Entity Details

Primary name ARV1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H2C2
EntryNameARV1_HUMAN
FullNameProtein ARV1
TaxID9606
Evidenceevidence at protein level
Length271
SequenceStatuscomplete
DateCreated2006-03-21
DateModified2021-06-02

Ontological Relatives

GenesARV1

GO terms

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GOName
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0006665 sphingolipid metabolic process
GO:0006695 cholesterol biosynthetic process
GO:0016021 integral component of membrane
GO:0016125 sterol metabolic process
GO:0032366 intracellular sterol transport
GO:0032383 regulation of intracellular cholesterol transport
GO:0032541 cortical endoplasmic reticulum
GO:0090181 regulation of cholesterol metabolic process
GO:0097036 regulation of plasma membrane sterol distribution

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR007290 Arv1 proteinFamilyFamily

Diseases

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Disease IDSourceNameDescription
617020 OMIMDevelopmental and epileptic encephalopathy 38 (DEE38)A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE38 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.