• Gene id: 3995

Gene Summary

• Gene Symbol: FADS3   Gene   UCSC   Ensembl
• Aliases: CYB5RP, LLCDL3
• Gene name: fatty acid desaturase 3
• Alternate names: fatty acid desaturase 3, cytochrome b5-related protein, delta(13) desaturase, delta(13) fatty acid desaturase, delta-9 fatty acid desaturase, delta-9-desaturase, linoleoyl-CoA desaturase (delta-9-desaturase)-like 3,
• Gene location: 11q12.2 (61892223: 61873525)     Exons: 12     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
• OMIM: 186855

Protein Summary

• Protein general information: Q9Y5Q0  
  • Name: Fatty acid desaturase 3 (EC 1.14.19. ) (Delta(13) fatty acid desaturase) (Delta(13) desaturase)
  • Length: 445  
  • Mass: 51145
  • Tissue specificity: Highly expressed in various organs and tissues including liver, kidney, brain, lung, pancreas, testis, ovary and skeletal muscle (at protein level). {ECO
• Sequence:

  MGGVGEPGPREGPAQPGAPLPTFCWEQIRAHDQPGDKWLVIERRVYDISRWAQRHPGGSRLIGHHGAEDATDAFR
  AFHQDLNFVRKFLQPLLIGELAPEEPSQDGPLNAQLVEDFRALHQAAEDMKLFDASPTFFAFLLGHILAMEVLAW
  LLIYLLGPGWVPSALAAFILAISQAQSWCLQHDLGHASIFKKSWWNHVAQKFVMGQLKGFSAHWWNFRHFQHHAK
  PNIFHKDPDVTVAPVFLLGESSVEYGKKKRRYLPYNQQHLYFFLIGPPLLTLVNFEVENLAYMLVCMQWADLLWA
  ASFYARFFLSYLPFYGVPGVLLFFVAVRVLESHWFVWITQMNHIPKEIGHEKHRDWVSSQLAATCNVEPSLFTNW
  FSGHLNFQIEHHLFPRMPRHNYSRVAPLVKSLCAKHGLSYEVKPFLTALVDIVRSLKKSGDIWLDAYLHQ

• Structural information:
  • Protein Domains: (20..9-)
    heme-binding (/note="Cytochrome-b5)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00279"-)
  • Interpro: IPR001199  IPR036400  IPR005804  IPR012171  
  • Prosite: PS50255
  • STRING: ENSP00000278829
• Other Databases: GeneCards:  FADS3  Malacards:  FADS3

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:0055114	oxidation-reduction process	IEA	biological process
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006636	unsaturated fatty acid biosynthetic process	IEA	biological process
GO:0006636	unsaturated fatty acid biosynthetic process	NAS	biological process
GO:0016020	membrane	NAS	cellular component
GO:0003674	molecular_function	ND	molecular function

Diseases

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

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