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HUWE1 (HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase)

Identity

Alias_namesHECT
Alias_symbol (synonym)Ib772
KIAA0312
UREB1
Other aliasARF-BP1
HECTH9
HSPC272
LASU1
MULE
URE-B1
HGNC (Hugo) HUWE1
LocusID (NCBI) 10075
Atlas_Id 42770
Location Xp11.22  [Link to chromosome band Xp11]
Location_base_pair Starts at 53532096 and ends at 53686729 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ANKRD11 (16q24.3) / HUWE1 (Xp11.22)C6 (5p13.1) / HUWE1 (Xp11.22)CHCHD3 (7q32.3) / HUWE1 (Xp11.22)
GOLGA3 (12q24.33) / HUWE1 (Xp11.22)HUWE1 (Xp11.22) / ATP5A1 (18q21.1)HUWE1 (Xp11.22) / CLCN5 (Xp11.22)
HUWE1 (Xp11.22) / GUF1 (4p12)HUWE1 (Xp11.22) / HUWE1 (Xp11.22)HUWE1 (Xp11.22) / PHF8 (Xp11.22)
HUWE1 (Xp11.22) / PIGT (20q13.12)HUWE1 (Xp11.22) / PLXNA2 (1q32.2)HUWE1 (Xp11.22) / SYN3 (22q12.3)
HUWE1 (Xp11.22) / TMEM229B (14q24.1)RAP1B (12q15) / HUWE1 (Xp11.22)HUWE1 Xp11.22 / CLCN5 Xp11.22
HUWE1 Xp11.22 / GUF1 4p12HUWE1 Xp11.22 / PHF8 Xp11.22

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)HUWE1   30892
Cards
Entrez_Gene (NCBI)HUWE1  10075  HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
AliasesARF-BP1; HECTH9; HSPC272; Ib772; 
LASU1; MULE; URE-B1; UREB1
GeneCards (Weizmann)HUWE1
Ensembl hg19 (Hinxton)ENSG00000086758 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000086758 [Gene_View]  chrX:53532096-53686729 [Contig_View]  HUWE1 [Vega]
ICGC DataPortalENSG00000086758
TCGA cBioPortalHUWE1
AceView (NCBI)HUWE1
Genatlas (Paris)HUWE1
WikiGenes10075
SOURCE (Princeton)HUWE1
Genetics Home Reference (NIH)HUWE1
Genomic and cartography
GoldenPath hg38 (UCSC)HUWE1  -     chrX:53532096-53686729 -  Xp11.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HUWE1  -     Xp11.22   [Description]    (hg19-Feb_2009)
EnsemblHUWE1 - Xp11.22 [CytoView hg19]  HUWE1 - Xp11.22 [CytoView hg38]
Mapping of homologs : NCBIHUWE1 [Mapview hg19]  HUWE1 [Mapview hg38]
OMIM300697   300706   
Gene and transcription
Genbank (Entrez)AB002310 AB071605 AF057569 AF161390 AK056671
RefSeq transcript (Entrez)NM_031407
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HUWE1
Cluster EST : UnigeneHs.136905 [ NCBI ]
CGAP (NCI)Hs.136905
Alternative Splicing GalleryENSG00000086758
Gene ExpressionHUWE1 [ NCBI-GEO ]   HUWE1 [ EBI - ARRAY_EXPRESS ]   HUWE1 [ SEEK ]   HUWE1 [ MEM ]
Gene Expression Viewer (FireBrowse)HUWE1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10075
GTEX Portal (Tissue expression)HUWE1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z6Z7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z6Z7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z6Z7
Splice isoforms : SwissVarQ7Z6Z7
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 ]   
PhosPhoSitePlusQ7Z6Z7
Domaine pattern : Prosite (Expaxy)HECT (PS50237)    UBA (PS50030)    WWE (PS50918)   
Domains : Interpro (EBI)ARM-type_fold    DUF4414    E3_Ub_ligase_DUF908    E3_Ub_ligase_DUF913    HECT_dom    UBA    UBA-like    WWE-dom   
Domain families : Pfam (Sanger)DUF4414 (PF14377)    DUF908 (PF06012)    DUF913 (PF06025)    HECT (PF00632)    UBA (PF00627)    WWE (PF02825)   
Domain families : Pfam (NCBI)pfam14377    pfam06012    pfam06025    pfam00632    pfam00627    pfam02825   
Domain families : Smart (EMBL)HECTc (SM00119)  UBA (SM00165)  
Conserved Domain (NCBI)HUWE1
DMDM Disease mutations10075
Blocks (Seattle)HUWE1
PDB (SRS)2EKK    2MUL    3G1N    3H1D    5C6H   
PDB (PDBSum)2EKK    2MUL    3G1N    3H1D    5C6H   
PDB (IMB)2EKK    2MUL    3G1N    3H1D    5C6H   
PDB (RSDB)2EKK    2MUL    3G1N    3H1D    5C6H   
Structural Biology KnowledgeBase2EKK    2MUL    3G1N    3H1D    5C6H   
SCOP (Structural Classification of Proteins)2EKK    2MUL    3G1N    3H1D    5C6H   
CATH (Classification of proteins structures)2EKK    2MUL    3G1N    3H1D    5C6H   
SuperfamilyQ7Z6Z7
Human Protein AtlasENSG00000086758
Peptide AtlasQ7Z6Z7
HPRD06608
IPIIPI00445401   IPI00643153   IPI00179298   IPI00872822   IPI00646975   IPI00014402   IPI00746059   IPI01011389   IPI00642197   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z6Z7
IntAct (EBI)Q7Z6Z7
FunCoupENSG00000086758
BioGRIDHUWE1
STRING (EMBL)HUWE1
ZODIACHUWE1
Ontologies - Pathways
QuickGOQ7Z6Z7
Ontology : AmiGOprotein polyubiquitination  protein polyubiquitination  DNA binding  RNA binding  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  protein binding  extracellular region  nucleus  nucleoplasm  cytoplasm  cytosol  cytosol  base-excision repair  protein monoubiquitination  membrane  histone ubiquitination  cell differentiation  secretory granule lumen  neutrophil degranulation  extracellular exosome  positive regulation of protein targeting to mitochondrion  ficolin-1-rich granule lumen  
Ontology : EGO-EBIprotein polyubiquitination  protein polyubiquitination  DNA binding  RNA binding  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  protein binding  extracellular region  nucleus  nucleoplasm  cytoplasm  cytosol  cytosol  base-excision repair  protein monoubiquitination  membrane  histone ubiquitination  cell differentiation  secretory granule lumen  neutrophil degranulation  extracellular exosome  positive regulation of protein targeting to mitochondrion  ficolin-1-rich granule lumen  
Pathways : KEGGUbiquitin mediated proteolysis   
NDEx NetworkHUWE1
Atlas of Cancer Signalling NetworkHUWE1
Wikipedia pathwaysHUWE1
Orthology - Evolution
OrthoDB10075
GeneTree (enSembl)ENSG00000086758
Phylogenetic Trees/Animal Genes : TreeFamHUWE1
HOVERGENQ7Z6Z7
HOGENOMQ7Z6Z7
Homologs : HomoloGeneHUWE1
Homology/Alignments : Family Browser (UCSC)HUWE1
Gene fusions - Rearrangements
Fusion : MitelmanHUWE1/CLCN5 [Xp11.22/Xp11.22]  
Fusion : MitelmanHUWE1/GUF1 [Xp11.22/4p12]  [t(X;4)(p11;p12)]  
Fusion : MitelmanHUWE1/PHF8 [Xp11.22/Xp11.22]  [t(X;X)(p11;p11)]  
Fusion: TCGAHUWE1 Xp11.22 CLCN5 Xp11.22 OV
Fusion: TCGAHUWE1 Xp11.22 GUF1 4p12 HNSC
Fusion: TCGAHUWE1 Xp11.22 PHF8 Xp11.22 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHUWE1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HUWE1
dbVarHUWE1
ClinVarHUWE1
1000_GenomesHUWE1 
Exome Variant ServerHUWE1
ExAC (Exome Aggregation Consortium)HUWE1 (select the gene name)
Genetic variants : HAPMAP10075
Genomic Variants (DGV)HUWE1 [DGVbeta]
DECIPHERHUWE1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHUWE1 
Mutations
ICGC Data PortalHUWE1 
TCGA Data PortalHUWE1 
Broad Tumor PortalHUWE1
OASIS PortalHUWE1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHUWE1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHUWE1
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
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch HUWE1
DgiDB (Drug Gene Interaction Database)HUWE1
DoCM (Curated mutations)HUWE1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HUWE1 (select a term)
intoGenHUWE1
Cancer3DHUWE1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300697    300706   
Orphanet11698   
MedgenHUWE1
Genetic Testing Registry HUWE1
NextProtQ7Z6Z7 [Medical]
TSGene10075
GENETestsHUWE1
Target ValidationHUWE1
Huge Navigator HUWE1 [HugePedia]
snp3D : Map Gene to Disease10075
BioCentury BCIQHUWE1
ClinGenHUWE1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10075
Chemical/Pharm GKB GenePA128394567
Clinical trialHUWE1
Miscellaneous
canSAR (ICR)HUWE1 (select the gene name)
Probes
Litterature
PubMed135 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHUWE1
EVEXHUWE1
GoPubMedHUWE1
iHOPHUWE1
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 Aug 1 17:03:35 CEST 2017

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