• Gene id: 64834

Gene Summary

• Gene Symbol: ELOVL1   Gene   UCSC   Ensembl
• Aliases: CGI-88, IKSHD, Ssc1
• Gene name: ELOVL fatty acid elongase 1
• Alternate names: elongation of very long chain fatty acids protein 1, 3-keto acyl-CoA synthase ELOVL1, ELOVL FA elongase 1, elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1, very long chain 3-ketoacyl-CoA synthase 1, very long chain 3-oxoacyl-CoA ,
• Gene location: 1p34.2 (43368073: 43363396)     Exons: 9     NC_000001.11
• OMIM: 605734

Protein Summary

• Protein general information: Q9BW60  
  • Name: Elongation of very long chain fatty acids protein 1 (EC 2.3.1.199) (3 keto acyl CoA synthase ELOVL1) (ELOVL fatty acid elongase 1) (ELOVL FA elongase 1) (Very long chain 3 ketoacyl CoA synthase 1) (Very long chain 3 oxoacyl CoA synthase 1)
  • Length: 279  
  • Mass: 32663
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MEAVVNLYQEVMKHADPRIQGYPLMGSPLLMTSILLTYVYFVLSLGPRIMANRKPFQLRGFMIVYNFSLVALSLY
  IVYEFLMSGWLSTYTWRCDPVDYSNSPEALRMVRVAWLFLFSKFIELMDTVIFILRKKDGQVTFLHVFHHSVLPW
  SWWWGVKIAPGGMGSFHAMINSSVHVIMYLYYGLSAFGPVAQPYLWWKKHMTAIQLIQFVLVSLHISQYYFMSSC
  NYQYPVIIHLIWMYGTIFFMLFSNFWYHSYTKGKRLPRALQQNGAPGIAKVKAN

• Structural information:
  • Interpro: IPR030457  IPR002076  IPR033681  
  • Prosite: PS01188
  • STRING: ENSP00000477602
• Other Databases: GeneCards:  ELOVL1  Malacards:  ELOVL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030176	integral component of endoplasmic reticulum membrane	IBA	cellular component
GO:0034625	fatty acid elongation, monounsaturated fatty acid	IBA	biological process
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
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:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0102337	3-oxo-cerotoyl-CoA synthase activity	IEA	molecular function
GO:0102756	very-long-chain 3-ketoacyl-CoA synthase activity	IEA	molecular function
GO:0102336	3-oxo-arachidoyl-CoA synthase activity	IEA	molecular function
GO:0102338	3-oxo-lignoceronyl-CoA synthase activity	IEA	molecular function
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:0035338	long-chain fatty-acyl-CoA biosynthetic process	TAS	biological process
GO:0043651	linoleic acid metabolic process	TAS	biological process
GO:0046513	ceramide biosynthetic process	IEA	biological process
GO:0061436	establishment of skin barrier	IEA	biological process
GO:0030148	sphingolipid biosynthetic process	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0035338	long-chain fatty-acyl-CoA biosynthetic process	IEA	biological process
GO:0006636	unsaturated fatty acid biosynthetic process	IEA	biological process
GO:0034625	fatty acid elongation, monounsaturated fatty acid	IEA	biological process
GO:0009922	fatty acid elongase activity	IEA	molecular function
GO:0042761	very long-chain fatty acid biosynthetic process	IEA	biological process
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:0034625	fatty acid elongation, monounsaturated fatty acid	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0019367	fatty acid elongation, saturated fatty acid	IDA	biological process
GO:0042761	very long-chain fatty acid biosynthetic process	IDA	biological process
GO:0042761	very long-chain fatty acid biosynthetic process	IDA	biological process
GO:0019367	fatty acid elongation, saturated fatty acid	IDA	biological process
GO:0009922	fatty acid elongase activity	IDA	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0030176	integral component of endoplasmic reticulum membrane	NAS	cellular component
GO:0030148	sphingolipid biosynthetic process	IMP	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

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