• Gene id: 79071

Gene Summary

• Gene Symbol: ELOVL6   Gene   UCSC   Ensembl
• Aliases: FACE, FAE, LCE
• Gene name: ELOVL fatty acid elongase 6
• Alternate names: elongation of very long chain fatty acids protein 6, 3-keto acyl-CoA synthase ELOVL6, ELOVL FA elongase 6, ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast), fatty acid elongase 2, fatty acyl-CoA elongase, hELO2, long,
• Gene location: 4q25 (111918912: 111926870)     Exons: 4     NC_000011.10
• Gene summary(Entrez): Fatty acid elongases (EC 6.2.1.3), such as ELOVL6, use malonyl-CoA as a 2-carbon donor in the first and rate-limiting step of fatty acid elongation (Moon et al., 2001 [PubMed 11567032]).[supplied by OMIM, Mar 2008]
• OMIM: 611546

Protein Summary

• Protein general information: Q9H5J4  
  • Name: Elongation of very long chain fatty acids protein 6 (EC 2.3.1.199) (3 keto acyl CoA synthase ELOVL6) (ELOVL fatty acid elongase 6) (ELOVL FA elongase 6) (Fatty acid elongase 2) (hELO2) (Fatty acyl CoA elongase) (Long chain fatty acyl elongase) (Very long
  • Length: 265  
  • Mass: 31376
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MNMSVLTLQEYEFEKQFNENEAIQWMQENWKKSFLFSALYAAFIFGGRHLMNKRAKFELRKPLVLWSLTLAVFSI
  FGALRTGAYMVYILMTKGLKQSVCDQGFYNGPVSKFWAYAFVLSKAPELGDTIFIILRKQKLIFLHWYHHITVLL
  YSWYSYKDMVAGGGWFMTMNYGVHAVMYSYYALRAAGFRVSRKFAMFITLSQITQMLMGCVVNYLVFCWMQHDQC
  HSHFQNIFWSSLMYLSYLVLFCHFFFEAYIGKMRKTTKAE

• Structural information:
  • Interpro: IPR030457  IPR002076  IPR033675  
  • Prosite: PS01188
  • STRING: ENSP00000378105
• Other Databases: GeneCards:  ELOVL6  Malacards:  ELOVL6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009922	fatty acid elongase activity	IBA	molecular function
GO:0019367	fatty acid elongation, saturated fatty acid	IBA	biological process
GO:0030148	sphingolipid biosynthetic process	IBA	biological process
GO:0034626	fatty acid elongation, polyunsaturated fatty acid	IBA	biological process
GO:0042761	very long-chain fatty acid biosynthetic process	IBA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IBA	cellular component
GO:0034625	fatty acid elongation, monounsaturated fatty acid	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0009922	fatty acid elongase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0019367	fatty acid elongation, saturated fatty acid	IEA	biological process
GO:0042761	very long-chain fatty acid biosynthetic process	IEA	biological process
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0102756	very-long-chain 3-ketoacyl-CoA synthase activity	IEA	molecular function
GO:0102337	3-oxo-cerotoyl-CoA synthase activity	IEA	molecular function
GO:0102338	3-oxo-lignoceronyl-CoA synthase activity	IEA	molecular function
GO:0102336	3-oxo-arachidoyl-CoA synthase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0035338	long-chain fatty-acyl-CoA biosynthetic process	TAS	biological process
GO:0045540	regulation of cholesterol biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0120162	positive regulation of cold-induced thermogenesis	IEA	biological process
GO:0030497	fatty acid elongation	IEA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IEA	cellular component
GO:0016747	transferase activity, transferring acyl groups other than amino-acyl groups	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process
GO:0035338	long-chain fatty-acyl-CoA biosynthetic process	IEA	biological process
GO:0006636	unsaturated fatty acid biosynthetic process	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0034625	fatty acid elongation, monounsaturated fatty acid	IEA	biological process
GO:0009922	fatty acid elongase activity	IEA	molecular function
GO:0019367	fatty acid elongation, saturated fatty acid	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0042759	long-chain fatty acid biosynthetic process	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0019367	fatty acid elongation, saturated fatty acid	IDA	biological process
GO:0009922	fatty acid elongase activity	IGI	molecular function
GO:0019367	fatty acid elongation, saturated fatty acid	IGI	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01212	Fatty acid metabolism
hsa01040	Biosynthesis of unsaturated fatty acids
hsa00062	Fatty acid elongation

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq