ELOVL fatty acid elongase 5

Summary
Gene Symbol
  • ELOVL5
Aliases
  • HELO1
  • dJ483K16.1
Organism
Homo sapiens (human)
External Links
NCBI Gene
60481
HGNC
21308
KEGG Gene ID
hsa:60481
PubChem
60481
Alliance of Genome Resources
Annotation
Keyword
  • Acetylation
  • Alternative splicing
  • Cell projection
  • Disease variant
  • Endoplasmic reticulum
  • Fatty acid biosynthesis
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Spinocerebellar ataxia
  • Transferase
  • Transmembrane helix
Proteins
Displaying all 3 entries
UniProt Protein Name
Q9NYP7
  • 3-keto acyl-CoA synthase ELOVL5
  • ELOVL fatty acid elongase 5
  • Elongation of very long chain fatty acids protein 5
  • Fatty acid elongase 1
  • Very long chain 3-ketoacyl-CoA synthase 5
  • Very long chain 3-oxoacyl-CoA synthase 5
B3KWH9
  • 3-keto acyl-CoA synthase ELOVL5
  • ELOVL fatty acid elongase 5
  • Very long chain 3-ketoacyl-CoA synthase 5
  • Very long chain 3-oxoacyl-CoA synthase 5
A0A0A0MTI6
  • Very-long-chain 3-oxoacyl-CoA synthase
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000012660

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K10244
Name
elongation of very long chain fatty acids protein 5 [EC:2.3.1.199]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 47 in total
DO ID Disease Name Source
DOID:4195 hyperglycemia
DOID:0050753 cerebellar ataxia
DOID:0050882 spinocerebellar ataxia type 5
DOID:0050954 spinocerebellar ataxia type 1
DOID:0050955 spinocerebellar ataxia type 2
DOID:0050956 spinocerebellar ataxia type 6
DOID:0050958 spinocerebellar ataxia type 7
DOID:0050985 spinocerebellar ataxia type 38
DOID:0060319 cardiac arrest
DOID:0080199 colorectal carcinoma
The Human Phenotype Ontology
Displaying entries 1 - 10 of 21 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000514 Slow saccadic eye movements
HP:0000639 Nystagmus
HP:0000708 Atypical behavior
HP:0001251 Ataxia
HP:0001260 Dysarthria
HP:0001272 Cerebellar atrophy
HP:0001336 Myoclonus
HP:0001337 Tremor
HP:0002066 Gait ataxia
Displaying all 2 entries
Disease ID Disease Name
ORPHA:423296
  • spinocerebellar ataxia type 38
OMIM:615957
  • spinocerebellar ataxia type 38
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP006629
Gene Name
ELOVL fatty acid elongase 5

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024