Entity Details

Primary name ORNT1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9Y619
EntryNameORNT1_HUMAN
FullNameMitochondrial ornithine transporter 1
TaxID9606
Evidenceevidence at protein level
Length301
SequenceStatuscomplete
DateCreated2002-02-11
DateModified2021-06-02

Ontological Relatives

GenesSLC25A15

GO terms

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GOName
GO:0000050 urea cycle
GO:0000064 L-ornithine transmembrane transporter activity
GO:0005743 mitochondrial inner membrane
GO:0016021 integral component of membrane
GO:1990575 mitochondrial L-ornithine transmembrane transport

Subcellular Location

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Subcellular Location
Mitochondrion inner membrane

Domains

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DomainNameCategoryType
IPR018108 Mitochondrial substrate/solute carrierRepeatRepeat
IPR023395 Mitochondrial carrier domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
238970 OMIMHyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS)An 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. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00129 OrnithineDrugbanksmall molecule

Interactions

0 interactions

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