Entity Details

Primary name ELOV5_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9NYP7
EntryNameELOV5_HUMAN
FullNameElongation of very long chain fatty acids protein 5
TaxID9606
Evidenceevidence at protein level
Length299
SequenceStatuscomplete
DateCreated2007-04-03
DateModified2021-06-02

Ontological Relatives

GenesELOVL5

GO terms

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GOName
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0006636 unsaturated fatty acid biosynthetic process
GO:0009922 fatty acid elongase activity
GO:0016020 membrane
GO:0019367 fatty acid elongation, saturated fatty acid
GO:0030148 sphingolipid biosynthetic process
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0030425 dendrite
GO:0034625 fatty acid elongation, monounsaturated fatty acid
GO:0034626 fatty acid elongation, polyunsaturated fatty acid
GO:0035338 long-chain fatty-acyl-CoA biosynthetic process
GO:0036109 alpha-linolenic acid metabolic process
GO:0042761 very long-chain fatty acid biosynthetic process
GO:0043025 neuronal cell body
GO:0043651 linoleic acid metabolic process
GO:0045723 positive regulation of fatty acid biosynthetic process
GO:0097447 dendritic tree
GO:0102336 3-oxo-arachidoyl-CoA synthase activity
GO:0102337 3-oxo-cerotoyl-CoA synthase activity
GO:0102338 3-oxo-lignoceronyl-CoA synthase activity
GO:0102756 very-long-chain 3-ketoacyl-CoA synthase activity

Subcellular Location

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Subcellular Location
Cell projection
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR002076 ELO familyFamilyFamily
IPR033677 Elongation of very long chain fatty acids protein 5FamilyFamily

Diseases

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Disease IDSourceNameDescription
615957 OMIMSpinocerebellar ataxia 38 (SCA38)A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA38 is an autosomal dominant form characterized by adult-onset of slowly progressive gait ataxia accompanied by nystagmus. Brain MRI shows cerebellar atrophy. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00132 alpha-Linolenic acidDrugbanksmall molecule
DB11358 Evening primrose oilSwissprotbiotech