FADS3 - fatty acid desaturase 3 Gene

Also Known as CYB5RP; LLCDL3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3995

About FADS3

Cytogenetic location: 11q12.2 Genomic coordinates (GRCh38): 11:61,873,526-61,892,224 (from NCBI)

This gene has 13 transcripts (splice variants), 220 orthologues and 3 paralogues. Broad expression in fat (RPKM 37.4), placenta (RPKM 28.8) and 22 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]

FADS3 Products (1)

mRNA Protein Name
NM_021727.5 NP_068373.1 fatty acid desaturase 3
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 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

FADS3 Protein Structure

Cyt-b5

Cyt-b5: Cytochrome b5-like Heme/Steroid binding domain (23 - 96)

FA_desaturase

FA_desaturase: Fatty acid desaturase (159 - 415)

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

fatty acid desaturase 3

  • cytochrome b5-related protein

Related Diseases

Diseases Alias
Fetal Akinesia Deformation Sequence 4
  • FADS4

  • Fetal Akinesia Deformation Sequence Syndrome 4

  • Akinesia, Fetal, Deformation Sequence, Type 4

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

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

Hyperlipidemia, Familial Combined, 3
  • Familial Combined Hyperlipidemia

  • Combined Hyperlipidemia, Familial

  • Mixed Hyperlipidaemia

  • FCHL3

  • Hyperlipidemia, Familial Combined

  • Familial Multiple Lipoprotein-Type Hyperlipidemia

  • Hyperbetalipoproteinemia With Prebetalipoproteinemia

  • Type Iib Hyperlipoproteinemia

  • Hyperlipidemia Familial Combined

  • Hyperlipoproteinemia Type Iib

  • Mixed Hyperlipemia

  • Hyperlipidaemia, Group C

  • Familial Hypercholesterolaemia With Hyperlipaemia

  • Familial Hyperbetalipoproteinaemia And Hyperprebetalipoproteinaemia

  • Hyperbetalipoproteinaemia With Prebetalipoproteinaemia

  • Hypercholesterolaemia With Endogenous Hyperglyceridaemia

  • Prebetalipoproteinemia Hyperbetalipoproteinaemia

  • Remnant Hyperlipoproteinemia

Hereditary Sensory And Autonomic Neuropathy Type 1
  • Hereditary Sensory And Autonomic Neuropathy Type I

  • Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome

  • Hsan1e

  • Hsan1

  • Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy

  • Hsn1e

  • Hsnie

  • Hereditary Sensory Neuropathy Type Ie

  • Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome

  • Hereditary Sensory And Autonomic Neuropathy Type Ie

  • Hereditary Sensory And Autonomic Neuropathy Type 1e

  • Hereditary Sensory Neuropathy With Hearing Loss And Dementia

  • Dnmt1-Complex Disorder

  • Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss

  • Hsn Ie

  • Hereditary Sensory Autonomic Neuropathy, Type 1

  • Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

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

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

Orthologs Information

Species Symbol Source ID
Bos taurus FADS3 VGNC VGNC:28703
Mus musculus FADS3 MGD MGI:1928740
Felis catus FADS3 VGNC VGNC:62039
Canis familiaris FADS3 VGNC VGNC:40565
Rattus norvegicus FADS3 RGD RGD:628876
Macaca mulatta FADS3 VGNC VGNC:72473
Others FADS3 NCBI