Tsujino S. (Pediatr. Neurol. 2002) 3 4 23

Products for SLC25A15 Gene

Sources for SLC25A15 Gene

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