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

Gene ID: 7305, updated on 7-Jun-2020

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
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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (35904403..35908295, 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 Functions

What's a GeneRIF?

Pathways from PubChem

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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of B cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of interleukin-10 biosynthetic process IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transforming growth factor beta1 production ISS
Inferred from Sequence or Structural Similarity
more info
 
neutrophil activation involved in immune response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of interleukin-1 beta biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of interleukin-6 biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of interleukin-6 biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of macrophage fusion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of macrophage fusion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of microglial cell mediated cytotoxicity IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 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)

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
    O43914
    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: Homo sapiens Updated 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
    35904403..35908295 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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