ITCH

Itch
Available structures
PDBHuman UniProt search: PDBe RCSB
Identifiers
Aliases6720481N21Rik8030492O04RikA130065M08AIP4C230047C07RikitchyE3 ubiquitin protein ligase
External IDsHomoloGene: 88442; GeneCards: [1]; OMA:- orthologs
Orthologs
SpeciesHumanMouse
Entrez

16396

n/a

Ensembl

ENSMUSG00000027598

n/a

UniProt

Q8C863

Q8C863

RefSeq (mRNA)

NM_001243712
NM_008395

n/a

RefSeq (protein)

NP_001230641
NP_032421

NP_001230641
NP_032421

Location (UCSC)Chr 2: 154.98 – 155.07 Mbn/a
PubMed searchn/a
Wikidata
View/Edit Human

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.