ELOVL1 (ELOVL fatty acid elongase 1)

2014-08-01  

Identity

HGNC
ELOVL1
LOCATION
1p34.2
LOCUSID
64834
ALIAS
CGI-88,IKSHD,Ssc1
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
304872462019De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy.25
304872462019De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy.25
294969802018Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.19
294969802018Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.19
254996062015Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis.14
254996062015Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis.14
244891102014Lorenzo's oil inhibits ELOVL1 and lowers the level of sphingomyelin with a saturated very long-chain fatty acid.18
244891102014Lorenzo's oil inhibits ELOVL1 and lowers the level of sphingomyelin with a saturated very long-chain fatty acid.18
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.34
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.34
201661122010The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy.67
209379052010ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis.162
201661122010The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy.67
209379052010ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis.162

Citation

Dessen P

ELOVL1 (ELOVL fatty acid elongase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54281/gene-explorer/gene-fusions-explorer/favicon/apple-touch-icon.png