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MGP005713

UniProt Annotations

Entry Information
Gene NameELOVL fatty acid elongase 5
Protein EntryELOV5_HUMAN
UniProt IDQ9NYP7
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9NYP7-1; Sequence=Displayed; Name=2; IsoId=Q9NYP7-2; Sequence=VSP_045918; Note=No experimental confirmation available.; Name=3; IsoId=Q9NYP7-3; Sequence=VSP_045917, VSP_045919; Note=No experimental confirmation available.;
Catalytic ActivityA very-long-chain acyl-CoA + malonyl-CoA = CoA + a very-long-chain 3-oxoacyl-CoA + CO(2).
DiseaseSpinocerebellar ataxia 38 (SCA38) [MIM:615957]: 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. {ECO:0000269|PubMed:25065913}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCondensing enzyme that catalyzes the synthesis of monounsaturated and of polyunsaturated very long chain fatty acids. Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA. {ECO:0000269|PubMed:10970790, ECO:0000269|PubMed:20937905}.
PathwayLipid metabolism; polyunsaturated fatty acid biosynthesis.
Sequence CautionSequence=AAF16688.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC11178.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the ELO family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000269|PubMed:20937905}; Multi-pass membrane protein. Cytoplasm. Cell projection. Cell projection, dendrite {ECO:0000269|PubMed:20937905, ECO:0000269|PubMed:25065913}. Note=In Purkinje cells, the protein localizes to the soma and proximal portion of the dendritic tree. {ECO:0000269|PubMed:25065913}.
Tissue SpecificityUbiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung and brain. Expressed in the cerebellum. {ECO:0000269|PubMed:10970790, ECO:0000269|PubMed:20937905, ECO:0000269|PubMed:25065913}.
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