Homo sapiens Protein: ERBB3
Summary
InnateDB Protein IDBP-39826.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ERBB3
Protein Name v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)
Synonyms c-erbB-3; c-erbB3; ErbB-3; erbB3-S; HER3; LCCS2; MDA-BF-1; p180-ErbB3; p45-sErbB3; p85-sErbB3;
Species Homo sapiens
Ensembl Protein ENSP00000267101
InnateDB Gene IDBG-39824 (ERBB3)
Protein Structure
UniProt Annotation
Function Binds and is activated by neuregulins and NTAK. {ECO:0000269PubMed:15358134}.
Subcellular Localization Isoform 1: Cell membrane; Single-pass type I membrane protein.Isoform 2: Secreted.
Disease Associations Lethal congenital contracture syndrome 2 (LCCS2) [MIM:607598]: 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. {ECO:0000269PubMed:17701904}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Epithelial tissues and brain.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 82 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 82 [view]
Protein-Protein 81 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004672 protein kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0004714 transmembrane receptor protein tyrosine kinase activity
GO:0004716 receptor signaling protein tyrosine kinase activity
GO:0004888 transmembrane signaling receptor activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016772 transferase activity, transferring phosphorus-containing groups
GO:0019838 growth factor binding
GO:0030296 protein tyrosine kinase activator activity
GO:0042803 protein homodimerization activity
GO:0046982 protein heterodimerization activity
Biological Process
GO:0003197 endocardial cushion development
GO:0006468 protein phosphorylation
GO:0007162 negative regulation of cell adhesion
GO:0007165 signal transduction
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway
GO:0007173 epidermal growth factor receptor signaling pathway
GO:0007422 peripheral nervous system development
GO:0007507 heart development
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0009968 negative regulation of signal transduction
GO:0014037 Schwann cell differentiation
GO:0014065 phosphatidylinositol 3-kinase signaling
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling
GO:0021545 cranial nerve development
GO:0038095 Fc-epsilon receptor signaling pathway
GO:0042060 wound healing
GO:0042127 regulation of cell proliferation
GO:0043524 negative regulation of neuron apoptotic process
GO:0045087 innate immune response
GO:0048011 neurotrophin TRK receptor signaling pathway
GO:0048015 phosphatidylinositol-mediated signaling
GO:0051048 negative regulation of secretion
GO:0051402 neuron apoptotic process
GO:0061098 positive regulation of protein tyrosine kinase activity
GO:0097192 extrinsic apoptotic signaling pathway in absence of ligand
Cellular Component
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0016328 lateral plasma membrane
GO:0043235 receptor complex
Protein Structure and Domains
PDB ID
InterPro IPR000494 EGF receptor, L domain
IPR000719 Protein kinase domain
IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
IPR002290 Serine/threonine/dual specificity protein kinase, catalytic domain
IPR006211 Furin-like cysteine-rich domain
IPR006212 Furin-like repeat
IPR009030 Insulin-like growth factor binding protein, N-terminal
IPR011009 Protein kinase-like domain
IPR016245 Tyrosine protein kinase, EGF/ERB/XmrK receptor
IPR020635 Tyrosine-protein kinase, catalytic domain
PFAM PF01030
PF00069
PF07714
PF00757
PRINTS PR00109
PIRSF PIRSF000619
SMART SM00220
SM00261
SM00219
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P21860
PhosphoSite PhosphoSite-P21860
TrEMBL Q9NNX2
UniProt Splice Variant
Entrez Gene 2065
UniGene Hs.622058
RefSeq NP_001973
HUGO HGNC:3431
OMIM 190151
CCDS CCDS31833
HPRD 01820
IMGT
EMBL AC034102 AK291681 AK295650 AK300909 BC002706 BC082992 BT007226 M29366 M34309 S61953 U88356
GenPept AAA35790 AAA35979 AAB26935 AAF86628 AAH02706 AAH82992 AAP35890 BAF84370 BAG58519 BAG62544