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ERBB3 phospho Y1222

OverviewProducts

Developmental stage

Overexpressed in a subset of human mammary tumors.

Domain

The cytoplasmic part of the receptor may interact with the SH2 or SH3 domains of many signal-transducing proteins.

Function

Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins. Binds to neuregulin-1 (NRG1) and is activated by it; ligand-binding increases phosphorylation on tyrosine residues and promotes its association with the p85 subunit of phosphatidylinositol 3-kinase (PubMed:20682778). May also be activated by CSPG5 (PubMed:15358134). Involved in the regulation of myeloid cell differentiation (PubMed:27416908).

Involvement in disease

Lethal congenital contracture syndrome 2

LCCS2

A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non-progressive joint contractures (arthrogryposis). The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS2 patients manifest craniofacial/ocular findings, lack of hydrops, multiple pterygia, and fractures, as well as a normal duration of pregnancy and a unique feature of a markedly distended urinary bladder (neurogenic bladder defect). The phenotype suggests a spinal cord neuropathic etiology.

None

The disease is caused by variants affecting the gene represented in this entry.

Erythroleukemia, familial

FERLK

An autosomal dominant myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood. Disease penetrance is incomplete.

None

Disease susceptibility may be associated with variants affecting the gene represented in this entry.

Post-translational modifications

Autophosphorylated (PubMed:20351256). Ligand-binding increases phosphorylation on tyrosine residues and promotes its association with the p85 subunit of phosphatidylinositol 3-kinase (PubMed:20682778).

Sequence similarities

Belongs to the protein kinase superfamily. Tyr protein kinase family. EGF receptor subfamily.

Tissue specificity

Epithelial tissues and brain.

Cellular localization

  • Isoform 1
  • Cell membrane
  • Single-pass type I membrane protein
  • Isoform 2
  • Secreted

Alternative names

  • Receptor tyrosine-protein kinase erbB-3
  • Proto-oncogene-like protein c-ErbB-3
  • Tyrosine kinase-type cell surface receptor HER3
  • HER3
  • ERBB3

Database links

Target type

Proteins

Primary research area

Oncology

Molecular weight

148098Da