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Q9Y619 (ORNT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 125. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Mitochondrial ornithine transporter 1
Alternative name(s):
Solute carrier family 25 member 15
Gene names
Name:SLC25A15
Synonyms:ORNT1
ORF Names:SP1855
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length301 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Mitochondrion inner membrane; Multi-pass membrane protein.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Sequence similarities

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

Contains 3 Solcar repeats.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 301301Mitochondrial ornithine transporter 1
PRO_0000090650

Regions

Transmembrane5 – 2521Helical; Name=1; Potential
Transmembrane68 – 8821Helical; Name=2; Potential
Transmembrane110 – 13021Helical; Name=3; Potential
Transmembrane168 – 18821Helical; Name=4; Potential
Transmembrane207 – 22721Helical; Name=5; Potential
Transmembrane237 – 25721Helical; Name=6; Potential
Repeat7 – 9185Solcar 1
Repeat104 – 19794Solcar 2
Repeat207 – 29387Solcar 3

Natural variations

Natural variant271G → E in HHH syndrome. Ref.7
VAR_012757
Natural variant271G → R in HHH syndrome; incapable of catalyzing homo-exchanges of ornithine, arginine, lysine and citrulline. Ref.2 Ref.8 Ref.9 Ref.12
VAR_012758
Natural variant371M → R in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. Ref.12
VAR_058948
Natural variant701A → L in HHH syndrome; requires 2 nucleotide substitutions; unknown pathological significance. Ref.12
VAR_058949
Natural variant711L → Q in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. Ref.12
VAR_058950
Natural variant1131G → C in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. Ref.11 Ref.12
VAR_058951
Natural variant1261P → R in HHH syndrome. Ref.10
VAR_012759
Natural variant1801E → K in HHH syndrome. Ref.1
VAR_012760
Natural variant1881F → L in HHH syndrome; maintains a residual transport activity of 10%. Ref.12
VAR_058952
Natural variant1881Missing in HHH syndrome. Ref.1 Ref.2 Ref.8 Ref.9
VAR_012761
Natural variant1901G → D in HHH syndrome; maintains a residual transport activity of 35%. Ref.2 Ref.8 Ref.9
VAR_012762
Natural variant2161G → S in HHH syndrome. Ref.12
VAR_058953
Natural variant2541I → L.
Corresponds to variant rs17849654 [ dbSNP | Ensembl ].
VAR_012763
Natural variant2721T → I in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. Ref.12
VAR_058954
Natural variant2731M → K in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. Ref.11 Ref.12
VAR_058955
Natural variant2751R → Q in HHH syndrome. Ref.2 Ref.8 Ref.9
VAR_012764
Natural variant2831L → F in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. Ref.12
VAR_058956

Sequences

Sequence LengthMass (Da)Tools
Q9Y619 [UniParc].

Last modified November 1, 1999. Version 1.
Checksum: 34436A15B105DC53

FASTA30132,736
        10         20         30         40         50         60 
MKSNPAIQAA IDLTAGAAGG TACVLTGQPF DTMKVKMQTF PDLYRGLTDC CLKTYSQVGF 

        70         80         90        100        110        120 
RGFYKGTSPA LIANIAENSV LFMCYGFCQQ VVRKVAGLDK QAKLSDLQNA AAGSFASAFA 

       130        140        150        160        170        180 
ALVLCPTELV KCRLQTMYEM ETSGKIAKSQ NTVWSVIKSI LRKDGPLGFY HGLSSTLLRE 

       190        200        210        220        230        240 
VPGYFFFFGG YELSRSFFAS GRSKDELGPV PLMLSGGVGG ICLWLAVYPV DCIKSRIQVL 

       250        260        270        280        290        300 
SMSGKQAGFI RTFINVVKNE GITALYSGLK PTMIRAFPAN GALFLAYEYS RKLMMNQLEA 


Y 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study."
Tessa A., Fiermonte G., Dionisi-Vici C., Paradies E., Baumgartner M.R., Chien Y.-H., Loguercio C., de Baulny H.O., Nassogne M.-C., Schiff M., Deodato F., Parenti G., Rutledge S.L., Vilaseca M.A., Melone M.A.B., Scarano G., Aldamiz-Echevarria L., Besley G. expand/collapse author list , Walter J., Martinez-Hernandez E., Hernandez J.M., Pierri C.L., Palmieri F., Santorelli F.M.
Hum. Mutat. 30:741-748(2009) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_055067.1. NM_014252.3.
UniGeneHs.646645.

3D structure databases

ProteinModelPortalQ9Y619.
SMRQ9Y619. Positions 17-295.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115468. 2 interactions.
STRING9606.ENSP00000342267.

Chemistry

DrugBankDB00129. L-Ornithine.

Protein family/group databases

TCDB2.A.29.19.2. the mitochondrial carrier (mc) family.

PTM databases

PhosphoSiteQ9Y619.

Polymorphism databases

DMDM20139303.

Proteomic databases

PaxDbQ9Y619.
PRIDEQ9Y619.

Protocols and materials databases

DNASU10166.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000338625; ENSP00000342267; ENSG00000102743.
GeneID10166.
KEGGhsa:10166.
UCSCuc001uxn.3. human.

Organism-specific databases

CTD10166.
GeneCardsGC13P041363.
H-InvDBHIX0011260.
HGNCHGNC:10985. SLC25A15.
HPAHPA042146.
MIM238970. phenotype.
603861. gene.
neXtProtNX_Q9Y619.
Orphanet415. Hyperornithinemia-hyperammonemia-homocitrullinuria.
PharmGKBPA35861.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG245037.
HOGENOMHOG000168307.
HOVERGENHBG062630.
InParanoidQ9Y619.
KOK15101.
OMASRKLMMN.
OrthoDBEOG7XWPPB.
PhylomeDBQ9Y619.
TreeFamTF314880.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
SABIO-RKQ9Y619.

Gene expression databases

ArrayExpressQ9Y619.
BgeeQ9Y619.
CleanExHS_SLC25A15.
GenevestigatorQ9Y619.

Family and domain databases

Gene3D1.50.40.10. 1 hit.
InterProIPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view]
PfamPF00153. Mito_carr. 3 hits.
[Graphical view]
SUPFAMSSF103506. SSF103506. 1 hit.
PROSITEPS50920. SOLCAR. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSLC25A15. human.
GenomeRNAi10166.
NextBio38490.
PROQ9Y619.
SOURCESearch...

Entry information

Entry nameORNT1_HUMAN
AccessionPrimary (citable) accession number: Q9Y619
Secondary accession number(s): Q5VZD8, Q9HC45
Entry history
Integrated into UniProtKB/Swiss-Prot: February 11, 2002
Last sequence update: November 1, 1999
Last modified: April 16, 2014
This is version 125 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM