Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64834
Gene name Gene Name - the full gene name approved by the HGNC.
ELOVL fatty acid elongase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ELOVL1
Synonyms (NCBI Gene) Gene synonyms aliases
CGI-88, IKSHD, Ssc1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IKSHD
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p34.2
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20937905
GO:0005783 Component Endoplasmic reticulum IDA 20937905
GO:0005789 Component Endoplasmic reticulum membrane TAS
GO:0006636 Process Unsaturated fatty acid biosynthetic process IEA
GO:0009922 Function Fatty acid elongase activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611813 14418 ENSG00000066322
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Acanthosis nigricans Acanthosis Nigricans ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Adrenoleukodystrophy Associate 20166112, 22911730, 26581106
Colorectal Neoplasms Associate 28214830, 33731797
Endometrial Neoplasms Associate 40244177
Mitochondrial Diseases Associate 22544056
Nerve Degeneration Associate 31393881
Papillomavirus Infections Associate 32164487
Parkinson Disease Associate 22544056
Respiratory Insufficiency Associate 22544056
Squamous Cell Carcinoma of Head and Neck Associate 38011007
Tn Syndrome Stimulate 28851309