FADS1 (fatty acid desaturase 1)

2016-04-01  

Identity

HGNC
FADS1
LOCATION
11q12.2
LOCUSID
3992
ALIAS
D5D,FADS6,FADSD5,LLCDL1,TU12
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3992
MIM: 606148
HGNC: 3574
Ensembl: ENSG00000149485

Variants:

dbSNP: 3992
ClinVar: 3992
TCGA: ENSG00000149485
COSMIC: FADS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000149485ENST00000350997A0A0A0MR51
ENSG00000149485ENST00000421879C9JJB3
ENSG00000149485ENST00000424501H7C2V0
ENSG00000149485ENST00000433932O60427
ENSG00000149485ENST00000448607C9J425
ENSG00000149485ENST00000460649F5H3P6
ENSG00000149485ENST00000466716F5H2H3
ENSG00000149485ENST00000473263F5H2R9
ENSG00000149485ENST00000491310H0YB97
ENSG00000149485ENST00000536991F5H3U5
ENSG00000149485ENST00000539419F5H1Q7
ENSG00000149485ENST00000539999F5H8G5
ENSG00000149485ENST00000540767F5GWE3
ENSG00000149485ENST00000542506O60427
ENSG00000149485ENST00000544309F5H0Y2
ENSG00000149485ENST00000544696F5H5X5
ENSG00000149485ENST00000545245F5H852
ENSG00000149485ENST00000545405F5GYH4

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
Biosynthesis of unsaturated fatty acidsKEGGko01040
Biosynthesis of unsaturated fatty acidsKEGGhsa01040
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
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)REACTOMER-HSA-400206
PPARA activates gene expressionREACTOMER-HSA-1989781
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
200818582010New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.925
190609062009Common variants at 30 loci contribute to polygenic dyslipidemia.552
190609102009Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.337
200375892010A genome-wide perspective of genetic variation in human metabolism.252
207143482010Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits.246
203858262010Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).199
166701582006Common genetic variants of the FADS1 FADS2 gene cluster and their reconstructed haplotypes are associated with the fatty acid composition in phospholipids.169
166701582006Common genetic variants of the FADS1 FADS2 gene cluster and their reconstructed haplotypes are associated with the fatty acid composition in phospholipids.169
191482762009Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study.156
188427802008FADS genotypes and desaturase activity estimated by the ratio of arachidonic acid to linoleic acid are associated with inflammation and coronary artery disease.102

Citation

Dessen P

FADS1 (fatty acid desaturase 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-04-01

Online version: http://atlasgeneticsoncology.org/gene/55715/fads1