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BTC betacellulin [ Homo sapiens (human) ]

Gene ID: 685, updated on 12-May-2016
Official Symbol
BTCprovided by HGNC
Official Full Name
betacellulinprovided by HGNC
Primary source
HGNC:HGNC:1121
See related
Ensembl:ENSG00000174808 HPRD:02643; MIM:600345
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This gene encodes a member of the epidermal growth factor (EGF) family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the secreted growth factor. A secreted form and a membrane-anchored form of this protein bind to multiple different EGF receptors. This protein promotes pancreatic cell proliferation and insulin secretion, as well as retinal vascular permeability. Mutations in this gene may be associated with type 2 diabetes in human patients. [provided by RefSeq, Nov 2015]
Orthologs
Location:
4q13.3
Exon count:
7
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 4 NC_000004.12 (74744759..74794672, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (75671448..75719882, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene epiregulin Neighboring gene amphiregulin Neighboring gene uncharacterized LOC105377278 Neighboring gene uncharacterized LOC105377282

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • ARMS-mediated activation, organism-specific biosystem (from REACTOME)
    ARMS-mediated activation, organism-specific biosystemARMS (Ankyrin-Rich Membrane Spanning/Kidins 220) is a 220kD tetraspanning adaptor protein which becomes rapidly tyrosine phosphorylated by active Trk receptors. ARMS is another adaptor protein which ...
  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Constitutive Signaling by Aberrant PI3K in Cancer, organism-specific biosystem (from REACTOME)
    Constitutive Signaling by Aberrant PI3K in Cancer, organism-specific biosystemSignaling by PI3K/AKT is frequently constitutively activated in cancer via gain-of-function mutations in one of the two PI3K subunits - PI3KCA (encoding the catalytic subunit p110alpha) or PIK3R1 (en...
  • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • DAP12 interactions, organism-specific biosystem (from REACTOME)
    DAP12 interactions, organism-specific biosystemDNAX activation protein of 12kDa (DAP12) is an immunoreceptor tyrosine-based activation motif (ITAM)-bearing adapter molecule that transduces activating signals in natural killer (NK) and myeloid cel...
  • DAP12 signaling, organism-specific biosystem (from REACTOME)
    DAP12 signaling, organism-specific biosystemIn response to receptor ligation, the tyrosine residues in DAP12's immunoreceptor tyrosine-based activation motif (ITAM) are phosphorylated by Src family kinases. These phosphotyrosines form the dock...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
    Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
  • Downstream signal transduction, organism-specific biosystem (from REACTOME)
    Downstream signal transduction, organism-specific biosystemThe role of autophosphorylation sites on PDGF receptors are to provide docking sites for downstream signal transduction molecules which contain SH2 domains. The SH2 domain is a conserved motif of aro...
  • Downstream signaling events of B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
    Downstream signaling events of B Cell Receptor (BCR), organism-specific biosystemSecond messengers (calcium, diacylglycerol, inositol 1,4,5-trisphosphate, and phosphatidyinositol 3,4,5-trisphosphate) trigger signaling pathways: NF-kappaB is activated via protein kinase C beta, RA...
  • Downstream signaling of activated FGFR1, organism-specific biosystem (from REACTOME)
    Downstream signaling of activated FGFR1, organism-specific biosystemSignaling via FGFRs is mediated via direct recruitment of signaling proteins that bind to tyrosine auto-phosphorylation sites on the activated receptor and via closely linked docking proteins that be...
  • Downstream signaling of activated FGFR2, organism-specific biosystem (from REACTOME)
    Downstream signaling of activated FGFR2, organism-specific biosystemSignaling via FGFRs is mediated via direct recruitment of signaling proteins that bind to tyrosine auto-phosphorylation sites on the activated receptor and via closely linked docking proteins that be...
  • Downstream signaling of activated FGFR3, organism-specific biosystem (from REACTOME)
    Downstream signaling of activated FGFR3, organism-specific biosystemSignaling via FGFRs is mediated via direct recruitment of signaling proteins that bind to tyrosine auto-phosphorylation sites on the activated receptor and via closely linked docking proteins that be...
  • Downstream signaling of activated FGFR4, organism-specific biosystem (from REACTOME)
    Downstream signaling of activated FGFR4, organism-specific biosystemSignaling via FGFRs is mediated via direct recruitment of signaling proteins that bind to tyrosine auto-phosphorylation sites on the activated receptor and via closely linked docking proteins that be...
  • ERBB2 Activates PTK6 Signaling, organism-specific biosystem (from REACTOME)
    ERBB2 Activates PTK6 Signaling, organism-specific biosystemPTK6 (BRK) is activated downstream of ERBB2 (HER) (Xiang et al. 2008, Peng et al. 2015) and other receptor tyrosine kinases, such as EGFR (Kamalati et al. 1996) and MET (Castro and Lange 2010). Howev...
  • ERBB2 Regulates Cell Motility, organism-specific biosystem (from REACTOME)
    ERBB2 Regulates Cell Motility, organism-specific biosystemActivated ERBB2 heterodimers regulate cell motility through association with MEMO1. MEMO1 retains activated RHOA GTPase and its associated protein DIAPH1 at the plasma membrane, thus linking ERBB2 ac...
  • ErbB receptor signaling network, organism-specific biosystem (from Pathway Interaction Database)
    ErbB receptor signaling network, organism-specific biosystem
    ErbB receptor signaling network
  • ErbB signaling pathway, organism-specific biosystem (from WikiPathways)
    ErbB signaling pathway, organism-specific biosystemThe ErbB protein family or epidermal growth factor receptor (EGFR) family is a family of four structurally related receptor tyrosine kinases. Insufficient ErbB signaling in humans is associated with ...
  • ErbB signaling pathway, organism-specific biosystem (from KEGG)
    ErbB signaling pathway, organism-specific biosystemThe ErbB family of receptor tyrosine kinases (RTKs) couples binding of extracellular growth factor ligands to intracellular signaling pathways regulating diverse biologic responses, including prolife...
  • ErbB signaling pathway, conserved biosystem (from KEGG)
    ErbB signaling pathway, conserved biosystemThe ErbB family of receptor tyrosine kinases (RTKs) couples binding of extracellular growth factor ligands to intracellular signaling pathways regulating diverse biologic responses, including prolife...
  • ErbB4 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    ErbB4 signaling events, organism-specific biosystem
    ErbB4 signaling events
  • FCERI mediated MAPK activation, organism-specific biosystem (from REACTOME)
    FCERI mediated MAPK activation, organism-specific biosystemFormation of the LAT signaling complex leads to activation of MAPK and production of cytokines. The sequence of events that leads from LAT to cytokine production has not been as clearly defined as th...
  • FRS-mediated FGFR1 signaling, organism-specific biosystem (from REACTOME)
    FRS-mediated FGFR1 signaling, organism-specific biosystemThe FRS family of scaffolding adaptor proteins has two members, FRS2 (also known as FRS2 alpha) and FRS3 (also known as FRS2beta or SNT-2). Activation of FGFR tyrosine kinase allows FRS proteins to ...
  • FRS-mediated FGFR2 signaling, organism-specific biosystem (from REACTOME)
    FRS-mediated FGFR2 signaling, organism-specific biosystemThe FRS family of scaffolding adaptor proteins has two members, FRS2 (also known as FRS2 alpha) and FRS3 (also known as FRS2beta or SNT-2). Activation of FGFR tyrosine kinase allows FRS proteins to ...
  • FRS-mediated FGFR3 signaling, organism-specific biosystem (from REACTOME)
    FRS-mediated FGFR3 signaling, organism-specific biosystemThe FRS family of scaffolding adaptor proteins has two members, FRS2 (also known as FRS2 alpha) and FRS3 (also known as FRS2beta or SNT-2). Activation of FGFR tyrosine kinase allows FRS proteins to ...
  • FRS-mediated FGFR4 signaling, organism-specific biosystem (from REACTOME)
    FRS-mediated FGFR4 signaling, organism-specific biosystemThe FRS family of scaffolding adaptor proteins has two members, FRS2 (also known as FRS2 alpha) and FRS3 (also known as FRS2beta or SNT-2). Activation of FGFR tyrosine kinase allows FRS proteins to ...
  • Fc epsilon receptor (FCERI) signaling, organism-specific biosystem (from REACTOME)
    Fc epsilon receptor (FCERI) signaling, organism-specific biosystemMast cells (MC) are distributed in tissues throughout the human body and have long been recognized as key cells of type I hypersensitivity reactions. They also play important roles in inflammatory an...
  • Frs2-mediated activation, organism-specific biosystem (from REACTOME)
    Frs2-mediated activation, organism-specific biosystemThe adaptor protein Frs2 (Fibroblast growth factor receptor substrate 2) can mediate the prolonged activation of the MAPK (ERK) cascade.
  • GAB1 signalosome, organism-specific biosystem (from REACTOME)
    GAB1 signalosome, organism-specific biosystemGAB1 is recruited to the activated EGFR indirectly, through GRB2. GAB1 acts as an adaptor protein that enables formation of an active PIK3, through recruitment of PIK3 regulatory subunit PIK3R1 (also...
  • GRB2 events in EGFR signaling, organism-specific biosystem (from REACTOME)
    GRB2 events in EGFR signaling, organism-specific biosystemAutophosphorylated EGFR tyrosine residues are docking sites for many downstream effectors in EGFR signaling. The adaptor protein GRB2 binds to phosphotyrosine residues in the C-tail of EGFR through i...
  • GRB2 events in ERBB2 signaling, organism-specific biosystem (from REACTOME)
    GRB2 events in ERBB2 signaling, organism-specific biosystemERBB2:EGFR and ERBB2:ERBB4 can directly recruit GRB2:SOS1 complex through phosphorylated C-tail tyrosines of EGFR (Y1068 and Y1086) and ERBB2 (Y1139) that serve as docking sites for GRB2 (Xie et al. ...
  • Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystem (from REACTOME)
    Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystemGastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic fac...
  • IGF1R signaling cascade, organism-specific biosystem (from REACTOME)
    IGF1R signaling cascade, organism-specific biosystemAfter autophosphorylation the type 1 insulin-like growth factor receptor (IGF1R) binds and phosphorylates scaffold proteins, IRS1/2/4 and SHC1, which in turn bind effectors possessing enzymatic activ...
  • IRS-mediated signalling, organism-specific biosystem (from REACTOME)
    IRS-mediated signalling, organism-specific biosystemRelease of phospho-IRS from the insulin receptor triggers a cascade of signalling events via PI3K, SOS, RAF and the MAP kinases.
  • IRS-related events triggered by IGF1R, organism-specific biosystem (from REACTOME)
    IRS-related events triggered by IGF1R, organism-specific biosystemThe phosphorylated type 1 insulin-like growth factor receptor phosphorylates IR1, IRS2, IRS4 and possibly other IRS/DOK family members (reviewed in Pavelic et al. 2007, Chitnis et al. 2008, Maki et a...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Insulin receptor signalling cascade, organism-specific biosystem (from REACTOME)
    Insulin receptor signalling cascade, organism-specific biosystemAutophosphorylation of the insulin receptor triggers a series of signalling events, mediated by SHC or IRS, and resulting in activation of the Ras/RAF and MAP kinase cascades. A second effect of the ...
  • Interleukin receptor SHC signaling, organism-specific biosystem (from REACTOME)
    Interleukin receptor SHC signaling, organism-specific biosystemPhosphorylation of Shc at three tyrosine residues, 239, 240 (Gotoh et al. 1996) and 317 (Salcini et al. 1994) involves unidentified tyrosine kinases presumed to be part of the activated receptor comp...
  • Interleukin-2 signaling, organism-specific biosystem (from REACTOME)
    Interleukin-2 signaling, organism-specific biosystemInterleukin-2 (IL-2) is a cytokine that is produced by T cells in response to antigen stimulation. Originally, IL-2 was discovered because of its potent growth factor activity on activated T cells in...
  • Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystem (from REACTOME)
    Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystemThe Interleukin-3 (IL-3), IL-5 and Granulocyte-macrophage colony stimulating factor (GM-CSF) receptors form a family of heterodimeric receptors that have specific alpha chains but share a common beta...
  • MAPK family signaling cascades, organism-specific biosystem (from REACTOME)
    MAPK family signaling cascades, organism-specific biosystemThe mitogen activated protein kinases (MAPKs) are a family of conserved protein serine threonine kinases that respond to varied extracellular stimuli to activate intracellular processes including gen...
  • MAPK1/MAPK3 signaling, organism-specific biosystem (from REACTOME)
    MAPK1/MAPK3 signaling, organism-specific biosystemThe extracellular signal regulated kinases (ERKs) 1 and 2, also known as MAPK3 and MAPK1, are phosphorylated by the MAP2Ks 1 and 2 in response to a wide range of extracellular stimuli to promote diff...
  • NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
    NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
  • NGF signalling via TRKA from the plasma membrane, organism-specific biosystem (from REACTOME)
    NGF signalling via TRKA from the plasma membrane, organism-specific biosystemTrk receptors signal from the plasma membrane and from intracellular membranes, particularly from early endosomes. Signalling from the plasma membrane is fast but transient; signalling from endosomes...
  • Negative regulation of the PI3K/AKT network, organism-specific biosystem (from REACTOME)
    Negative regulation of the PI3K/AKT network, organism-specific biosystemThe PI3K/AKT network is negatively regulated by phosphatases that dephosphorylate PIP3, thus hampering AKT activation.
  • Nuclear signaling by ERBB4, organism-specific biosystem (from REACTOME)
    Nuclear signaling by ERBB4, organism-specific biosystemBesides signaling as a transmembrane receptor, ligand activated homodimers of ERBB4 JM-A isoforms (ERBB4 JM-A CYT1 and ERBB4 JM-A CYT2) undergo proteolytic cleavage by ADAM17 (TACE) in the juxtamembr...
  • PI-3K cascade:FGFR1, organism-specific biosystem (from REACTOME)
    PI-3K cascade:FGFR1, organism-specific biosystemThe ability of growth factors to protect from apoptosis is primarily due to the activation of the AKT survival pathway. P-I-3-kinase dependent activation of PDK leads to the activation of AKT which i...
  • PI-3K cascade:FGFR2, organism-specific biosystem (from REACTOME)
    PI-3K cascade:FGFR2, organism-specific biosystemThe ability of growth factors to protect from apoptosis is primarily due to the activation of the AKT survival pathway. P-I-3-kinase dependent activation of PDK leads to the activation of AKT which i...
  • PI-3K cascade:FGFR3, organism-specific biosystem (from REACTOME)
    PI-3K cascade:FGFR3, organism-specific biosystemThe ability of growth factors to protect from apoptosis is primarily due to the activation of the AKT survival pathway. P-I-3-kinase dependent activation of PDK leads to the activation of AKT which i...
  • PI-3K cascade:FGFR4, organism-specific biosystem (from REACTOME)
    PI-3K cascade:FGFR4, organism-specific biosystemThe ability of growth factors to protect from apoptosis is primarily due to the activation of the AKT survival pathway. P-I-3-kinase dependent activation of PDK leads to the activation of AKT which i...
  • PI3K events in ERBB2 signaling, organism-specific biosystem (from REACTOME)
    PI3K events in ERBB2 signaling, organism-specific biosystemERBB2:ERBB3 and ERBB2:ERBB4cyt1 heterodimers activate PI3K signaling by direct binding of PI3K regulatory subunit p85 (Yang et al. 2007, Cohen et al. 1996, Kaushansky et al. 2008) to phosphorylated t...
  • PI3K events in ERBB4 signaling, organism-specific biosystem (from REACTOME)
    PI3K events in ERBB4 signaling, organism-specific biosystemThe CYT1 isoforms of ERBB4 possess a C-tail tyrosine residue that, upon trans-autophosphorylation, serves as a docking site for the p85 alpha subunit of PI3K - PIK3R1 (Kaushansky et al. 2008, Cohen e...
  • PI3K/AKT Signaling in Cancer, organism-specific biosystem (from REACTOME)
    PI3K/AKT Signaling in Cancer, organism-specific biosystemClass IA PI3K is a heterodimer of a p85 regulatory subunit (encoded by PIK3R1, PIK3R2 or PIK3R3) and a p110 catalytic subunit (encoded by PIK3CA, PIK3CB or PIK3CD). In the absence of activating signa...
  • PI3K/AKT activation, organism-specific biosystem (from REACTOME)
    PI3K/AKT activation, organism-specific biosystemPI3K/AKT signalling is a major regulator of neuron survival. It blocks cell death by both impinging on the cytoplasmic cell death machinery and by regulating the expression of genes involved in cell...
  • PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, organism-specific biosystem (from REACTOME)
    PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, organism-specific biosystemPhosphatidylinositol-5-phosphate (PI5P) may modulate PI3K/AKT signaling in several ways. PI5P is used as a substrate for production of phosphatidylinositol-4,5-bisphosphate, PI(4,5)P2 (Rameh et al. 1...
  • PIP3 activates AKT signaling, organism-specific biosystem (from REACTOME)
    PIP3 activates AKT signaling, organism-specific biosystemSignaling by AKT is one of the key outcomes of receptor tyrosine kinase (RTK) activation. AKT is activated by the cellular second messenger PIP3, a phospholipid that is generated by PI3K. In ustimula...
  • Prolonged ERK activation events, organism-specific biosystem (from REACTOME)
    Prolonged ERK activation events, organism-specific biosystemAfter NGF binding, activated Trk receptors provide multiple docking sites for adaptor proteins and enzymes. Two docking proteins, the Ankyrin-Rich Membrane Spanning protein (ARMS/Kidins220) and Fibro...
  • RAF/MAP kinase cascade, organism-specific biosystem (from REACTOME)
    RAF/MAP kinase cascade, organism-specific biosystemThe RAS-RAF-MEK-ERK pathway regulates processes such as proliferation, differentiation, survival, senescence and cell motility in response to growth factors, hormones and cytokines, among others. Bin...
  • Role of LAT2/NTAL/LAB on calcium mobilization, organism-specific biosystem (from REACTOME)
    Role of LAT2/NTAL/LAB on calcium mobilization, organism-specific biosystemThe lipid raft resident adaptor molecules LAT1 and Non-T cell activation linker (NTAL), also known as linker for activation of B cells (LAB)/LAT2 are known participants in the regulation of mast cell...
  • SHC1 events in EGFR signaling, organism-specific biosystem (from REACTOME)
    SHC1 events in EGFR signaling, organism-specific biosystemGRB2 can bind EGFR directly or through another SH2-containing protein, SHC1. This association leads to RAS activation.
  • SHC1 events in ERBB2 signaling, organism-specific biosystem (from REACTOME)
    SHC1 events in ERBB2 signaling, organism-specific biosystemAll ERBB2 heterodimers, ERBB2:EGFR, ERBB2:ERBB3 and ERBB2:ERBB4, are able to activate RAF/MAP kinase cascade by recruiting SHC1 (Pinkas-Kramarski et al. 1996, Sepp-Lorenzino et al. 1996) to phosphory...
  • SHC1 events in ERBB4 signaling, organism-specific biosystem (from REACTOME)
    SHC1 events in ERBB4 signaling, organism-specific biosystemAll splicing isoforms of ERBB4 possess two tyrosine residues in the C-tail that serve as docking sites for SHC1 (Kaushansky et al. 2008, Pinkas-Kramarski et al. 1996, Cohen et al. 1996). Once bound t...
  • SOS-mediated signalling, organism-specific biosystem (from REACTOME)
    SOS-mediated signalling, organism-specific biosystemSOS is recruited to the plasma membrane and mediates activation of Ras.
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by EGFR, organism-specific biosystem (from REACTOME)
    Signaling by EGFR, organism-specific biosystemThe epidermal growth factor receptor (EGFR) is one member of the ERBB family of transmembrane glycoprotein tyrosine receptor kinases (RTK). Binding of EGFR to its ligands induces conformational chang...
  • Signaling by ERBB2, organism-specific biosystem (from REACTOME)
    Signaling by ERBB2, organism-specific biosystemERBB2, also known as HER2 or NEU, is a receptor tyrosine kinase (RTK) belonging to the EGFR family. ERBB2 possesses an extracellular domain that does not bind any known ligand, contrary to other EGFR...
  • Signaling by ERBB4, organism-specific biosystem (from REACTOME)
    Signaling by ERBB4, organism-specific biosystemERBB4, also known as HER4, belongs to the ERBB family of receptors, which also includes ERBB1 (EGFR i.e. HER1), ERBB2 (HER2 i.e. NEU) and ERBB3 (HER3). Similar to EGFR, ERBB4 has an extracellular lig...
  • Signaling by FGFR, organism-specific biosystem (from REACTOME)
    Signaling by FGFR, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
  • Signaling by FGFR1, organism-specific biosystem (from REACTOME)
    Signaling by FGFR1, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
  • Signaling by FGFR2, organism-specific biosystem (from REACTOME)
    Signaling by FGFR2, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
  • Signaling by FGFR3, organism-specific biosystem (from REACTOME)
    Signaling by FGFR3, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
  • Signaling by FGFR4, organism-specific biosystem (from REACTOME)
    Signaling by FGFR4, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • Signaling by Insulin receptor, organism-specific biosystem (from REACTOME)
    Signaling by Insulin receptor, organism-specific biosystemInsulin binding to its receptor results in receptor autophosphorylation on tyrosine residues and the tyrosine phosphorylation of insulin receptor substrates (e.g. IRS and Shc) by the insulin receptor...
  • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
    Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
  • Signaling by Leptin, organism-specific biosystem (from REACTOME)
    Signaling by Leptin, organism-specific biosystemLeptin (LEP, OB, OBS), a circulating adipokine, and its receptor LEPR (DB, OBR) control food intake and energy balance and are implicated in obesity-related diseases (recently reviewed in Amitani et ...
  • Signaling by PDGF, organism-specific biosystem (from REACTOME)
    Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...
  • Signaling by PTK6, organism-specific biosystem (from REACTOME)
    Signaling by PTK6, organism-specific biosystemPTK6 (BRK) is an oncogenic non-receptor tyrosine kinase that functions downstream of ERBB2 (HER2) (Xiang et al. 2008, Peng et al. 2015) and other receptor tyrosine kinases, such as EGFR (Kamalati et ...
  • Signaling by SCF-KIT, organism-specific biosystem (from REACTOME)
    Signaling by SCF-KIT, organism-specific biosystemStem cell factor (SCF) is a growth factor with membrane bound and soluble forms. It is expressed by fibroblasts and endothelial cells throughout the body, promoting proliferation, migration, survival...
  • Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystem (from REACTOME)
    Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystemBinding of IGF1 (IGF-I) or IGF2 (IGF-II) to the extracellular alpha peptides of the type 1 insulin-like growth factor receptor (IGF1R) triggers the activation of two major signaling pathways: the SOS...
  • Signaling by VEGF, organism-specific biosystem (from REACTOME)
    Signaling by VEGF, organism-specific biosystemIn normal development vascular endothelial growth factors (VEGFs) are crucial regulators of vascular development during embryogenesis (vasculogenesis) and blood-vessel formation in the adult (angioge...
  • Signaling by the B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
    Signaling by the B Cell Receptor (BCR), organism-specific biosystemMature B cells express IgM and IgD immunoglobulins which are complexed at the plasma membrane with Ig-alpha (CD79A, MB-1) and Ig-beta (CD79B, B29) to form the B cell receptor (BCR) (Fu et al. 1974, F...
  • Signalling by NGF, organism-specific biosystem (from REACTOME)
    Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
  • Signalling to ERKs, organism-specific biosystem (from REACTOME)
    Signalling to ERKs, organism-specific biosystemNeurotrophins utilize multiple pathways to activate ERKs (ERK1 and ERK2), a subgroup of the large MAP kinase (MAPK) family, from the plasma membrane. The major signalling pathways to ERKs are via RAS...
  • Signalling to RAS, organism-specific biosystem (from REACTOME)
    Signalling to RAS, organism-specific biosystemSignalling through Shc adaptor proteins appears to be identical for both NGF and EGF. It leads to a fast, but transient, MAPK/ERK activation, which is insufficient to explain the prolonged activation...
  • Signalling to p38 via RIT and RIN, organism-specific biosystem (from REACTOME)
    Signalling to p38 via RIT and RIN, organism-specific biosystemRIT and RIN are two small guanine nucleotide binding proteins that share more than 50% sequence identity with RAS, including highly conserved core effector domains. Unlike RAS, the C termini of RIT a...
  • VEGFA-VEGFR2 Pathway, organism-specific biosystem (from REACTOME)
    VEGFA-VEGFR2 Pathway, organism-specific biosystemAngiogenesis is the formation of new blood vessels from preexisting vasculature. One of the most important proangiogenic factors is vascular endothelial growth factor (VEGF). VEGF exerts its biologic...
  • VEGFR2 mediated cell proliferation, organism-specific biosystem (from REACTOME)
    VEGFR2 mediated cell proliferation, organism-specific biosystemVEGFR2 stimulates ERK not via GRB2-SOS-RAS, but via pY1175-dependent phosphorylation of PLC gamma and subsequent activation of PKCs. PKC plays an important mediatory role in the proliferative Ras/Raf...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Ras guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
epidermal growth factor receptor binding IEA
Inferred from Electronic Annotation
more info
 
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-4,5-bisphosphate 3-kinase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein tyrosine kinase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
ERBB2 signaling pathway TAS
Traceable Author Statement
more info
 
MAPK cascade TAS
Traceable Author Statement
more info
 
epidermal growth factor receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol phosphorylation IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-mediated signaling TAS
Traceable Author Statement
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell proliferation TAS
Traceable Author Statement
more info
PubMed 
positive regulation of fibroblast proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of mitotic nuclear division IEA
Inferred from Electronic Annotation
more info
 
positive regulation of urine volume IEA
Inferred from Electronic Annotation
more info
 
regulation of cell motility TAS
Traceable Author Statement
more info
 
regulation of phosphatidylinositol 3-kinase signaling TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001316963.1NP_001303892.1  probetacellulin isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (2, also known as BTC-beta or BTC-delta4) lacks the transmembrane domain and a portion of the EGF domain compared to isoform 1.
    Source sequence(s)
    AB109441, AC116645, BI552049, BI758136, BX114471, S55606
    UniProtKB/Swiss-Prot
    P35070
    UniProtKB/TrEMBL
    A0A0S2Z3I5
  2. NM_001729.3NP_001720.1  probetacellulin isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_001720.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB109441, AC116645, BI758136, BX114471, S55606
    Consensus CDS
    CCDS3566.1
    UniProtKB/Swiss-Prot
    P35070
    UniProtKB/TrEMBL
    A0A0S2Z437
    Related
    ENSP00000379092, OTTHUMP00000160600, ENST00000395743, OTTHUMT00000252413
    Conserved Domains (1) summary
    PHA02887
    Location:50109
    PHA02887; EGF-like protein; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p2 Primary Assembly

    Range
    74744759..74794672 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005263190.2XP_005263247.1  

    Related
    ENSP00000421747, OTTHUMP00000219057, ENST00000512743, OTTHUMT00000362471
  2. XM_011532211.1XP_011530513.1  

    See identical proteins and their annotated locations for XP_011530513.1

    UniProtKB/Swiss-Prot
    P35070
    UniProtKB/TrEMBL
    A0A0S2Z437
    Conserved Domains (1) summary
    PHA02887
    Location:50109
    PHA02887; EGF-like protein; Provisional

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 Alternate CHM1_1.1

    Range
    75647936..75696367 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)