Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
60481
Gene name Gene Name - the full gene name approved by the HGNC.
ELOVL fatty acid elongase 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ELOVL5
Synonyms (NCBI Gene) Gene synonyms aliases
HELO1, SCA38, dJ483K16.1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p12.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs587777670 C>A,T Pathogenic Genic downstream transcript variant, missense variant, stop gained, coding sequence variant
rs587777671 G>C Pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001832 hsa-miR-124-3p Microarray, qRT-PCR 16549876
MIRT001832 hsa-miR-124-3p qRT-PCR;Other 16549876
MIRT024815 hsa-miR-215-5p Microarray 19074876
MIRT026394 hsa-miR-192-5p Microarray 19074876
MIRT028547 hsa-miR-30a-5p Proteomics 18668040
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20937905, 32296183, 38422897
GO:0005783 Component Endoplasmic reticulum IDA 20937905
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611805 21308 ENSG00000012660
Protein
UniProt ID Q9NYP7
Protein name Very long chain fatty acid elongase 5 (EC 2.3.1.199) (3-keto acyl-CoA synthase ELOVL5) (ELOVL fatty acid elongase 5) (ELOVL FA elongase 5) (Elongation of very long chain fatty acids protein 5) (Fatty acid elongase 1) (hELO1) (Very long chain 3-ketoacyl-Co
Protein function Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01151 ELO 27 262 GNS1/SUR4 family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung and brain. Expressed in the cerebellum. {ECO:0000269|PubMed:10970790, ECO:0000269|PubMed:20937905, ECO:0000269|PubMed:25065913}.
Sequence
Sequence length 299
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Fatty acid elongation
Biosynthesis of unsaturated fatty acids
Metabolic pathways
Fatty acid metabolism
  Linoleic acid (LA) metabolism
alpha-linolenic acid (ALA) metabolism
Synthesis of very long-chain fatty acyl-CoAs
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spinocerebellar Ataxia spinocerebellar ataxia type 38 rs587777670, rs587777671 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Survival in colorectal cancer (distant metastatic) N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Glaucoma Glaucoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Stimulate 39794751
Anxiety Disorders Associate 27143115
Attention Deficit Disorder with Hyperactivity Associate 32661301
Carcinoma Squamous Cell Associate 39738606
Colorectal Neoplasms Associate 26586795, 35779418
Colorectal Neoplasms Inhibit 28931069
Deglutition Disorders Associate 27143115
Dermatitis Atopic Associate 24167612
Diabetes Mellitus Associate 27899364
Esophageal Neoplasms Associate 33463006