ELOVL5 (ELOVL fatty acid elongase 5)

2017-11-01  

Identity

HGNC
LOCATION
6p12.1
LOCUSID
ALIAS
HELO1,SCA38,dJ483K16.1
FUSION GENES

Other Information

Locus ID:

NCBI: 60481
MIM: 611805
HGNC: 21308
Ensembl: ENSG00000012660

Variants:

dbSNP: 60481
ClinVar: 60481
TCGA: ENSG00000012660
COSMIC: ELOVL5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000012660ENST00000304434Q9NYP7
ENSG00000012660ENST00000304434A0A024RD35
ENSG00000012660ENST00000370913Q9NYP7
ENSG00000012660ENST00000370918Q9NYP7
ENSG00000012660ENST00000542638A0A0A0MTI6

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Fatty acid elongationKEGGko00062
Biosynthesis of unsaturated fatty acidsKEGGko01040
Fatty acid elongationKEGGhsa00062
Biosynthesis of unsaturated fatty acidsKEGGhsa01040
Fatty acid biosynthesis, elongation, endoplasmic reticulumKEGGhsa_M00415
Fatty acid biosynthesis, elongation, endoplasmic reticulumKEGGM00415
Fatty acid metabolismKEGGhsa01212
Fatty acid metabolismKEGGko01212
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Triglyceride BiosynthesisREACTOMER-HSA-75109
Fatty Acyl-CoA BiosynthesisREACTOMER-HSA-75105
Synthesis of very long-chain fatty acyl-CoAsREACTOMER-HSA-75876
alpha-linolenic (omega3) and linoleic (omega6) acid metabolismREACTOMER-HSA-2046104
alpha-linolenic acid (ALA) metabolismREACTOMER-HSA-2046106
Linoleic acid (LA) metabolismREACTOMER-HSA-2046105

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
203635062010Genome-wide association study of normal tension glaucoma: common variants in SRBD1 and ELOVL5 contribute to disease susceptibility.47
203635062010Genome-wide association study of normal tension glaucoma: common variants in SRBD1 and ELOVL5 contribute to disease susceptibility.47
213838462011Genetic variants of the FADS gene cluster and ELOVL gene family, colostrums LC-PUFA levels, breastfeeding, and child cognition.31
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26
250659132014ELOVL5 mutations cause spinocerebellar ataxia 38.21
215081102011Association between SRBD1 and ELOVL5 gene polymorphisms and primary open-angle glaucoma.19
230994442013Elovl5 regulates the mTORC2-Akt-FOXO1 pathway by controlling hepatic cis-vaccenic acid synthesis in diet-induced obese mice.18
263216642015Identification of human ELOVL5 enhancer regions controlled by SREBP.6
241676122013Gene expression of desaturase (FADS1 and FADS2) and Elongase (ELOVL5) enzymes in peripheral blood: association with polyunsaturated fatty acid levels and atopic eczema in 4-year-old children.5

Citation

Dessen P

ELOVL5 (ELOVL fatty acid elongase 5)

Atlas Genet Cytogenet Oncol Haematol. 2017-11-01

Online version: http://atlasgeneticsoncology.org/gene/57253/elovl5