SLC25A15
entrez
10166
canonical
uniprot
Q9Y619
canonical
ensembl
ENSG00000102743
resolver
ensp
ENSP00000342267
resolver
ensp
ENSP00000516711
resolver
ensp
ENSP00000569712
resolver
enst
ENST00000338625
resolver
enst
ENST00000707033
resolver
enst
ENST00000899653
resolver
genesymbol
SLC25A15
resolver
genesymbol_syn
ORC1
resolver
genesymbol_syn
ORNT1
resolver
hgnc
HGNC:10985
resolver
uniprot
Q5VZD8
resolver
uniprot
Q9HC45
resolver
uniprot_entry
ORNT1_HUMAN
resolver
uniprot_sec
Q5VZD8
resolver
uniprot_sec
Q9HC45
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by pyridoxal 5'-phosphate as well as by mercurials (mersalyl, p-chloromercuribenzene sulfonate, and mercuric chloride), N-ethylmaleimide and spermine. {ECO:0000269|PubMed:12807890}.
uniprot
proteins
amino_acid_sequence
MKSNPAIQAAIDLTAGAAGGTACVLTGQPFDTMKVKMQTFPDLYRGLTDCCLKTYSQVGFRGFYKGTSPALIANIAENSVLFMCYGFCQQVVRKVAGLDKQAKLSDLQNAAAGSFASAFAALVLCPTELVKCRLQTMYEMETSGKIAKSQNTVWSVIKSILRKDGPLGFYHGLSSTLLREVPGYFFFFGGYELSRSFFASGRSKDELGPVPLMLSGGVGGICLWLAVYPVDCIKSRIQVLSMSGKQAGFIRTFINVVKNEGITALYSGLKPTMIRAFPANGALFLAYEYSRKLMMNQLEAY
uniprot
proteins
disease_involvement
DISEASE: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) [MIM:238970]: An autosomal recessive disorder of the urea cycle characterized by onset in early life. The acute phase of the disease is characterized by vomiting, ataxia, lethargy, confusion, and coma. Chronic clinical manifestations include hypotonia, developmental delay, progressive encephalopathy with mental regression, and spastic paraparesis with pyramidal signs. {ECO:0000269|PubMed:10369256, ECO:0000269|PubMed:10805333, ECO:0000269|PubMed:11552031, ECO:0000269|PubMed:11668643, ECO:0000269|PubMed:11814739, ECO:0000269|PubMed:12807890, ECO:0000269|PubMed:16601889, ECO:0000269|PubMed:19242930, ECO:0000269|PubMed:22262851, ECO:0000269|PubMed:24721342}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 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). {ECO:0000250|UniProtKB:A0A0G2K309, ECO:0000269|PubMed:12807890, ECO:0000269|PubMed:22262851, ECO:0000305|PubMed:10369256, ECO:0000305|PubMed:19242930, ECO:0000305|PubMed:24721342}.
uniprot
proteins
mass_dalton
32736
uniprot
proteins
mutagenesis
MUTAGEN 74; /note="N->A: Does not affect ornithine-ornithine exchange. Does not affect substrate specificity."; /evidence="ECO:0000269|PubMed:22262851"; MUTAGEN 81; /note="L->A: Reduced ornithine-ornithine exchange. Does not affect substrate specificity."; /evidence="ECO:0000269|PubMed:22262851"; MUTAGEN 179..301; /note="Missing: Incapable of catalyzing homo-exchanges of ornithine, arginine, lysine and citrulline."; /evidence="ECO:0000269|PubMed:12807890"; MUTAGEN 179; /note="R->K: Reduced uptake rate for ornithine transport. Favors the transport of L-arginine and L-lysine with respect to that of L-ornithine."; /evidence="ECO:0000269|PubMed:22262851"; MUTAGEN 179; /note="R->Q: Substrate specificities are markedly altered. Vmax value is 14-fold lower for ornithine as substrate."; /evidence="ECO:0000269|PubMed:22262851"; MUTAGEN 180; /note="E->D: Substrate specificities are markedly altered. Vmax value is 14-fold lower for ornithine as substrate. Decreased strongly L-ornithine transport but not L-arginine and L-lysine transport."; /evidence="ECO:0000269|PubMed:22262851"; MUTAGEN 224; /note="W->A: Exhibits an altered substrate specificity. Favors the transport of L-arginine and L-lysine with respect to that of L-ornithine."; /evidence="ECO:0000269|PubMed:22262851
uniprot
proteins
protein_family
Mitochondrial carrier (TC 2.A.29) family
uniprot
proteins
pubmed
10369256
uniprot
proteins
pubmed
10805333
uniprot
proteins
pubmed
11552031
uniprot
proteins
pubmed
11668643
uniprot
proteins
pubmed
11814739
uniprot
proteins
pubmed
12807890
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
16601889
uniprot
proteins
pubmed
19242930
uniprot
proteins
pubmed
22262851
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24721342
uniprot
proteins
pubmed
25944712
uniprot
proteins
sequence_length
301
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:Q12375}; Multi-pass membrane protein {ECO:0000255}. Mitochondrion membrane {ECO:0000269|PubMed:10369256}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 5..25; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 68..88; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 110..130; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 168..188; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 207..227; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 237..257; /note="Helical; Name=6"; /evidence="ECO:0000255
uniprot
proteins