LOCUS       NM_018990               2661 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens SAM and SH3 domain containing 3 (SASH3), mRNA.
ACCESSION   NM_018990
VERSION     NM_018990.4
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 2661)
  AUTHORS   Novak,W., Berner,J., Svaton,M., Jimenez-Heredia,R.,
            Segarra-Roca,A., Frohne,A., Guiliani,S., Rouhani,D., Eder,S.K.,
            Rottal,A., Trapin,D., Scheuchenstuhl,A., Pickl,W.F.,
            Simonitsch-Klupp,I., Kager,L. and Boztug,K.
  TITLE     Evans syndrome caused by a deleterious mutation affecting the
            adaptor protein SASH3
  JOURNAL   Br J Haematol 203 (4), 678-683 (2023)
   PUBMED   37646304
  REMARK    GeneRIF: Evans syndrome caused by a deleterious mutation affecting
            the adaptor protein SASH3.
REFERENCE   2  (bases 1 to 2661)
  AUTHORS   Delmonte,O.M., Bergerson,J.R.E., Kawai,T., Kuehn,H.S.,
            McDermott,D.H., Cortese,I., Zimmermann,M.T., Dobbs,A.K.,
            Bosticardo,M., Fink,D., Majumdar,S., Palterer,B., Pala,F.,
            Dsouza,N.R., Pouzolles,M., Taylor,N., Calvo,K.R., Daley,S.R.,
            Velez,D., Agharahimi,A., Myint-Hpu,K., Dropulic,L.K., Lyons,J.J.,
            Holland,S.M., Freeman,A.F., Ghosh,R., Similuk,M.B., Niemela,J.E.,
            Stoddard,J., Kuhns,D.B., Urrutia,R., Rosenzweig,S.D.,
            Walkiewicz,M.A., Murphy,P.M. and Notarangelo,L.D.
  TITLE     SASH3 variants cause a novel form of X-linked combined
            immunodeficiency with immune dysregulation
  JOURNAL   Blood 138 (12), 1019-1033 (2021)
   PUBMED   33876203
  REMARK    GeneRIF: SASH3 variants cause a novel form of X-linked combined
            immunodeficiency with immune dysregulation.
REFERENCE   3  (bases 1 to 2661)
  AUTHORS   Barrios-Rodiles,M., Brown,K.R., Ozdamar,B., Bose,R., Liu,Z.,
            Donovan,R.S., Shinjo,F., Liu,Y., Dembowy,J., Taylor,I.W., Luga,V.,
            Przulj,N., Robinson,M., Suzuki,H., Hayashizaki,Y., Jurisica,I. and
            Wrana,J.L.
  TITLE     High-throughput mapping of a dynamic signaling network in mammalian
            cells
  JOURNAL   Science 307 (5715), 1621-1625 (2005)
   PUBMED   15761153
REFERENCE   4  (bases 1 to 2661)
  AUTHORS   Astoul,E., Laurence,A.D., Totty,N., Beer,S., Alexander,D.R. and
            Cantrell,D.A.
  TITLE     Approaches to define antigen receptor-induced serine kinase signal
            transduction pathways
  JOURNAL   J Biol Chem 278 (11), 9267-9275 (2003)
   PUBMED   12515807
REFERENCE   5  (bases 1 to 2661)
  AUTHORS   Beer,S., Simins,A.B., Schuster,A. and Holzmann,B.
  TITLE     Molecular cloning and characterization of a novel SH3 protein (SLY)
            preferentially expressed in lymphoid cells
  JOURNAL   Biochim Biophys Acta 1520 (1), 89-93 (2001)
   PUBMED   11470164
REFERENCE   6  (bases 1 to 2661)
  AUTHORS   Hay,J.C., Chao,D.S., Kuo,C.S. and Scheller,R.H.
  TITLE     Protein interactions regulating vesicle transport between the
            endoplasmic reticulum and Golgi apparatus in mammalian cells
  JOURNAL   Cell 89 (1), 149-158 (1997)
   PUBMED   9094723
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CR975883.1 and BC051881.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_018990.3.
            
            Summary: The protein encoded by this gene contains a Src homology-3
            (SH3) domain and a sterile alpha motif (SAM), both of which are
            found in proteins involved in cell signaling. This protein may
            function as a signaling adapter protein in lymphocytes.[provided by
            RefSeq, Sep 2009].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.983144.1,
                                           SRR1163657.562370.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000356892.4/ ENSP00000349359.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-616               CR975883.1         34-649
            617-2661            BC051881.1         582-2626
FEATURES             Location/Qualifiers
     source          1..2661
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.1"
     gene            1..2661
                     /gene="SASH3"
                     /gene_synonym="753P9; CXorf9; HACS2; IMD102; SH3D6C; SLY"
                     /note="SAM and SH3 domain containing 3"
                     /db_xref="GeneID:54440"
                     /db_xref="HGNC:HGNC:15975"
                     /db_xref="MIM:300441"
     exon            1..206
                     /gene="SASH3"
                     /gene_synonym="753P9; CXorf9; HACS2; IMD102; SH3D6C; SLY"
                     /inference="alignment:Splign:2.1.0"
     CDS             150..1292
                     /gene="SASH3"
                     /gene_synonym="753P9; CXorf9; HACS2; IMD102; SH3D6C; SLY"
                     /note="SH3 protein expressed in lymphocytes homolog"
                     /codon_start=1
                     /product="SAM and SH3 domain-containing protein 3"
                     /protein_id="NP_061863.1"
                     /db_xref="CCDS:CCDS14614.1"
                     /db_xref="GeneID:54440"
                     /db_xref="HGNC:HGNC:15975"
                     /db_xref="MIM:300441"
                     /translation="MLRRKPSNASEKEPTQKKKLSLQRSSSFKDFAKSKPSSPVVSEK
                     EFNLDDNIPEDDSGVPTPEDAGKSGKKLGKKWRAVISRTMNRKMGKMMVKALSEEMAD
                     TLEEGSASPTSPDYSLDSPGPEKMALAFSEQEEHELPVLSRQASTGSELCSPSPGSGS
                     FGEEPPAPQYTGPFCGRARVHTDFTPSPYDHDSLKLQKGDVIQIIEKPPVGTWLGLLN
                     GKVGSFKFIYVDVLPEEAVGHARPSRRQSKGKRPKPKTLHELLERIGLEEHTSTLLLN
                     GYQTLEDFKELRETHLNELNIMDPQHRAKLLTAAELLLDYDTGSEEAEEGAESSQEPV
                     AHTVSEPKVDIPRDSGCFEGSESGRDDAELAGTEEQLQGLSLAGAP"
     exon            207..302
                     /gene="SASH3"
                     /gene_synonym="753P9; CXorf9; HACS2; IMD102; SH3D6C; SLY"
                     /inference="alignment:Splign:2.1.0"
     exon            303..449
                     /gene="SASH3"
                     /gene_synonym="753P9; CXorf9; HACS2; IMD102; SH3D6C; SLY"
                     /inference="alignment:Splign:2.1.0"
     exon            450..591
                     /gene="SASH3"
                     /gene_synonym="753P9; CXorf9; HACS2; IMD102; SH3D6C; SLY"
                     /inference="alignment:Splign:2.1.0"
     exon            592..740
                     /gene="SASH3"
                     /gene_synonym="753P9; CXorf9; HACS2; IMD102; SH3D6C; SLY"
                     /inference="alignment:Splign:2.1.0"
     exon            741..950
                     /gene="SASH3"
                     /gene_synonym="753P9; CXorf9; HACS2; IMD102; SH3D6C; SLY"
                     /inference="alignment:Splign:2.1.0"
     exon            951..1101
                     /gene="SASH3"
                     /gene_synonym="753P9; CXorf9; HACS2; IMD102; SH3D6C; SLY"
                     /inference="alignment:Splign:2.1.0"
     exon            1102..2661
                     /gene="SASH3"
                     /gene_synonym="753P9; CXorf9; HACS2; IMD102; SH3D6C; SLY"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2640..2645
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SASH3"
                     /gene_synonym="753P9; CXorf9; HACS2; IMD102; SH3D6C; SLY"
                     /note="hexamer: AATAAA"
     polyA_site      2661
                     /gene="SASH3"
                     /gene_synonym="753P9; CXorf9; HACS2; IMD102; SH3D6C; SLY"
                     /note="major polyA site"
ORIGIN      
        1 acccccaagc tgccactgca gcagtcagag tggcagctga aggctcggtt catgccgtgc
       61 ccccgggcag ttctggtgag gctaagcaag aggcctctgc atcttgacac ctaggagagc
      121 agggacggag tctcccaggg tggaggacca tgctgcgccg caagccctcc aatgccagtg
      181 agaaggagcc cactcagaag aaaaagctct cccttcagcg ctccagcagc ttcaaggatt
      241 ttgccaaatc caaacccagc tcccccgtgg tgagcgagaa ggagtttaat ctggatgata
      301 acattccaga agatgactca ggtgtcccca ccccagaaga tgctgggaag agtggcaaaa
      361 agctggggaa gaagtggagg gcagtgattt cccgaaccat gaacaggaag atgggcaaga
      421 tgatggtgaa ggccctgtca gaagagatgg cagacactct ggaggagggc tctgcctccc
      481 cgacatctcc agactacagc ctggacagcc ctggccctga gaagatggcg ctggcctttt
      541 ctgagcaaga ggagcatgaa cttccggtgc tcagccgcca ggcatcaaca ggcagtgagc
      601 tctgcagccc cagcccaggt tctggcagct tcggggagga accacctgcc ccccagtaca
      661 cagggccttt ctgtggccgg gcacgagtcc acaccgactt cactcccagc ccctatgacc
      721 acgactcgct gaaactgcag aaaggagatg tgatccagat cattgaaaag ccacctgtgg
      781 gcacgtggct gggcctactc aatggcaagg tgggctcttt caaattcatc tatgtggatg
      841 tgctgcccga ggaggccgtg gggcatgccc gccccagccg ccgacagagc aagggcaaga
      901 ggcccaagcc taagaccctg catgagctgc tggagcgcat cggcctggag gagcacacat
      961 ccaccctcct gctcaatggc taccagacac tggaagactt caaagagctg cgagaaacac
     1021 acctcaatga gctgaacatc atggatccac agcaccgggc caagctgctc acggccgccg
     1081 agctgctgct ggactatgac actggcagtg aggaggctga agagggcgcc gagagcagcc
     1141 aggagccagt ggcacacaca gtgtcggaac ccaaggtgga catcccgcgc gactcaggct
     1201 gctttgaggg ctcggagagc gggcgcgatg acgcagagct ggcaggcact gaggagcagc
     1261 tgcaaggcct ctccctggcc ggggcacctt gaggtggcgg tggcaatagg ccaaggctgg
     1321 gacccagctg caaaggctgt aggagtgggc ccagcctccc gtggtggccc aggtcctgag
     1381 gactggcact gagcctggcc ctgcttcccc agggacactt agggccacag aggccaggcc
     1441 agggccctac aggttccagg ctcagctgga gtggttgggg agtcgcccaa gggcacatcc
     1501 cacctgcctg agccccgccc tccaccagcg actgacagcg cagcccctcc tggcaccaac
     1561 tgctcccctg ccatggccac ggccacagca agtggggcac tgggaaaccc tgcccatgtc
     1621 cctcaccaac aaggcctcca aatcctcctc acccccacac cacctacccc tgtcgcactg
     1681 ctcctgaaaa gggggccaag tcaatgtttc aggtcagtct aaaaacccta gggaagctgg
     1741 ccatttaaaa gaacccaaac tgaccatggg taaatccagt tcccctaaat aaggcctgaa
     1801 gaaatccaca ggtaccattc ccactttcct tctccctagc tttcttagag gtttggccac
     1861 taaatcttat gagacttgaa ccaagtggct tcctctttct aggcttagga cgggttgggg
     1921 ttagaaaggg tgatcactga aggccttgcc tgctctgaca ttctgtgaca ttaaatgtct
     1981 attctcctgt tacctgtggc ctgggacacc agtggggttt atcgagggga ccagaggggc
     2041 ctcaggcttt cagatgaaat ggctcctcct actcacccac tttattcctc tccatgtaat
     2101 tcaggacaag ctgcaacttc ccccagctta acacaatgcc catacctcat acgatatgcg
     2161 ccctcccgtt ccatccctgg ccccctcaaa cgagacttct cacaaggctg attacagatg
     2221 gtcaaacctg gcttccaagg acagaattgc ctctcggaag ccagctgtgg atctgagtcc
     2281 agagttggcc acttgtgtgg gtcctcacaa gcaaagagag cactaaactt gacattgggg
     2341 gtccaccact ccaactttgc tttctgaagg ttttggtgta cattgagccc cagaaggaaa
     2401 ggagagtatc tgtgagtggg ggcctccctt gaccccagta cgaagtctat gccctgaatc
     2461 cccagagtag cccttcctgg tgcccaactg gcctggggac aaacagcgtc cactacatct
     2521 aggactgccg gctaagtgga cacacttctt gacctcctac caggaacttt ggtaaaagct
     2581 agctttgggg aaggggttgg gtgtaaatat gagagggtgg agggagacca gctggtagca
     2641 ataaacatgg gtagaactaa a
//
