• Gene id: 60481

Gene Summary

• Gene Symbol: ELOVL5   Gene   UCSC   Ensembl
• Aliases: HELO1, SCA38, dJ483K16.1
• Gene name: ELOVL fatty acid elongase 5
• Alternate names: elongation of very long chain fatty acids protein 5, 3-keto acyl-CoA synthase ELOVL5, ELOVL FA elongase 5, ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast), fatty acid elongase 1, homolog of yeast long chain polyun,
• Gene location: 6p12.1 (53349178: 53267397)     Exons: 7     NC_000006.12
• Gene summary(Entrez): This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is involved in the elongation of long-chain polyunsaturated
• OMIM: 611805

Protein Summary

• Protein general information: Q9NYP7  
  • Name: Elongation of very long chain fatty acids protein 5 (EC 2.3.1.199) (3 keto acyl CoA synthase ELOVL5) (ELOVL fatty acid elongase 5) (ELOVL FA elongase 5) (Fatty acid elongase 1) (hELO1) (Very long chain 3 ketoacyl CoA synthase 5) (Very long chain 3 oxoacyl
  • Length: 299  
  • Mass: 35293
  • Tissue specificity: Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung and brain. Expressed in the cerebellum. {ECO
• Sequence:

  MEHFDASLSTYFKALLGPRDTRVKGWFLLDNYIPTFICSVIYLLIVWLGPKYMRNKQPFSCRGILVVYNLGLTLL
  SLYMFCELVTGVWEGKYNFFCQGTRTAGESDMKIIRVLWWYYFSKLIEFMDTFFFILRKNNHQITVLHVYHHASM
  LNIWWFVMNWVPCGHSYFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQLLQFVLTIIQTSCGVIWPC
  TFPLGWLYFQIGYMISLIALFTNFYIQTYNKKGASRRKDHLKDHQNGSMAAVNGHTNSFSPLENNVKPRKLRKD

• Structural information:
  • Interpro: IPR002076  IPR033677  
  • STRING: ENSP00000359956
• Other Databases: GeneCards:  ELOVL5  Malacards:  ELOVL5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034625	fatty acid elongation, monounsaturated fatty acid	IBA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IBA	cellular component
GO:0042761	very long-chain fatty acid biosynthetic process	IBA	biological process
GO:0034626	fatty acid elongation, polyunsaturated fatty acid	IBA	biological process
GO:0030148	sphingolipid biosynthetic process	IBA	biological process
GO:0019367	fatty acid elongation, saturated fatty acid	IBA	biological process
GO:0009922	fatty acid elongase activity	IBA	molecular function
GO:0097447	dendritic tree	IDA	cellular component
GO:0043025	neuronal cell body	IDA	cellular component
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:0016740	transferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0102337	3-oxo-cerotoyl-CoA synthase activity	IEA	molecular function
GO:0102338	3-oxo-lignoceronyl-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: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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0009922	fatty acid elongase activity	IEA	molecular function
GO:0034626	fatty acid elongation, polyunsaturated fatty acid	IEA	biological process
GO:0042761	very long-chain fatty acid biosynthetic process	IEA	biological process
GO:0045723	positive regulation of fatty acid biosynthetic process	IMP	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006636	unsaturated fatty acid biosynthetic process	IEA	biological process
GO:0034625	fatty acid elongation, monounsaturated fatty acid	IEA	biological process
GO:0035338	long-chain fatty-acyl-CoA biosynthetic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0009922	fatty acid elongase activity	IEA	molecular function
GO:0042761	very long-chain fatty acid biosynthetic process	IEA	biological process
GO:0034626	fatty acid elongation, polyunsaturated fatty acid	IEA	biological process
GO:0006636	unsaturated 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:0009922	fatty acid elongase activity	IDA	molecular function
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:0034626	fatty acid elongation, polyunsaturated fatty acid	IDA	biological process
GO:0034626	fatty acid elongation, polyunsaturated fatty acid	IDA	biological process
GO:0016020	membrane	HDA	cellular component

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
Spinocerebellar ataxia	KEGG:H00063
Spinocerebellar ataxia	KEGG:H00063
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