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FADS1 (fatty acid desaturase 1)

Identity

Alias_namesLLCDL1
Alias_symbol (synonym)D5D
FADSD5
TU12
FADS6
Other alias
HGNC (Hugo) FADS1
LocusID (NCBI) 3992
Atlas_Id 55715
Location 11q12.2  [Link to chromosome band 11q12]
Location_base_pair Starts at 61799625 and ends at 61817057 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)
FADS1 (11q12.2) / CLDN1 (3q28)FADS1 (11q12.2) / FADS1 (11q12.2)FADS1 (11q12.2) / TGOLN2 (2p11.2)
FADS1 (11q12.2) / VGLL3 (3p12.1)FADS1 (11q12.2) / YWHAE (17p13.3)LOC440944 () / FADS1 (11q12.2)

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) [ 1 ]
  t(11;11)(q12;q13) FADS1/SHANK2

External links

Nomenclature
HGNC (Hugo)FADS1   3574
Cards
Entrez_Gene (NCBI)FADS1  3992  fatty acid desaturase 1
AliasesD5D; FADS6; FADSD5; LLCDL1; 
TU12
GeneCards (Weizmann)FADS1
Ensembl hg19 (Hinxton)ENSG00000149485 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000149485 [Gene_View]  ENSG00000149485 [Sequence]  chr11:61799625-61817057 [Contig_View]  FADS1 [Vega]
ICGC DataPortalENSG00000149485
TCGA cBioPortalFADS1
AceView (NCBI)FADS1
Genatlas (Paris)FADS1
WikiGenes3992
SOURCE (Princeton)FADS1
Genetics Home Reference (NIH)FADS1
Genomic and cartography
GoldenPath hg38 (UCSC)FADS1  -     chr11:61799625-61817057 -  11q12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FADS1  -     11q12.2   [Description]    (hg19-Feb_2009)
GoldenPathFADS1 - 11q12.2 [CytoView hg19]  FADS1 - 11q12.2 [CytoView hg38]
ImmunoBaseENSG00000149485
Mapping of homologs : NCBIFADS1 [Mapview hg19]  FADS1 [Mapview hg38]
OMIM606148   
Gene and transcription
Genbank (Entrez)AF035284 AF084558 AF199596 AF226273 AF271778
RefSeq transcript (Entrez)NM_013402
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FADS1
Cluster EST : UnigeneHs.503546 [ NCBI ]
CGAP (NCI)Hs.503546
Alternative Splicing GalleryENSG00000149485
Gene ExpressionFADS1 [ NCBI-GEO ]   FADS1 [ EBI - ARRAY_EXPRESS ]   FADS1 [ SEEK ]   FADS1 [ MEM ]
Gene Expression Viewer (FireBrowse)FADS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3992
GTEX Portal (Tissue expression)FADS1
Human Protein AtlasENSG00000149485-FADS1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60427   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60427  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60427
Splice isoforms : SwissVarO60427
Catalytic activity : Enzyme1.14.19.3 [ Enzyme-Expasy ]   1.14.19.31.14.19.3 [ IntEnz-EBI ]   1.14.19.3 [ BRENDA ]   1.14.19.3 [ KEGG ]   
PhosPhoSitePlusO60427
Domaine pattern : Prosite (Expaxy)CYTOCHROME_B5_2 (PS50255)   
Domains : Interpro (EBI)Cyt_B5-like_heme/steroid-bd    Cyt_B5-like_heme/steroid_sf    FA_desaturase_dom    Fatty_acid_desaturase   
Domain families : Pfam (Sanger)Cyt-b5 (PF00173)    FA_desaturase (PF00487)   
Domain families : Pfam (NCBI)pfam00173    pfam00487   
Domain families : Smart (EMBL)Cyt-b5 (SM01117)  
Conserved Domain (NCBI)FADS1
DMDM Disease mutations3992
Blocks (Seattle)FADS1
SuperfamilyO60427
Human Protein Atlas [tissue]ENSG00000149485-FADS1 [tissue]
Peptide AtlasO60427
HPRD06935
IPIIPI00385842   IPI01013054   IPI00784651   IPI00926423   IPI00926565   IPI00925955   IPI00926079   IPI00981189   IPI01014362   IPI01013057   IPI01012051   IPI01012517   IPI01011197   IPI01011456   IPI01011476   IPI01010217   IPI01010629   IPI01009164   IPI01009602   
Protein Interaction databases
DIP (DOE-UCLA)O60427
IntAct (EBI)O60427
FunCoupENSG00000149485
BioGRIDFADS1
STRING (EMBL)FADS1
ZODIACFADS1
Ontologies - Pathways
QuickGOO60427
Ontology : AmiGOC-5 sterol desaturase activity  mitochondrion  endoplasmic reticulum membrane  regulation of transcription, DNA-templated  unsaturated fatty acid biosynthetic process  unsaturated fatty acid biosynthetic process  cell-cell signaling  phospholipid biosynthetic process  cellular response to starvation  membrane  membrane  integral component of membrane  oxidoreductase activity  regulation of lipid metabolic process  alpha-linolenic acid metabolic process  intracellular membrane-bounded organelle  linoleic acid metabolic process  omega-6 fatty acid desaturase activity  regulation of cell differentiation  icosanoid biosynthetic process  oxidation-reduction process  
Ontology : EGO-EBIC-5 sterol desaturase activity  mitochondrion  endoplasmic reticulum membrane  regulation of transcription, DNA-templated  unsaturated fatty acid biosynthetic process  unsaturated fatty acid biosynthetic process  cell-cell signaling  phospholipid biosynthetic process  cellular response to starvation  membrane  membrane  integral component of membrane  oxidoreductase activity  regulation of lipid metabolic process  alpha-linolenic acid metabolic process  intracellular membrane-bounded organelle  linoleic acid metabolic process  omega-6 fatty acid desaturase activity  regulation of cell differentiation  icosanoid biosynthetic process  oxidation-reduction process  
Pathways : KEGGBiosynthesis of unsaturated fatty acids   
NDEx NetworkFADS1
Atlas of Cancer Signalling NetworkFADS1
Wikipedia pathwaysFADS1
Orthology - Evolution
OrthoDB3992
GeneTree (enSembl)ENSG00000149485
Phylogenetic Trees/Animal Genes : TreeFamFADS1
HOGENOMO60427
Homologs : HomoloGeneFADS1
Homology/Alignments : Family Browser (UCSC)FADS1
Gene fusions - Rearrangements
Fusion : QuiverFADS1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFADS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FADS1
dbVarFADS1
ClinVarFADS1
1000_GenomesFADS1 
Exome Variant ServerFADS1
ExAC (Exome Aggregation Consortium)ENSG00000149485
GNOMAD BrowserENSG00000149485
Varsome BrowserFADS1
Genetic variants : HAPMAP3992
Genomic Variants (DGV)FADS1 [DGVbeta]
DECIPHERFADS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFADS1 
Mutations
ICGC Data PortalFADS1 
TCGA Data PortalFADS1 
Broad Tumor PortalFADS1
OASIS PortalFADS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFADS1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DFADS1
Mutations and Diseases : HGMDFADS1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch FADS1
DgiDB (Drug Gene Interaction Database)FADS1
DoCM (Curated mutations)FADS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FADS1 (select a term)
intoGenFADS1
Cancer3DFADS1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606148   
Orphanet
DisGeNETFADS1
MedgenFADS1
Genetic Testing Registry FADS1
NextProtO60427 [Medical]
TSGene3992
GENETestsFADS1
Target ValidationFADS1
Huge Navigator FADS1 [HugePedia]
snp3D : Map Gene to Disease3992
BioCentury BCIQFADS1
ClinGenFADS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3992
Chemical/Pharm GKB GenePA27973
Clinical trialFADS1
Miscellaneous
canSAR (ICR)FADS1 (select the gene name)
DataMed IndexFADS1
Probes
Litterature
PubMed181 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFADS1
EVEXFADS1
GoPubMedFADS1
iHOPFADS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 17:42:41 CET 2019
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