Entity Details

Primary name TYOBP_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO43914
EntryNameTYOBP_HUMAN
FullNameTYRO protein tyrosine kinase-binding protein
TaxID9606
Evidenceevidence at protein level
Length113
SequenceStatuscomplete
DateCreated2000-05-30
DateModified2021-06-02

Ontological Relatives

GenesTYROBP

GO terms

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GOName
GO:0002222 stimulatory killer cell immunoglobulin-like receptor signaling pathway
GO:0002223 stimulatory C-type lectin receptor signaling pathway
GO:0002274 myeloid leukocyte activation
GO:0002282 microglial cell activation involved in immune response
GO:0002283 neutrophil activation involved in immune response
GO:0005102 signaling receptor binding
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006968 cellular defense response
GO:0007165 signal transduction
GO:0009986 cell surface
GO:0010628 positive regulation of gene expression
GO:0016021 integral component of membrane
GO:0030036 actin cytoskeleton organization
GO:0030316 osteoclast differentiation
GO:0030667 secretory granule membrane
GO:0030889 negative regulation of B cell proliferation
GO:0030900 forebrain development
GO:0032693 negative regulation of interleukin-10 production
GO:0032731 positive regulation of interleukin-1 beta production
GO:0032755 positive regulation of interleukin-6 production
GO:0032760 positive regulation of tumor necrosis factor production
GO:0032816 positive regulation of natural killer cell activation
GO:0032911 negative regulation of transforming growth factor beta1 production
GO:0032930 positive regulation of superoxide anion generation
GO:0034241 positive regulation of macrophage fusion
GO:0035556 intracellular signal transduction
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0043277 apoptotic cell clearance
GO:0043312 neutrophil degranulation
GO:0045087 innate immune response
GO:0046872 metal ion binding
GO:0048678 response to axon injury
GO:0050776 regulation of immune response
GO:0050821 protein stabilization
GO:0097190 apoptotic signaling pathway
GO:0110090 positive regulation of hippocampal neuron apoptotic process
GO:1900272 negative regulation of long-term synaptic potentiation
GO:1901216 positive regulation of neuron death
GO:1902685 positive regulation of receptor localization to synapse
GO:1904151 positive regulation of microglial cell mediated cytotoxicity
GO:2000010 positive regulation of protein localization to cell surface
GO:2001206 positive regulation of osteoclast development

Subcellular Location

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Subcellular Location
Cell membrane

Domains

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DomainNameCategoryType
IPR026200 TYRO protein tyrosine kinase-binding proteinFamilyFamily

Diseases

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Disease IDSourceNameDescription
221770 OMIMPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (PLOSL1)A recessively inherited disease characterized by presenile dementia along with large-scale destruction of cancellous bones. Initial symptoms, starting in the twenties, are pain and swelling resulting from cysts in the wrists and ankles. Extremity bone fractures could occur with minor trauma. At around 30 years of age, patients gradually develop neuropsychiatric symptoms, including epileptic seizures, agnosia, apraxia, speech disorder, memory disturbance, euphoria, and loss of social inhibitions. The disorder usuallly leads to death in the fifth decade of life. The disease is caused by variants affecting the gene represented in this entry.