Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HECTD1 (HECT domain E3 ubiquitin protein ligase 1)

Identity

Alias_namesHECT domain containing E3 ubiquitin protein ligase 1
Alias_symbol (synonym)KIAA1131
Other aliasEULIR
HGNC (Hugo) HECTD1
LocusID (NCBI) 25831
Atlas_Id 64227
Location 14q12  [Link to chromosome band 14q12]
Location_base_pair Starts at 31100115 and ends at 31207523 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
FBXO34 (14q22.3) / HECTD1 (14q12)HECTD1 (14q12) / EIF4G2 (11p15.3)HECTD1 (14q12) / HCFC1R1 (16p13.3)
HECTD1 (14q12) / PKNOX1 (21q22.3)HECTD1 (14q12) / PRPF39 (14q21.2)HECTD1 (14q12) / STK4 (20q13.12)
RSRC2 (12q24.31) / HECTD1 (14q12)

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

 


External links

Nomenclature
HGNC (Hugo)HECTD1   20157
Cards
Entrez_Gene (NCBI)HECTD1  25831  HECT domain E3 ubiquitin protein ligase 1
AliasesEULIR
GeneCards (Weizmann)HECTD1
Ensembl hg19 (Hinxton)ENSG00000092148 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000092148 [Gene_View]  chr14:31100115-31207523 [Contig_View]  HECTD1 [Vega]
ICGC DataPortalENSG00000092148
TCGA cBioPortalHECTD1
AceView (NCBI)HECTD1
Genatlas (Paris)HECTD1
WikiGenes25831
SOURCE (Princeton)HECTD1
Genetics Home Reference (NIH)HECTD1
Genomic and cartography
GoldenPath hg38 (UCSC)HECTD1  -     chr14:31100115-31207523 -  14q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HECTD1  -     14q12   [Description]    (hg19-Feb_2009)
EnsemblHECTD1 - 14q12 [CytoView hg19]  HECTD1 - 14q12 [CytoView hg38]
Mapping of homologs : NCBIHECTD1 [Mapview hg19]  HECTD1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB032957 AK024847 AK095634 AK125788 AL110222
RefSeq transcript (Entrez)NM_015382
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HECTD1
Cluster EST : UnigeneHs.708017 [ NCBI ]
CGAP (NCI)Hs.708017
Alternative Splicing GalleryENSG00000092148
Gene ExpressionHECTD1 [ NCBI-GEO ]   HECTD1 [ EBI - ARRAY_EXPRESS ]   HECTD1 [ SEEK ]   HECTD1 [ MEM ]
Gene Expression Viewer (FireBrowse)HECTD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25831
GTEX Portal (Tissue expression)HECTD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9ULT8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9ULT8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9ULT8
Splice isoforms : SwissVarQ9ULT8
Catalytic activity : Enzyme2.3.2.26 [ Enzyme-Expasy ]   2.3.2.262.3.2.26 [ IntEnz-EBI ]   2.3.2.26 [ BRENDA ]   2.3.2.26 [ KEGG ]   
PhosPhoSitePlusQ9ULT8
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    HECT (PS50237)    MIB_HERC2 (PS51416)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    ARM-like    ARM-type_fold    Galactose-bd-like    HECT_dom    Mib_Herc2    SUN_dom   
Domain families : Pfam (Sanger)Ank_2 (PF12796)    HECT (PF00632)    MIB_HERC2 (PF06701)    Sad1_UNC (PF07738)   
Domain families : Pfam (NCBI)pfam12796    pfam00632    pfam06701    pfam07738   
Domain families : Smart (EMBL)ANK (SM00248)  HECTc (SM00119)  
Conserved Domain (NCBI)HECTD1
DMDM Disease mutations25831
Blocks (Seattle)HECTD1
PDB (SRS)2DK3    2LC3    3DKM   
PDB (PDBSum)2DK3    2LC3    3DKM   
PDB (IMB)2DK3    2LC3    3DKM   
PDB (RSDB)2DK3    2LC3    3DKM   
Structural Biology KnowledgeBase2DK3    2LC3    3DKM   
SCOP (Structural Classification of Proteins)2DK3    2LC3    3DKM   
CATH (Classification of proteins structures)2DK3    2LC3    3DKM   
SuperfamilyQ9ULT8
Human Protein AtlasENSG00000092148
Peptide AtlasQ9ULT8
HPRD17098
IPIIPI00328911   IPI01024922   IPI01012032   IPI00409749   IPI01024739   IPI01024992   IPI01025128   IPI01025493   IPI00871372   IPI00952897   
Protein Interaction databases
DIP (DOE-UCLA)Q9ULT8
IntAct (EBI)Q9ULT8
FunCoupENSG00000092148
BioGRIDHECTD1
STRING (EMBL)HECTD1
ZODIACHECTD1
Ontologies - Pathways
QuickGOQ9ULT8
Ontology : AmiGOubiquitin-protein transferase activity  protein binding  protein ubiquitination  metal ion binding  
Ontology : EGO-EBIubiquitin-protein transferase activity  protein binding  protein ubiquitination  metal ion binding  
NDEx NetworkHECTD1
Atlas of Cancer Signalling NetworkHECTD1
Wikipedia pathwaysHECTD1
Orthology - Evolution
OrthoDB25831
GeneTree (enSembl)ENSG00000092148
Phylogenetic Trees/Animal Genes : TreeFamHECTD1
HOVERGENQ9ULT8
HOGENOMQ9ULT8
Homologs : HomoloGeneHECTD1
Homology/Alignments : Family Browser (UCSC)HECTD1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHECTD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HECTD1
dbVarHECTD1
ClinVarHECTD1
1000_GenomesHECTD1 
Exome Variant ServerHECTD1
ExAC (Exome Aggregation Consortium)HECTD1 (select the gene name)
Genetic variants : HAPMAP25831
Genomic Variants (DGV)HECTD1 [DGVbeta]
DECIPHERHECTD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHECTD1 
Mutations
ICGC Data PortalHECTD1 
TCGA Data PortalHECTD1 
Broad Tumor PortalHECTD1
OASIS PortalHECTD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHECTD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHECTD1
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 HECTD1
DgiDB (Drug Gene Interaction Database)HECTD1
DoCM (Curated mutations)HECTD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HECTD1 (select a term)
intoGenHECTD1
Cancer3DHECTD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenHECTD1
Genetic Testing Registry HECTD1
NextProtQ9ULT8 [Medical]
TSGene25831
GENETestsHECTD1
Target ValidationHECTD1
Huge Navigator HECTD1 [HugePedia]
snp3D : Map Gene to Disease25831
BioCentury BCIQHECTD1
ClinGenHECTD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD25831
Chemical/Pharm GKB GenePA134989284
Clinical trialHECTD1
Miscellaneous
canSAR (ICR)HECTD1 (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHECTD1
EVEXHECTD1
GoPubMedHECTD1
iHOPHECTD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:52:10 CEST 2017

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