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    TYROBP transmembrane immune signaling adaptor TYROBP [ Homo sapiens (human) ]

    Gene ID: 7305, updated on 5-Mar-2024

    Summary

    Official Symbol
    TYROBPprovided by HGNC
    Official Full Name
    transmembrane immune signaling adaptor TYROBPprovided by HGNC
    Primary source
    HGNC:HGNC:12449
    See related
    Ensembl:ENSG00000011600 MIM:604142; AllianceGenome:HGNC:12449
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    19q13.12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (35904403..35908295, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (38450168..38454060, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36395305..36399197, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NFKB inhibitor delta Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:36389157-36389729 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:36389730-36390301 Neighboring gene H3K27ac hESC enhancers GRCh37_chr19:36390314-36390870 and GRCh37_chr19:36390871-36391426 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:36398209-36398362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14505 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14507 Neighboring gene hematopoietic cell signal transducer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14508 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14509 Neighboring gene leucine rich repeat and fibronectin type III domain containing 3 Neighboring gene uncharacterized LOC105372383 Neighboring gene Sharpr-MPRA regulatory region 3529 Neighboring gene Sharpr-MPRA regulatory region 1826 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10543 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10544 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14510 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:36453209-36453373 Neighboring gene MPRA-validated peak3453 silencer

    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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables molecular adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables signaling receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in apoptotic cell clearance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular defense response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in forebrain development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in intracellular signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in microglial cell activation involved in immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in microglial cell activation involved in immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in myeloid leukocyte activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of B cell proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of B cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of interleukin-10 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of long-term synaptic potentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of transforming growth factor beta1 production IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of transforming growth factor beta1 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of type I interferon production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neutrophil activation involved in immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within osteoclast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of interleukin-1 beta production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of interleukin-6 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of macrophage fusion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of macrophage fusion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of microglial cell mediated cytotoxicity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of microglial cell mediated cytotoxicity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of natural killer cell activation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of osteoclast development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of protein localization to cell surface IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of receptor localization to synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of superoxide anion generation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of tumor necrosis factor production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein stabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to axon injury ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in stimulatory C-type lectin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in stimulatory killer cell immunoglobulin-like receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in plasma membrane IC
    Inferred by Curator
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in secretory granule membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    TYRO protein tyrosine kinase-binding protein
    Names
    DNAX adaptor protein 12
    DNAX-activation protein 12
    KAR-associated protein
    TYRO protein tyrosine kinase binding protein
    killer-activating receptor-associated protein
    polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_003332.4NP_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
      Consensus CDS
      CCDS12482.1
      UniProtKB/Swiss-Prot
      A8K2X0, F5H389, O43914, Q6FGA5, Q9UMT3
      Related
      ENSP00000262629.3, ENST00000262629.9
    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_033390.2 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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      35904403..35908295 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      38450168..38454060 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)