Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10166
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 25 member 15
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC25A15
Synonyms (NCBI Gene) Gene synonyms aliases
D13S327, HHH, LNC-HC, ORC1, ORNT1
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q14.11
Summary Summary of gene provided in NCBI Entrez 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 function
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs202247806 C>A,T Pathogenic Coding sequence variant, missense variant
rs1448259297 C>T Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016548 hsa-miR-193b-3p Microarray 20304954
MIRT020002 hsa-miR-375 Microarray 20215506
MIRT025968 hsa-miR-7-5p Microarray 19073608
MIRT025968 hsa-miR-7-5p Microarray 17612493
MIRT030568 hsa-miR-24-3p Microarray 19748357
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000050 Process Urea cycle TAS
GO:0000064 Function L-ornithine transmembrane transporter activity IBA 21873635
GO:0005743 Component Mitochondrial inner membrane TAS
GO:0016021 Component Integral component of membrane IEA
GO:1990575 Process Mitochondrial L-ornithine transmembrane transport IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603861 10985 ENSG00000102743
Protein
UniProt ID Q9Y619
Protein name Mitochondrial ornithine transporter 1 (Solute carrier family 25 member 15)
Protein function Mitochondrial ornithine-citrulline antiporter (Probable) (PubMed:12807890, PubMed:22262851). Catalyzes the exchange between cytosolic ornithine and mitochondrial citrulline plus an H(+), the proton compensates the positive charge of ornithine th
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00153 Mito_carr 5 96 Mitochondrial carrier protein Family
PF00153 Mito_carr 102 202 Mitochondrial carrier protein Family
PF00153 Mito_carr 205 298 Mitochondrial carrier protein Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in liver, pancreas, testis, lung and small intestine. Lower levels are detected in spleen, kidney, brain and heart. {ECO:0000269|PubMed:12807890}.
Sequence
Sequence length 301
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Urea cycle
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Apraxia Apraxia of Phonation rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672
Cerebellar ataxia Progressive cerebellar ataxia rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Encephalopathy Acute encephalopathy rs118204095, rs118204096, rs118204101, rs118204109, rs118204119, rs28939378, rs121908531, rs28936674, rs80359829, rs80359828, rs80359816, rs80359814, rs2124448824, rs121909739, rs121909740
View all (107 more)
Unknown
Disease term Disease name Evidence References Source
Specific learning disorder Specific learning disability ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 30176945
Carcinoma Renal Cell Associate 30198869
Gait Disorders Neurologic Associate 24721342
HHH syndrome Associate 18978333, 22292090, 24473688, 24721342, 30243302, 35711415, 39597062
Hyperammonemia Associate 24721342
Liver Failure Associate 18978333
Liver Neoplasms Associate 30176945
Melanoma Stimulate 30403179
Melanoma Cutaneous Malignant Associate 30403179
Neoplasms Associate 31733095, 35503998