FADS1 - fatty acid desaturase 1 Gene

Also Known as D5D; TU12; FADS6; FADSD5; LLCDL1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3992

About FADS1

Cytogenetic location: 11q12.2 Genomic coordinates (GRCh38): 11:61,799,627-61,817,003 (from NCBI)

This gene has 21 transcripts (splice variants), 209 orthologues and 3 paralogues. Broad expression in adrenal (RPKM 31.8), brain (RPKM 28.7) and 20 other tissues.

Summary

The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase Enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008]

FADS1 Products (1)

mRNA Protein Name
NM_013402.7 NP_037534.5 acyl-CoA (8-3)-desaturase

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables acyl-CoA delta5-desaturase activity IDA
IDA: Inferred from direct assay
10769175 GOA
enables linoleoyl-CoA desaturase activity IDA
IDA: Inferred from direct assay
10601301 GOA
enables oxidoreductase activity IDA
IDA: Inferred from direct assay
10601301 GOA
Biological Process GO Annotation Evidence References Source
involved in cellular response to starvation IDA
IDA: Inferred from direct assay
10601301 GOA
acts upstream of or within long-chain fatty acid biosynthetic process IDA
IDA: Inferred from direct assay
10601301 GOA
acts upstream of or within unsaturated fatty acid biosynthetic process IDA
IDA: Inferred from direct assay
10601301 GOA
involved in unsaturated fatty acid biosynthetic process IDA
IDA: Inferred from direct assay
10601301 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FADS1 Protein Structure

Cyt-b5

Cyt-b5: Cytochrome b5-like Heme/Steroid binding domain (76 - 150)

FA_desaturase

FA_desaturase: Fatty acid desaturase (214 - 474)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 501 a.a.
Protein Preferred Names Protein Names

acyl-CoA (8-3)-desaturase

  • delta(5) desaturase

FADS1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83165 FADS1 Antibody (YA2910) WB, IHC-F, IHC-P, ICC/IF Human, Mouse, Rat
HY-P83165A FADS1 Antibody (YA2910)(PBS only) WB, IHC-F, IHC-P, ICC/IF Human, Mouse, Rat

Related Diseases

Diseases Alias
Lipid Metabolism Disorder

  • Dyslipidemia

  • Disorder Of Fatty Acid Metabolism

  • Lipid Metabolism Disorders

  • Fatty Acid Metabolism Disorder

  • Disorder Of Lipid Metabolism

  • Abnormality Of Lipid Metabolism

  • Lipid Metabolism, Inborn Errors

  • Dyslipidemias

  • Disorders Of Lipid Metabolism

  • Congenital Disorders Of Lipid Metabolism

  • Inherited Disorders Of Lipid Metabolism
Hypobetalipoproteinemia, Familial, 1

  • Hypobetalipoproteinemia

  • Familial Hypobetalipoproteinemia 1

  • Familial Hypobetalipoproteinemia

  • FHBL1

  • Hypobetalipoproteinemia, Familial

  • Fhbl

  • Acanthocytosis With Hypobetalipoproteinemia

  • Hypobetalipoproteinemias

  • Hypobetalipoproteinemia, Normotriglyceridemic

  • Hypo-Beta-Lipoproteinemia

  • Hypobetalipoprotéinemia, Familial

  • Normotriglyceridemic Hypobetalipoproteinemia

  • Hypobetalipoproteinemia, Familial, Type 1
Fetal Akinesia Deformation Sequence 4

  • FADS4

  • Fetal Akinesia Deformation Sequence Syndrome 4

  • Akinesia, Fetal, Deformation Sequence, Type 4
Vitelliform Macular Dystrophy

  • Best Disease

  • Juvenile-Onset Vitelliform Macular Dystrophy

  • Macular Dystrophy, Vitelliform

  • Best Macular Dystrophy

  • Vitelliform Dystrophy
Neuroblastoma

  • Nb

  • Neuroblastoma, Susceptibility To

  • Neuroblastomas

  • Central Neuroblastoma
Hyperlipoproteinemia, Type V

  • Hyperlipoproteinemia Type V

  • Hyperchylomicronemia, Late-Onset

  • Familial Type 5 Hyperlipoproteinemia

  • Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial

  • Hyperlipidemia, Type V

  • Hyperlipemia, Mixed

  • Hyperlipemia, Combined Fat And Carbohydrate-Induced

  • Familial Hyperlipoproteinemia Type V

  • Fredrickson Type V Lipaemia

  • Hyperlipoproteinemia Type 5

  • Hyperchylomicronemia Late Onset

  • Hyperlipemia Combined Fat And Carbohydrate-Induced

  • Hyperlipemia Mixed

  • Hyperlipidemia Type V

  • Mixed Hyperlipemia

  • Type V Hyperlipoproteinemia

  • Hyperlipoproteinemia 5

  • HLPP5

  • Hyperlipidemia, Familial Combined

  • Mixed Hyperlipidemia
Fetal Akinesia Deformation Sequence 1

  • Fetal Akinesia Deformation Sequence

  • Fads

  • Fetal Akinesia Sequence

  • FADS1

  • Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia

  • Pena-Shokeir Syndrome Type 1

  • Fetal Akinesia Deformation Sequence Syndrome

  • Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome

  • Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia

  • Pena-Shokeir Syndrome, Type I

  • Foetal Akinesia Deformation Sequence Syndrome

  • Foetal Akinesia Sequence

  • Fetal Akinesia Deformation Sequence Syndrome 1

  • Pena-Shokeir Syndrome, Type 1

  • Pena Shokeir Syndrome, Type 1

  • Akinesia, Fetal, Deformation Sequence

  • Akinesia, Fetal, Deformation Sequence, Type 1

  • Pena-Shokeir Syndrome Type I
Diabetes Mellitus

  • Diabetes
Type 2 Diabetes Mellitus

  • Insulin Resistance

  • NIDDM

  • Type 2 Diabetes

  • Diabetes Mellitus, Non-Insulin-Dependent

  • T2D

  • Noninsulin-Dependent Diabetes Mellitus

  • Diabetes Mellitus, Type Ii

  • Maturity-Onset Diabetes

  • Insulin Resistance, Severe, Digenic

  • Diabetes Mellitus, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent

  • Diabetes Mellitus, Noninsulin-Dependent, Association With

  • Diabetes Mellitus, Noninsulin-Dependent, Late Onset

  • Hypertension, Insulin Resistance-Related, Susceptibility To

  • Insulin Resistance, Susceptibility To

  • Non-Insulin-Dependent Diabetes Mellitus

  • Type Ii Diabetes Mellitus

  • Adult-Onset Diabetes Mellitus

  • Maturity-Onset Diabetes Mellitus

  • Diabetes Mellitus Type 2

  • Type Ii Diabetes

  • Type 2 Diabetes Mellitus, Susceptibility To

  • Diabetes, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 2, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, 2

  • Diabetes Mellitus, Type Ii, Susceptibility To

  • Hypertension, Insulin Resistance-Related

  • Adult-Onset Diabetes

  • Aodm

  • Diabetes Mellitus, Adult-Onset

  • Diabetes Mellitus Type Ii

  • Diabetes Mellitus Type 2, Susceptibility To

  • Diabetes, Type Ii, Susceptibility To

  • Diabetes Type 2

  • Diabetes Mellitus

  • Adult Onset Diabetes

  • Maturity Onset Diabetes

  • Nonketotic Diabetes

  • Non-Insulin Dependent Diabetes Mellitus

  • T2dm - [Type 2 Diabetes Mellitus]

  • Niddm - [Non Insulin Dependent Diabetes Mellitus]

  • Dm2

  • Dm Type Ii

  • Diabetic Type 2

  • Insulin Requiring Type 2 Diabetes

  • Noninsulin Dependent Diabetes

  • Non-Insulin-Dependent Diabetes Mellitus Without Complications

  • Diabetes Due To Insulin Secretory Defect

  • Diabetes Mellitus Due To Insulin Secretory Defect

  • Non-Insulin-Dependent Diabetes Of The Young

  • Senile Diabetes

  • Nonketotic Hyperglycaemia

  • Stable Diabetes
Body Mass Index Quantitative Trait Locus 11

  • OBESITY

  • Obesity, Susceptibility To

  • Leanness, Inherited

  • Obesity, Susceptibility To, Bmiq11

  • Obesity, Mild, Early-Onset

  • Obesity, Association With

  • Obesity, Early-Onset, Susceptibility To

  • Obesity, Severe

  • Obesity, Severe, And Type Ii Diabetes

  • Obesity, Late-Onset

  • Obesity , Susceptibility To

  • BMIQ11

  • Obesity Bmiq11

  • Obesity, Early-Onset

  • Simple Obesity Nos

  • Excess Fat

  • Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

  • Adiposis
Retinitis Pigmentosa

  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS04666 FADS1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-164752 6‑Hydroxy‑FAD / Unkown
HY-RS08852 MUSK Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18814 Fads1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25304 Fads1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus FADS1 MGD MGI:1923517
Canis familiaris FADS1 VGNC VGNC:51870
Macaca mulatta FADS1 VGNC VGNC:72471
Rattus norvegicus FADS1 RGD RGD:621678
Bos taurus FADS1 VGNC VGNC:28701
Felis catus FADS1 VGNC VGNC:97427
Others FADS1 NCBI