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ITCH (itchy E3 ubiquitin protein ligase)

Identity

Alias_namesitchy (mouse homolog) E3 ubiquitin protein ligase
itchy E3 ubiquitin protein ligase homolog (mouse)
Alias_symbol (synonym)AIP4
Other aliasADMFD
AIF4
NAPP1
HGNC (Hugo) ITCH
LocusID (NCBI) 83737
Atlas_Id 43875
Location 20q11.22  [Link to chromosome band 20q11]
Location_base_pair Starts at 34363235 and ends at 34511773 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AXIN1 (16p13.3) / ITCH (20q11.22)DHX35 (20q11.23) / ITCH (20q11.22)ITCH (20q11.22) / AHCY (20q11.22)
ITCH (20q11.22) / ASIP (20q11.22)ITCH (20q11.22) / DEFB118 (20q11.21)ITCH (20q11.22) / DYNLRB1 (20q11.22)
ITCH (20q11.22) / MYL9 (20q11.23)ITCH (20q11.22) / PIGU (20q11.22)ITCH (20q11.22) / RALY (20q11.22)
ITCH (20q11.22) / TAB1 (22q13.1)ITCH (20q11.22) / TSHZ2 (20q13.2)OAT (10q26.13) / ITCH (20q11.22)
PPM1H (12q14.1) / ITCH (20q11.22)PSPH (7p11.2) / ITCH (20q11.22)TSC22D1 (13q14.11) / ITCH (20q11.22)
AXIN1 16p13.3 / ITCH 20q11.22ITCH 20q11.22 / AHCY 20q11.22ITCH 20q11.22 / ASIP 20q11.22
ITCH 20q11.22 / DEFB118 20q11.21ITCH 20q11.22 / MYL9 20q11.23ITCH 20q11.22 / PIGU 20q11.22
ITCH 20q11.22 / RALY 20q11.22ITCH 20q11.22 / TAB1 22q13.1ITCH 20q11.22 / TSHZ2 20q13.2

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

 


External links

Nomenclature
HGNC (Hugo)ITCH   13890
LRG (Locus Reference Genomic)LRG_354
Cards
Entrez_Gene (NCBI)ITCH  83737  itchy E3 ubiquitin protein ligase
AliasesADMFD; AIF4; AIP4; NAPP1
GeneCards (Weizmann)ITCH
Ensembl hg19 (Hinxton)ENSG00000078747 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000078747 [Gene_View]  chr20:34363235-34511773 [Contig_View]  ITCH [Vega]
ICGC DataPortalENSG00000078747
TCGA cBioPortalITCH
AceView (NCBI)ITCH
Genatlas (Paris)ITCH
WikiGenes83737
SOURCE (Princeton)ITCH
Genetics Home Reference (NIH)ITCH
Genomic and cartography
GoldenPath hg38 (UCSC)ITCH  -     chr20:34363235-34511773 +  20q11.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ITCH  -     20q11.22   [Description]    (hg19-Feb_2009)
EnsemblITCH - 20q11.22 [CytoView hg19]  ITCH - 20q11.22 [CytoView hg38]
Mapping of homologs : NCBIITCH [Mapview hg19]  ITCH [Mapview hg38]
OMIM606409   613385   
Gene and transcription
Genbank (Entrez)AA730741 AB056663 AB209747 AF038564 AF095745
RefSeq transcript (Entrez)NM_001257137 NM_001257138 NM_001324197 NM_001324198 NM_031483
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ITCH
Cluster EST : UnigeneHs.632272 [ NCBI ]
CGAP (NCI)Hs.632272
Alternative Splicing GalleryENSG00000078747
Gene ExpressionITCH [ NCBI-GEO ]   ITCH [ EBI - ARRAY_EXPRESS ]   ITCH [ SEEK ]   ITCH [ MEM ]
Gene Expression Viewer (FireBrowse)ITCH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83737
GTEX Portal (Tissue expression)ITCH
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96J02   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96J02  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96J02
Splice isoforms : SwissVarQ96J02
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 ]   
PhosPhoSitePlusQ96J02
Domaine pattern : Prosite (Expaxy)C2 (PS50004)    HECT (PS50237)    WW_DOMAIN_1 (PS01159)    WW_DOMAIN_2 (PS50020)   
Domains : Interpro (EBI)C2_dom    HECT_dom    WW_dom   
Domain families : Pfam (Sanger)C2 (PF00168)    HECT (PF00632)    WW (PF00397)   
Domain families : Pfam (NCBI)pfam00168    pfam00632    pfam00397   
Domain families : Smart (EMBL)C2 (SM00239)  HECTc (SM00119)  WW (SM00456)  
Conserved Domain (NCBI)ITCH
DMDM Disease mutations83737
Blocks (Seattle)ITCH
PDB (SRS)2DMV    2KYK    2NQ3    2P4R    2YSF    3TUG    4ROF    5C7M    5CQ2    5DWS    5DZD   
PDB (PDBSum)2DMV    2KYK    2NQ3    2P4R    2YSF    3TUG    4ROF    5C7M    5CQ2    5DWS    5DZD   
PDB (IMB)2DMV    2KYK    2NQ3    2P4R    2YSF    3TUG    4ROF    5C7M    5CQ2    5DWS    5DZD   
PDB (RSDB)2DMV    2KYK    2NQ3    2P4R    2YSF    3TUG    4ROF    5C7M    5CQ2    5DWS    5DZD   
Structural Biology KnowledgeBase2DMV    2KYK    2NQ3    2P4R    2YSF    3TUG    4ROF    5C7M    5CQ2    5DWS    5DZD   
SCOP (Structural Classification of Proteins)2DMV    2KYK    2NQ3    2P4R    2YSF    3TUG    4ROF    5C7M    5CQ2    5DWS    5DZD   
CATH (Classification of proteins structures)2DMV    2KYK    2NQ3    2P4R    2YSF    3TUG    4ROF    5C7M    5CQ2    5DWS    5DZD   
SuperfamilyQ96J02
Human Protein AtlasENSG00000078747
Peptide AtlasQ96J02
IPIIPI00061780   IPI00176010   IPI01010870   
Protein Interaction databases
DIP (DOE-UCLA)Q96J02
IntAct (EBI)Q96J02
FunCoupENSG00000078747
BioGRIDITCH
STRING (EMBL)ITCH
ZODIACITCH
Ontologies - Pathways
QuickGOQ96J02
Ontology : AmiGOregulation of cell growth  positive regulation of T cell anergy  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  protein binding  nucleoplasm  cytosol  plasma membrane  cell cortex  ubiquitin-dependent protein catabolic process  ubiquitin-dependent protein catabolic process  apoptotic process  inflammatory response  Notch signaling pathway  membrane  protein ubiquitination  ligase activity  ubiquitin-like protein transferase activity  cytoplasmic vesicle  negative regulation of NF-kappaB transcription factor activity  negative regulation of type I interferon production  protein K29-linked ubiquitination  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  ribonucleoprotein complex binding  negative regulation of apoptotic process  innate immune response  CXCR chemokine receptor binding  positive regulation of protein catabolic process  negative regulation of JNK cascade  negative regulation of alpha-beta T cell proliferation  viral entry into host cell  negative regulation of defense response to virus  defense response to virus  ubiquitin protein ligase activity  ubiquitin protein ligase activity  extracellular exosome  nucleotide-binding oligomerization domain containing signaling pathway  protein K63-linked ubiquitination  protein K48-linked ubiquitination  regulation of protein deubiquitination  
Ontology : EGO-EBIregulation of cell growth  positive regulation of T cell anergy  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  protein binding  nucleoplasm  cytosol  plasma membrane  cell cortex  ubiquitin-dependent protein catabolic process  ubiquitin-dependent protein catabolic process  apoptotic process  inflammatory response  Notch signaling pathway  membrane  protein ubiquitination  ligase activity  ubiquitin-like protein transferase activity  cytoplasmic vesicle  negative regulation of NF-kappaB transcription factor activity  negative regulation of type I interferon production  protein K29-linked ubiquitination  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  ribonucleoprotein complex binding  negative regulation of apoptotic process  innate immune response  CXCR chemokine receptor binding  positive regulation of protein catabolic process  negative regulation of JNK cascade  negative regulation of alpha-beta T cell proliferation  viral entry into host cell  negative regulation of defense response to virus  defense response to virus  ubiquitin protein ligase activity  ubiquitin protein ligase activity  extracellular exosome  nucleotide-binding oligomerization domain containing signaling pathway  protein K63-linked ubiquitination  protein K48-linked ubiquitination  regulation of protein deubiquitination  
Pathways : KEGGUbiquitin mediated proteolysis    Endocytosis    TNF signaling pathway    Non-alcoholic fatty liver disease (NAFLD)   
NDEx NetworkITCH
Atlas of Cancer Signalling NetworkITCH
Wikipedia pathwaysITCH
Orthology - Evolution
OrthoDB83737
GeneTree (enSembl)ENSG00000078747
Phylogenetic Trees/Animal Genes : TreeFamITCH
HOVERGENQ96J02
HOGENOMQ96J02
Homologs : HomoloGeneITCH
Homology/Alignments : Family Browser (UCSC)ITCH
Gene fusions - Rearrangements
Fusion : MitelmanAXIN1/ITCH [16p13.3/20q11.22]  [t(16;20)(p13;q11)]  
Fusion : MitelmanDHX35/ITCH [20q11.23/20q11.22]  [t(20;20)(q11;q12)]  
Fusion : MitelmanITCH/AHCY [20q11.22/20q11.22]  [t(20;20)(q11;q11)]  
Fusion : MitelmanITCH/ASIP [20q11.22/20q11.22]  [t(20;20)(q11;q11)]  
Fusion : MitelmanITCH/DEFB118 [20q11.22/20q11.21]  [t(20;20)(q11;q11)]  
Fusion : MitelmanITCH/MYL9 [20q11.22/20q11.23]  [t(20;20)(q11;q11)]  
Fusion : MitelmanITCH/PIGU [20q11.22/20q11.22]  [t(20;20)(q11;q11)]  
Fusion : MitelmanITCH/RALY [20q11.22/20q11.22]  [dup(20)(q11q11)]  [t(20;20)(q11;q11)]  
Fusion : MitelmanITCH/TAB1 [20q11.22/22q13.1]  [t(20;22)(q11;q13)]  
Fusion : MitelmanITCH/TSHZ2 [20q11.22/20q13.2]  [t(20;20)(q11;q13)]  
Fusion: TCGAAXIN1 16p13.3 ITCH 20q11.22 BRCA
Fusion: TCGAITCH 20q11.22 AHCY 20q11.22 BLCA
Fusion: TCGAITCH 20q11.22 ASIP 20q11.22 BRCA HNSC LUAD LUSC OV
Fusion: TCGAITCH 20q11.22 DEFB118 20q11.21 HNSC
Fusion: TCGAITCH 20q11.22 MYL9 20q11.23 LUAD
Fusion: TCGAITCH 20q11.22 PIGU 20q11.22 PRAD
Fusion: TCGAITCH 20q11.22 RALY 20q11.22 BRCA
Fusion: TCGAITCH 20q11.22 TAB1 22q13.1 BRCA
Fusion: TCGAITCH 20q11.22 TSHZ2 20q13.2 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerITCH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ITCH
dbVarITCH
ClinVarITCH
1000_GenomesITCH 
Exome Variant ServerITCH
ExAC (Exome Aggregation Consortium)ITCH (select the gene name)
Genetic variants : HAPMAP83737
Genomic Variants (DGV)ITCH [DGVbeta]
DECIPHERITCH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisITCH 
Mutations
ICGC Data PortalITCH 
TCGA Data PortalITCH 
Broad Tumor PortalITCH
OASIS PortalITCH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICITCH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDITCH
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)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch ITCH
DgiDB (Drug Gene Interaction Database)ITCH
DoCM (Curated mutations)ITCH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ITCH (select a term)
intoGenITCH
Cancer3DITCH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606409    613385   
Orphanet19132   
MedgenITCH
Genetic Testing Registry ITCH
NextProtQ96J02 [Medical]
TSGene83737
GENETestsITCH
Target ValidationITCH
Huge Navigator ITCH [HugePedia]
snp3D : Map Gene to Disease83737
BioCentury BCIQITCH
ClinGenITCH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD83737
Chemical/Pharm GKB GenePA29934
Clinical trialITCH
Miscellaneous
canSAR (ICR)ITCH (select the gene name)
Probes
Litterature
PubMed185 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineITCH
EVEXITCH
GoPubMedITCH
iHOPITCH
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 12:38:52 CEST 2017

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