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ELOVL5 (ELOVL fatty acid elongase 5)

Identity

Other aliasHELO1
SCA38
dJ483K16.1
HGNC (Hugo) ELOVL5
LocusID (NCBI) 60481
Atlas_Id 57253
Location 6p12.1  [Link to chromosome band 6p12]
Location_base_pair Starts at 53267398 and ends at 53349179 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CYBA (16q24.3) / ELOVL5 (6p12.1)DDX5 (17q23.3) / ELOVL5 (6p12.1)ELOVL5 (6p12.1) / FAR1 (11p15.2)
ELOVL5 (6p12.1) / HMGCLL1 (6p12.1)ELOVL5 (6p12.1) / SGIP1 (1p31.3)MTERF1 (7q21.2) / ELOVL5 (6p12.1)
USF1 (1q23.3) / ELOVL5 (6p12.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  ELOVL5/HMGCLL1 (6p12)
t(6;11)(p12;p15) ELOVL5/FAR1


External links

Nomenclature
HGNC (Hugo)ELOVL5   21308
Cards
Entrez_Gene (NCBI)ELOVL5  60481  ELOVL fatty acid elongase 5
AliasesHELO1; SCA38; dJ483K16.1
GeneCards (Weizmann)ELOVL5
Ensembl hg19 (Hinxton)ENSG00000012660 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000012660 [Gene_View]  ENSG00000012660 [Sequence]  chr6:53267398-53349179 [Contig_View]  ELOVL5 [Vega]
ICGC DataPortalENSG00000012660
TCGA cBioPortalELOVL5
AceView (NCBI)ELOVL5
Genatlas (Paris)ELOVL5
WikiGenes60481
SOURCE (Princeton)ELOVL5
Genetics Home Reference (NIH)ELOVL5
Genomic and cartography
GoldenPath hg38 (UCSC)ELOVL5  -     chr6:53267398-53349179 -  6p12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ELOVL5  -     6p12.1   [Description]    (hg19-Feb_2009)
EnsemblELOVL5 - 6p12.1 [CytoView hg19]  ELOVL5 - 6p12.1 [CytoView hg38]
Mapping of homologs : NCBIELOVL5 [Mapview hg19]  ELOVL5 [Mapview hg38]
OMIM611805   615957   
Gene and transcription
Genbank (Entrez)AB209798 AF052129 AF111849 AF231981 AF338241
RefSeq transcript (Entrez)NM_001242828 NM_001242830 NM_001242831 NM_001301856 NM_021814
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ELOVL5
Cluster EST : UnigeneHs.520189 [ NCBI ]
CGAP (NCI)Hs.520189
Alternative Splicing GalleryENSG00000012660
Gene ExpressionELOVL5 [ NCBI-GEO ]   ELOVL5 [ EBI - ARRAY_EXPRESS ]   ELOVL5 [ SEEK ]   ELOVL5 [ MEM ]
Gene Expression Viewer (FireBrowse)ELOVL5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)60481
GTEX Portal (Tissue expression)ELOVL5
Human Protein AtlasENSG00000012660-ELOVL5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NYP7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NYP7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NYP7
Splice isoforms : SwissVarQ9NYP7
PhosPhoSitePlusQ9NYP7
Domains : Interpro (EBI)ELO_fam    ELOVL5   
Domain families : Pfam (Sanger)ELO (PF01151)   
Domain families : Pfam (NCBI)pfam01151   
Conserved Domain (NCBI)ELOVL5
DMDM Disease mutations60481
Blocks (Seattle)ELOVL5
SuperfamilyQ9NYP7
Human Protein Atlas [tissue]ENSG00000012660-ELOVL5 [tissue]
Peptide AtlasQ9NYP7
IPIIPI00328307   IPI00910962   IPI01009951   IPI00513972   
Protein Interaction databases
DIP (DOE-UCLA)Q9NYP7
IntAct (EBI)Q9NYP7
FunCoupENSG00000012660
BioGRIDELOVL5
STRING (EMBL)ELOVL5
ZODIACELOVL5
Ontologies - Pathways
QuickGOQ9NYP7
Ontology : AmiGOprotein binding  endoplasmic reticulum  endoplasmic reticulum membrane  unsaturated fatty acid biosynthetic process  fatty acid elongase activity  fatty acid elongase activity  fatty acid elongase activity  membrane  fatty acid elongation, saturated fatty acid  sphingolipid biosynthetic process  integral component of endoplasmic reticulum membrane  dendrite  fatty acid elongation, monounsaturated fatty acid  fatty acid elongation, monounsaturated fatty acid  fatty acid elongation, polyunsaturated fatty acid  fatty acid elongation, polyunsaturated fatty acid  long-chain fatty-acyl-CoA biosynthetic process  alpha-linolenic acid metabolic process  very long-chain fatty acid biosynthetic process  very long-chain fatty acid biosynthetic process  neuronal cell body  linoleic acid metabolic process  positive regulation of fatty acid biosynthetic process  dendritic tree  3-oxo-arachidoyl-CoA synthase activity  3-oxo-cerotoyl-CoA synthase activity  3-oxo-lignoceronyl-CoA synthase activity  very-long-chain 3-ketoacyl-CoA synthase activity  
Ontology : EGO-EBIprotein binding  endoplasmic reticulum  endoplasmic reticulum membrane  unsaturated fatty acid biosynthetic process  fatty acid elongase activity  fatty acid elongase activity  fatty acid elongase activity  membrane  fatty acid elongation, saturated fatty acid  sphingolipid biosynthetic process  integral component of endoplasmic reticulum membrane  dendrite  fatty acid elongation, monounsaturated fatty acid  fatty acid elongation, monounsaturated fatty acid  fatty acid elongation, polyunsaturated fatty acid  fatty acid elongation, polyunsaturated fatty acid  long-chain fatty-acyl-CoA biosynthetic process  alpha-linolenic acid metabolic process  very long-chain fatty acid biosynthetic process  very long-chain fatty acid biosynthetic process  neuronal cell body  linoleic acid metabolic process  positive regulation of fatty acid biosynthetic process  dendritic tree  3-oxo-arachidoyl-CoA synthase activity  3-oxo-cerotoyl-CoA synthase activity  3-oxo-lignoceronyl-CoA synthase activity  very-long-chain 3-ketoacyl-CoA synthase activity  
Pathways : KEGGFatty acid elongation    Biosynthesis of unsaturated fatty acids   
NDEx NetworkELOVL5
Atlas of Cancer Signalling NetworkELOVL5
Wikipedia pathwaysELOVL5
Orthology - Evolution
OrthoDB60481
GeneTree (enSembl)ENSG00000012660
Phylogenetic Trees/Animal Genes : TreeFamELOVL5
HOVERGENQ9NYP7
HOGENOMQ9NYP7
Homologs : HomoloGeneELOVL5
Homology/Alignments : Family Browser (UCSC)ELOVL5
Gene fusions - Rearrangements
Fusion : QuiverELOVL5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerELOVL5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ELOVL5
dbVarELOVL5
ClinVarELOVL5
1000_GenomesELOVL5 
Exome Variant ServerELOVL5
ExAC (Exome Aggregation Consortium)ENSG00000012660
GNOMAD BrowserENSG00000012660
Varsome BrowserELOVL5
Genetic variants : HAPMAP60481
Genomic Variants (DGV)ELOVL5 [DGVbeta]
DECIPHERELOVL5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisELOVL5 
Mutations
ICGC Data PortalELOVL5 
TCGA Data PortalELOVL5 
Broad Tumor PortalELOVL5
OASIS PortalELOVL5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICELOVL5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDELOVL5
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ELOVL5
DgiDB (Drug Gene Interaction Database)ELOVL5
DoCM (Curated mutations)ELOVL5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ELOVL5 (select a term)
intoGenELOVL5
Cancer3DELOVL5(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611805    615957   
Orphanet
DisGeNETELOVL5
MedgenELOVL5
Genetic Testing Registry ELOVL5
NextProtQ9NYP7 [Medical]
TSGene60481
GENETestsELOVL5
Target ValidationELOVL5
Huge Navigator ELOVL5 [HugePedia]
snp3D : Map Gene to Disease60481
BioCentury BCIQELOVL5
ClinGenELOVL5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD60481
Chemical/Pharm GKB GenePA128394703
Clinical trialELOVL5
Miscellaneous
canSAR (ICR)ELOVL5 (select the gene name)
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineELOVL5
EVEXELOVL5
GoPubMedELOVL5
iHOPELOVL5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 11:04:29 CET 2018

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