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

Gene ID: 7305, updated on 26-May-2016
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 HPRD:04996; MIM:604142; Vega:OTTHUMG00000181739
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
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]
Orthologs
Location:
19q13.12
Exon count:
5
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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...
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
receptor signaling protein activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cellular defense response TAS
Traceable Author Statement
more info
PubMed 
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 
macrophage activation involved in immune response IEA
Inferred from Electronic Annotation
more info
 
neutrophil activation involved in immune response IEA
Inferred from Electronic Annotation
more info
 
regulation of immune response TAS
Traceable Author Statement
more info
 
regulation of osteoclast development IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
intracellular IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
TYRO protein tyrosine kinase-binding protein
Names
DNAX-activation protein 12
KAR-associated protein
killer-activating receptor-associated protein

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_001173514.1NP_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, OTTHUMP00000273171, ENST00000544690, OTTHUMT00000469998
  2. NM_001173515.1NP_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)
    BP302545, BP305672, BQ576278
    Consensus CDS
    CCDS59378.1
    UniProtKB/TrEMBL
    X6RGC9
    Related
    ENSP00000402371, OTTHUMP00000267347, ENST00000424586, OTTHUMT00000457395
  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, OTTHUMP00000267349, ENST00000262629, OTTHUMT00000457397
    Conserved Domains (1) summary
    pfam07213
    Location:2276
    DAP10; DAP10 membrane protein
  4. NM_198125.2NP_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, BP302545, BQ576278
    Consensus CDS
    CCDS46058.1
    UniProtKB/Swiss-Prot
    O43914
    Related
    ENSP00000468447, OTTHUMP00000267350, ENST00000589517, OTTHUMT00000457400
    Conserved Domains (1) summary
    pfam07213
    Location:2279
    DAP10; DAP10 membrane protein

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, OTTHUMT00000457394

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_000019.10 Reference GRCh38.p2 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    36396596..36400504 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)