ERBB4
Encyclopedia
Receptor tyrosine-protein kinase erbB-4 is an enzyme
that in humans is encoded by the ERBB4 gene
. Alternatively spliced variants that encode different protein isoforms have been described; however, not all variants have been fully characterized.
that is a member of the epidermal growth factor receptor
subfamily. ERBB4 is a single-pass type I transmembrane protein with multiple furin
-like cysteine rich domains, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain
binding motif. The protein binds to and is activated by neuregulin
s-2 and -3, heparin-binding EGF-like growth factor
and betacellulin
. Ligand binding induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment.
.
with:
Enzyme
Enzymes are proteins that catalyze chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical reactions in a biological cell need enzymes in order to occur at rates...
that in humans is encoded by the ERBB4 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
. Alternatively spliced variants that encode different protein isoforms have been described; however, not all variants have been fully characterized.
Function
Receptor tyrosine-protein kinase erbB-4 is a receptor tyrosine kinaseReceptor tyrosine kinase
Receptor tyrosine kinases s are the high-affinity cell surface receptors for many polypeptide growth factors, cytokines, and hormones. Of the 90 unique tyrosine kinase genes identified in the human genome, 58 encode receptor tyrosine kinase proteins....
that is a member of the epidermal growth factor receptor
ErbB
The ErbB protein family or epidermal growth factor receptor family is a family of four structurally related receptor tyrosine kinases. The gene symbol, ErbB, is derived from the name of a viral oncogene to which these receptors are homologous: Erythroblastic Leukemia Viral Oncogene...
subfamily. ERBB4 is a single-pass type I transmembrane protein with multiple furin
Furin
Furin is a protein that in humans is encoded by the FURIN gene. It was named furin because it was in the upstream region of an oncogene known as FES. The gene was known as FUR and therefore the protein was named furin...
-like cysteine rich domains, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain
PDZ domain
The PDZ domain is a common structural domain of 80-90 amino-acids found in the signaling proteins of bacteria, yeast, plants, viruses and animals...
binding motif. The protein binds to and is activated by neuregulin
Neuregulin
The Neuregulins are a family of four structurally-related proteins that are part of the EGF family of proteins. These proteins have been shown to have diverse functions in the development of the nervous system and play multiple essential roles in vertebrate embryogenesis including: cardiac...
s-2 and -3, heparin-binding EGF-like growth factor
Heparin-binding EGF-like growth factor
Heparin-binding EGF-like growth factor is a member of the EGF family of proteins. It has been shown to play a role in wound healing, cardiac hypertrophy and heart development and function.-Interactions:...
and betacellulin
Betacellulin
Betacellulin is a protein that in humans is encoded by the BTC gene located on chromosome 4 at locus 4q13-q21. Betacellulin is a member of the EGF family of growth factors. It is synthesized primarily as a transmembrane precursor, which is then processed to mature molecule by proteolytic events...
. Ligand binding induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment.
Clinical significance
Mutations in this gene have been associated with cancer. Other single-nucleotide polymorphisms and a risk haplotype have been linked to schizophreniaSchizophrenia
Schizophrenia is a mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests itself as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social...
.
Interactions
ERBB4 has been shown to interactProtein-protein interaction
Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...
with:
- DLG4DLG4PSD-95 also known as SAP-90 is a protein that in humans is encoded by the DLG4 gene....
- NRG1,
- STAT5ASTAT5ASignal transducer and activator of transcription 5A is a protein that in humans is encoded by the STAT5A gene. STAT5A orthologs have been identified in several placentals for which complete genome data are available.-Interactions:...
, and - YAP1YAP165 kDa Yes-associated protein is a protein that in humans is encoded by the YAP1 gene.-Interactions:YAP1 has been shown to interact with Mothers against decapentaplegic homolog 7, ERBB4, Sodium-hydrogen antiporter 3 regulator 1, TP53BP2 and P73....
.