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Q9Y619

- ORNT1_HUMAN

UniProt

Q9Y619 - ORNT1_HUMAN

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Protein

Mitochondrial ornithine transporter 1

Gene

SLC25A15

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. L-ornithine transmembrane transporter activity Source: ProtInc

GO - Biological processi

  1. cellular amino acid metabolic process Source: ProtInc
  2. cellular nitrogen compound metabolic process Source: Reactome
  3. L-ornithine transmembrane transport Source: GOC
  4. mitochondrial ornithine transport Source: ProtInc
  5. small molecule metabolic process Source: Reactome
  6. urea cycle Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Transport

Enzyme and pathway databases

ReactomeiREACT_847. Urea cycle.

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
ProteomesiUP000005640: Chromosome 13

Organism-specific databases

HGNCiHGNC:10985. SLC25A15.

Subcellular locationi

GO - Cellular componenti

  1. integral component of membrane Source: ProtInc
  2. mitochondrial inner membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]: Autosomal 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.7 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti27 – 271G → E in HHH syndrome. 1 Publication
VAR_012757
Natural varianti27 – 271G → R in HHH syndrome; incapable of catalyzing homo-exchanges of ornithine, arginine, lysine and citrulline. 3 Publications
VAR_012758
Natural varianti37 – 371M → R in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 Publication
VAR_058948
Natural varianti70 – 701A → L in HHH syndrome; requires 2 nucleotide substitutions; unknown pathological significance. 1 Publication
VAR_058949
Natural varianti71 – 711L → Q in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 Publication
VAR_058950
Natural varianti113 – 1131G → C in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 Publication
VAR_058951
Natural varianti126 – 1261P → R in HHH syndrome. 1 Publication
VAR_012759
Natural varianti180 – 1801E → K in HHH syndrome. 1 Publication
VAR_012760
Natural varianti188 – 1881F → L in HHH syndrome; maintains a residual transport activity of 10%. 1 Publication
VAR_058952
Natural varianti188 – 1881Missing in HHH syndrome. 3 Publications
VAR_012761
Natural varianti190 – 1901G → D in HHH syndrome; maintains a residual transport activity of 35%. 2 Publications
VAR_012762
Natural varianti216 – 2161G → S in HHH syndrome. 1 Publication
VAR_058953
Natural varianti272 – 2721T → I in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 Publication
VAR_058954
Natural varianti273 – 2731M → K in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 Publication
VAR_058955
Natural varianti275 – 2751R → Q in HHH syndrome. 2 Publications
VAR_012764
Natural varianti283 – 2831L → F in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 Publication
VAR_058956

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi238970. phenotype.
Orphaneti415. Hyperornithinemia-hyperammonemia-homocitrullinuria.
PharmGKBiPA35861.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 301301Mitochondrial ornithine transporter 1PRO_0000090650Add
BLAST

Proteomic databases

MaxQBiQ9Y619.
PaxDbiQ9Y619.
PRIDEiQ9Y619.

PTM databases

PhosphoSiteiQ9Y619.

Expressioni

Gene expression databases

BgeeiQ9Y619.
CleanExiHS_SLC25A15.
ExpressionAtlasiQ9Y619. baseline and differential.
GenevestigatoriQ9Y619.

Organism-specific databases

HPAiHPA042146.

Interactioni

Protein-protein interaction databases

BioGridi115468. 8 interactions.
STRINGi9606.ENSP00000342267.

Structurei

3D structure databases

ProteinModelPortaliQ9Y619.
SMRiQ9Y619. Positions 17-295.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei5 – 2521Helical; Name=1Sequence AnalysisAdd
BLAST
Transmembranei68 – 8821Helical; Name=2Sequence AnalysisAdd
BLAST
Transmembranei110 – 13021Helical; Name=3Sequence AnalysisAdd
BLAST
Transmembranei168 – 18821Helical; Name=4Sequence AnalysisAdd
BLAST
Transmembranei207 – 22721Helical; Name=5Sequence AnalysisAdd
BLAST
Transmembranei237 – 25721Helical; Name=6Sequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati7 – 9185Solcar 1Add
BLAST
Repeati104 – 19794Solcar 2Add
BLAST
Repeati207 – 29387Solcar 3Add
BLAST

Sequence similaritiesi

Contains 3 Solcar repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG245037.
GeneTreeiENSGT00730000110966.
HOGENOMiHOG000168307.
HOVERGENiHBG062630.
InParanoidiQ9Y619.
KOiK15101.
OMAiSRKLMMN.
OrthoDBiEOG7XWPPB.
PhylomeDBiQ9Y619.
TreeFamiTF314880.

Family and domain databases

Gene3Di1.50.40.10. 1 hit.
InterProiIPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view]
PfamiPF00153. Mito_carr. 3 hits.
[Graphical view]
SUPFAMiSSF103506. SSF103506. 1 hit.
PROSITEiPS50920. SOLCAR. 3 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9Y619 [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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti27 – 271G → E in HHH syndrome. 1 Publication
VAR_012757
Natural varianti27 – 271G → R in HHH syndrome; incapable of catalyzing homo-exchanges of ornithine, arginine, lysine and citrulline. 3 Publications
VAR_012758
Natural varianti37 – 371M → R in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 Publication
VAR_058948
Natural varianti70 – 701A → L in HHH syndrome; requires 2 nucleotide substitutions; unknown pathological significance. 1 Publication
VAR_058949
Natural varianti71 – 711L → Q in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 Publication
VAR_058950
Natural varianti113 – 1131G → C in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 Publication
VAR_058951
Natural varianti126 – 1261P → R in HHH syndrome. 1 Publication
VAR_012759
Natural varianti180 – 1801E → K in HHH syndrome. 1 Publication
VAR_012760
Natural varianti188 – 1881F → L in HHH syndrome; maintains a residual transport activity of 10%. 1 Publication
VAR_058952
Natural varianti188 – 1881Missing in HHH syndrome. 3 Publications
VAR_012761
Natural varianti190 – 1901G → D in HHH syndrome; maintains a residual transport activity of 35%. 2 Publications
VAR_012762
Natural varianti216 – 2161G → S in HHH syndrome. 1 Publication
VAR_058953
Natural varianti254 – 2541I → L.
Corresponds to variant rs17849654 [ dbSNP | Ensembl ].
VAR_012763
Natural varianti272 – 2721T → I in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 Publication
VAR_058954
Natural varianti273 – 2731M → K in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 Publication
VAR_058955
Natural varianti275 – 2751R → Q in HHH syndrome. 2 Publications
VAR_012764
Natural varianti283 – 2831L → F in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 Publication
VAR_058956

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF112968 mRNA. Translation: AAD45238.1.
AJ309943 Genomic DNA. Translation: CAC83972.1.
AF177333 mRNA. Translation: AAG17977.1.
AL161614 Genomic DNA. Translation: CAH72774.1.
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.3. human.

Polymorphism databases

DMDMi20139303.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF112968 mRNA. Translation: AAD45238.1 .
AJ309943 Genomic DNA. Translation: CAC83972.1 .
AF177333 mRNA. Translation: AAG17977.1 .
AL161614 Genomic DNA. Translation: CAH72774.1 .
CH471075 Genomic DNA. Translation: EAX08630.1 .
BC002702 mRNA. Translation: AAH02702.1 .
CCDSi CCDS9373.1.
RefSeqi NP_055067.1. NM_014252.3.
UniGenei Hs.646645.

3D structure databases

ProteinModelPortali Q9Y619.
SMRi Q9Y619. Positions 17-295.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115468. 8 interactions.
STRINGi 9606.ENSP00000342267.

Chemistry

DrugBanki DB00129. L-Ornithine.

Protein family/group databases

TCDBi 2.A.29.19.2. the mitochondrial carrier (mc) family.

PTM databases

PhosphoSitei Q9Y619.

Polymorphism databases

DMDMi 20139303.

Proteomic databases

MaxQBi Q9Y619.
PaxDbi Q9Y619.
PRIDEi Q9Y619.

Protocols and materials databases

DNASUi 10166.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000338625 ; ENSP00000342267 ; ENSG00000102743 .
GeneIDi 10166.
KEGGi hsa:10166.
UCSCi uc001uxn.3. human.

Organism-specific databases

CTDi 10166.
GeneCardsi GC13P041363.
GeneReviewsi SLC25A15.
H-InvDB HIX0011260.
HGNCi HGNC:10985. SLC25A15.
HPAi HPA042146.
MIMi 238970. phenotype.
603861. gene.
neXtProti NX_Q9Y619.
Orphaneti 415. Hyperornithinemia-hyperammonemia-homocitrullinuria.
PharmGKBi PA35861.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG245037.
GeneTreei ENSGT00730000110966.
HOGENOMi HOG000168307.
HOVERGENi HBG062630.
InParanoidi Q9Y619.
KOi K15101.
OMAi SRKLMMN.
OrthoDBi EOG7XWPPB.
PhylomeDBi Q9Y619.
TreeFami TF314880.

Enzyme and pathway databases

Reactomei REACT_847. Urea cycle.

Miscellaneous databases

ChiTaRSi SLC25A15. human.
GenomeRNAii 10166.
NextBioi 38490.
PROi Q9Y619.
SOURCEi Search...

Gene expression databases

Bgeei Q9Y619.
CleanExi HS_SLC25A15.
ExpressionAtlasi Q9Y619. baseline and differential.
Genevestigatori Q9Y619.

Family and domain databases

Gene3Di 1.50.40.10. 1 hit.
InterProi IPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view ]
Pfami PF00153. Mito_carr. 3 hits.
[Graphical view ]
SUPFAMi SSF103506. SSF103506. 1 hit.
PROSITEi PS50920. SOLCAR. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter."
    Camacho J.A., Obie C., Biery B., Goodman B.K., Hu A., Almashanu S., Steel G., Casey R., Lombard M., Mitchell G.A., Valle D.
    Nat. Genet. 22:151-158(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS HHH SYNDROME LYS-180 AND PHE-188 DEL.
  2. "The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms."
    Fiermonte G., Dolce V., David L., Santorelli F.M., Dionisi-Vici C., Palmieri F., Walker J.E.
    J. Biol. Chem. 278:32778-32783(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], CHARACTERIZATION OF VARIANTS HHH SYNDROME ARG-27; PHE-188 DEL; ASP-190 AND GLN-275.
  3. "Large-scale cDNA transfection screening for genes related to cancer development and progression."
    Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.
    , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
    Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. "The DNA sequence and analysis of human chromosome 13."
    Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
    Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Skin.
  7. "Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome."
    Tsujino S., Kanazawa N., Ohashi T., Eto Y., Saito T., Kira J., Yamada T.
    Ann. Neurol. 47:625-631(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HHH SYNDROME GLU-27.
  8. "Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome."
    Salvi S., Dionisi-Vici C., Bertini E., Verardo M., Santorelli F.M.
    Hum. Mutat. 18:460-460(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HHH SYNDROME ARG-27; PHE-188 DEL; ASP-190 AND GLN-275.
  9. "Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome."
    Salvi S., Santorelli F.M., Bertini E., Boldrini R., Meli C., Donati A., Burlina A.B., Rizzo C., Di Capua M., Fariello G., Dionisi-Vici C.
    Neurology 57:911-914(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HHH SYNDROME ARG-27; PHE-188 DEL; ASP-190 AND GLN-275.
  10. "A novel mutation, P126R, in a Japanese patient with HHH syndrome."
    Miyamoto T., Kanazawa N., Hayakawa C., Tsujino S.
    Pediatr. Neurol. 26:65-67(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HHH SYNDROME ARG-126.
  11. "HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation."
    Fecarotta S., Parenti G., Vajro P., Zuppaldi A., Della Casa R., Carbone M.T., Correra A., Torre G., Riva S., Dionisi-Vici C., Santorelli F.M., Andria G.
    J. Inherit. Metab. Dis. 29:186-189(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HHH SYNDROME CYS-113 AND LYS-273.
  12. Cited for: VARIANTS HHH SYNDROME ARG-27; ARG-37; LEU-70; GLN-71; LEU-188; SER-216; ILE-272 AND PHE-283, CHARACTERIZATION OF VARIANTS HHH SYNDROME ARG-37; GLN-71; CYS-113; ILE-272; LYS-273 AND PHE-283.

Entry informationi

Entry nameiORNT1_HUMAN
AccessioniPrimary (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: October 29, 2014
This is version 130 of the entry and version 1 of the sequence. [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

External Data

Dasty 3