FAR1 (fatty acyl-CoA reductase 1)

2014-11-01  

Identity

HGNC
LOCATION
11p15.3
LOCUSID
ALIAS
CSPSD,MLSTD2,PFCRD,SDR10E1
FUSION GENES

Other Information

Locus ID:

NCBI: 84188
MIM: 616107
HGNC: 26222
Ensembl: ENSG00000197601

Variants:

dbSNP: 84188
ClinVar: 84188
TCGA: ENSG00000197601
COSMIC: FAR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197601ENST00000354817Q8WVX9
ENSG00000197601ENST00000532502E9PPB8
ENSG00000197601ENST00000532701E9PNW8

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Wax biosynthesisREACTOMER-HSA-8848584

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
152203482004Mammalian wax biosynthesis. I. Identification of two fatty acyl-Coenzyme A reductases with different substrate specificities and tissue distributions.71
152203492004Mammalian wax biosynthesis. II. Expression cloning of wax synthase cDNAs encoding a member of the acyltransferase enzyme family.37
200713372010Posttranslational regulation of fatty acyl-CoA reductase 1, Far1, controls ether glycerophospholipid synthesis.32
254397272014A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.23
241081232013Topogenesis and homeostasis of fatty acyl-CoA reductase 1.11

Citation

Dessen P

FAR1 (fatty acyl-CoA reductase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63294/far1-(fatty-acyl-coa-reductase-1)