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HERC1 (HECT and RLD domain containing E3 ubiquitin protein ligase family member 1)

Identity

Alias_nameshect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1
Alias_symbol (synonym)p532
p619
Other aliasMDFPMR
HGNC (Hugo) HERC1
LocusID (NCBI) 8925
Atlas_Id 43306
Location 15q22.31  [Link to chromosome band 15q22]
Location_base_pair Starts at 63608618 and ends at 63833948 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
HERC1 (15q22.31) / CLIC4 (1p36.11)HERC1 (15q22.31) / CSNK1G1 (15q22.31)HERC1 (15q22.31) / DAPK2 (15q22.31)
HERC1 (15q22.31) / FAM96A (15q22.31)HERC1 (15q22.31) / HERC1 (15q22.31)HERC1 (15q22.31) / KIAA0101 (15q22.31)
HERC1 (15q22.31) / USP3 (15q22.31)UBB (17p11.2) / HERC1 (15q22.31)HERC1 15q22.31 / CSNK1G1 15q22.31
HERC1 15q22.31 / DAPK2 15q22.31HERC1 15q22.31 / KIAA0101 15q22.31HERC1 15q22.31 / USP3 15q22.31

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)HERC1   4867
Cards
Entrez_Gene (NCBI)HERC1  8925  HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
AliasesMDFPMR; p532; p619
GeneCards (Weizmann)HERC1
Ensembl hg19 (Hinxton)ENSG00000103657 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000103657 [Gene_View]  chr15:63608618-63833948 [Contig_View]  HERC1 [Vega]
ICGC DataPortalENSG00000103657
TCGA cBioPortalHERC1
AceView (NCBI)HERC1
Genatlas (Paris)HERC1
WikiGenes8925
SOURCE (Princeton)HERC1
Genetics Home Reference (NIH)HERC1
Genomic and cartography
GoldenPath hg38 (UCSC)HERC1  -     chr15:63608618-63833948 -  15q22.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HERC1  -     15q22.31   [Description]    (hg19-Feb_2009)
EnsemblHERC1 - 15q22.31 [CytoView hg19]  HERC1 - 15q22.31 [CytoView hg38]
Mapping of homologs : NCBIHERC1 [Mapview hg19]  HERC1 [Mapview hg38]
OMIM605109   617011   
Gene and transcription
Genbank (Entrez)AF131824 AK091624 AK226162 AK296690 AK310519
RefSeq transcript (Entrez)NM_003922
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HERC1
Cluster EST : UnigeneHs.210385 [ NCBI ]
CGAP (NCI)Hs.210385
Alternative Splicing GalleryENSG00000103657
Gene ExpressionHERC1 [ NCBI-GEO ]   HERC1 [ EBI - ARRAY_EXPRESS ]   HERC1 [ SEEK ]   HERC1 [ MEM ]
Gene Expression Viewer (FireBrowse)HERC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8925
GTEX Portal (Tissue expression)HERC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15751   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15751  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15751
Splice isoforms : SwissVarQ15751
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 ]   
PhosPhoSitePlusQ15751
Domaine pattern : Prosite (Expaxy)B302_SPRY (PS50188)    HECT (PS50237)    RCC1_2 (PS00626)    RCC1_3 (PS50012)    WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)B30.2/SPRY    ConA-like_dom    HECT_dom    RCC1/BLIP-II    Reg_chr_condens    SPRY_dom    WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom   
Domain families : Pfam (Sanger)HECT (PF00632)    RCC1 (PF00415)    SPRY (PF00622)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam00632    pfam00415    pfam00622    pfam00400   
Domain families : Smart (EMBL)HECTc (SM00119)  SPRY (SM00449)  WD40 (SM00320)  
Conserved Domain (NCBI)HERC1
DMDM Disease mutations8925
Blocks (Seattle)HERC1
PDB (SRS)4O2W    4QT6   
PDB (PDBSum)4O2W    4QT6   
PDB (IMB)4O2W    4QT6   
PDB (RSDB)4O2W    4QT6   
Structural Biology KnowledgeBase4O2W    4QT6   
SCOP (Structural Classification of Proteins)4O2W    4QT6   
CATH (Classification of proteins structures)4O2W    4QT6   
SuperfamilyQ15751
Human Protein AtlasENSG00000103657
Peptide AtlasQ15751
HPRD06894
IPIIPI00908611   IPI00022479   
Protein Interaction databases
DIP (DOE-UCLA)Q15751
IntAct (EBI)Q15751
FunCoupENSG00000103657
BioGRIDHERC1
STRING (EMBL)HERC1
ZODIACHERC1
Ontologies - Pathways
QuickGOQ15751
Ontology : AmiGOubiquitin-protein transferase activity  ARF guanyl-nucleotide exchange factor activity  cytoplasm  Golgi apparatus  cytosol  transport  negative regulation of autophagy  membrane  protein ubiquitination  cerebellar Purkinje cell differentiation  neuron projection development  positive regulation of GTPase activity  neuromuscular process controlling balance  
Ontology : EGO-EBIubiquitin-protein transferase activity  ARF guanyl-nucleotide exchange factor activity  cytoplasm  Golgi apparatus  cytosol  transport  negative regulation of autophagy  membrane  protein ubiquitination  cerebellar Purkinje cell differentiation  neuron projection development  positive regulation of GTPase activity  neuromuscular process controlling balance  
Pathways : KEGGUbiquitin mediated proteolysis   
NDEx NetworkHERC1
Atlas of Cancer Signalling NetworkHERC1
Wikipedia pathwaysHERC1
Orthology - Evolution
OrthoDB8925
GeneTree (enSembl)ENSG00000103657
Phylogenetic Trees/Animal Genes : TreeFamHERC1
HOVERGENQ15751
HOGENOMQ15751
Homologs : HomoloGeneHERC1
Homology/Alignments : Family Browser (UCSC)HERC1
Gene fusions - Rearrangements
Fusion : MitelmanHERC1/CSNK1G1 [15q22.31/15q22.31]  
Fusion : MitelmanHERC1/DAPK2 [15q22.31/15q22.31]  [t(15;15)(q22;q22)]  
Fusion : MitelmanHERC1/KIAA0101 [15q22.31/15q22.31]  [t(15;15)(q22;q22)]  
Fusion : MitelmanHERC1/USP3 [15q22.31/15q22.31]  [t(15;15)(q22;q22)]  
Fusion: TCGAHERC1 15q22.31 CSNK1G1 15q22.31 BRCA
Fusion: TCGAHERC1 15q22.31 DAPK2 15q22.31 BLCA BRCA
Fusion: TCGAHERC1 15q22.31 KIAA0101 15q22.31 BRCA
Fusion: TCGAHERC1 15q22.31 USP3 15q22.31 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHERC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HERC1
dbVarHERC1
ClinVarHERC1
1000_GenomesHERC1 
Exome Variant ServerHERC1
ExAC (Exome Aggregation Consortium)HERC1 (select the gene name)
Genetic variants : HAPMAP8925
Genomic Variants (DGV)HERC1 [DGVbeta]
DECIPHERHERC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHERC1 
Mutations
ICGC Data PortalHERC1 
TCGA Data PortalHERC1 
Broad Tumor PortalHERC1
OASIS PortalHERC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHERC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHERC1
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 HERC1
DgiDB (Drug Gene Interaction Database)HERC1
DoCM (Curated mutations)HERC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HERC1 (select a term)
intoGenHERC1
Cancer3DHERC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605109    617011   
Orphanet23722   
MedgenHERC1
Genetic Testing Registry HERC1
NextProtQ15751 [Medical]
TSGene8925
GENETestsHERC1
Target ValidationHERC1
Huge Navigator HERC1 [HugePedia]
snp3D : Map Gene to Disease8925
BioCentury BCIQHERC1
ClinGenHERC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8925
Chemical/Pharm GKB GenePA29242
Clinical trialHERC1
Miscellaneous
canSAR (ICR)HERC1 (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHERC1
EVEXHERC1
GoPubMedHERC1
iHOPHERC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:11:19 CEST 2017

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