LOCUS       NM_011364                888 bp    mRNA    linear   ROD 11-FEB-2025
DEFINITION  Mus musculus SH2 domain containing 1A (Sh2d1a), transcript variant
            2, mRNA.
ACCESSION   NM_011364 XM_489862
VERSION     NM_011364.4
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 888)
  AUTHORS   Jiang,G., Xu,S., Mai,X., Tu,J., Wang,L., Wang,L., Zhan,Y., Wang,Y.,
            Zhang,Q., Zheng,L., Li,J., Tang,P. and Qi,C.
  TITLE     SAP deletion promotes malignant insulinoma progression by inducing
            CXCL12 secretion from CAFs via the CXCR4/p38/ERK signalling pathway
  JOURNAL   J Cell Mol Med 28 (10), e18397 (2024)
   PUBMED   38766687
  REMARK    GeneRIF: SAP deletion promotes malignant insulinoma progression by
            inducing CXCL12 secretion from CAFs via the CXCR4/p38/ERK
            signalling pathway.
REFERENCE   2  (bases 1 to 888)
  AUTHORS   Chang,Y., Bach,L., Hasiuk,M., Wen,L., Elmzzahi,T., Tsui,C.,
            Gutierrez-Melo,N., Steffen,T., Utzschneider,D.T., Raj,T.,
            Jost,P.J., Heink,S., Cheng,J., Burton,O.T., Zeitrag,J.,
            Alterauge,D., Dahlstrom,F., Becker,J.C., Kastl,M., Symeonidis,K.,
            van Uelft,M., Becker,M., Reschke,S., Krebs,S., Blum,H.,
            Abdullah,Z., Paeschke,K., Ohnmacht,C., Neumann,C., Liston,A.,
            Meissner,F., Korn,T., Hasenauer,J., Heissmeyer,V., Beyer,M.,
            Kallies,A., Jeker,L.T. and Baumjohann,D.
  TITLE     TGF-beta specifies TFH versus TH17 cell fates in murine CD4+ T
            cells through c-Maf
  JOURNAL   Sci Immunol 9 (93), eadd4818 (2024)
   PUBMED   38427718
  REMARK    Erratum:[Sci Immunol. 2024 May 31;9(95):eadp3365. doi:
            10.1126/sciimmunol.adq3365.. PMID: 38820142]
REFERENCE   3  (bases 1 to 888)
  AUTHORS   Akama-Garren,E.H., Yin,X., Prestwood,T.R., Ma,M., Utz,P.J. and
            Carroll,M.C.
  TITLE     T cell help shapes B cell tolerance
  JOURNAL   Sci Immunol 9 (92), eadj7029 (2024)
   PUBMED   38363829
REFERENCE   4  (bases 1 to 888)
  AUTHORS   Nguyen,T., Lau,A., Bier,J., Cooke,K.C., Lenthall,H., Ruiz-Diaz,S.,
            Avery,D.T., Brigden,H., Zahra,D., Sewell,W.A., Droney,L., Okada,S.,
            Asano,T., Abolhassani,H., Chavoshzadeh,Z., Abraham,R.S.,
            Rajapakse,N., Klee,E.W., Church,J.A., Williams,A., Wong,M.,
            Burkhart,C., Uzel,G., Croucher,D.R., James,D.E., Ma,C.S., Brink,R.,
            Tangye,S.G. and Deenick,E.K.
  TITLE     Human PIK3R1 mutations disrupt lymphocyte differentiation to cause
            activated PI3Kdelta syndrome 2
  JOURNAL   J Exp Med 220 (6) (2023)
   PUBMED   36943234
REFERENCE   5  (bases 1 to 888)
  AUTHORS   Panchal,N., Houghton,B.C., Vassalou,E., Thrasher,A.J. and Booth,C.
  TITLE     Allosteric inhibition of SHP2 rescues functional T-cell
            abnormalities in SAP deficiency
  JOURNAL   J Allergy Clin Immunol 150 (6), 1507-1516 (2022)
   PUBMED   35839843
REFERENCE   6  (bases 1 to 888)
  AUTHORS   Wu,C., Nguyen,K.B., Pien,G.C., Wang,N., Gullo,C., Howie,D.,
            Sosa,M.R., Edwards,M.J., Borrow,P., Satoskar,A.R., Sharpe,A.H.,
            Biron,C.A. and Terhorst,C.
  TITLE     SAP controls T cell responses to virus and terminal differentiation
            of TH2 cells
  JOURNAL   Nat Immunol 2 (5), 410-414 (2001)
   PUBMED   11323694
REFERENCE   7  (bases 1 to 888)
  AUTHORS   Sumegi,J., Huang,D., Lanyi,A., Davis,J.D., Seemayer,T.A., Maeda,A.,
            Klein,G., Seri,M., Wakiguchi,H., Purtilo,D.T. and Gross,T.G.
  TITLE     Correlation of mutations of the SH2D1A gene and epstein-barr virus
            infection with clinical phenotype and outcome in X-linked
            lymphoproliferative disease
  JOURNAL   Blood 96 (9), 3118-3125 (2000)
   PUBMED   11049992
REFERENCE   8  (bases 1 to 888)
  AUTHORS   Wu,C., Sayos,J., Wang,N., Howie,D., Coyle,A. and Terhorst,C.
  TITLE     Genomic organization and characterization of mouse SAP, the gene
            that is altered in X-linked lymphoproliferative disease
  JOURNAL   Immunogenetics 51 (10), 805-815 (2000)
   PUBMED   10970095
REFERENCE   9  (bases 1 to 888)
  AUTHORS   Sayos,J., Wu,C., Morra,M., Wang,N., Zhang,X., Allen,D., van
            Schaik,S., Notarangelo,L., Geha,R., Roncarolo,M.G., Oettgen,H., De
            Vries,J.E., Aversa,G. and Terhorst,C.
  TITLE     The X-linked lymphoproliferative-disease gene product SAP regulates
            signals induced through the co-receptor SLAM
  JOURNAL   Nature 395 (6701), 462-469 (1998)
   PUBMED   9774102
REFERENCE   10 (bases 1 to 888)
  AUTHORS   Coffey,A.J., Brooksbank,R.A., Brandau,O., Oohashi,T., Howell,G.R.,
            Bye,J.M., Cahn,A.P., Durham,J., Heath,P., Wray,P., Pavitt,R.,
            Wilkinson,J., Leversha,M., Huckle,E., Shaw-Smith,C.J., Dunham,A.,
            Rhodes,S., Schuster,V., Porta,G., Yin,L., Serafini,P., Sylla,B.,
            Zollo,M., Franco,B., Bolino,A., Seri,M., Lanyi,A., Davis,J.R.,
            Webster,D., Harris,A., Lenoir,G., de St Basile,G., Jones,A.,
            Behloradsky,B.H., Achatz,H., Murken,J., Fassler,R., Sumegi,J.,
            Romeo,G., Vaudin,M., Ross,M.T., Meindl,A. and Bentley,D.R.
  TITLE     Host response to EBV infection in X-linked lymphoproliferative
            disease results from mutations in an SH2-domain encoding gene
  JOURNAL   Nat Genet 20 (2), 129-135 (1998)
   PUBMED   9771704
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL831716.7, AK040076.1 and AF097632.1.
            
            On Aug 25, 2015 this sequence version replaced NM_011364.3.
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon compared to variant 1. The resulting isoform (2) has the same
            N- and C-termini but is shorter compared to 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 :: AF072903.1, BC065390.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849375, SAMN00849377
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-43                AL831716.7         37583-37625
            44-862              AK040076.1         2-820
            863-888             AF097632.1         766-791
FEATURES             Location/Qualifiers
     source          1..888
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="X"
                     /map="X 23.2 cM"
     gene            1..888
                     /gene="Sh2d1a"
                     /gene_synonym="Gm686; SAP"
                     /note="SH2 domain containing 1A"
                     /db_xref="GeneID:20400"
                     /db_xref="MGI:MGI:1328352"
     exon            1..295
                     /gene="Sh2d1a"
                     /gene_synonym="Gm686; SAP"
                     /inference="alignment:Splign:2.1.0"
     CDS             159..539
                     /gene="Sh2d1a"
                     /gene_synonym="Gm686; SAP"
                     /note="isoform 2 is encoded by transcript variant 2; SH2
                     domain-containing protein 1A; T-cell signal transduction
                     molecule SAP; signaling lymphocytic activation
                     molecule-associated protein; Duncan disease homolog; SH2
                     domain protein 1A"
                     /codon_start=1
                     /product="SH2 domain-containing protein 1A isoform 2"
                     /protein_id="NP_035494.1"
                     /db_xref="CCDS:CCDS30099.1"
                     /db_xref="GeneID:20400"
                     /db_xref="MGI:MGI:1328352"
                     /translation="MDAVTVYHGKISRETGEKLLLATGLDGSYLLRDSESVPGVYCLC
                     VLYQGYIYTYRVSQTETGSWSAETAPGVHKRFFRKVKNLISAFQKPDQGIVTPLQYPV
                     EKSSGRGPQAPTGRRDSDICLNAP"
     exon            296..359
                     /gene="Sh2d1a"
                     /gene_synonym="Gm686; SAP"
                     /inference="alignment:Splign:2.1.0"
     exon            360..501
                     /gene="Sh2d1a"
                     /gene_synonym="Gm686; SAP"
                     /inference="alignment:Splign:2.1.0"
     exon            502..884
                     /gene="Sh2d1a"
                     /gene_synonym="Gm686; SAP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      848..853
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Sh2d1a"
                     /gene_synonym="Gm686; SAP"
                     /note="hexamer: AATAAA"
     polyA_site      884
                     /gene="Sh2d1a"
                     /gene_synonym="Gm686; SAP"
                     /note="major polyA site"
ORIGIN      
        1 tctctctctc tctctctctc tctctctctc tctctctctc tctctctctc tctctctctc
       61 tctcaatact gcccagtaag ccactgcagc ggcaacagca gcagcaaagt ttccttttta
      121 ccatccttct tctgggccca tcaaagagtt tgctaggcat ggatgcagtg actgtgtacc
      181 acggcaaaat cagcagggag accggggaga agctcttact cgctaccggg ctggatggaa
      241 gctatctgct gcgagacagc gagagtgtcc ctggcgtgta ctgcctgtgt gttttgtatc
      301 aaggttacat ctacacatat cgagtgtccc agacagaaac aggttcttgg agtgccgaga
      361 cagcacctgg agtacataaa agatttttcc ggaaagtaaa aaatctcatc tcagcgtttc
      421 agaagccgga tcaaggcatc gtgacgcctc tgcagtatcc agttgaaaag tcctctggca
      481 ggggcccaca agctcccaca gggagaagag attctgatat ctgcctgaat gcaccatgaa
      541 gaagagtaac tcactctgta ctctattttc aataatttaa gtatgtgcca agtcttgtat
      601 attgtagata gtacagttca gcgagctgca aatgcctttt aagcacgact ctagtcctgt
      661 aatagcatct cgcctgatgt caaagctgca agtggacgtg gtagataaca agtgctttaa
      721 agtgcggatt ggaaaactga atcccttagg gtatttttag ttgccgtatt tacaaatgag
      781 aaacaattta aaagcacaat gaagacttta cacaagatta atgtcgtttc ttgccaaatg
      841 taaataaaat aaaaatgatc tctttttttt ttttttggtt aaaaaaaa
//
