LOCUS       NM_002351               2236 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens SH2 domain containing 1A (SH2D1A), transcript variant
            1, mRNA.
ACCESSION   NM_002351
VERSION     NM_002351.5
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 2236)
  AUTHORS   Gartshteyn,Y., Geraldino-Pardilla,L., Khalili,L., Bukhari,S.,
            Lerrer,S., Winchester,R.J., Askanase,A.D. and Mor,A.
  TITLE     SAP-expressing T peripheral helper cells identify systemic lupus
            erythematosus patients with lupus nephritis
  JOURNAL   Front Immunol 15, 1327437 (2024)
   PUBMED   38550577
  REMARK    GeneRIF: SAP-expressing T peripheral helper cells identify systemic
            lupus erythematosus patients with lupus nephritis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2236)
  AUTHORS   Xiang,Q.M., Jiang,N., Liu,Y.F., Wang,Y.B., Mu,D.A., Liu,R.,
            Sun,L.Y., Zhang,W., Guo,Q. and Li,K.
  TITLE     Overexpression of SH2D1A promotes cancer progression and is
            associated with immune cell infiltration in hepatocellular
            carcinoma via bioinformatics and in vitro study
  JOURNAL   BMC Cancer 23 (1), 1005 (2023)
   PUBMED   37858067
  REMARK    GeneRIF: Overexpression of SH2D1A promotes cancer progression and
            is associated with immune cell infiltration in hepatocellular
            carcinoma via bioinformatics and in vitro study.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2236)
  AUTHORS   Steininger,J., Rossmanith,R., Geier,C.B., Leiss-Piller,A.,
            Thonhauser,L., Weiss,S., Hainfellner,J.A., Freilinger,M.,
            Schmidt,W.M., Eibl,M.M. and Wolf,H.M.
  TITLE     Case Report: Meningoencephalitis With Thrombotic Occlusive
            Vasculopathy in a Young EBV-Naive Boy Is Associated With a Novel
            SH2D1A Mutation
  JOURNAL   Front Immunol 12, 747738 (2021)
   PUBMED   34987501
  REMARK    GeneRIF: Case Report: Meningoencephalitis With Thrombotic Occlusive
            Vasculopathy in a Young EBV-Naive Boy Is Associated With a Novel
            SH2D1A Mutation.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2236)
  AUTHORS   Geng,L., Yang,J., Tang,X., Peng,H., Tian,J., Hu,Z., Liu,Y., Xu,H.
            and Wang,S.
  TITLE     SLAM/SAP Decreased Follicular Regulatory T Cells in Patients with
            Graves' Disease
  JOURNAL   J Immunol Res 2021, 5548463 (2021)
   PUBMED   33987447
  REMARK    GeneRIF: SLAM/SAP Decreased Follicular Regulatory T Cells in
            Patients with Graves' Disease.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2236)
  AUTHORS   Nichols,K.E., Harkin,D.P., Levitz,S., Krainer,M., Kolquist,K.A.,
            Genovese,C., Bernard,A., Ferguson,M., Zuo,L., Snyder,E.,
            Buckler,A.J., Wise,C., Ashley,J., Lovett,M., Valentine,M.B.,
            Look,A.T., Gerald,W., Housman,D.E. and Haber,D.A.
  TITLE     Inactivating mutations in an SH2 domain-encoding gene in X-linked
            lymphoproliferative syndrome
  JOURNAL   Proc Natl Acad Sci U S A 95 (23), 13765-13770 (1998)
   PUBMED   9811875
REFERENCE   6  (bases 1 to 2236)
  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   7  (bases 1 to 2236)
  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
REFERENCE   8  (bases 1 to 2236)
  AUTHORS   Stern,M.H., Soulier,J., Rosenzwajg,M., Nakahara,K., Canki-Klain,N.,
            Aurias,A., Sigaux,F. and Kirsch,I.R.
  TITLE     MTCP-1: a novel gene on the human chromosome Xq28 translocated to
            the T cell receptor alpha/delta locus in mature T cell
            proliferations
  JOURNAL   Oncogene 8 (9), 2475-2483 (1993)
   PUBMED   8361760
REFERENCE   9  (bases 1 to 2236)
  AUTHORS   Skare,J., Wu,B.L., Madan,S., Pulijaal,V., Purtilo,D., Haber,D.,
            Nelson,D., Sylla,B., Grierson,H., Nitowsky,H. et al.
  TITLE     Characterization of three overlapping deletions causing X-linked
            lymphoproliferative disease
  JOURNAL   Genomics 16 (1), 254-255 (1993)
   PUBMED   8387453
REFERENCE   10 (bases 1 to 2236)
  AUTHORS   Meyer,L., Hines,M., Zhang,K. and Nichols,K.E.
  TITLE     X-Linked Lymphoproliferative Disease
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301580
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL023657.1 and AA190204.1.
            
            On Nov 30, 2019 this sequence version replaced NM_002351.4.
            
            Summary: This gene encodes a protein that plays a major role in the
            bidirectional stimulation of T and B cells. This protein contains
            an SH2 domain and a short tail. It associates with the signaling
            lymphocyte-activation molecule, thereby acting as an inhibitor of
            this transmembrane protein by blocking the recruitment of the
            SH2-domain-containing signal-transduction molecule SHP-2 to its
            docking site. This protein can also bind to other related surface
            molecules that are expressed on activated T, B and NK cells,
            thereby modifying signal transduction pathways in these cells.
            Mutations in this gene cause lymphoproliferative syndrome X-linked
            type 1 or Duncan disease, a rare immunodeficiency characterized by
            extreme susceptibility to infection with Epstein-Barr virus, with
            symptoms including severe mononucleosis and malignant lymphoma.
            Multiple transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: AL023657.1, AB586694.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371139.9/ ENSP00000360181.5
            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
            1-1550              AL023657.1         220-1769
            1551-2231           AL023657.1         1774-2454
            2232-2236           AA190204.1         7-11                c
FEATURES             Location/Qualifiers
     source          1..2236
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq25"
     gene            1..2236
                     /gene="SH2D1A"
                     /gene_synonym="DSHP; EBVS; IMD5; LYP; MTCP1; SAP;
                     SAP/SH2D1A; XLP; XLPD; XLPD1"
                     /note="SH2 domain containing 1A"
                     /db_xref="GeneID:4068"
                     /db_xref="HGNC:HGNC:10820"
                     /db_xref="MIM:300490"
     exon            1..217
                     /gene="SH2D1A"
                     /gene_synonym="DSHP; EBVS; IMD5; LYP; MTCP1; SAP;
                     SAP/SH2D1A; XLP; XLPD; XLPD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             81..467
                     /gene="SH2D1A"
                     /gene_synonym="DSHP; EBVS; IMD5; LYP; MTCP1; SAP;
                     SAP/SH2D1A; XLP; XLPD; XLPD1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Duncan disease SH2-protein; T cell signal transduction
                     molecule SAP; SLAM-associated protein; signaling
                     lymphocyte activation molecule-associated protein; SLAM
                     associated protein/SH2 domain protein 1A; signaling
                     lymphocytic activation molecule-associated protein"
                     /codon_start=1
                     /product="SH2 domain-containing protein 1A isoform 1"
                     /protein_id="NP_002342.1"
                     /db_xref="CCDS:CCDS14608.1"
                     /db_xref="GeneID:4068"
                     /db_xref="HGNC:HGNC:10820"
                     /db_xref="MIM:300490"
                     /translation="MDAVAVYHGKISRETGEKLLLATGLDGSYLLRDSESVPGVYCLC
                     VLYHGYIYTYRVSQTETGSWSAETAPGVHKRYFRKIKNLISAFQKPDQGIVIPLQYPV
                     EKKSSARSTQGTTGIREDPDVCLKAP"
     exon            218..281
                     /gene="SH2D1A"
                     /gene_synonym="DSHP; EBVS; IMD5; LYP; MTCP1; SAP;
                     SAP/SH2D1A; XLP; XLPD; XLPD1"
                     /inference="alignment:Splign:2.1.0"
     exon            282..426
                     /gene="SH2D1A"
                     /gene_synonym="DSHP; EBVS; IMD5; LYP; MTCP1; SAP;
                     SAP/SH2D1A; XLP; XLPD; XLPD1"
                     /inference="alignment:Splign:2.1.0"
     exon            427..2236
                     /gene="SH2D1A"
                     /gene_synonym="DSHP; EBVS; IMD5; LYP; MTCP1; SAP;
                     SAP/SH2D1A; XLP; XLPD; XLPD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1610..1615
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SH2D1A"
                     /gene_synonym="DSHP; EBVS; IMD5; LYP; MTCP1; SAP;
                     SAP/SH2D1A; XLP; XLPD; XLPD1"
                     /note="hexamer: AATAAA"
     polyA_site      1629
                     /gene="SH2D1A"
                     /gene_synonym="DSHP; EBVS; IMD5; LYP; MTCP1; SAP;
                     SAP/SH2D1A; XLP; XLPD; XLPD1"
     regulatory      2206..2211
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SH2D1A"
                     /gene_synonym="DSHP; EBVS; IMD5; LYP; MTCP1; SAP;
                     SAP/SH2D1A; XLP; XLPD; XLPD1"
                     /note="hexamer: AATAAA"
     polyA_site      2236
                     /gene="SH2D1A"
                     /gene_synonym="DSHP; EBVS; IMD5; LYP; MTCP1; SAP;
                     SAP/SH2D1A; XLP; XLPD; XLPD1"
                     /note="major polyA site"
ORIGIN      
        1 gacttgtgcc tggctgcagt agcagcggca tctcccttgc acagttctcc tcctcggcct
       61 gcccaagagt ccaccaggcc atggacgcag tggctgtgta tcatggcaaa atcagcaggg
      121 aaaccggcga gaagctcctg cttgccactg ggctggatgg cagctatttg ctgagggaca
      181 gcgagagcgt gccaggcgtg tactgcctat gtgtgctgta tcacggttac atttatacat
      241 accgagtgtc ccagacagaa acaggttctt ggagtgctga gacagcacct ggggtacata
      301 aaagatattt ccggaaaata aaaaatctca tttcagcatt tcagaagcca gatcaaggca
      361 ttgtaatacc tctgcagtat ccagttgaga agaagtcctc agctagaagt acacaaggta
      421 ctacagggat aagagaagat cctgatgtct gcctgaaagc cccatgaaga aaaataaaac
      481 accttgtact ttattttcta taatttaaat atatgctaag tcttatatat tgtagataat
      541 acagttcggt gagctacaaa tgcatttcta aagccattgt agtcctgtaa tggaagcatc
      601 tagcatgtcg tcaaagctga aatggacttt tgtacatagt gaggagcttt gaaacgagga
      661 ttgggaaaaa gtaattccgt aggttatttt cagttattat atttacaaat gggaaacaaa
      721 aggataatga atactttata aaggattaat gtcaattctt gccaaatata aataaaaata
      781 atcctcagtt tttgtgaaaa gctccatttt tagtgaaata ttattttata gctactaatt
      841 ttaaaatgtc ttgcttgatt gtatggtggg aagttggctg gtgtcccttg tctttgccaa
      901 gttctccact agctatggtg tcataggctc ttttgggatt tttgaagctg tatactgtgt
      961 gctaaaacaa gcactaaaca aagagtgaag gatttatgtt taattctgaa agcaaccttc
     1021 ttgcctagtg ttctgatatt ggacagtaaa atccacagac caacctggag ttgaaaatct
     1081 tataatttaa aatatgctct aaacatgttt atcgtatttg atgctacagg atttgaaatt
     1141 gtattacaaa tccaatgaaa tgagtttttc ttttcattta cctctgcccc agttgtttct
     1201 actacatgga agacctcatt ttgaagggaa atttcagcag ctgcagctca tgagtaactg
     1261 atttgtaaca agcctccttt taaagtaacc ctacaaaacc actggaaagt ttatggttgt
     1321 attatttttt aaaaaaattc caagtgattg aaacctacac gagatacaga attttatgcg
     1381 gcattttctt ctcacattta tatttttgtg attttgtgat tgattatatg tcactttgct
     1441 acagggctca cagaattcat tcactcaaca aacataatag ggcgctgagg gcatagaagt
     1501 aaaaacacct ggtccctgct ctcagttcac tgtcttgttg gacgagaaaa caataacgat
     1561 aaaagacagt gaaagaaaat aacgataaaa gacagtgaaa gaaaataaca ataaaagaca
     1621 aggaaaaaat aacaatgaaa gttgataagt acatgataag cgaggttccc cgtgtgtagg
     1681 tagatctggt ctttagaggc agatagatag gtcagtgcaa atactctggt ccatgggcca
     1741 tatgaaaagg ctaagcttca ctgtaaaata ataactggga attctggatt gtgtatgggt
     1801 gttggtgaac ttggttttaa ttagtgaact gctgagagac agagctattc tccatgtact
     1861 ggcaagacct gatttctgag catttaatat ggatgccgtg ggagtacaaa agtggagtgt
     1921 ggcctgagta atgcattatg ggtggtttac catttcttga ggtaaaagca tcacatgaac
     1981 ttgtaaagga atttaaaaat cctactttca taataagttg cataggttta ataattttta
     2041 attatatggc ttgagtttaa attgtaatag gcgtaactaa ttttaactct ataatgtgtt
     2101 cattctggaa taatcctaaa catatgaatt atgtttgcat gttcacttcc aagagccttt
     2161 ttttgaaaaa aagctttttt tgaatcatca agtctttcac atttaaataa agtgtttgaa
     2221 agctttattt acctaa
//
