Gene Gene information from NCBI Gene database.
Entrez ID 64834
Gene name ELOVL fatty acid elongase 1
Gene symbol ELOVL1
Synonyms (NCBI Gene)
CGI-88IKSHDSsc1
Chromosome 1
Chromosome location 1p34.2
miRNA miRNA information provided by mirtarbase database.
260
miRTarBase ID miRNA Experiments Reference
MIRT002696 hsa-miR-124-3p Microarray 15685193
MIRT002696 hsa-miR-124-3p Microarray 18668037
MIRT002696 hsa-miR-124-3p Microarray 15685193
MIRT024485 hsa-miR-215-5p Microarray 19074876
MIRT026598 hsa-miR-192-5p Microarray 19074876
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20937905, 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.
MIM HGNC e!Ensembl
611813 14418 ENSG00000066322
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BW60
Protein name Very long chain fatty acid elongase 1 (EC 2.3.1.199) (3-keto acyl-CoA synthase ELOVL1) (ELOVL fatty acid elongase 1) (ELOVL FA elongase 1) (Elongation of very long chain fatty acids protein 1) (Very long chain 3-ketoacyl-CoA synthase 1) (Very long chain 3
Protein function Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle (PubMed:29496980, PubMed:30487246). This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carb
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01151 ELO 23 262 GNS1/SUR4 family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:20937905, ECO:0000269|PubMed:30487246}.
Sequence
Sequence length 279
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features Pathogenic rs2153923212, rs1570486718 RCV002248361
RCV000808178
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ELOVL1-related disorder Benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Optic atrophy Benign ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1 CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acanthosis Nigricans Acanthosis Nigricans HPO_DG
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 20166112, 20626744, 25499606
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy Pubtator 20166112, 22911730, 26581106 Associate
★☆☆☆☆
Found in Text Mining only
Adrenomyeloneuropathy Adrenomyeloneuropathy BEFREE 26843114
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 28214830, 33731797 Associate
★☆☆☆☆
Found in Text Mining only
Dermatitis Dermatitis BEFREE 30838224
★☆☆☆☆
Found in Text Mining only
Dry Eye Syndromes Dry Eye Syndromes BEFREE 29401594
★☆☆☆☆
Found in Text Mining only
Dysarthria Dysarthria HPO_DG
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Endometrial neoplasm Pubtator 40244177 Associate
★☆☆☆☆
Found in Text Mining only
Hyperglycemia Hyperglycemia BEFREE 29720183
★☆☆☆☆
Found in Text Mining only