LOCUS       NM_012108               1951 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens signal transducing adaptor family member 1 (STAP1),
            transcript variant 1, mRNA.
ACCESSION   NM_012108
VERSION     NM_012108.4
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 1951)
  AUTHORS   Sun,L., Zhao,X., Zhang,H., Li,G. and Li,N.
  TITLE     Relationship between STAP1 methylation in peripheral blood T cells
            and the clinicopathological characteristics and prognosis of
            patients within 5-cm diameter HCC
  JOURNAL   Minerva Gastroenterol (Torino) 70 (1), 16-21 (2024)
   PUBMED   37526444
  REMARK    GeneRIF: Relationship between STAP1 methylation in peripheral blood
            T cells and the clinicopathological characteristics and prognosis
            of patients within 5-cm diameter HCC.
REFERENCE   2  (bases 1 to 1951)
  AUTHORS   Sun,L., Lu,J., Li,K., Zhang,H., Zhao,X., Li,G. and Li,N.
  TITLE     Diagnostic and prognostic value of STAP1 and AHNAK methylation in
            peripheral blood immune cells for HBV-related hepatopathy
  JOURNAL   Front Immunol 13, 1091103 (2023)
   PUBMED   36713363
  REMARK    GeneRIF: Diagnostic and prognostic value of STAP1 and AHNAK
            methylation in peripheral blood immune cells for HBV-related
            hepatopathy.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1951)
  AUTHORS   Ichii,M., Oritani,K., Toda,J., Hosen,N., Matsuda,T. and Kanakura,Y.
  TITLE     Signal-transducing adaptor protein-1 and protein-2 in hematopoiesis
            and diseases
  JOURNAL   Exp Hematol 105, 10-17 (2022)
   PUBMED   34780812
  REMARK    GeneRIF: Signal-transducing adaptor protein-1 and protein-2 in
            hematopoiesis and diseases.
            Review article
REFERENCE   4  (bases 1 to 1951)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 1951)
  AUTHORS   Fouchier,S.W., Dallinga-Thie,G.M., Meijers,J.C., Zelcer,N.,
            Kastelein,J.J., Defesche,J.C. and Hovingh,G.K.
  TITLE     Mutations in STAP1 are associated with autosomal dominant
            hypercholesterolemia
  JOURNAL   Circ Res 115 (6), 552-555 (2014)
   PUBMED   25035151
  REMARK    GeneRIF: Mutations in STAP1 are associated with autosomal dominant
            hypercholesterolemia.
REFERENCE   6  (bases 1 to 1951)
  AUTHORS   Minoguchi,M., Minoguchi,S., Aki,D., Joo,A., Yamamoto,T.,
            Yumioka,T., Matsuda,T. and Yoshimura,A.
  TITLE     STAP-2/BKS, an adaptor/docking protein, modulates STAT3 activation
            in acute-phase response through its YXXQ motif
  JOURNAL   J Biol Chem 278 (13), 11182-11189 (2003)
   PUBMED   12540842
REFERENCE   7  (bases 1 to 1951)
  AUTHORS   Yokohari,K., Yamashita,Y., Okada,S., Ohya,K., Oda,S., Hatano,M.,
            Mano,H., Hirasawa,H. and Tokuhisa,T.
  TITLE     Isoform-dependent interaction of BRDG1 with Tec kinase
  JOURNAL   Biochem Biophys Res Commun 289 (2), 414-420 (2001)
   PUBMED   11716489
REFERENCE   8  (bases 1 to 1951)
  AUTHORS   Masuhara,M., Nagao,K., Nishikawa,M., Sasaki,M., Yoshimura,A. and
            Osawa,M.
  TITLE     Molecular cloning of murine STAP-1, the stem-cell-specific adaptor
            protein containing PH and SH2 domains
  JOURNAL   Biochem Biophys Res Commun 268 (3), 697-703 (2000)
   PUBMED   10679268
REFERENCE   9  (bases 1 to 1951)
  AUTHORS   Ohya,K., Kajigaya,S., Kitanaka,A., Yoshida,K., Miyazato,A.,
            Yamashita,Y., Yamanaka,T., Ikeda,U., Shimada,K., Ozawa,K. and
            Mano,H.
  TITLE     Molecular cloning of a docking protein, BRDG1, that acts downstream
            of the Tec tyrosine kinase
  JOURNAL   Proc Natl Acad Sci U S A 96 (21), 11976-11981 (1999)
   PUBMED   10518561
REFERENCE   10 (bases 1 to 1951)
  AUTHORS   Kurosaki,T.
  TITLE     Genetic analysis of B cell antigen receptor signaling
  JOURNAL   Annu Rev Immunol 17, 555-592 (1999)
   PUBMED   10358768
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX372307.2, AB023483.1,
            BG190230.1 and BE326685.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_012108.3.
            
            Summary: The protein encoded by this gene contains a proline-rich
            region, a pleckstrin homology (PH) domain, and a region in the
            carboxy terminal half with similarity to the Src Homology 2 (SH2)
            domain. This protein is a substrate of tyrosine-protein kinase Tec,
            and its interaction with tyrosine-protein kinase Tec is
            phosphorylation-dependent. This protein is thought to participate
            in a positive feedback loop by upregulating the activity of
            tyrosine-protein kinase Tec. Variants of this gene have been
            associated with autosomal-dominant hypercholesterolemia (ADH),
            which is characterized by elevated low-density lipoprotein
            cholesterol levels and in increased risk of coronary vascular
            disease. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Dec 2015].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            
            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 :: SRR1163657.136082.1,
                                           SRR1163657.520642.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000265404.7/ ENSP00000265404.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 BX372307.2         639-639             c
            2-1499              AB023483.1         2-1499
            1500-1512           BG190230.1         598-610
            1513-1951           BE326685.1         1-439               c
FEATURES             Location/Qualifiers
     source          1..1951
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.2"
     gene            1..1951
                     /gene="STAP1"
                     /gene_synonym="BRDG1; STAP-1"
                     /note="signal transducing adaptor family member 1"
                     /db_xref="GeneID:26228"
                     /db_xref="HGNC:HGNC:24133"
                     /db_xref="MIM:604298"
     exon            1..203
                     /gene="STAP1"
                     /gene_synonym="BRDG1; STAP-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             84..971
                     /gene="STAP1"
                     /gene_synonym="BRDG1; STAP-1"
                     /note="docking protein BRDG1; stem cell adaptor protein 1;
                     BCR downstream-signaling protein 1"
                     /codon_start=1
                     /product="signal-transducing adaptor protein 1"
                     /protein_id="NP_036240.1"
                     /db_xref="CCDS:CCDS3515.1"
                     /db_xref="GeneID:26228"
                     /db_xref="HGNC:HGNC:24133"
                     /db_xref="MIM:604298"
                     /translation="MMAKKPPKPAPRRIFQERLKITALPLYFEGFLLIKRSGYREYEH
                     YWTELRGTTLFFYTDKKSIIYVDKLDIVDLTCLTEQNSTEKNCAKFTLVLPKEEVQLK
                     TENTESGEEWRGFILTVTELSVPQNVSLLPGQVIKLHEVLEREKKRRIETEQSTSVEK
                     EKEPTEDYVDVLNPMPACFYTVSRKEATEMLQKNPSLGNMILRPGSDSRNYSITIRQE
                     IDIPRIKHYKVMSVGQNYTIELEKPVTLPNLFSVIDYFVKETRGNLRPFICSTDENTG
                     QEPSMEGRSEKLKKNPHIA"
     exon            204..275
                     /gene="STAP1"
                     /gene_synonym="BRDG1; STAP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            276..389
                     /gene="STAP1"
                     /gene_synonym="BRDG1; STAP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            390..446
                     /gene="STAP1"
                     /gene_synonym="BRDG1; STAP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            447..613
                     /gene="STAP1"
                     /gene_synonym="BRDG1; STAP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            614..742
                     /gene="STAP1"
                     /gene_synonym="BRDG1; STAP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            743..812
                     /gene="STAP1"
                     /gene_synonym="BRDG1; STAP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            813..909
                     /gene="STAP1"
                     /gene_synonym="BRDG1; STAP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            910..1951
                     /gene="STAP1"
                     /gene_synonym="BRDG1; STAP-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1489..1494
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STAP1"
                     /gene_synonym="BRDG1; STAP-1"
                     /note="hexamer: AATAAA"
     polyA_site      1508
                     /gene="STAP1"
                     /gene_synonym="BRDG1; STAP-1"
     regulatory      1932..1937
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STAP1"
                     /gene_synonym="BRDG1; STAP-1"
                     /note="hexamer: AATAAA"
     polyA_site      1951
                     /gene="STAP1"
                     /gene_synonym="BRDG1; STAP-1"
                     /note="major polyA site"
ORIGIN      
        1 gaacagttgc cttttcctct cacagaagga agatttcatt ttgtttgaga cgagaaacca
       61 aaccacacac caaagagagg ggtatgatgg ctaagaagcc cccaaaacca gcccctcgca
      121 ggatcttcca ggaaaggtta aagattactg ctctaccttt gtactttgaa ggttttttat
      181 taatcaagcg gtcaggatac cgggagtatg agcattactg gacagagttg agaggaacta
      241 ctcttttctt ttataccgac aaaaagagta taatatatgt tgacaaatta gacatagtag
      301 acctcacatg ccttactgag cagaattcaa ctgaaaagaa ctgtgcgaaa ttcacccttg
      361 ttttgccgaa agaggaagta caactgaaga cagagaacac agaaagtggg gaagaatgga
      421 gaggcttcat tcttacagta acagagctgt cagttcccca aaacgtgtca ctcctacctg
      481 ggcaagtaat taaactgcat gaagtcctag agagagaaaa gaaaaggagg attgagacag
      541 agcagagtac gtccgtggaa aaagagaagg aaccaactga agattatgtg gatgtactga
      601 accctatgcc agcatgtttt tatacagtgt cccggaaaga ggcaactgag atgctccaga
      661 agaacccttc tttgggaaat atgatcctga ggcctggtag tgacagtaga aactactcca
      721 tcactattcg gcaggagata gacattccaa gaatcaagca ctacaaagtg atgagcgtag
      781 gacaaaacta cactattgaa ctggaaaaac ctgtaacact cccaaacctt ttcagtgtca
      841 ttgattattt tgtgaaggag actcgaggaa atttaagacc atttatatgt tcaactgatg
      901 aaaacactgg tcaagaaccc agtatggaag ggagaagtga aaagttgaag aaaaatccac
      961 acattgcatg aaatacaatg tgaaagctcc tttgtatatc ttggtaattt atattttcaa
     1021 aacgaagttc ttacttttaa agagaattac ctatattctc ctgatactga ttaccaagtc
     1081 attcacctga acaccagaat tagaattaaa cattgtacca tacaatttca ttatcttatc
     1141 agaatgaaac caattcacag ggaaactaga gactacggct gtggtggtaa cctgcagata
     1201 tacacattcc catgcactga cataagttga aaacacatag tactttctag atggaatttt
     1261 tttctttagg cctcaatgaa atacatttcc cctatataat tccaacagca gtttctctag
     1321 ttctaaattt taccaattcc caaaaaacct aagttttgct gaaatctgat ttgaccaatt
     1381 tatcaaatat gtcattttaa ttacctagct ggaagttaga gacatgaaat gtactagagg
     1441 agcccttttc caatggaaat attatatacc acattttttg ttaatggaaa taaatgtctt
     1501 cattcccatg tttttccctg gtgtcatctt tttgccactc aaaatcagcc cattatttcc
     1561 ttacaaagat ggtgaaaggc tgtatcatca tcttgtcgta agtacgatga gcctgattat
     1621 aagtacctgg agttcttaaa aatatggaac catcagcccc agactgcatc tactgaatca
     1681 aaataacagg gatatttttt cataattttt ttcttcaaaa gcaaacttct aaattgattt
     1741 tgatggttat caatttggga atcacacaat caactaagaa tgaaaagata tggtctatat
     1801 tctacagggg aaagactatg tgagacagag ggagaaaaca gccattgaca actcaaggag
     1861 agaggcctcg gggggaaaaa aagatcaacc tggccaaaac cttgaaaatc cggcttcttg
     1921 acttgtgaga aaataaattt gtgttcctta a
//
