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SLC25A15 (solute carrier family 25 member 15)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10166
Gene nameGene Name - the full gene name approved by the HGNC.
Solute carrier family 25 member 15
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SLC25A15
SynonymsGene synonyms aliases
D13S327, HHH, LNC-HC, ORC1, ORNT1
ChromosomeChromosome number
13
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q14.11
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
Sequence length 301
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Urea cycle
Associated diseases
Causal
Disease name Disease term 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, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Encephalopathy Acute encephalopathy rs118204095, rs118204096, rs118204101, rs118204109, rs118204119, rs28939378, rs121908531, rs28936674, rs80359829, rs80359828, rs80359816, rs80359814, rs2124448824, rs121909739, rs121909740, rs267607061, rs80359818, rs387906935, rs1563989427, rs387907312, rs387907313, rs397514615, rs587784391, rs587784397, rs587784396, rs587784390, rs587784393, rs75485205, rs794729221, rs368311455, rs796053264, rs796053263, rs796053254, rs796053253, rs80359823, rs794727642, rs796053272, rs80359841, rs375169579, rs747753388, rs863224237, rs863223953, rs864309522, rs864321623, rs200659479, rs864321622, rs369160589, rs878853161, rs879253874, rs879255685, rs886037861, rs879255686, rs886037862, rs753829320, rs879255690, rs886039517, rs769525399, rs776095655, rs886041590, rs1057517515, rs1057517477, rs1057517729, rs1057517822, rs1057518953, rs1057518694, rs1057521967, rs1057520545, rs1057521066, rs80359832, rs368458768, rs1131691330, rs539962457, rs1190703859, rs776874412, rs1417315589, rs1553155986, rs1553156053, rs1553156051, rs1553156069, rs1554523224, rs1553157935, rs1553155973, rs1555202947, rs1555203557, rs1259158687, rs1413339367, rs753161833, rs143595616, rs1285225437, rs1553169629, rs1553169787, rs762366252, rs1553170029, rs1187631754, rs1553169720, rs1479104927, rs1345986424, rs1557646673, rs1565548029, rs80359819, rs563025075, rs1210153519, rs1557646075, rs1570590834, rs1570592933, rs80359812, rs1570593665, rs760398697, rs1570601007, rs1387203768, rs1570592844, rs1570593820, rs1570601060, rs1592661973, rs1570590859, rs1570590905, rs1341055534, rs1570592604, rs201966320, rs1645359135, rs751557097, rs752468216, rs80359824, rs1159593580, rs1677398842
Unknown
Disease name Disease term dbSNP ID References
Blood coagulation disorders Blood Coagulation Disorders
Cerebral cortical atrophy Cerebral cortical atrophy
Chorioretinal atrophy Chorioretinal atrophy
Impaired cognition Impaired cognition

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