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    TYROBP TYRO protein tyrosine kinase binding protein [ Homo sapiens (human) ]

    Gene ID: 7305, updated on 22-Jun-2019

    Summary

    Official Symbol
    TYROBPprovided by HGNC
    Official Full Name
    TYRO protein tyrosine kinase binding proteinprovided by HGNC
    Primary source
    HGNC:HGNC:12449
    See related
    Ensembl:ENSG00000011600 MIM:604142
    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
    Also known as
    DAP12; KARAP; PLOSL; PLOSL1
    Summary
    This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Mar 2010]
    Expression
    Broad expression in bone marrow (RPKM 147.9), spleen (RPKM 124.2) and 20 other tissues See more
    Orthologs

    Genomic context

    See TYROBP in Genome Data Viewer
    Location:
    19q13.12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (35904401..35908309, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36395303..36399211, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NFKB inhibitor delta Neighboring gene hematopoietic cell signal transducer Neighboring gene leucine rich repeat and fibronectin type III domain containing 3 Neighboring gene uncharacterized LOC105372383 Neighboring gene Sharpr-MPRA regulatory region 1826

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • 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...
    • Cell-Cell communication, organism-specific biosystem (from REACTOME)
      Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
    • 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...
    • 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...
    • Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, organism-specific biosystem (from REACTOME)
      Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, organism-specific biosystemA number of receptors and cell adhesion molecules play a key role in modifying the response of cells of lymphoid origin (such as B-, T- and NK cells) to self and tumor antigens, as well as to pathoge...
    • 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
    • Natural killer cell mediated cytotoxicity, organism-specific biosystem (from KEGG)
      Natural killer cell mediated cytotoxicity, organism-specific biosystemNatural killer (NK) cells are lymphocytes of the innate immune system that are involved in early defenses against both allogeneic (nonself) cells and autologous cells undergoing various forms of stre...
    • Natural killer cell mediated cytotoxicity, conserved biosystem (from KEGG)
      Natural killer cell mediated cytotoxicity, conserved biosystemNatural killer (NK) cells are lymphocytes of the innate immune system that are involved in early defenses against both allogeneic (nonself) cells and autologous cells undergoing various forms of stre...
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • Osteoclast differentiation, organism-specific biosystem (from KEGG)
      Osteoclast differentiation, organism-specific biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
    • Osteoclast differentiation, conserved biosystem (from KEGG)
      Osteoclast differentiation, conserved biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
    • Other semaphorin interactions, organism-specific biosystem (from REACTOME)
      Other semaphorin interactions, organism-specific biosystemThere are eight classes of semaphorins and four types of plexins. Semaphorin (SEMA) classes 1 and 2 are found in invertebrates and classes 3-7 are vertebrate sempahorines. Sempahorin class 3 is secre...
    • Semaphorin interactions, organism-specific biosystem (from REACTOME)
      Semaphorin interactions, organism-specific biosystemSemaphorins are a large family of cell surface and secreted guidance molecules divided into eight classes on the basis of their structures. They all have an N-terminal conserved sema domain. Semaphor...
    • Signal regulatory protein (SIRP) family interactions, organism-specific biosystem (from REACTOME)
      Signal regulatory protein (SIRP) family interactions, organism-specific biosystemSignal regulatory protein (SIRP)alpha, also known as SHPS-1 or SIRPA or CD172a, is a transmembrane protein expressed mostly on myeloid cells. CD47, a widely expressed transmembrane protein, is a liga...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    signaling receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    signaling receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    actin cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    apoptotic cell clearance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    apoptotic signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular defense response TAS
    Traceable Author Statement
    more info
    PubMed 
    forebrain development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    innate immune response TAS
    Traceable Author Statement
    more info
     
    integrin-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    microglial cell activation involved in immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    myeloid leukocyte activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of B cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of interleukin-10 biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of long-term synaptic potentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of transforming growth factor beta1 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    osteoclast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of hippocampal neuron apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of interleukin-1 beta biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of interleukin-6 biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of macrophage fusion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of microglial cell mediated cytotoxicity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of natural killer cell activation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of neuron death ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of osteoclast development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of protein localization to cell surface IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of receptor localization to synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of superoxide anion generation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of tumor necrosis factor biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein stabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of immune response TAS
    Traceable Author Statement
    more info
     
    response to axon injury ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cell ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    secretory granule membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    TYRO protein tyrosine kinase-binding protein
    Names
    DNAX-activation protein 12
    KAR-associated protein
    killer-activating receptor-associated protein

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_009304.1 RefSeqGene

      Range
      4976..8884
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_607

    mRNA and Protein(s)

    1. NM_001173514.2NP_001166985.1  TYRO protein tyrosine kinase-binding protein isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) is shorter compared to isoform 1.
      Source sequence(s)
      BP295666, BP302545, BQ576278
      Consensus CDS
      CCDS54255.1
      UniProtKB/Swiss-Prot
      O43914
      Related
      ENSP00000445332.1, ENST00000544690.6
    2. NM_001173515.2NP_001166986.1  TYRO protein tyrosine kinase-binding protein isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon and uses an alternate in-frame splice site in the coding region, compared to variant 1. The resulting isoform (4) is shorter compared to isoform 1.
      Source sequence(s)
      BP305672
      Consensus CDS
      CCDS59378.1
      UniProtKB/TrEMBL
      X6RGC9
      Related
      ENSP00000402371.3, ENST00000424586.7
    3. NM_003332.3NP_003323.1  TYRO protein tyrosine kinase-binding protein isoform 1 precursor

      See identical proteins and their annotated locations for NP_003323.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF019562, BP302545, BQ576278
      Consensus CDS
      CCDS12482.1
      UniProtKB/Swiss-Prot
      O43914
      Related
      ENSP00000262629.3, ENST00000262629.8
    4. NM_198125.3NP_937758.1  TYRO protein tyrosine kinase-binding protein isoform 2 precursor

      See identical proteins and their annotated locations for NP_937758.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as 112DAP12, uses an alternate in-frame splice site in the coding region, compared to variant 1. The resulting isoform (2) is 1 aa shorter compared to isoform 1.
      Source sequence(s)
      AK290385, BQ576278
      Consensus CDS
      CCDS46058.1
      UniProtKB/Swiss-Prot
      O43914
      Related
      ENSP00000468447.1, ENST00000589517.1

    RNA

    1. NR_033390.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate in-frame exon and uses an alternate splice junction compared to variant 1, that causes a frameshift. This variant is not thought to be protein-coding.
      Source sequence(s)
      BI908458, BP302545, BQ576278
      Related
      ENST00000587837.5

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      35904401..35908309 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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