Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HECTD1 (HECT domain E3 ubiquitin protein ligase 1)

Identity

Alias (NCBI)EULIR
HGNC (Hugo) HECTD1
HGNC Alias symbKIAA1131
HGNC Previous nameHECT domain containing E3 ubiquitin protein ligase 1
LocusID (NCBI) 25831
Atlas_Id 64227
Location 14q12  [Link to chromosome band 14q12]
Location_base_pair Starts at 31100117 and ends at 31207793 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)
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    HECT domain E3 ubiquitin protein ligase 1
AliasesEULIR
GeneCards (Weizmann)HECTD1
Ensembl hg19 (Hinxton)ENSG00000092148 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000092148 [Gene_View]  ENSG00000092148 [Sequence]  chr14:31100117-31207793 [Contig_View]  HECTD1 [Vega]
ICGC DataPortalENSG00000092148
TCGA cBioPortalHECTD1
AceView (NCBI)HECTD1
Genatlas (Paris)HECTD1
SOURCE (Princeton)HECTD1
Genetics Home Reference (NIH)HECTD1
Genomic and cartography
GoldenPath hg38 (UCSC)HECTD1  -     chr14:31100117-31207793 -  14q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HECTD1  -     14q12   [Description]    (hg19-Feb_2009)
GoldenPathHECTD1 - 14q12 [CytoView hg19]  HECTD1 - 14q12 [CytoView hg38]
ImmunoBaseENSG00000092148
Genome Data Viewer NCBIHECTD1 [Mapview hg19]  
OMIM618649   
Gene and transcription
Genbank (Entrez)AB032957 AK024847 AK095634 AK125788 AL110222
RefSeq transcript (Entrez)NM_015382
Consensus coding sequences : CCDS (NCBI)HECTD1
Gene ExpressionHECTD1 [ NCBI-GEO ]   HECTD1 [ EBI - ARRAY_EXPRESS ]   HECTD1 [ SEEK ]   HECTD1 [ MEM ]
Gene Expression Viewer (FireBrowse)HECTD1 [ Firebrowse - Broad ]
GenevisibleExpression of HECTD1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25831
GTEX Portal (Tissue expression)HECTD1
Human Protein AtlasENSG00000092148-HECTD1 [pathology]   [cell]   [tissue]
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
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    Ankyrin_rpt-contain_sf    ARM-like    ARM-type_fold    FKBP3_BTHB    Galactose-bd-like_sf    HECT_dom    Hect_E3_ubiquitin_ligase    Mib_Herc2    Mib_Herc2_sf    SUN_dom   
Domain families : Pfam (Sanger)Ank_2 (PF12796)    BTHB (PF18410)    HECT (PF00632)    MIB_HERC2 (PF06701)    Sad1_UNC (PF07738)   
Domain families : Pfam (NCBI)pfam12796    pfam18410    pfam00632    pfam06701    pfam07738   
Domain families : Smart (EMBL)ANK (SM00248)  HECTc (SM00119)  
Conserved Domain (NCBI)HECTD1
PDB (RSDB)2DK3    2LC3    3DKM   
PDB Europe2DK3    2LC3    3DKM   
PDB (PDBSum)2DK3    2LC3    3DKM   
PDB (IMB)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
AlphaFold pdb e-kbQ9ULT8   
Human Protein Atlas [tissue]ENSG00000092148-HECTD1 [tissue]
HPRD17098
Protein Interaction databases
DIP (DOE-UCLA)Q9ULT8
IntAct (EBI)Q9ULT8
BioGRIDHECTD1
STRING (EMBL)HECTD1
ZODIACHECTD1
Ontologies - Pathways
QuickGOQ9ULT8
Ontology : AmiGOnatural killer cell differentiation  neural tube closure  heart valve development  ventricular septum development  protein binding  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  aorta development  metal ion binding  anatomical structure development  protein autoubiquitination  trophoblast giant cell differentiation  ubiquitin protein ligase activity  protein K63-linked ubiquitination  negative regulation of protein localization to plasma membrane  
Ontology : EGO-EBInatural killer cell differentiation  neural tube closure  heart valve development  ventricular septum development  protein binding  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  aorta development  metal ion binding  anatomical structure development  protein autoubiquitination  trophoblast giant cell differentiation  ubiquitin protein ligase activity  protein K63-linked ubiquitination  negative regulation of protein localization to plasma membrane  
NDEx NetworkHECTD1
Atlas of Cancer Signalling NetworkHECTD1
Wikipedia pathwaysHECTD1
Orthology - Evolution
OrthoDB25831
GeneTree (enSembl)ENSG00000092148
Phylogenetic Trees/Animal Genes : TreeFamHECTD1
Homologs : HomoloGeneHECTD1
Homology/Alignments : Family Browser (UCSC)HECTD1
Gene fusions - Rearrangements
Fusion : QuiverHECTD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHECTD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HECTD1
dbVarHECTD1
ClinVarHECTD1
MonarchHECTD1
1000_GenomesHECTD1 
Exome Variant ServerHECTD1
GNOMAD BrowserENSG00000092148
Varsome BrowserHECTD1
ACMGHECTD1 variants
VarityQ9ULT8
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]  
Somatic Mutations in Cancer : COSMIC3DHECTD1
Mutations and Diseases : HGMDHECTD1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaHECTD1
DgiDB (Drug Gene Interaction Database)HECTD1
DoCM (Curated mutations)HECTD1
CIViC (Clinical Interpretations of Variants in Cancer)HECTD1
Cancer3DHECTD1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM618649   
Orphanet
DisGeNETHECTD1
MedgenHECTD1
Genetic Testing Registry HECTD1
NextProtQ9ULT8 [Medical]
GENETestsHECTD1
Target ValidationHECTD1
Huge Navigator HECTD1 [HugePedia]
ClinGenHECTD1
Clinical trials, drugs, therapy
MyCancerGenomeHECTD1
Protein Interactions : CTDHECTD1
Pharm GKB GenePA134989284
PharosQ9ULT8
Clinical trialHECTD1
Miscellaneous
canSAR (ICR)HECTD1
HarmonizomeHECTD1
ARCHS4HECTD1
DataMed IndexHECTD1
Probes
Litterature
PubMed64 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXHECTD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 13:21:48 CET 2022

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