Identity
HGNC
LOCATION
11p15.3
LOCUSID
ALIAS
CSPSD,MLSTD2,PFCRD,SDR10E1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 84188
MIM: 616107
HGNC: 26222
Ensembl: ENSG00000197601
Variants:
dbSNP: 84188
ClinVar: 84188
TCGA: ENSG00000197601
COSMIC: FAR1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000197601 | ENST00000354817 | Q8WVX9 |
| ENSG00000197601 | ENST00000532502 | E9PPB8 |
| ENSG00000197601 | ENST00000532701 | E9PNW8 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Peroxisome | KEGG | ko04146 |
| Peroxisome | KEGG | hsa04146 |
| Metabolism | REACTOME | R-HSA-1430728 |
| Metabolism of lipids and lipoproteins | REACTOME | R-HSA-556833 |
| Wax biosynthesis | REACTOME | R-HSA-8848584 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33239752 | 2021 | An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. | 12 |
| 33239752 | 2021 | An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. | 12 |
| 25439727 | 2014 | A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. | 49 |
| 25439727 | 2014 | A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. | 49 |
| 24108123 | 2013 | Topogenesis and homeostasis of fatty acyl-CoA reductase 1. | 25 |
| 24108123 | 2013 | Topogenesis and homeostasis of fatty acyl-CoA reductase 1. | 25 |
| 20071337 | 2010 | Posttranslational regulation of fatty acyl-CoA reductase 1, Far1, controls ether glycerophospholipid synthesis. | 52 |
| 20071337 | 2010 | Posttranslational regulation of fatty acyl-CoA reductase 1, Far1, controls ether glycerophospholipid synthesis. | 52 |
| 15220348 | 2004 | Mammalian wax biosynthesis. I. Identification of two fatty acyl-Coenzyme A reductases with different substrate specificities and tissue distributions. | 106 |
| 15220349 | 2004 | Mammalian wax biosynthesis. II. Expression cloning of wax synthase cDNAs encoding a member of the acyltransferase enzyme family. | 44 |
| 15220348 | 2004 | Mammalian wax biosynthesis. I. Identification of two fatty acyl-Coenzyme A reductases with different substrate specificities and tissue distributions. | 106 |
| 15220349 | 2004 | Mammalian wax biosynthesis. II. Expression cloning of wax synthase cDNAs encoding a member of the acyltransferase enzyme family. | 44 |
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)
