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ITCH (itchy E3 ubiquitin protein ligase)

Identity

Other namesAIF4
AIP4
NAPP1
dJ468O1.1
HGNC (Hugo) ITCH
LocusID (NCBI) 83737
Location 20q11.22
Location_base_pair Starts at 32951041 and ends at 33099198 bp from pter ( according to hg19-Feb_2009)
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
Entrez_Gene (NCBI)ITCH  83737  itchy E3 ubiquitin protein ligase
Cards
GeneCards (Weizmann)ITCH
Ensembl (Hinxton)ENSG00000078747 [Gene_View]  chr20:32951041-33099198 [Contig_View]  ITCH [Vega]
AceView (NCBI)ITCH
Genatlas (Paris)ITCH
SOURCE (Stanford)NM_001257137 NM_001257138 NM_031483
Genomic and cartography
GoldenPath (UCSC)ITCH  -  20q11.22   chr20:32951041-33099198 +  20q11.22   [Description]    (hg19-Feb_2009)
EnsemblITCH - 20q11.22 [CytoView]
Mapping of homologs : NCBIITCH [Mapview]
OMIM606409   613385   
Gene and transcription
Genbank (Entrez)AA730741 AB056663 AB209747 AF038564 AF095745
RefSeq transcript (SRS)NM_001257137 NM_001257138 NM_031483
RefSeq transcript (Entrez)NM_001257137 NM_001257138 NM_031483
RefSeq genomic (SRS)AC_000152 NC_000020 NC_018931 NG_023206 NT_011362 NW_001838664 NW_004078102
RefSeq genomic (Entrez)AC_000152 NC_000020 NC_018931 NG_023206 NT_011362 NW_001838664 NW_004078102
Consensus coding sequences : CCDS (NCBI)ITCH
Cluster EST : UnigeneHs.632272 [ SRS ] Hs.632272 [ NCBI ]
CGAP (NCI)Hs.632272
Alternative Splicing : Fast-db (Paris)GSHG0018696
Alternative Splicing GalleryENSG00000078747
Gene ExpressionITCH [ NCBI-GEO ]   ITCH [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96J02 (SRS) Q96J02 (Uniprot)
NextProtQ96J02
With graphics : InterProQ96J02
Splice isoforms : SwissVarQ96J02(Swissvar)
Domaine pattern : Prosite (SRS)C2 (PS50004)    HECT (PS50237)    WW_DOMAIN_1 (PS01159)    WW_DOMAIN_2 (PS50020)   
Domaine pattern : Prosite (Expaxy)C2 (PS50004)    HECT (PS50237)    WW_DOMAIN_1 (PS01159)    WW_DOMAIN_2 (PS50020)   
Domains : Interpro (SRS)C2_Ca-dep    C2_Ca/lipid-bd_dom_CaLB    C2_membr_targeting    E3_ub_ligase_SMURF1    HECT    WW_Rsp5_WWP   
Domains : Interpro (EBI)C2_Ca-dep    C2_Ca/lipid-bd_dom_CaLB    C2_membr_targeting    E3_ub_ligase_SMURF1    HECT    WW_Rsp5_WWP   
Related proteins : CluSTrQ96J02
Domain families : Pfam (SRS)C2 (PF00168)    HECT (PF00632)    WW (PF00397)   
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)  
DMDM83737
Blocks (Seattle)Q96J02
PDB (SRS)2DMV    2KYK    2NQ3    2P4R    2YSF    3TUG   
PDB (PDBSum)2DMV    2KYK    2NQ3    2P4R    2YSF    3TUG   
PDB (IMB)2DMV    2KYK    2NQ3    2P4R    2YSF    3TUG   
PDB (RSDB)2DMV    2KYK    2NQ3    2P4R    2YSF    3TUG   
Human Protein AtlasENSG00000078747
IPIIPI00061780   IPI00176010   IPI01010870   
Protein Interaction databases
DIP (DOE-UCLA)Q96J02
IntAct (EBI)Q96J02
FunCoupENSG00000078747
REACTOMEITCH
Protein Interaction Database83737
BioGRIDITCH
InParanoidQ96J02
Interologous Interaction database Q96J02
IntegromeDBITCH
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ITCH
SNP (GeneSNP Utah)ITCH
SNP : HGBaseITCH
Genetic variants : HAPMAPITCH
Somatic Mutations in Cancer : COSMICITCH 
CONAN: Copy Number AnalysisITCH 
Mutations and Diseases : HGMDITCH
OMIM606409    613385   
GENETests606409    613385   
Disease Genetic AssociationITCH
Huge Navigator ITCH [HugePedia]  ITCH [HugeCancerGEM]
Genomic VariantsITCH  ITCH [DGVbeta]
snp3D : Map Gene to Disease83737
General knowledge
Homologs : HomoloGeneITCH
Homology/Alignments : Family Browser (UCSC)ITCH
Phylogenetic Trees/Animal Genes : TreeFamITCH
Catalytic activity : Enzyme6.3.2.- [ Enzyme-Expasy ]   6.3.2.- [ Enzyme-SRS ]   6.3.2.- [ IntEnz-EBI ]   6.3.2.- [ BRENDA ]   6.3.2.- [ KEGG ]   
Chemical/Protein Interactions : CTD83737
Chemical/Pharm GKB GenePA29934
Clinical trialITCH
Cancer Resource (Charite)ENSG00000078747
Ontology : AmiGOregulation of cell growth  positive regulation of T cell anergy  ubiquitin-protein ligase activity  ubiquitin-protein ligase activity  ubiquitin-protein ligase activity  protein binding  nucleus  cytoplasm  cytosol  plasma membrane  cell cortex  ubiquitin-dependent protein catabolic process  ubiquitin-dependent protein catabolic process  apoptotic process  inflammatory response  Notch signaling pathway  protein ubiquitination  cytoplasmic vesicle  negative regulation of NF-kappaB transcription factor activity  negative regulation of type I interferon production  protein K29-linked ubiquitination  nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway  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  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 ligase activity  ubiquitin-protein ligase activity  ubiquitin-protein ligase activity  protein binding  nucleus  cytoplasm  cytosol  plasma membrane  cell cortex  ubiquitin-dependent protein catabolic process  ubiquitin-dependent protein catabolic process  apoptotic process  inflammatory response  Notch signaling pathway  protein ubiquitination  cytoplasmic vesicle  negative regulation of NF-kappaB transcription factor activity  negative regulation of type I interferon production  protein K29-linked ubiquitination  nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway  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  nucleotide-binding oligomerization domain containing signaling pathway  protein K63-linked ubiquitination  protein K48-linked ubiquitination  regulation of protein deubiquitination  
Pathways : KEGGDentatorubropallidoluysian atrophy (DRPLA)Ubiquitin mediated proteolysis
Other databases
Probes
Litterature
PubMed129 Pubmed reference(s) in Entrez
PubGeneITCH
iHOPITCH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 12:33:47 CEST 2013
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