ELOVL5 (ELOVL fatty acid elongase 5)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 60481
Gene name ELOVL fatty acid elongase 5
Gene symbol ELOVL5
Synonyms (NCBI Gene)
HELO1SCA38dJ483K16.1
Chromosome 6
Chromosome location 6p12.1
Summary 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.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
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.
790
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (790)
miRTarBase ID miRNA Experiments Reference
MIRT001832 hsa-miR-124-3p MicroarrayqRT-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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (45)
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
611805 21308 ENSG00000012660
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
19
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Spinocerebellar ataxia type 38 Pathogenic rs587777670, rs587777671 RCV000133587
RCV000133588
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs181243280 RCV005931679
ELOVL5-related disorder Benign; Likely benign rs9474477, rs766691434, rs150583340 RCV003968496
RCV003964291
RCV004758732
Familial cancer of breast Likely benign rs181243280 RCV005931678
Myoepithelial tumor Uncertain significance rs940411670 RCV002463909
Show/Hide Text Mining Associations (21)
Associations from Text MiningDisease 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