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UniProtKB - Q9Y619 (ORNT1_HUMAN)

Protein

Mitochondrial ornithine transporter 1

Gene

SLC25A15

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 Publication

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • mitochondrial L-ornithine transmembrane transport Source: GO_Central
  • urea cycle Source: Reactome
View the complete GO annotation on QuickGO ...

Keywordsi

Biological processTransport

Enzyme and pathway databases

ReactomeiR-HSA-70635 Urea cycle
SABIO-RKiQ9Y619

Protein family/group databases

TCDBi2.A.29.19.2 the mitochondrial carrier (mc) family

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial ornithine transporter 1
Alternative name(s):
Solute carrier family 25 member 15
Gene namesi
Name:SLC25A15
Synonyms:ORC11 Publication, ORNT1
ORF Names:SP1855
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000102743.14
HGNCiHGNC:10985 SLC25A15
MIMi603861 gene
neXtProtiNX_Q9Y619

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei5 – 25Helical; Name=1Sequence analysisAdd BLAST21
Transmembranei68 – 88Helical; Name=2Sequence analysisAdd BLAST21
Transmembranei110 – 130Helical; Name=3Sequence analysisAdd BLAST21
Transmembranei168 – 188Helical; Name=4Sequence analysisAdd BLAST21
Transmembranei207 – 227Helical; Name=5Sequence analysisAdd BLAST21
Transmembranei237 – 257Helical; Name=6Sequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive disorder resulting in various neurologic symptoms, including mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia, and episodic disturbance of consciousness or coma caused by hyperammonemia. It causes a functional impairment of the urea cycle.
See also OMIM:238970
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01275727G → E in HHH syndrome. 1 PublicationCorresponds to variant dbSNP:rs1208994024Ensembl.1
Natural variantiVAR_01275827G → R in HHH syndrome; incapable of catalyzing homo-exchanges of ornithine, arginine, lysine and citrulline. 4 PublicationsCorresponds to variant dbSNP:rs104894430EnsemblClinVar.1
Natural variantiVAR_05894837M → R in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 PublicationCorresponds to variant dbSNP:rs121908533EnsemblClinVar.1
Natural variantiVAR_05894970A → L in HHH syndrome; requires 2 nucleotide substitutions; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1064793683Ensembl.1
Natural variantiVAR_05895071L → Q in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 PublicationCorresponds to variant dbSNP:rs121908534EnsemblClinVar.1
Natural variantiVAR_058951113G → C in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 2 PublicationsCorresponds to variant dbSNP:rs199894905EnsemblClinVar.1
Natural variantiVAR_012759126P → R in HHH syndrome. 1 Publication1
Natural variantiVAR_012760180E → K in HHH syndrome. 1 PublicationCorresponds to variant dbSNP:rs104894424EnsemblClinVar.1
Natural variantiVAR_058952188F → L in HHH syndrome. 1 PublicationCorresponds to variant dbSNP:rs141028076EnsemblClinVar.1
Natural variantiVAR_012761188Missing in HHH syndrome; maintains a residual transport activity of 10%. 4 Publications1
Natural variantiVAR_012762190G → D in HHH syndrome; maintains a residual transport activity of 35%. 3 PublicationsCorresponds to variant dbSNP:rs202247804EnsemblClinVar.1
Natural variantiVAR_058953216G → S in HHH syndrome. 1 PublicationCorresponds to variant dbSNP:rs1417167600Ensembl.1
Natural variantiVAR_058954272T → I in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 PublicationCorresponds to variant dbSNP:rs121908535EnsemblClinVar.1
Natural variantiVAR_058955273M → K in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 2 PublicationsCorresponds to variant dbSNP:rs202247808EnsemblClinVar.1
Natural variantiVAR_012764275R → Q in HHH syndrome. 3 PublicationsCorresponds to variant dbSNP:rs104894431EnsemblClinVar.1
Natural variantiVAR_058956283L → F in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 PublicationCorresponds to variant dbSNP:rs202247809EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi10166
GeneReviewsiSLC25A15
MalaCardsiSLC25A15
MIMi238970 phenotype
OpenTargetsiENSG00000102743
Orphaneti415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
PharmGKBiPA35861

Chemistry databases

DrugBankiDB00129 L-Ornithine

Polymorphism and mutation databases

BioMutaiSLC25A15
DMDMi20139303

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000906501 – 301Mitochondrial ornithine transporter 1Add BLAST301

Proteomic databases

EPDiQ9Y619
MaxQBiQ9Y619
PaxDbiQ9Y619
PeptideAtlasiQ9Y619
PRIDEiQ9Y619
ProteomicsDBi86587

PTM databases

iPTMnetiQ9Y619
PhosphoSitePlusiQ9Y619

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

BgeeiENSG00000102743 Expressed in 100 organ(s), highest expression level in right lobe of liver
CleanExiHS_SLC25A15
ExpressionAtlasiQ9Y619 baseline and differential
GenevisibleiQ9Y619 HS

Organism-specific databases

HPAiHPA042146

Interactioni

Protein-protein interaction databases

BioGridi115468, 19 interactors
STRINGi9606.ENSP00000342267

Structurei

3D structure databases

ProteinModelPortaliQ9Y619
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati7 – 91Solcar 1Add BLAST85
Repeati104 – 197Solcar 2Add BLAST94
Repeati207 – 293Solcar 3Add BLAST87

Sequence similaritiesi

Belongs to the mitochondrial carrier (TC 2.A.29) family. [View classification]Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0763 Eukaryota
ENOG410XNVH LUCA
GeneTreeiENSGT00730000110966
HOGENOMiHOG000168307
HOVERGENiHBG062630
InParanoidiQ9Y619
KOiK15101
OMAiRGFWHGQ
OrthoDBiEOG091G0HVE
PhylomeDBiQ9Y619
TreeFamiTF314880

Family and domain databases

Gene3Di1.50.40.10, 1 hit
InterProiView protein in InterPro
IPR040062 Mitochondrial_carrier_protein
IPR018108 Mitochondrial_sb/sol_carrier
IPR023395 Mt_carrier_dom_sf
PANTHERiPTHR24089 PTHR24089, 1 hit
PfamiView protein in Pfam
PF00153 Mito_carr, 3 hits
SUPFAMiSSF103506 SSF103506, 1 hit
PROSITEiView protein in PROSITE
PS50920 SOLCAR, 3 hits

Sequence (1+)i

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
« Hide
        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
Length:301
Mass (Da):32,736
Last modified:November 1, 1999 - v1
Checksum:i34436A15B105DC53
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5VZD9Q5VZD9_HUMAN
Mitochondrial ornithine transporter...
SLC25A15
133Annotation score:
F2Z354F2Z354_HUMAN
Mitochondrial ornithine transporter...
SLC25A15
57Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01275727G → E in HHH syndrome. 1 PublicationCorresponds to variant dbSNP:rs1208994024Ensembl.1
Natural variantiVAR_01275827G → R in HHH syndrome; incapable of catalyzing homo-exchanges of ornithine, arginine, lysine and citrulline. 4 PublicationsCorresponds to variant dbSNP:rs104894430EnsemblClinVar.1
Natural variantiVAR_05894837M → R in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 PublicationCorresponds to variant dbSNP:rs121908533EnsemblClinVar.1
Natural variantiVAR_05894970A → L in HHH syndrome; requires 2 nucleotide substitutions; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1064793683Ensembl.1
Natural variantiVAR_05895071L → Q in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 PublicationCorresponds to variant dbSNP:rs121908534EnsemblClinVar.1
Natural variantiVAR_058951113G → C in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 2 PublicationsCorresponds to variant dbSNP:rs199894905EnsemblClinVar.1
Natural variantiVAR_012759126P → R in HHH syndrome. 1 Publication1
Natural variantiVAR_012760180E → K in HHH syndrome. 1 PublicationCorresponds to variant dbSNP:rs104894424EnsemblClinVar.1
Natural variantiVAR_058952188F → L in HHH syndrome. 1 PublicationCorresponds to variant dbSNP:rs141028076EnsemblClinVar.1
Natural variantiVAR_012761188Missing in HHH syndrome; maintains a residual transport activity of 10%. 4 Publications1
Natural variantiVAR_012762190G → D in HHH syndrome; maintains a residual transport activity of 35%. 3 PublicationsCorresponds to variant dbSNP:rs202247804EnsemblClinVar.1
Natural variantiVAR_058953216G → S in HHH syndrome. 1 PublicationCorresponds to variant dbSNP:rs1417167600Ensembl.1
Natural variantiVAR_012763254I → L. Corresponds to variant dbSNP:rs17849654EnsemblClinVar.1
Natural variantiVAR_058954272T → I in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 PublicationCorresponds to variant dbSNP:rs121908535EnsemblClinVar.1
Natural variantiVAR_058955273M → K in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 2 PublicationsCorresponds to variant dbSNP:rs202247808EnsemblClinVar.1
Natural variantiVAR_012764275R → Q in HHH syndrome. 3 PublicationsCorresponds to variant dbSNP:rs104894431EnsemblClinVar.1
Natural variantiVAR_058956283L → F in HHH syndrome; 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
CCDSiCCDS9373.1
RefSeqiNP_055067.1, NM_014252.3
UniGeneiHs.646645

Genome annotation databases

EnsembliENST00000338625; ENSP00000342267; ENSG00000102743
GeneIDi10166
KEGGihsa:10166
UCSCiuc001uxn.4 human

Keywords - Coding sequence diversityi

Polymorphism

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
CCDSiCCDS9373.1
RefSeqiNP_055067.1, NM_014252.3
UniGeneiHs.646645

3D structure databases

ProteinModelPortaliQ9Y619
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115468, 19 interactors
STRINGi9606.ENSP00000342267

Chemistry databases

DrugBankiDB00129 L-Ornithine

Protein family/group databases

TCDBi2.A.29.19.2 the mitochondrial carrier (mc) family

PTM databases

iPTMnetiQ9Y619
PhosphoSitePlusiQ9Y619

Polymorphism and mutation databases

BioMutaiSLC25A15
DMDMi20139303

Proteomic databases

EPDiQ9Y619
MaxQBiQ9Y619
PaxDbiQ9Y619
PeptideAtlasiQ9Y619
PRIDEiQ9Y619
ProteomicsDBi86587

Protocols and materials databases

DNASUi10166
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000338625; ENSP00000342267; ENSG00000102743
GeneIDi10166
KEGGihsa:10166
UCSCiuc001uxn.4 human

Organism-specific databases

CTDi10166
DisGeNETi10166
EuPathDBiHostDB:ENSG00000102743.14
GeneCardsiSLC25A15
GeneReviewsiSLC25A15
H-InvDBiHIX0011260
HGNCiHGNC:10985 SLC25A15
HPAiHPA042146
MalaCardsiSLC25A15
MIMi238970 phenotype
603861 gene
neXtProtiNX_Q9Y619
OpenTargetsiENSG00000102743
Orphaneti415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
PharmGKBiPA35861
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0763 Eukaryota
ENOG410XNVH LUCA
GeneTreeiENSGT00730000110966
HOGENOMiHOG000168307
HOVERGENiHBG062630
InParanoidiQ9Y619
KOiK15101
OMAiRGFWHGQ
OrthoDBiEOG091G0HVE
PhylomeDBiQ9Y619
TreeFamiTF314880

Enzyme and pathway databases

ReactomeiR-HSA-70635 Urea cycle
SABIO-RKiQ9Y619

Miscellaneous databases

ChiTaRSiSLC25A15 human
GenomeRNAii10166
PROiPR:Q9Y619
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000102743 Expressed in 100 organ(s), highest expression level in right lobe of liver
CleanExiHS_SLC25A15
ExpressionAtlasiQ9Y619 baseline and differential
GenevisibleiQ9Y619 HS

Family and domain databases

Gene3Di1.50.40.10, 1 hit
InterProiView protein in InterPro
IPR040062 Mitochondrial_carrier_protein
IPR018108 Mitochondrial_sb/sol_carrier
IPR023395 Mt_carrier_dom_sf
PANTHERiPTHR24089 PTHR24089, 1 hit
PfamiView protein in Pfam
PF00153 Mito_carr, 3 hits
SUPFAMiSSF103506 SSF103506, 1 hit
PROSITEiView protein in PROSITE
PS50920 SOLCAR, 3 hits
ProtoNetiSearch...

Entry informationi

Entry nameiORNT1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y619
Secondary accession number(s): Q5VZD8, Q9HC45
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 11, 2002
Last sequence update: November 1, 1999
Last modified: November 7, 2018
This is version 162 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
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