ELOVL1 (ELOVL fatty acid elongase 1)

2014-08-01  

Identity

HGNC
LOCATION
1p34.2
LOCUSID
ALIAS
CGI-88,IKSHD,Ssc1
FUSION GENES

Other Information

Locus ID:

NCBI: 64834
MIM: 611813
HGNC: 14418
Ensembl: ENSG00000066322

Variants:

dbSNP: 64834
ClinVar: 64834
TCGA: ENSG00000066322
COSMIC: ELOVL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000066322ENST00000372458Q9BW60
ENSG00000066322ENST00000413844Q9BW60
ENSG00000066322ENST00000621943Q9BW60

Expression (GTEx)

0
50
100
150
200
250
300

Pathways

PathwaySourceExternal ID
Fatty acid elongationKEGGko00062
Fatty acid elongationKEGGhsa00062
Fatty acid biosynthesis, elongation, endoplasmic reticulumKEGGhsa_M00415
Fatty acid biosynthesis, elongation, endoplasmic reticulumKEGGM00415
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
209379052010ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis.91
201661122010The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy.40
235382982013The equilibrium between long and very long chain ceramides is important for the fate of the cell and can be influenced by co-expression of CerS.17
244891102014Lorenzo's oil inhibits ELOVL1 and lowers the level of sphingomyelin with a saturated very long-chain fatty acid.10
254996062015Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis.7
294969802018Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.6
304872462019De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy.6

Citation

Dessen P

ELOVL1 (ELOVL fatty acid elongase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54281/elovl1