• Gene id: 3992

Gene Summary

• Gene Symbol: FADS1   Gene   UCSC   Ensembl
• Aliases: D5D, FADS6, FADSD5, LLCDL1, TU12
• Gene name: fatty acid desaturase 1
• Alternate names: acyl-CoA (8-3)-desaturase, delta(5) desaturase, delta-5 fatty acid desaturase, linoleoyl-CoA desaturase (delta-6-desaturase)-like 1,
• Gene location: 11q12.2 (61817002: 61799626)     Exons: 13     NC_000011.10
• Gene summary(Entrez): 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 mem

Protein Summary

• Protein general information: O60427  
  • Name: Acyl CoA (8 3) desaturase (EC 1.14.19.44) (Delta(5) fatty acid desaturase) (D5D) (Delta(5) desaturase) (Delta 5 desaturase) (Fatty acid desaturase 1)
  • Length: 444  
  • Mass: 51964
  • Tissue specificity: Widely expressed, with highest levels in liver, brain, adrenal gland and heart. Highly expressed in fetal liver and brain. {ECO
• Sequence:

  MAPDPVAAETAAQGPTPRYFTWDEVAQRSGCEERWLVIDRKVYNISEFTRRHPGGSRVISHYAGQDATDPFVAFH
  INKGLVKKYMNSLLIGELSPEQPSFEPTKNKELTDEFRELRATVERMGLMKANHVFFLLYLLHILLLDGAAWLTL
  WVFGTSFLPFLLCAVLLSAVQAQAGWLQHDFGHLSVFSTSKWNHLLHHFVIGHLKGAPASWWNHMHFQHHAKPNC
  FRKDPDINMHPFFFALGKILSVELGKQKKKYMPYNHQHKYFFLIGPPALLPLYFQWYIFYFVIQRKKWVDLAWMI
  TFYVRFFLTYVPLLGLKAFLGLFFIVRFLESNWFVWVTQMNHIPMHIDHDRNMDWVSTQLQATCNVHKSAFNDWF
  SGHLNFQIEHHLFPTMPRHNYHKVAPLVQSLCAKHGIEYQSKPLLSAFADIIHSLKESGQLWLDAYLHQ

• Structural information:
  • Protein Domains: (17..9-)
    heme-binding (/note="Cytochrome-b5)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00279"-)
  • Interpro: IPR001199  IPR036400  IPR005804  IPR012171  
  • Prosite: PS50255
  • STRING: ENSP00000322229
• Other Databases: GeneCards:  FADS1  Malacards:  FADS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0000248	C-5 sterol desaturase activity	TAS	molecular function
GO:0016021	integral component of membrane	TAS	cellular component
GO:0006636	unsaturated fatty acid biosynthetic process	TAS	biological process
GO:0062076	acyl-CoA delta5-desaturase activity	IEA	molecular function
GO:0042759	long-chain fatty acid biosynthetic process	IDA	biological process
GO:0016213	linoleoyl-CoA desaturase activity	IDA	molecular function
GO:0006636	unsaturated fatty acid biosynthetic process	IDA	biological process
GO:0036109	alpha-linolenic acid metabolic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0019216	regulation of lipid metabolic process	TAS	biological process
GO:0043651	linoleic acid metabolic process	TAS	biological process
GO:0045485	omega-6 fatty acid desaturase activity	TAS	molecular function
GO:0045485	omega-6 fatty acid desaturase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0006636	unsaturated fatty acid biosynthetic process	IEA	biological process
GO:0006636	unsaturated fatty acid biosynthetic process	IDA	biological process
GO:0016491	oxidoreductase activity	IDA	molecular function
GO:0009267	cellular response to starvation	IDA	biological process
GO:0007267	cell-cell signaling	NAS	biological process
GO:0016020	membrane	HDA	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0006355	regulation of transcription, DNA-templated	NAS	biological process
GO:0043231	intracellular membrane-bounded organelle	NAS	cellular component
GO:0046456	icosanoid biosynthetic process	TAS	biological process
GO:0045595	regulation of cell differentiation	NAS	biological process
GO:0016020	membrane	NAS	cellular component
GO:0008654	phospholipid biosynthetic process	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01212	Fatty acid metabolism
hsa01040	Biosynthesis of unsaturated fatty acids

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray