LOCUS       NM_000377               1829 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens WASP actin nucleation promoting factor (WAS), mRNA.
ACCESSION   NM_000377
VERSION     NM_000377.3
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 1829)
  AUTHORS   Hu,L., Liu,D., Zheng,D., Lu,J., Yuan,X., Li,Y., Shi,F., Shi,X.,
            He,Q.Y., Li,Q. and Zhang,C.Z.
  TITLE     Pan-Cancer Proteomics Analysis Reveals Wiskott-Aldrich Syndrome
            Protein as a Potential Regulator of Programmed Death-Ligand 1
  JOURNAL   J Proteome Res 23 (6), 2195-2205 (2024)
   PUBMED   38661673
  REMARK    GeneRIF: Pan-Cancer Proteomics Analysis Reveals Wiskott-Aldrich
            Syndrome Protein as a Potential Regulator of Programmed
            Death-Ligand 1.
REFERENCE   2  (bases 1 to 1829)
  AUTHORS   Chuong,H.Q., Xinh,P.T., Tram,D.B., Ha,N.T.T., Nguyen,T.M.,
            Anh,P.N.L., Van,N.D., Anh,N.H.M., Dung,P.C., Nghia,H. and Vu,H.A.
  TITLE     Spectrum of WAS gene mutations in Vietnamese patients with
            Wiskott-Aldrich syndrome
  JOURNAL   Pediatr Int 66 (1), e15770 (2024)
   PUBMED   38641933
  REMARK    GeneRIF: Spectrum of WAS gene mutations in Vietnamese patients with
            Wiskott-Aldrich syndrome.
REFERENCE   3  (bases 1 to 1829)
  AUTHORS   R,P., Shanmugam,G., Rakshit,S. and Sarkar,K.
  TITLE     Role of Wiskott Aldrich syndrome protein in haematological
            malignancies: genetics, molecular mechanisms and therapeutic
            strategies
  JOURNAL   Pathol Res Pract 253, 155026 (2024)
   PUBMED   38118219
  REMARK    GeneRIF: Role of Wiskott Aldrich syndrome protein in haematological
            malignancies: genetics, molecular mechanisms and therapeutic
            strategies.
            Review article
REFERENCE   4  (bases 1 to 1829)
  AUTHORS   Chandnani,N., Mandal,A., Gupta,I., Mukherjee,O., Rakshit,S.,
            Shanmugam,G., George,M. and Sarkar,K.
  TITLE     Association of Wiskott-Aldrich syndrome protein (WASp) in
            epigenetic regulation of B cell differentiation in non-small-cell
            lung cancer (NSCLC)
  JOURNAL   Med Oncol 41 (1), 28 (2023)
   PUBMED   38146020
  REMARK    GeneRIF: Association of Wiskott-Aldrich syndrome protein (WASp) in
            epigenetic regulation of B cell differentiation in non-small-cell
            lung cancer (NSCLC).
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1829)
  AUTHORS   Velnati,S., Centonze,S., Rossino,G., Purghe,B., Antona,A.,
            Racca,L., Mula,S., Ruffo,E., Malacarne,V., Malerba,M., Manfredi,M.,
            Graziani,A. and Baldanzi,G.
  TITLE     Wiskott-Aldrich syndrome protein interacts and inhibits
            diacylglycerol kinase alpha promoting IL-2 induction
  JOURNAL   Front Immunol 14, 1043603 (2023)
   PUBMED   37138877
  REMARK    GeneRIF: Wiskott-Aldrich syndrome protein interacts and inhibits
            diacylglycerol kinase alpha promoting IL-2 induction.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1829)
  AUTHORS   Rivero-Lezcano,O.M., Marcilla,A., Sameshima,J.H. and Robbins,K.C.
  TITLE     Wiskott-Aldrich syndrome protein physically associates with Nck
            through Src homology 3 domains
  JOURNAL   Mol Cell Biol 15 (10), 5725-5731 (1995)
   PUBMED   7565724
REFERENCE   7  (bases 1 to 1829)
  AUTHORS   Kwan,S.P., Hagemann,T.L., Radtke,B.E., Blaese,R.M. and Rosen,F.S.
  TITLE     Identification of mutations in the Wiskott-Aldrich syndrome gene
            and characterization of a polymorphic dinucleotide repeat at
            DXS6940, adjacent to the disease gene
  JOURNAL   Proc Natl Acad Sci U S A 92 (10), 4706-4710 (1995)
   PUBMED   7753869
REFERENCE   8  (bases 1 to 1829)
  AUTHORS   Chandra,S., Nagaraj,C.B., Sun,M., Chandrakasan,S. and Zhang,K.
  TITLE     WAS-Related Disorders
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301357
REFERENCE   9  (bases 1 to 1829)
  AUTHORS   Donner,M., Schwartz,M., Carlsson,K.U. and Holmberg,L.
  TITLE     Hereditary X-linked thrombocytopenia maps to the same chromosomal
            region as the Wiskott-Aldrich syndrome
  JOURNAL   Blood 72 (6), 1849-1853 (1988)
   PUBMED   2904289
REFERENCE   10 (bases 1 to 1829)
  AUTHORS   Ata,M., Fisher,O.D. and Holman,C.A.
  TITLE     Inherited thrombocytopenia
  JOURNAL   Lancet 1 (7377), 119-123 (1965)
   PUBMED   4161668
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI910072.1, U19927.1 and
            CF529565.1.
            
            On Aug 31, 2019 this sequence version replaced NM_000377.2.
            
            Summary:  The Wiskott-Aldrich syndrome (WAS) family of proteins
            share similar domain structure, and are involved in transduction of
            signals from receptors on the cell surface to the actin
            cytoskeleton.  The presence of a number of different motifs
            suggests that they are regulated by a number of different stimuli,
            and interact with multiple proteins.  Recent studies have
            demonstrated that these proteins, directly or indirectly, associate
            with the small GTPase, Cdc42, known to regulate formation of actin
            filaments, and the cytoskeletal organizing complex, Arp2/3.
            Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive
            disease characterized by immune dysregulation and
            microthrombocytopenia, and is caused by mutations in the WAS gene.
            The WAS gene product is a cytoplasmic protein, expressed
            exclusively in hematopoietic cells, which show signalling and
            cytoskeletal abnormalities in WAS patients.  A transcript variant
            arising as a result of alternative promoter usage, and containing a
            different 5' UTR sequence, has been described, however, its
            full-length nature is not known. [provided by RefSeq, Jul 2008].
            
            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 :: BC002961.1, SRR14038195.266974.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376701.5/ ENSP00000365891.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-31                BI910072.1         19-49
            32-1820             U19927.1           1-1789
            1821-1829           CF529565.1         14-22               c
FEATURES             Location/Qualifiers
     source          1..1829
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     gene            1..1829
                     /gene="WAS"
                     /gene_synonym="IMD2; SCNX; THC; THC1; WASP; WASPA"
                     /note="WASP actin nucleation promoting factor"
                     /db_xref="GeneID:7454"
                     /db_xref="HGNC:HGNC:12731"
                     /db_xref="MIM:300392"
     exon            1..187
                     /gene="WAS"
                     /gene_synonym="IMD2; SCNX; THC; THC1; WASP; WASPA"
                     /inference="alignment:Splign:2.1.0"
     CDS             56..1564
                     /gene="WAS"
                     /gene_synonym="IMD2; SCNX; THC; THC1; WASP; WASPA"
                     /note="thrombocytopenia 1 (X-linked); wiskott-Aldrich
                     syndrome protein; eczema-thrombocytopenia"
                     /codon_start=1
                     /product="actin nucleation-promoting factor WAS"
                     /protein_id="NP_000368.1"
                     /db_xref="CCDS:CCDS14303.1"
                     /db_xref="GeneID:7454"
                     /db_xref="HGNC:HGNC:12731"
                     /db_xref="MIM:300392"
                     /translation="MSGGPMGGRPGGRGAPAVQQNIPSTLLQDHENQRLFEMLGRKCL
                     TLATAVVQLYLALPPGAEHWTKEHCGAVCFVKDNPQKSYFIRLYGLQAGRLLWEQELY
                     SQLVYSTPTPFFHTFAGDDCQAGLNFADEDEAQAFRALVQEKIQKRNQRQSGDRRQLP
                     PPPTPANEERRGGLPPLPLHPGGDQGGPPVGPLSLGLATVDIQNPDITSSRYRGLPAP
                     GPSPADKKRSGKKKISKADIGAPSGFKHVSHVGWDPQNGFDVNNLDPDLRSLFSRAGI
                     SEAQLTDAETSKLIYDFIEDQGGLEAVRQEMRRQEPLPPPPPPSRGGNQLPRPPIVGG
                     NKGRSGPLPPVPLGIAPPPPTPRGPPPPGRGGPPPPPPPATGRSGPLPPPPPGAGGPP
                     MPPPPPPPPPPPSSGNGPAPPPLPPALVPAGGLAPGGGRGALLDQIRQGIQLNKTPGA
                     PESSALQPPPQSSEGLVGALMHVMQKRSRAIHSSDEGEDQAGDEDEDDEWDD"
     exon            188..328
                     /gene="WAS"
                     /gene_synonym="IMD2; SCNX; THC; THC1; WASP; WASPA"
                     /inference="alignment:Splign:2.1.0"
     exon            329..415
                     /gene="WAS"
                     /gene_synonym="IMD2; SCNX; THC; THC1; WASP; WASPA"
                     /inference="alignment:Splign:2.1.0"
     exon            416..518
                     /gene="WAS"
                     /gene_synonym="IMD2; SCNX; THC; THC1; WASP; WASPA"
                     /inference="alignment:Splign:2.1.0"
     exon            519..560
                     /gene="WAS"
                     /gene_synonym="IMD2; SCNX; THC; THC1; WASP; WASPA"
                     /inference="alignment:Splign:2.1.0"
     exon            561..614
                     /gene="WAS"
                     /gene_synonym="IMD2; SCNX; THC; THC1; WASP; WASPA"
                     /inference="alignment:Splign:2.1.0"
     exon            615..789
                     /gene="WAS"
                     /gene_synonym="IMD2; SCNX; THC; THC1; WASP; WASPA"
                     /inference="alignment:Splign:2.1.0"
     exon            790..832
                     /gene="WAS"
                     /gene_synonym="IMD2; SCNX; THC; THC1; WASP; WASPA"
                     /inference="alignment:Splign:2.1.0"
     exon            833..986
                     /gene="WAS"
                     /gene_synonym="IMD2; SCNX; THC; THC1; WASP; WASPA"
                     /inference="alignment:Splign:2.1.0"
     exon            987..1393
                     /gene="WAS"
                     /gene_synonym="IMD2; SCNX; THC; THC1; WASP; WASPA"
                     /inference="alignment:Splign:2.1.0"
     exon            1394..1508
                     /gene="WAS"
                     /gene_synonym="IMD2; SCNX; THC; THC1; WASP; WASPA"
                     /inference="alignment:Splign:2.1.0"
     exon            1509..1829
                     /gene="WAS"
                     /gene_synonym="IMD2; SCNX; THC; THC1; WASP; WASPA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1797..1802
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WAS"
                     /gene_synonym="IMD2; SCNX; THC; THC1; WASP; WASPA"
                     /note="hexamer: AATAAA"
     polyA_site      1829
                     /gene="WAS"
                     /gene_synonym="IMD2; SCNX; THC; THC1; WASP; WASPA"
                     /note="major polyA site"
ORIGIN      
        1 ctcttcttac cctgcaccca gagcctcgcc agagaagaca agggcagaaa gcaccatgag
       61 tgggggccca atgggaggaa ggcccggggg ccgaggagca ccagcggttc agcagaacat
      121 accctccacc ctcctccagg accacgagaa ccagcgactc tttgagatgc ttggacgaaa
      181 atgcttgacg ctggccactg cagttgttca gctgtacctg gcgctgcccc ctggagctga
      241 gcactggacc aaggagcatt gtggggctgt gtgcttcgtg aaggataacc cccagaagtc
      301 ctacttcatc cgcctttacg gccttcaggc tggtcggctg ctctgggaac aggagctgta
      361 ctcacagctt gtctactcca cccccacccc cttcttccac accttcgctg gagatgactg
      421 ccaagcgggg ctgaactttg cagacgagga cgaggcccag gccttccggg ccctcgtgca
      481 ggagaagata caaaaaagga atcagaggca aagtggagac agacgccagc tacccccacc
      541 accaacacca gccaatgaag agagaagagg agggctccca cccctgcccc tgcatccagg
      601 tggagaccaa ggaggccctc cagtgggtcc gctctccctg gggctggcga cagtggacat
      661 ccagaaccct gacatcacga gttcacgata ccgtgggctc ccagcacctg gacctagccc
      721 agctgataag aaacgctcag ggaagaagaa gatcagcaaa gctgatattg gtgcacccag
      781 tggattcaag catgtcagcc acgtggggtg ggacccccag aatggatttg acgtgaacaa
      841 cctcgaccca gatctgcgga gtctgttctc cagggcagga atcagcgagg cccagctcac
      901 cgacgccgag acctctaaac ttatctacga cttcattgag gaccagggtg ggctggaggc
      961 tgtgcggcag gagatgaggc gccaggagcc acttccgccg cccccaccgc catctcgagg
     1021 agggaaccag ctcccccggc cccctattgt ggggggtaac aagggtcgtt ctggtccact
     1081 gccccctgta cctttgggga ttgccccacc cccaccaaca ccccggggac ccccaccccc
     1141 aggccgaggg ggccctccac caccaccccc tccagctact ggacgttctg gaccactgcc
     1201 ccctccaccc cctggagctg gtgggccacc catgccacca ccaccgccac caccgccacc
     1261 gccgcccagc tccgggaatg gaccagcccc tcccccactc cctcctgctc tggtgcctgc
     1321 cgggggcctg gcccctggtg ggggtcgggg agcgcttttg gatcaaatcc ggcagggaat
     1381 tcagctgaac aagacccctg gggccccaga gagctcagcg ctgcagccac cacctcagag
     1441 ctcagaggga ctggtggggg ccctgatgca cgtgatgcag aagagaagca gagccatcca
     1501 ctcctccgac gaaggggagg accaggctgg cgatgaagat gaagatgatg aatgggatga
     1561 ctgagtggct gagttacttg ctgccctgtg ctcctccccg caggacatgg ctccccctcc
     1621 acctgctctg tgcccaccct ccactctcct cttccaggcc cccaaccccc catttcttcc
     1681 ccaccaaccc ctccaatgct gttatccctg cctggtcctc acactcaccc aacaatccca
     1741 aggccctttt tatacaaaaa ttctcagttc tcttcactca aggattttta aagaaaaata
     1801 aaagaattgt ctttctgtct ctctataaa
//
