Entity Details

Primary name ELOV1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9BW60
EntryNameELOV1_HUMAN
FullNameElongation of very long chain fatty acids protein 1
TaxID9606
Evidenceevidence at protein level
Length279
SequenceStatuscomplete
DateCreated2002-01-23
DateModified2021-06-02

Ontological Relatives

GenesELOVL1

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: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:0043651 linoleic acid metabolic process
GO:0046513 ceramide biosynthetic process
GO:0061436 establishment of skin barrier
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
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR002076 ELO familyFamilyFamily
IPR030457 ELO family, conserved siteSiteConserved site
IPR033681 Elongation of very long chain fatty acids protein 1FamilyFamily

Diseases

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Disease IDSourceNameDescription
618527 OMIMIchthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies (IKSHD)An autosomal dominant disease characterized by ichthyosis due to epidermal hyperproliferation and increased keratinisation, hypomyelination of the central white matter, spastic paraplegia, central nystagmus, optic atrophy, reduction of peripheral vision and visual acuity, and dysmorphic facial features. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions