fatty acyl-CoA reductase 1

Summary
Gene Symbol
  • FAR1
Aliases
  • FLJ22728
  • SDR10E1
  • short chain dehydrogenase/reductase family 10E, member 1
Organism
Homo sapiens (human)
External Links
NCBI Gene
84188
HGNC
26222
KEGG Gene ID
hsa:84188
PubChem
84188
Alliance of Genome Resources
Annotation
Keyword
  • Cataract
  • Disease variant
  • Epilepsy
  • Intellectual disability
  • Lipid biosynthesis
  • NADP
  • Oxidoreductase
  • Peroxisome
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q8WVX9
  • Male sterility domain-containing protein 2
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000197601

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K13356
Name
alcohol-forming fatty acyl-CoA reductase [EC:1.2.1.84]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 67 in total
DO ID Disease Name Source
DOID:0050886 Troyer syndrome
DOID:0060245 Mast syndrome
DOID:0060246 MASA syndrome
DOID:0060491 SPOAN syndrome
DOID:0080067 Charcot-Marie-Tooth disease type 5
DOID:0081243 rhizomelic chondrodysplasia punctate type 4
DOID:0110763 hereditary spastic paraplegia 10
DOID:0110764 hereditary spastic paraplegia 11
DOID:0110765 hereditary spastic paraplegia 12
DOID:0110766 hereditary spastic paraplegia 13
The Human Phenotype Ontology
Displaying entries 1 - 10 of 78 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000007 Autosomal recessive inheritance
HP:0000012 Urinary urgency
HP:0000020 Urinary incontinence
HP:0000219 Thin upper lip vermilion
HP:0000252 Microcephaly
HP:0000253 Progressive microcephaly
HP:0000256 Macrocephaly
HP:0000280 Coarse facial features
HP:0000316 Hypertelorism
Displaying all 4 entries
Disease ID Disease Name
OMIM:619338
  • spastic paraparesis-cataracts-speech delay syndrome
ORPHA:438178
  • fatty acyl-CoA reductase 1 deficiency
ORPHA:447753
  • hereditary spastic paraplegia 9A
OMIM:616154
  • fatty acyl-CoA reductase 1 deficiency
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP004290
Gene Name
fatty acyl CoA reductase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024