LOCUS       NM_003332                575 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens transmembrane immune signaling adaptor TYROBP
            (TYROBP), transcript variant 1, mRNA.
ACCESSION   NM_003332
VERSION     NM_003332.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 575)
  AUTHORS   Jia,W., Chen,L., Hou,S., Kang,C. and Deng,H.
  TITLE     TYROBP as a molecular target in cholangiocarcinoma, renal cancer
            and abdominal aortic aneurysm
  JOURNAL   Medicine (Baltimore) 103 (1), e36843 (2024)
   PUBMED   38181271
  REMARK    GeneRIF: TYROBP as a molecular target in cholangiocarcinoma, renal
            cancer and abdominal aortic aneurysm.
REFERENCE   2  (bases 1 to 575)
  AUTHORS   Guo,L., An,T., Zhou,H., Wan,Z., Huang,Z. and Chong,T.
  TITLE     MMP9 and TYROBP affect the survival of circulating tumor cells in
            clear cell renal cell carcinoma by adapting to tumor immune
            microenvironment
  JOURNAL   Sci Rep 13 (1), 6982 (2023)
   PUBMED   37117633
  REMARK    GeneRIF: MMP9 and TYROBP affect the survival of circulating tumor
            cells in clear cell renal cell carcinoma by adapting to tumor
            immune microenvironment.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 575)
  AUTHORS   Zhou,Y., Tada,M., Cai,Z., Andhey,P.S., Swain,A., Miller,K.R.,
            Gilfillan,S., Artyomov,M.N., Takao,M., Kakita,A. and Colonna,M.
  TITLE     Human early-onset dementia caused by DAP12 deficiency reveals a
            unique signature of dysregulated microglia
  JOURNAL   Nat Immunol 24 (3), 545-557 (2023)
   PUBMED   36658241
  REMARK    GeneRIF: Human early-onset dementia caused by DAP12 deficiency
            reveals a unique signature of dysregulated microglia.
            Erratum:[Nat Immunol. 2023 Mar;24(3):558. doi:
            10.1038/s41590-023-01465-6.. PMID: 36807644]
REFERENCE   4  (bases 1 to 575)
  AUTHORS   Xu,H.R., Chen,J.J., Shen,J.M., Ding,W.H. and Chen,J.
  TITLE     TYRO protein tyrosine kinase-binding protein predicts favorable
            overall survival in osteosarcoma and correlates with antitumor
            immunity
  JOURNAL   Medicine (Baltimore) 101 (39), e30878 (2022)
   PUBMED   36181123
  REMARK    GeneRIF: TYRO protein tyrosine kinase-binding protein predicts
            favorable overall survival in osteosarcoma and correlates with
            antitumor immunity.
REFERENCE   5  (bases 1 to 575)
  AUTHORS   Li,J., Shi,H., Yuan,Z., Wu,Z., Li,H., Liu,Y., Lu,M. and Lu,M.
  TITLE     The role of SPI1-TYROBP-FCER1G network in oncogenesis and prognosis
            of osteosarcoma, and its association with immune infiltration
  JOURNAL   BMC Cancer 22 (1), 108 (2022)
   PUBMED   35078433
  REMARK    GeneRIF: The role of SPI1-TYROBP-FCER1G network in oncogenesis and
            prognosis of osteosarcoma, and its association with immune
            infiltration.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 575)
  AUTHORS   Pekkarinen,P., Kestila,M., Paloneva,J., Terwillign,J., Varilo,T.,
            Jarvi,O., Hakola,P. and Peltonen,L.
  TITLE     Fine-scale mapping of a novel dementia gene, PLOSL, by linkage
            disequilibrium
  JOURNAL   Genomics 54 (2), 307-315 (1998)
   PUBMED   9828133
REFERENCE   7  (bases 1 to 575)
  AUTHORS   Lanier,L.L., Corliss,B., Wu,J. and Phillips,J.H.
  TITLE     Association of DAP12 with activating CD94/NKG2C NK cell receptors
  JOURNAL   Immunity 8 (6), 693-701 (1998)
   PUBMED   9655483
REFERENCE   8  (bases 1 to 575)
  AUTHORS   Lanier,L.L., Corliss,B.C., Wu,J., Leong,C. and Phillips,J.H.
  TITLE     Immunoreceptor DAP12 bearing a tyrosine-based activation motif is
            involved in activating NK cells
  JOURNAL   Nature 391 (6668), 703-707 (1998)
   PUBMED   9490415
REFERENCE   9  (bases 1 to 575)
  AUTHORS   Pekkarinen,P., Hovatta,I., Hakola,P., Jarvi,O., Kestila,M.,
            Lenkkeri,U., Adolfsson,R., Holmgren,G., Nylander,P.O.,
            Tranebjaerg,L., Terwilliger,J.D., Lonnqvist,J. and Peltonen,L.
  TITLE     Assignment of the locus for PLO-SL, a frontal-lobe dementia with
            bone cysts, to 19q13
  JOURNAL   Am J Hum Genet 62 (2), 362-372 (1998)
   PUBMED   9463329
REFERENCE   10 (bases 1 to 575)
  AUTHORS   Paloneva,J., Autti,T., Hakola,P. and Haltia,M.J.
  TITLE     Polycystic Lipomembranous Osteodysplasia with Sclerosing
            Leukoencephalopathy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301376
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP302545.1 and AF019562.1.
            
            On Aug 31, 2019 this sequence version replaced NM_003332.3.
            
            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].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DB157293.1, BP295893.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155770 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000262629.9/ ENSP00000262629.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                BP302545.1         15-25
            12-575              AF019562.1         12-575
FEATURES             Location/Qualifiers
     source          1..575
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     gene            1..575
                     /gene="TYROBP"
                     /gene_synonym="DAP12; KARAP; PLOSL; PLOSL1"
                     /note="transmembrane immune signaling adaptor TYROBP"
                     /db_xref="GeneID:7305"
                     /db_xref="HGNC:HGNC:12449"
                     /db_xref="MIM:604142"
     exon            1..128
                     /gene="TYROBP"
                     /gene_synonym="DAP12; KARAP; PLOSL; PLOSL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             68..409
                     /gene="TYROBP"
                     /gene_synonym="DAP12; KARAP; PLOSL; PLOSL1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; DNAX-activation protein 12; TYRO protein
                     tyrosine kinase binding protein; KAR-associated protein;
                     killer-activating receptor-associated protein; polycystic
                     lipomembranous osteodysplasia with sclerosing
                     leukoencephalopathy; DNAX adaptor protein 12"
                     /codon_start=1
                     /product="TYRO protein tyrosine kinase-binding protein
                     isoform 1 precursor"
                     /protein_id="NP_003323.1"
                     /db_xref="CCDS:CCDS12482.1"
                     /db_xref="GeneID:7305"
                     /db_xref="HGNC:HGNC:12449"
                     /db_xref="MIM:604142"
                     /translation="MGGLEPCSRLLLLPLLLAVSGLRPVQAQAQSDCSCSTVSPGVLA
                     GIVMGDLVLTVLIALAVYFLGRLVPRGRGAAEAATRKQRITETESPYQELQGQRSDVY
                     SDLNTQRPYYK"
     exon            129..161
                     /gene="TYROBP"
                     /gene_synonym="DAP12; KARAP; PLOSL; PLOSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            162..296
                     /gene="TYROBP"
                     /gene_synonym="DAP12; KARAP; PLOSL; PLOSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            297..343
                     /gene="TYROBP"
                     /gene_synonym="DAP12; KARAP; PLOSL; PLOSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            344..575
                     /gene="TYROBP"
                     /gene_synonym="DAP12; KARAP; PLOSL; PLOSL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      555..560
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TYROBP"
                     /gene_synonym="DAP12; KARAP; PLOSL; PLOSL1"
                     /note="hexamer: AATAAA"
     polyA_site      575
                     /gene="TYROBP"
                     /gene_synonym="DAP12; KARAP; PLOSL; PLOSL1"
                     /note="major polyA site"
ORIGIN      
        1 acttgcctgg acgctgcgcc acatcccacc ggcccttaca ctgtggtgtc cagcagcatc
       61 cggcttcatg gggggacttg aaccctgcag caggctcctg ctcctgcctc tcctgctggc
      121 tgtaagtggt ctccgtcctg tccaggccca ggcccagagc gattgcagtt gctctacggt
      181 gagcccgggc gtgctggcag ggatcgtgat gggagacctg gtgctgacag tgctcattgc
      241 cctggccgtg tacttcctgg gccggctggt ccctcggggg cgaggggctg cggaggcagc
      301 gacccggaaa cagcgtatca ctgagaccga gtcgccttat caggagctcc agggtcagag
      361 gtcggatgtc tacagcgacc tcaacacaca gaggccgtat tacaaatgag cccgaatcat
      421 gacagtcagc aacatgatac ctggatccag ccattcctga agcccaccct gcacctcatt
      481 ccaactccta ccgcgataca gacccacaga gtgccatccc tgagagacca gaccgctccc
      541 caatactctc ctaaaataaa catgaagcac aaaaa
//
