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Details on Person UniProt:Q9Y619 SLC25A15

Class:IdReferenceGeneProduct:61004
_chainChangeLogchain:1-301 added on Fri February 6 2015
_displayNameUniProt:Q9Y619 SLC25A15
_timestamp2025-02-21 19:10:17
chainchain:1-301
checksum34436A15B105DC53
commentFUNCTION 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 thus leading to an electroneutral transport. Plays a crucial role in the urea cycle, by connecting the cytosolic and the intramitochondrial reactions of the urea cycle (Probable) (PubMed:12807890, PubMed:22262851). Lysine and arginine are also transported by the antiport mechanism (Probable) (PubMed:12807890). In addition, catalyzes an electroneutral exchange of ornithine or lysine for H(+), a reaction driven by the pH gradient across the inner membrane (By similarity).CATALYTIC ACTIVITY L-citrulline(in) + L-ornithine(out) + H(+)(in) = L-citrulline(out) + L-ornithine(in) + H(+)(out)CATALYTIC ACTIVITY L-ornithine(in) + L-arginine(out) = L-ornithine(out) + L-arginine(in)CATALYTIC ACTIVITY L-ornithine(out) + L-lysine(in) = L-ornithine(in) + L-lysine(out)CATALYTIC ACTIVITY L-lysine(out) + H(+)(in) = L-lysine(in) + H(+)(out)CATALYTIC ACTIVITY L-ornithine(out) + H(+)(in) = L-ornithine(in) + H(+)(out)ACTIVITY REGULATION Inhibited by pyridoxal 5'-phosphate as well as by mercurials (mersalyl, p-chloromercuribenzene sulfonate, and mercuric chloride), N-ethylmaleimide and spermine.BIOPHYSICOCHEMICAL PROPERTIES Highly expressed in liver, pancreas, testis, lung and small intestine. Lower levels are detected in spleen, kidney, brain and heart.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family.
descriptionrecommendedName: Mitochondrial ornithine transporter 1 alternativeName: Solute carrier family 25 member 15
geneNameSLC25A15
ORC1
ORNT1
SP1855
identifierQ9Y619
isSequenceChangedFALSE
keywordDisease variant
Membrane
Mitochondrion
Mitochondrion inner membrane
Proteomics identification
Reference proteome
Repeat
Transmembrane
Transmembrane helix
Transport
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9917590] Weiser, Joel, 2024-08-09
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
[InstanceEdit:9939033] Weiser, Joel, 2025-02-21
nameSLC25A15
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8992023] ENSEMBL:ENSG00000102743 SLC25A15 [Homo sapiens]
secondaryIdentifierORNT1_HUMAN
Q5VZD8
Q9HC45
sequenceLength301
species[Species:48887] Homo sapiens
(referenceEntity)[EntityWithAccessionedSequence:70618] SLC25A15 [mitochondrial inner membrane] [Homo sapiens]
[EntityWithAccessionedSequence:9959759] SLC25A15 L283F [mitochondrial inner membrane] [Homo sapiens]
[EntityWithAccessionedSequence:9959760] SLC25A15 F188del [mitochondrial inner membrane] [Homo sapiens]
[EntityWithAccessionedSequence:9959761] SLC25A15 M37R [mitochondrial inner membrane] [Homo sapiens]
[EntityWithAccessionedSequence:9959762] SLC25A15 T272L [mitochondrial inner membrane] [Homo sapiens]
[EntityWithAccessionedSequence:9959763] SLC25A15 G190D [mitochondrial inner membrane] [Homo sapiens]
[EntityWithAccessionedSequence:9959764] SLC25A15 A15V [mitochondrial inner membrane] [Homo sapiens]
[EntityWithAccessionedSequence:9959765] SLC25A15 G113C [mitochondrial inner membrane] [Homo sapiens]
[EntityWithAccessionedSequence:9959766] SLC25A15 R179* [mitochondrial inner membrane] [Homo sapiens]
[EntityWithAccessionedSequence:9959768] SLC25A15 T32R [mitochondrial inner membrane] [Homo sapiens]
List all 15 refering instances
(referenceSequence)[ReplacedResidue:9959673] L-glutamic acid 180 replaced with L-lysine
[ReplacedResidue:9959674] glycine 27 replaced with L-arginine
[ReplacedResidue:9959675] L-leucine 71 replaced with L-glutamine
[ReplacedResidue:9959676] L-alanine 15 replaced with L-valine
[ReplacedResidue:9959677] L-threonine 272 replaced with L-leucine
[ReplacedResidue:9959678] L-arginine 275 replaced with L-glutamine
[FragmentDeletionModification:9959680] Deletion of residues 188 to 188
[ReplacedResidue:9959681] glycine 190 replaced with L-aspartic acid
[ReplacedResidue:9959682] L-methionine 273 replaced with L-lysine
[NonsenseMutation:9959683] Nonsense mutation at L-arginine 179
List all 14 refering instances
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No pathways have been reviewed or authored by UniProt:Q9Y619 SLC25A15 (61004)