ELOVL5
entrez
60481
canonical
uniprot
Q9NYP7
canonical
ensembl
ENSG00000012660
resolver
ensp
ENSP00000306640
resolver
ensp
ENSP00000359951
resolver
ensp
ENSP00000359956
resolver
ensp
ENSP00000440728
resolver
ensp
ENSP00000563770
resolver
enst
ENST00000542638
resolver
genesymbol
ELOVL5
resolver
genesymbol_syn
ELOVL2
resolver
hgnc
HGNC:21308
resolver
uniprot
A0A0A0MTI6
resolver
uniprot
B3KWH9
resolver
uniprot
B4DZJ2
resolver
uniprot
F6SH78
resolver
uniprot
Q59EL3
resolver
uniprot
Q5TGH5
resolver
uniprot
Q6NXE7
resolver
uniprot
Q7L2S5
resolver
uniprot
Q8NCG4
resolver
uniprot
Q9UI22
resolver
uniprot_entry
A0A0A0MTI6_HUMAN
resolver
uniprot_entry
B3KWH9_HUMAN
resolver
uniprot_entry
ELOV5_HUMAN
resolver
uniprot_sec
B4DZJ2
resolver
uniprot_sec
F6SH78
resolver
uniprot_sec
Q59EL3
resolver
uniprot_sec
Q5TGH5
resolver
uniprot_sec
Q6NXE7
resolver
uniprot_sec
Q7L2S5
resolver
uniprot_sec
Q8NCG4
resolver
uniprot_sec
Q9UI22
resolver
amino_acid_sequence
MEHFDASLSTYFKALLGPRDTRVKGWFLLDNYIPTFICSVIYLLIVWLGPKYMRNKQPFSCRGILVVYNLGLTLLSLYMFCELVTGVWEGKYNFFCQGTRTAGESDMKIIRVLWWYYFSKLIEFMDTFFFILRKNNHQITVLHVYHHASMLNIWWFVMNWVPCGHSYFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQLLQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTNFYIQTYNKKGASRRKDHLKDHQNGSMAAVNGHTNSFSPLENNVKPRKLRKD
uniprot
proteins
disease_involvement
DISEASE: Spinocerebellar 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 variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.199
uniprot
proteins
function
FUNCTION: Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA. May participate in the production of monounsaturated and of polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators (By similarity) (PubMed:10970790, PubMed:20937905). In conditions where the essential linoleic and alpha linoleic fatty acids are lacking it is also involved in the synthesis of Mead acid from oleic acid (By similarity). {ECO:0000250|UniProtKB:Q8BHI7, ECO:0000255|HAMAP-Rule:MF_03205, ECO:0000269|PubMed:10970790, ECO:0000269|PubMed:20937905}.
uniprot
proteins
mass_dalton
35293
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; polyunsaturated fatty acid biosynthesis. {ECO:0000255|HAMAP-Rule:MF_03205, ECO:0000269|PubMed:20937905}.
uniprot
proteins
protein_family
ELO family
uniprot
proteins
protein_family
ELOVL5 subfamily
uniprot
proteins
pubmed
10970790
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19575253
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20937905
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25065913
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
38422897
uniprot
proteins
sequence_length
299
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000255|HAMAP-Rule:MF_03205, ECO:0000269|PubMed:20937905}; Multi-pass membrane protein {ECO:0000255|HAMAP-Rule:MF_03205}. Cell projection, dendrite {ECO:0000255|HAMAP-Rule:MF_03205, ECO:0000269|PubMed:25065913}. Note=In Purkinje cells, the protein localizes to the soma and proximal portion of the dendritic tree. {ECO:0000255|HAMAP-Rule:MF_03205, ECO:0000269|PubMed:25065913}.
uniprot
proteins
transmembrane_region
TRANSMEM 26..46; /note="Helical"; /evidence="ECO:0000255|HAMAP-Rule:MF_03205"; TRANSMEM 64..84; /note="Helical"; /evidence="ECO:0000255|HAMAP-Rule:MF_03205"; TRANSMEM 112..132; /note="Helical"; /evidence="ECO:0000255|HAMAP-Rule:MF_03205"; TRANSMEM 139..158; /note="Helical"; /evidence="ECO:0000255|HAMAP-Rule:MF_03205"; TRANSMEM 168..187; /note="Helical"; /evidence="ECO:0000255|HAMAP-Rule:MF_03205"; TRANSMEM 205..225; /note="Helical"; /evidence="ECO:0000255|HAMAP-Rule:MF_03205"; TRANSMEM 226..246; /note="Helical"; /evidence="ECO:0000255|HAMAP-Rule:MF_03205
uniprot
proteins