Gene Gene information from NCBI Gene database.
Entrez ID 79993
Gene name ELOVL fatty acid elongase 7
Gene symbol ELOVL7
Synonyms (NCBI Gene)
-
Chromosome 5
Chromosome location 5q12.1
miRNA miRNA information provided by mirtarbase database.
440
miRTarBase ID miRNA Experiments Reference
MIRT030779 hsa-miR-21-5p Microarray 18591254
MIRT720742 hsa-miR-6732-3p HITS-CLIP 19536157
MIRT720741 hsa-miR-10a-5p HITS-CLIP 19536157
MIRT720740 hsa-miR-10b-5p HITS-CLIP 19536157
MIRT720739 hsa-miR-6849-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20937905, 25416956, 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.
MIM HGNC e!Ensembl
614451 26292 ENSG00000164181
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A1L3X0
Protein name Very long chain fatty acid elongase 7 (EC 2.3.1.199) (3-keto acyl-CoA synthase ELOVL7) (ELOVL fatty acid elongase 7) (ELOVL FA elongase 7) (Elongation of very long chain fatty acids protein 7) (Very long chain 3-ketoacyl-CoA synthase 7) (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. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very
PDB 6Y7F
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01151 ELO 29 269 GNS1/SUR4 family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in most tissues except heart and skeletal muscle. {ECO:0000269|PubMed:20937905}.
Sequence
Sequence length 281
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
  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)
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MULTIPLE SYSTEM ATROPHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE GWAS catalog
★★☆☆☆
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
Crohn Disease Crohn disease Pubtator 33750834 Associate
★☆☆☆☆
Found in Text Mining only
Fatty Liver Fatty liver Pubtator 36930494 Stimulate
★☆☆☆☆
Found in Text Mining only
Hepatitis Alcoholic Alcoholic hepatitis Pubtator 40649881 Associate
★☆☆☆☆
Found in Text Mining only
Hepatitis B Hepatitis b Pubtator 36930494 Stimulate
★☆☆☆☆
Found in Text Mining only
Hidradenitis Suppurativa Hidradenitis suppurativa BEFREE 26422515
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Inflammatory Bowel Disease BEFREE 26422515
★☆☆☆☆
Found in Text Mining only
Liver Cirrhosis Liver cirrhosis Pubtator 36930494 Associate
★☆☆☆☆
Found in Text Mining only
Liver Failure Liver failure Pubtator 36930494 Stimulate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 19826053
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 19826053, 26408707, 29059155
★☆☆☆☆
Found in Text Mining only