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UniProtKB - Q9Y619 (ORNT1_HUMAN)
Protein
Mitochondrial ornithine transporter 1
Gene
SLC25A15
Organism
Homo sapiens (Human)
Status
Functioni
Ornithine-citrulline antiporter. Connects the cytosolic and the intramitochondrial reactions of the urea cycle by exchanging cytosolic ornithine with matrix citrulline (PubMed:12807890).
The stoichiometry is close to 1:1 (By similarity).
By similarity1 PublicationGO - Molecular functioni
- L-ornithine transmembrane transporter activity Source: Reactome
GO - Biological processi
- mitochondrial L-ornithine transmembrane transport Source: GO_Central
- urea cycle Source: Reactome
Keywordsi
Biological process | Transport |
Enzyme and pathway databases
PathwayCommonsi | Q9Y619 |
Reactomei | R-HSA-70635, Urea cycle |
SABIO-RKi | Q9Y619 |
SignaLinki | Q9Y619 |
Protein family/group databases
TCDBi | 2.A.29.19.2, the mitochondrial carrier (mc) family |
Names & Taxonomyi
Protein namesi | Recommended name: Mitochondrial ornithine transporter 1Alternative name(s): Solute carrier family 25 member 15 |
Gene namesi | Name:SLC25A15 Synonyms:ORC11 Publication, ORNT1 ORF Names:SP1855 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:10985, SLC25A15 |
MIMi | 603861, gene |
neXtProti | NX_Q9Y619 |
VEuPathDBi | HostDB:ENSG00000102743 |
Subcellular locationi
Mitochondrion
- Mitochondrion inner membrane ; Multi-pass membrane protein By similarity
Mitochondrion
- mitochondrial inner membrane Source: Reactome
Other locations
- integral component of membrane Source: ProtInc
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 5 – 25 | Helical; Name=1Sequence analysisAdd BLAST | 21 | |
Transmembranei | 68 – 88 | Helical; Name=2Sequence analysisAdd BLAST | 21 | |
Transmembranei | 110 – 130 | Helical; Name=3Sequence analysisAdd BLAST | 21 | |
Transmembranei | 168 – 188 | Helical; Name=4Sequence analysisAdd BLAST | 21 | |
Transmembranei | 207 – 227 | Helical; Name=5Sequence analysisAdd BLAST | 21 | |
Transmembranei | 237 – 257 | Helical; Name=6Sequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Membrane, Mitochondrion, Mitochondrion inner membranePathology & Biotechi
Involvement in diseasei
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS)8 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_012757 | 27 | G → E in HHHS. 1 PublicationCorresponds to variant dbSNP:rs1208994024Ensembl. | 1 | |
Natural variantiVAR_012758 | 27 | G → R in HHHS; incapable of catalyzing homo-exchanges of ornithine, arginine, lysine and citrulline. 4 PublicationsCorresponds to variant dbSNP:rs104894430EnsemblClinVar. | 1 | |
Natural variantiVAR_058948 | 37 | M → R in HHHS; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 PublicationCorresponds to variant dbSNP:rs121908533EnsemblClinVar. | 1 | |
Natural variantiVAR_058949 | 70 | A → L in HHHS; requires 2 nucleotide substitutions; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1064793683EnsemblClinVar. | 1 | |
Natural variantiVAR_058950 | 71 | L → Q in HHHS; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 PublicationCorresponds to variant dbSNP:rs121908534EnsemblClinVar. | 1 | |
Natural variantiVAR_058951 | 113 | G → C in HHHS; exhibits very low transport activity despite normal insertion in the liposomal membrane. 2 PublicationsCorresponds to variant dbSNP:rs199894905EnsemblClinVar. | 1 | |
Natural variantiVAR_012759 | 126 | P → R in HHHS. 1 Publication | 1 | |
Natural variantiVAR_012760 | 180 | E → K in HHHS. 1 PublicationCorresponds to variant dbSNP:rs104894424EnsemblClinVar. | 1 | |
Natural variantiVAR_058952 | 188 | F → L in HHHS. 1 PublicationCorresponds to variant dbSNP:rs141028076EnsemblClinVar. | 1 | |
Natural variantiVAR_012761 | 188 | Missing in HHHS; maintains a residual transport activity of 10%. 4 PublicationsCorresponds to variant dbSNP:rs202247803Ensembl. | 1 | |
Natural variantiVAR_012762 | 190 | G → D in HHHS; maintains a residual transport activity of 35%. 3 PublicationsCorresponds to variant dbSNP:rs202247804EnsemblClinVar. | 1 | |
Natural variantiVAR_058953 | 216 | G → S in HHHS. 1 PublicationCorresponds to variant dbSNP:rs1417167600Ensembl. | 1 | |
Natural variantiVAR_058954 | 272 | T → I in HHHS; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 PublicationCorresponds to variant dbSNP:rs121908535EnsemblClinVar. | 1 | |
Natural variantiVAR_058955 | 273 | M → K in HHHS; exhibits very low transport activity despite normal insertion in the liposomal membrane. 2 PublicationsCorresponds to variant dbSNP:rs202247808EnsemblClinVar. | 1 | |
Natural variantiVAR_012764 | 275 | R → Q in HHHS. 3 PublicationsCorresponds to variant dbSNP:rs104894431EnsemblClinVar. | 1 | |
Natural variantiVAR_058956 | 283 | L → F in HHHS; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 PublicationCorresponds to variant dbSNP:rs202247809EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 10166 |
GeneReviewsi | SLC25A15 |
MalaCardsi | SLC25A15 |
MIMi | 238970, phenotype |
OpenTargetsi | ENSG00000102743 |
Orphaneti | 415, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
PharmGKBi | PA35861 |
Miscellaneous databases
Pharosi | Q9Y619, Tbio |
Chemistry databases
DrugBanki | DB00129, Ornithine |
Genetic variation databases
BioMutai | SLC25A15 |
DMDMi | 20139303 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000090650 | 1 – 301 | Mitochondrial ornithine transporter 1Add BLAST | 301 |
Proteomic databases
EPDi | Q9Y619 |
jPOSTi | Q9Y619 |
MassIVEi | Q9Y619 |
MaxQBi | Q9Y619 |
PaxDbi | Q9Y619 |
PeptideAtlasi | Q9Y619 |
PRIDEi | Q9Y619 |
ProteomicsDBi | 86587 |
PTM databases
GlyGeni | Q9Y619, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q9Y619 |
PhosphoSitePlusi | Q9Y619 |
SwissPalmi | Q9Y619 |
Expressioni
Tissue specificityi
Highly expressed in liver, pancreas, testis, lung and small intestine. Lower levels are detected in spleen, kidney, brain and heart.1 Publication
Gene expression databases
Bgeei | ENSG00000102743, Expressed in pancreas and 125 other tissues |
ExpressionAtlasi | Q9Y619, baseline and differential |
Genevisiblei | Q9Y619, HS |
Organism-specific databases
HPAi | ENSG00000102743, Tissue enhanced (intestine, liver, pancreas) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 115468, 89 interactors |
IntActi | Q9Y619, 10 interactors |
STRINGi | 9606.ENSP00000342267 |
Miscellaneous databases
RNActi | Q9Y619, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 7 – 91 | Solcar 1Add BLAST | 85 | |
Repeati | 104 – 197 | Solcar 2Add BLAST | 94 | |
Repeati | 207 – 293 | Solcar 3Add BLAST | 87 |
Sequence similaritiesi
Keywords - Domaini
Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0763, Eukaryota |
GeneTreei | ENSGT00730000110966 |
HOGENOMi | CLU_015166_16_3_1 |
InParanoidi | Q9Y619 |
OMAi | PIDCFRQ |
OrthoDBi | 1072378at2759 |
PhylomeDBi | Q9Y619 |
TreeFami | TF314880 |
Family and domain databases
Gene3Di | 1.50.40.10, 1 hit |
InterProi | View protein in InterPro IPR018108, Mitochondrial_sb/sol_carrier IPR023395, Mt_carrier_dom_sf |
Pfami | View protein in Pfam PF00153, Mito_carr, 3 hits |
SUPFAMi | SSF103506, SSF103506, 1 hit |
PROSITEi | View protein in PROSITE PS50920, SOLCAR, 3 hits |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
Q9Y619-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MKSNPAIQAA IDLTAGAAGG TACVLTGQPF DTMKVKMQTF PDLYRGLTDC
60 70 80 90 100
CLKTYSQVGF RGFYKGTSPA LIANIAENSV LFMCYGFCQQ VVRKVAGLDK
110 120 130 140 150
QAKLSDLQNA AAGSFASAFA ALVLCPTELV KCRLQTMYEM ETSGKIAKSQ
160 170 180 190 200
NTVWSVIKSI LRKDGPLGFY HGLSSTLLRE VPGYFFFFGG YELSRSFFAS
210 220 230 240 250
GRSKDELGPV PLMLSGGVGG ICLWLAVYPV DCIKSRIQVL SMSGKQAGFI
260 270 280 290 300
RTFINVVKNE GITALYSGLK PTMIRAFPAN GALFLAYEYS RKLMMNQLEA
Y
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF2Z354 | F2Z354_HUMAN | Mitochondrial ornithine transporter... | SLC25A15 | 57 | Annotation score: | ||
Q5VZD9 | Q5VZD9_HUMAN | Mitochondrial ornithine transporter... | SLC25A15 | 133 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_012757 | 27 | G → E in HHHS. 1 PublicationCorresponds to variant dbSNP:rs1208994024Ensembl. | 1 | |
Natural variantiVAR_012758 | 27 | G → R in HHHS; incapable of catalyzing homo-exchanges of ornithine, arginine, lysine and citrulline. 4 PublicationsCorresponds to variant dbSNP:rs104894430EnsemblClinVar. | 1 | |
Natural variantiVAR_058948 | 37 | M → R in HHHS; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 PublicationCorresponds to variant dbSNP:rs121908533EnsemblClinVar. | 1 | |
Natural variantiVAR_058949 | 70 | A → L in HHHS; requires 2 nucleotide substitutions; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1064793683EnsemblClinVar. | 1 | |
Natural variantiVAR_058950 | 71 | L → Q in HHHS; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 PublicationCorresponds to variant dbSNP:rs121908534EnsemblClinVar. | 1 | |
Natural variantiVAR_058951 | 113 | G → C in HHHS; exhibits very low transport activity despite normal insertion in the liposomal membrane. 2 PublicationsCorresponds to variant dbSNP:rs199894905EnsemblClinVar. | 1 | |
Natural variantiVAR_012759 | 126 | P → R in HHHS. 1 Publication | 1 | |
Natural variantiVAR_012760 | 180 | E → K in HHHS. 1 PublicationCorresponds to variant dbSNP:rs104894424EnsemblClinVar. | 1 | |
Natural variantiVAR_058952 | 188 | F → L in HHHS. 1 PublicationCorresponds to variant dbSNP:rs141028076EnsemblClinVar. | 1 | |
Natural variantiVAR_012761 | 188 | Missing in HHHS; maintains a residual transport activity of 10%. 4 PublicationsCorresponds to variant dbSNP:rs202247803Ensembl. | 1 | |
Natural variantiVAR_012762 | 190 | G → D in HHHS; maintains a residual transport activity of 35%. 3 PublicationsCorresponds to variant dbSNP:rs202247804EnsemblClinVar. | 1 | |
Natural variantiVAR_058953 | 216 | G → S in HHHS. 1 PublicationCorresponds to variant dbSNP:rs1417167600Ensembl. | 1 | |
Natural variantiVAR_012763 | 254 | I → L. Corresponds to variant dbSNP:rs17849654EnsemblClinVar. | 1 | |
Natural variantiVAR_058954 | 272 | T → I in HHHS; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 PublicationCorresponds to variant dbSNP:rs121908535EnsemblClinVar. | 1 | |
Natural variantiVAR_058955 | 273 | M → K in HHHS; exhibits very low transport activity despite normal insertion in the liposomal membrane. 2 PublicationsCorresponds to variant dbSNP:rs202247808EnsemblClinVar. | 1 | |
Natural variantiVAR_012764 | 275 | R → Q in HHHS. 3 PublicationsCorresponds to variant dbSNP:rs104894431EnsemblClinVar. | 1 | |
Natural variantiVAR_058956 | 283 | L → F in HHHS; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 PublicationCorresponds to variant dbSNP:rs202247809EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF112968 mRNA Translation: AAD45238.1 AJ309943 Genomic DNA Translation: CAC83972.1 AF177333 mRNA Translation: AAG17977.1 AL161614 Genomic DNA No translation available. CH471075 Genomic DNA Translation: EAX08630.1 BC002702 mRNA Translation: AAH02702.1 |
CCDSi | CCDS9373.1 |
RefSeqi | NP_055067.1, NM_014252.3 |
Genome annotation databases
Ensembli | ENST00000338625.9; ENSP00000342267.4; ENSG00000102743.15 |
GeneIDi | 10166 |
KEGGi | hsa:10166 |
MANE-Selecti | ENST00000338625.9; ENSP00000342267.4; NM_014252.4; NP_055067.1 |
UCSCi | uc001uxn.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF112968 mRNA Translation: AAD45238.1 AJ309943 Genomic DNA Translation: CAC83972.1 AF177333 mRNA Translation: AAG17977.1 AL161614 Genomic DNA No translation available. CH471075 Genomic DNA Translation: EAX08630.1 BC002702 mRNA Translation: AAH02702.1 |
CCDSi | CCDS9373.1 |
RefSeqi | NP_055067.1, NM_014252.3 |
3D structure databases
AlphaFoldDBi | Q9Y619 |
SMRi | Q9Y619 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 115468, 89 interactors |
IntActi | Q9Y619, 10 interactors |
STRINGi | 9606.ENSP00000342267 |
Chemistry databases
DrugBanki | DB00129, Ornithine |
Protein family/group databases
TCDBi | 2.A.29.19.2, the mitochondrial carrier (mc) family |
PTM databases
GlyGeni | Q9Y619, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q9Y619 |
PhosphoSitePlusi | Q9Y619 |
SwissPalmi | Q9Y619 |
Genetic variation databases
BioMutai | SLC25A15 |
DMDMi | 20139303 |
Proteomic databases
EPDi | Q9Y619 |
jPOSTi | Q9Y619 |
MassIVEi | Q9Y619 |
MaxQBi | Q9Y619 |
PaxDbi | Q9Y619 |
PeptideAtlasi | Q9Y619 |
PRIDEi | Q9Y619 |
ProteomicsDBi | 86587 |
Protocols and materials databases
Antibodypediai | 42171, 79 antibodies from 20 providers |
DNASUi | 10166 |
Genome annotation databases
Ensembli | ENST00000338625.9; ENSP00000342267.4; ENSG00000102743.15 |
GeneIDi | 10166 |
KEGGi | hsa:10166 |
MANE-Selecti | ENST00000338625.9; ENSP00000342267.4; NM_014252.4; NP_055067.1 |
UCSCi | uc001uxn.4, human |
Organism-specific databases
CTDi | 10166 |
DisGeNETi | 10166 |
GeneCardsi | SLC25A15 |
GeneReviewsi | SLC25A15 |
HGNCi | HGNC:10985, SLC25A15 |
HPAi | ENSG00000102743, Tissue enhanced (intestine, liver, pancreas) |
MalaCardsi | SLC25A15 |
MIMi | 238970, phenotype 603861, gene |
neXtProti | NX_Q9Y619 |
OpenTargetsi | ENSG00000102743 |
Orphaneti | 415, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
PharmGKBi | PA35861 |
VEuPathDBi | HostDB:ENSG00000102743 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0763, Eukaryota |
GeneTreei | ENSGT00730000110966 |
HOGENOMi | CLU_015166_16_3_1 |
InParanoidi | Q9Y619 |
OMAi | PIDCFRQ |
OrthoDBi | 1072378at2759 |
PhylomeDBi | Q9Y619 |
TreeFami | TF314880 |
Enzyme and pathway databases
PathwayCommonsi | Q9Y619 |
Reactomei | R-HSA-70635, Urea cycle |
SABIO-RKi | Q9Y619 |
SignaLinki | Q9Y619 |
Miscellaneous databases
BioGRID-ORCSi | 10166, 12 hits in 1081 CRISPR screens |
ChiTaRSi | SLC25A15, human |
GenomeRNAii | 10166 |
Pharosi | Q9Y619, Tbio |
PROi | PR:Q9Y619 |
RNActi | Q9Y619, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000102743, Expressed in pancreas and 125 other tissues |
ExpressionAtlasi | Q9Y619, baseline and differential |
Genevisiblei | Q9Y619, HS |
Family and domain databases
Gene3Di | 1.50.40.10, 1 hit |
InterProi | View protein in InterPro IPR018108, Mitochondrial_sb/sol_carrier IPR023395, Mt_carrier_dom_sf |
Pfami | View protein in Pfam PF00153, Mito_carr, 3 hits |
SUPFAMi | SSF103506, SSF103506, 1 hit |
PROSITEi | View protein in PROSITE PS50920, SOLCAR, 3 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | ORNT1_HUMAN | |
Accessioni | Q9Y619Primary (citable) accession number: Q9Y619 Secondary accession number(s): Q5VZD8, Q9HC45 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 11, 2002 |
Last sequence update: | November 1, 1999 | |
Last modified: | May 25, 2022 | |
This is version 184 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 13
Human chromosome 13: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families