ITCH

ITCH
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2DMV, 2KYK, 2NQ3, 2P4R, 2YSF, 3TUG, 4ROF, 5CQ2, 5DWS, 5DZD, 5C7M
Identifiers
Aliases	ITCH, AIF4, AIP4, NAPP1, dJ468O1.1, ADMFD, itchy E3 ubiquitin protein ligase
External IDs	OMIM: 606409; MGI: 1202301; HomoloGene: 88442; GeneCards: ITCH; OMA:ITCH - orthologs
Gene location (Human)
Chr.	Chromosome 20 (human)
End	34,540,748 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	155,068,775 bp
RNA expression pattern
	Top expressed in
	sperm; ; Achilles tendon; ; sural nerve; ; epithelium of colon; ; islet of Langerhans; ; monocyte; ; internal globus pallidus; ; rectum; ; stromal cell of endometrium; ; corpus callosum;
	Top expressed in
	Rostral migratory stream; ; genital tubercle; ; mesenteric lymph nodes; ; calvaria; ; hand; ; jejunum; ; tail of embryo; ; lacrimal gland; ; epithelium of small intestine; ; right kidney;
	More reference expression data
	n/a
Gene ontology
Molecular function	CXCR chemokine receptor binding; protein binding; ribonucleoprotein complex binding; ubiquitin-like protein transferase activity; transferase activity; ligase activity; ubiquitin protein ligase activity; ubiquitin-protein transferase activity; ubiquitin-like protein ligase binding; arrestin family protein binding;
Cellular component	cytosol; extracellular exosome; plasma membrane; membrane; nucleoplasm; nucleus; cell cortex; cytoplasmic vesicle; cytoplasm; early endosome; endosome; endosome membrane; early endosome membrane; protein-containing complex; intracellular membrane-bounded organelle;
Biological process	Notch signaling pathway; protein K29-linked ubiquitination; immune system process; protein K63-linked ubiquitination; negative regulation of apoptotic process; defense response to virus; regulation of cell growth; viral entry into host cell; negative regulation of type I interferon production; inflammatory response; viral process; nucleotide-binding oligomerization domain containing signaling pathway; apoptotic process; innate immune response; protein polyubiquitination; positive regulation of T cell anergy; ubiquitin-dependent protein catabolic process; negative regulation of NF-kappaB transcription factor activity; positive regulation of protein catabolic process; negative regulation of JNK cascade; negative regulation of alpha-beta T cell proliferation; negative regulation of defense response to virus; protein K48-linked ubiquitination; regulation of protein deubiquitination; proteasome-mediated ubiquitin-dependent protein catabolic process; regulation of hematopoietic stem cell differentiation; protein ubiquitination; protein autoubiquitination; positive regulation of receptor catabolic process;
	Sources:Amigo / QuickGO
Orthologs
	83737
	16396
	ENSG00000078747
	ENSMUSG00000027598
	Q96J02
	Q8C863
	NM_001257137; NM_001257138; NM_031483; NM_001324197; NM_001324198
	NM_001243712; NM_008395
	NP_001244066; NP_001244067; NP_001311126; NP_001311127; NP_113671
	NP_001230641; NP_032421
	Wikidata
View/Edit Human	View/Edit Mouse

ITCH is a HECT domain–containing E3 ubiquitin ligase that is ablated in non-agouti-lethal 18H (aka Itchy) mice. Itchy mice develop a severe immunological phenotype after birth that includes hyperplasia of lymphoid and hematopoietic cells, and stomach and lung inflammation. In humans ITCH deficiency causes altered physical growth, craniofacial morphology defects, defective muscle development, and aberrant immune system function. The ITCH gene is located on chromosome 20 in humans. ITCH contains a C2 domain, proline-rich region, WW domains, HECT domain, and multiple amino acids that are phosphorylated and ubiquitinated.