Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83737
Gene name Gene Name - the full gene name approved by the HGNC.
Itchy E3 ubiquitin protein ligase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ITCH
Synonyms (NCBI Gene) Gene synonyms aliases
ADMFD, AIF4, AIP4, NAPP1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ADMFD
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q11.22
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs587776592 ->A Pathogenic Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000372 hsa-miR-106b-5p Luciferase reporter assay, Western blot 19096009
MIRT000372 hsa-miR-106b-5p Luciferase reporter assay 19074548
MIRT000372 hsa-miR-106b-5p Microarray 17242205
MIRT042842 hsa-miR-324-3p CLASH 23622248
MIRT475091 hsa-miR-543 PAR-CLIP 23592263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IBA 21873635
GO:0001558 Process Regulation of cell growth NAS 9462742
GO:0004842 Function Ubiquitin-protein transferase activity IDA 17592138
GO:0004842 Function Ubiquitin-protein transferase activity IMP 24790097
GO:0004842 Function Ubiquitin-protein transferase activity NAS 10940313
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606409 13890 ENSG00000078747
Protein
UniProt ID Q96J02
Protein name E3 ubiquitin-protein ligase Itchy homolog (Itch) (EC 2.3.2.26) (Atrophin-1-interacting protein 4) (AIP4) (HECT-type E3 ubiquitin transferase Itchy homolog) (NFE2-associated polypeptide 1) (NAPP1)
Protein function Acts as an Acts as an E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates (PubMed:11046148, PubMed:14602072, PubM
PDB 2DMV , 2KYK , 2NQ3 , 2P4R , 2YSF , 3TUG , 4ROF , 5C7M , 5CQ2 , 5DWS , 5DZD , 5SXP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00168 C2 18 116 C2 domain Domain
PF00397 WW 328 357 WW domain Domain
PF00397 WW 360 389 WW domain Domain
PF00397 WW 440 469 WW domain Domain
PF00397 WW 480 509 WW domain Domain
PF00632 HECT 598 903 HECT-domain (ubiquitin-transferase) Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed.
Sequence
MSDSGSQLGSMGSLTMKSQLQITVISAKLKENKKNWFGPSPYVEVTVDGQSKKTEKCNNT
NSPKWKQPLTVIVTPVSKLHFRVWSHQTLKSDVLLGTAALDIYETLKSNNMKLEEV
VVTL
QLGGDKEPTETIGDLSICLDGLQLESEVVTNGETTCSENGVSLCLPRLECNSAISAHCNL
CLPGLSDSPISASRVAGFTGASQNDDGSRSKDETRVSTNGSDDPEDAGAGENRRVSGNNS
PSLSNGGFKPSRPPRPSRPPPPTPRRPASVNGSPSATSESDGSSTGSLPPTNTNTNTSEG
ATSGLIIPLTISGGSGPRPLNPVTQAPLPPGWEQRVDQHGRVYYVDHVEKRTTWDRPEPL
PPGWERRVDNMGRIYYVDHFTRTTTWQRP
TLESVRNYEQWQLQRSQLQGAMQQFNQRFIY
GNQDLFATSQSKEFDPLGPLPPGWEKRTDSNGRVYFVNHNTRITQWEDPRSQGQLNEKPL
PEGWEMRFTVDGIPYFVDHNRRTTTYIDP
RTGKSALDNGPQIAYVRDFKAKVQYFRFWCQ
QLAMPQHIKITVTRKTLFEDSFQQIMSFSPQDLRRRLWVIFPGEEGLDYGGVAREWFFLL
SHEVLNPMYCLFEYAGKDNYCLQINPASYINPDHLKYFRFIGRFIAMALFHGKFIDTGFS
LPFYKRILNKPVGLKDLESIDPEFYNSLIWVKENNIEECDLEMYFSVDKEILGEIKSHDL
KPNGGNILVTEENKEEYIRMVAEWRLSRGVEEQTQAFFEGFNEILPQQYLQYFDAKELEV
LLCGMQEIDLNDWQRHAIYRHYARTSKQIMWFWQFVKEIDNEKRMRLLQFVTGTCRLPVG
GFADLMGSNGPQKFCIEKVGKENWLPRSHTCFNRLDLPPYKSYEQLKEKLLFAIEETEGF
GQE
Sequence length 903
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Ubiquitin mediated proteolysis
Endocytosis
Notch signaling pathway
TNF signaling pathway
Non-alcoholic fatty liver disease
  Downregulation of ERBB4 signaling
NOD1/2 Signaling Pathway
Activated NOTCH1 Transmits Signal to the Nucleus
Degradation of GLI1 by the proteasome
Hedgehog 'on' state
RUNX1 regulates transcription of genes involved in differentiation of HSCs
Negative regulators of DDX58/IFIH1 signaling
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Diabetes mellitus Diabetes Mellitus, Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
Hypothyroidism Hypothyroidism rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912
View all (22 more)
Liver failure Liver Failure, Acute rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116
View all (10 more)
Unknown
Disease term Disease name Evidence References Source
Cirrhosis Cirrhosis ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Neuroticism Neuroticism GWAS
Metabolic Syndrome Metabolic Syndrome GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 34818353
Adenocarcinoma of Lung Associate 37762133
Arthritis Associate 33894394
Autoimmune Diseases Associate 20170897
Autoimmune Diseases of the Nervous System Associate 33894394
Behcet Syndrome Associate 26890122
Breast Neoplasms Associate 34927784
Carcinoma Hepatocellular Associate 28636993, 34531437, 34841685, 36114756
Carcinoma Hepatocellular Inhibit 36442661
Carcinoma Ovarian Epithelial Associate 30556849