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Protein

Mitochondrial ornithine transporter 1

Gene

SLC25A15

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix.

GO - Molecular functioni

GO - Biological processi

  • mitochondrial ornithine transport Source: ProtInc
  • mitochondrial transport Source: GO_Central
  • urea cycle Source: Reactome

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:ORNT1
ORF Names:SP1855
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000102743.14.
HGNCiHGNC:10985. SLC25A15.

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 Publication1
Natural variantiVAR_01275827G → R in HHH syndrome; incapable of catalyzing homo-exchanges of ornithine, arginine, lysine and citrulline. 4 PublicationsCorresponds to variant dbSNP:rs104894430Ensembl.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:rs121908533Ensembl.1
Natural variantiVAR_05894970A → L in HHH syndrome; requires 2 nucleotide substitutions; unknown pathological significance. 1 Publication1
Natural variantiVAR_05895071L → Q in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 PublicationCorresponds to variant dbSNP:rs121908534Ensembl.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:rs199894905Ensembl.1
Natural variantiVAR_012759126P → R in HHH syndrome. 1 Publication1
Natural variantiVAR_012760180E → K in HHH syndrome. 1 PublicationCorresponds to variant dbSNP:rs104894424Ensembl.1
Natural variantiVAR_058952188F → L in HHH syndrome. 1 PublicationCorresponds to variant dbSNP:rs141028076Ensembl.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:rs202247804Ensembl.1
Natural variantiVAR_058953216G → S in HHH syndrome. 1 Publication1
Natural variantiVAR_058954272T → I in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 PublicationCorresponds to variant dbSNP:rs121908535Ensembl.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:rs202247808Ensembl.1
Natural variantiVAR_012764275R → Q in HHH syndrome. 3 PublicationsCorresponds to variant dbSNP:rs104894431Ensembl.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:rs202247809Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi10166.
GeneReviewsiSLC25A15.
MalaCardsiSLC25A15.
MIMi238970. phenotype.
OpenTargetsiENSG00000102743.
Orphaneti415. Hyperornithinemia-hyperammonemia-homocitrullinuria.
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.

PTM databases

iPTMnetiQ9Y619.
PhosphoSitePlusiQ9Y619.

Expressioni

Gene expression databases

BgeeiENSG00000102743.
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

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

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

Sequencei

Sequence statusi: Complete.

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01275727G → E in HHH syndrome. 1 Publication1
Natural variantiVAR_01275827G → R in HHH syndrome; incapable of catalyzing homo-exchanges of ornithine, arginine, lysine and citrulline. 4 PublicationsCorresponds to variant dbSNP:rs104894430Ensembl.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:rs121908533Ensembl.1
Natural variantiVAR_05894970A → L in HHH syndrome; requires 2 nucleotide substitutions; unknown pathological significance. 1 Publication1
Natural variantiVAR_05895071L → Q in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 PublicationCorresponds to variant dbSNP:rs121908534Ensembl.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:rs199894905Ensembl.1
Natural variantiVAR_012759126P → R in HHH syndrome. 1 Publication1
Natural variantiVAR_012760180E → K in HHH syndrome. 1 PublicationCorresponds to variant dbSNP:rs104894424Ensembl.1
Natural variantiVAR_058952188F → L in HHH syndrome. 1 PublicationCorresponds to variant dbSNP:rs141028076Ensembl.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:rs202247804Ensembl.1
Natural variantiVAR_058953216G → S in HHH syndrome. 1 Publication1
Natural variantiVAR_012763254I → L. Corresponds to variant dbSNP:rs17849654Ensembl.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:rs121908535Ensembl.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:rs202247808Ensembl.1
Natural variantiVAR_012764275R → Q in HHH syndrome. 3 PublicationsCorresponds to variant dbSNP:rs104894431Ensembl.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:rs202247809Ensembl.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

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 22, 2017
This is version 156 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. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families