FAR1 (fatty acyl-CoA reductase 1)

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FAR1 (fatty acyl-CoA reductase 1)

2014-11-01 Affiliation

Identity

HGNC

LOCATION

11p15.3

LOCUSID

ALIAS

CSPSD,MLSTD2,PFCRD,SDR10E1

FUSION GENES

Show Gene Fusions

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)

0

10

20

30

40

50

60

70

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

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)

Not detected

Low

Medium

High

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/teaching-explorer/img/js/lib/popper.js