LOCUS       NM_001079               2421 bp    mRNA    linear   PRI 30-APR-2025
DEFINITION  Homo sapiens zeta chain of T cell receptor associated protein
            kinase 70 (ZAP70), transcript variant 1, mRNA.
ACCESSION   NM_001079
VERSION     NM_001079.4
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 2421)
  AUTHORS   Khashei Varnamkhasti,K., Khashei Varnamkhasti,S., Shahrouzian,A.,
            Rahimzadeh,M., Naeimi,L., Naeimi,B. and Naeimi,S.
  TITLE     Genetic evidence for predisposition to acute leukemias due to a
            missense mutation (p.Ser518Arg) in ZAP70 kinase: a case-control
            study
  JOURNAL   BMC Med Genomics 17 (1), 200 (2024)
   PUBMED   39113054
  REMARK    GeneRIF: Genetic evidence for predisposition to acute leukemias due
            to a missense mutation (p.Ser518Arg) in ZAP70 kinase: a
            case-control study.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2421)
  AUTHORS   Deng,S., Zhang,Y., Wang,H., Liang,W., Xie,L., Li,N., Fang,Y.,
            Wang,Y., Liu,J., Chi,H., Sun,Y., Ye,R., Shan,L., Shi,J., Shen,Z.,
            Wang,Y., Wang,S., Brosseau,J.P., Wang,F., Liu,G., Quan,Y. and Xu,J.
  TITLE     ITPRIPL1 binds CD3epsilon to impede T cell activation and enable
            tumor immune evasion
  JOURNAL   Cell 187 (9), 2305-2323 (2024)
   PUBMED   38614099
REFERENCE   3  (bases 1 to 2421)
  AUTHORS   Ghergus,D., Martin,M., Knapp,A.M., Delmotte,F., Joublin-Delavat,A.,
            Jung,S., Schickel,J.N., Mendel,I., Dupuis,A., Drenou,B.,
            Ghesquieres,H., Salles,G., Baseggio,L., Herbrecht,R.,
            Korganow,A.S., Vallat,L., Soulas-Sprauel,P., Meffre,E. and
            Martin,T.
  TITLE     Normal B cells express ZAP70 in chronic lymphocytic leukemia: A
            link between autoimmunity and lymphoproliferation?
  JOURNAL   Am J Hematol 99 (1), 48-56 (2024)
   PUBMED   37853951
  REMARK    GeneRIF: Normal B cells express ZAP70 in chronic lymphocytic
            leukemia: A link between autoimmunity and lymphoproliferation?
REFERENCE   4  (bases 1 to 2421)
  AUTHORS   Zhang,X., Liang,W., Zheng,G. and Li,B.
  TITLE     Decoding the deactivation mechanism of R192W mutation of ZAP-70
            using molecular dynamics simulations and binding free energy
            calculations
  JOURNAL   J Mol Model 29 (12), 371 (2023)
   PUBMED   37953318
  REMARK    GeneRIF: Decoding the deactivation mechanism of R192W mutation of
            ZAP-70 using molecular dynamics simulations and binding free energy
            calculations.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2421)
  AUTHORS   Kuroyama,H., Ikeda,T., Kasai,M., Yamasaki,S., Tatsumi,M.,
            Utsuyama,M., Saito,T. and Hirokawa,K.
  TITLE     Identification of a novel isoform of ZAP-70, truncated ZAP kinase
  JOURNAL   Biochem Biophys Res Commun 315 (4), 935-941 (2004)
   PUBMED   14985102
REFERENCE   6  (bases 1 to 2421)
  AUTHORS   Nel,A.E., Gupta,S., Lee,L., Ledbetter,J.A. and Kanner,S.B.
  TITLE     Ligation of the T-cell antigen receptor (TCR) induces association
            of hSos1, ZAP-70, phospholipase C-gamma 1, and other
            phosphoproteins with Grb2 and the zeta-chain of the TCR
  JOURNAL   J Biol Chem 270 (31), 18428-18436 (1995)
   PUBMED   7629168
REFERENCE   7  (bases 1 to 2421)
  AUTHORS   Isakov,N., Wange,R.L., Burgess,W.H., Watts,J.D., Aebersold,R. and
            Samelson,L.E.
  TITLE     ZAP-70 binding specificity to T cell receptor tyrosine-based
            activation motifs: the tandem SH2 domains of ZAP-70 bind distinct
            tyrosine-based activation motifs with varying affinity
  JOURNAL   J Exp Med 181 (1), 375-380 (1995)
   PUBMED   7528772
REFERENCE   8  (bases 1 to 2421)
  AUTHORS   Iwashima,M., Irving,B.A., van Oers,N.S., Chan,A.C. and Weiss,A.
  TITLE     Sequential interactions of the TCR with two distinct cytoplasmic
            tyrosine kinases
  JOURNAL   Science 263 (5150), 1136-1139 (1994)
   PUBMED   7509083
REFERENCE   9  (bases 1 to 2421)
  AUTHORS   Walkovich,K. and Vander Lugt,M.
  TITLE     ZAP70-Related Combined Immunodeficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301777
REFERENCE   10 (bases 1 to 2421)
  AUTHORS   Chan,A.C., Iwashima,M., Turck,C.W. and Weiss,A.
  TITLE     ZAP-70: a 70 kd protein-tyrosine kinase that associates with the
            TCR zeta chain
  JOURNAL   Cell 71 (4), 649-662 (1992)
   PUBMED   1423621
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC017099.11 and AC016699.10.
            
            On Feb 21, 2020 this sequence version replaced NM_001079.3.
            
            Summary: This gene encodes an enzyme belonging to the protein
            tyrosine kinase family, and it plays a role in T-cell development
            and lymphocyte activation. This enzyme, which is phosphorylated on
            tyrosine residues upon T-cell antigen receptor (TCR) stimulation,
            functions in the initial step of TCR-mediated signal transduction
            in combination with the Src family kinases, Lck and Fyn. This
            enzyme is also essential for thymocyte development. Mutations in
            this gene cause selective T-cell defect, a severe combined
            immunodeficiency disease characterized by a selective absence of
            CD8-positive T-cells. Two transcript variants that encode different
            isoforms have been found for this gene. [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 :: L05148.1, BC053878.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264972.10/ ENSP00000264972.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-99                AC017099.11        223958-224056
            100-178             AC017099.11        224298-224376
            179-601             AC016699.10        5972-6394
            602-762             AC016699.10        7048-7208
            763-901             AC016699.10        14839-14977
            902-989             AC016699.10        15081-15168
            990-1036            AC016699.10        15253-15299
            1037-1088           AC016699.10        15500-15551
            1089-1281           AC016699.10        16476-16668
            1282-1488           AC016699.10        17206-17412
            1489-1681           AC016699.10        19429-19621
            1682-1822           AC016699.10        19713-19853
            1823-1935           AC016699.10        19951-20063
            1936-2421           AC016699.10        21331-21816
FEATURES             Location/Qualifiers
     source          1..2421
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     gene            1..2421
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /note="zeta chain of T cell receptor associated protein
                     kinase 70"
                     /db_xref="GeneID:7535"
                     /db_xref="HGNC:HGNC:12858"
                     /db_xref="MIM:176947"
     exon            1..99
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /inference="alignment:Splign:2.1.0"
     exon            100..178
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /inference="alignment:Splign:2.1.0"
     exon            179..601
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /inference="alignment:Splign:2.1.0"
     CDS             200..2059
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /EC_number="2.7.10.2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     zeta-chain associated protein kinase, 70kD;
                     tyrosine-protein kinase ZAP-70; syk-related tyrosine
                     kinase; zeta chain of T cell receptor associated protein
                     kinase 70kDa; 70 kDa zeta-associated protein; 70 kDa
                     zeta-chain associated protein; zeta-chain (TCR) associated
                     protein kinase 70kDa"
                     /codon_start=1
                     /product="tyrosine-protein kinase ZAP-70 isoform 1"
                     /protein_id="NP_001070.2"
                     /db_xref="CCDS:CCDS33254.1"
                     /db_xref="GeneID:7535"
                     /db_xref="HGNC:HGNC:12858"
                     /db_xref="MIM:176947"
                     /translation="MPDPAAHLPFFYGSISRAEAEEHLKLAGMADGLFLLRQCLRSLG
                     GYVLSLVHDVRFHHFPIERQLNGTYAIAGGKAHCGPAELCEFYSRDPDGLPCNLRKPC
                     NRPSGLEPQPGVFDCLRDAMVRDYVRQTWKLEGEALEQAIISQAPQVEKLIATTAHER
                     MPWYHSSLTREEAERKLYSGAQTDGKFLLRPRKEQGTYALSLIYGKTVYHYLISQDKA
                     GKYCIPEGTKFDTLWQLVEYLKLKADGLIYCLKEACPNSSASNASGAAAPTLPAHPST
                     LTHPQRRIDTLNSDGYTPEPARITSPDKPRPMPMDTSVYESPYSDPEELKDKKLFLKR
                     DNLLIADIELGCGNFGSVRQGVYRMRKKQIDVAIKVLKQGTEKADTEEMMREAQIMHQ
                     LDNPYIVRLIGVCQAEALMLVMEMAGGGPLHKFLVGKREEIPVSNVAELLHQVSMGMK
                     YLEEKNFVHRDLAARNVLLVNRHYAKISDFGLSKALGADDSYYTARSAGKWPLKWYAP
                     ECINFRKFSSRSDVWSYGVTMWEALSYGQKPYKKMKGPEVMAFIEQGKRMECPPECPP
                     ELYALMSDCWIYKWEDRPDFLTVEQRMRACYYSLASKVEGPPGSTQKAEAACA"
     exon            602..762
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /inference="alignment:Splign:2.1.0"
     exon            763..901
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /inference="alignment:Splign:2.1.0"
     exon            902..989
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /inference="alignment:Splign:2.1.0"
     exon            990..1036
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /inference="alignment:Splign:2.1.0"
     exon            1037..1088
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /inference="alignment:Splign:2.1.0"
     exon            1089..1281
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /inference="alignment:Splign:2.1.0"
     exon            1282..1488
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /inference="alignment:Splign:2.1.0"
     exon            1489..1681
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /inference="alignment:Splign:2.1.0"
     exon            1682..1822
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /inference="alignment:Splign:2.1.0"
     exon            1823..1935
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /inference="alignment:Splign:2.1.0"
     exon            1936..2421
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2400..2405
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /note="hexamer: AATAAA"
     polyA_site      2421
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /note="major polyA site"
ORIGIN      
        1 agtttcagac aagcctgctt gccggagctc agcagacacc aggccttccg ggcaggcctg
       61 gcccaccgtg ggcctcagag ctgctgctgg ggcattcaga accggctctc cattggcatt
      121 gggaccagag accccgcaag tggcctgttt gcctggacat ccacctgtac gtccccaggt
      181 ttcgggaggc ccaggggcga tgccagaccc cgcggcgcac ctgcccttct tctacggcag
      241 catctcgcgt gccgaggccg aggagcacct gaagctggcg ggcatggcgg acgggctctt
      301 cctgctgcgc cagtgcctgc gctcgctggg cggctatgtg ctgtcgctcg tgcacgatgt
      361 gcgcttccac cactttccca tcgagcgcca gctcaacggc acctacgcca ttgccggcgg
      421 caaagcgcac tgtggaccgg cagagctctg cgagttctac tcgcgcgacc ccgacgggct
      481 gccctgcaac ctgcgcaagc cgtgcaaccg gccgtcgggc ctcgagccgc agccgggggt
      541 cttcgactgc ctgcgagacg ccatggtgcg tgactacgtg cgccagacgt ggaagctgga
      601 gggcgaggcc ctggagcagg ccatcatcag ccaggccccg caggtggaga agctcattgc
      661 tacgacggcc cacgagcgga tgccctggta ccacagcagc ctgacgcgtg aggaggccga
      721 gcgcaaactt tactctgggg cgcagaccga cggcaagttc ctgctgaggc cgcggaagga
      781 gcagggcaca tacgccctgt ccctcatcta tgggaagacg gtgtaccact acctcatcag
      841 ccaagacaag gcgggcaagt actgcattcc cgagggcacc aagtttgaca cgctctggca
      901 gctggtggag tatctgaagc tgaaggcgga cgggctcatc tactgcctga aggaggcctg
      961 ccccaacagc agtgccagca acgcctcagg ggctgctgct cccacactcc cagcccaccc
     1021 atccacgttg actcatcctc agagacgaat cgacaccctc aactcagatg gatacacccc
     1081 tgagccagca cgcataacgt ccccagacaa accgcggccg atgcccatgg acacgagcgt
     1141 gtatgagagc ccctacagcg acccagagga gctcaaggac aagaagctct tcctgaagcg
     1201 cgataacctc ctcatagctg acattgaact tggctgcggc aactttggct cagtgcgcca
     1261 gggcgtgtac cgcatgcgca agaagcagat cgacgtggcc atcaaggtgc tgaagcaggg
     1321 cacggagaag gcagacacgg aagagatgat gcgcgaggcg cagatcatgc accagctgga
     1381 caacccctac atcgtgcggc tcattggcgt ctgccaggcc gaggccctca tgctggtcat
     1441 ggagatggct gggggcgggc cgctgcacaa gttcctggtc ggcaagaggg aggagatccc
     1501 tgtgagcaat gtggccgagc tgctgcacca ggtgtccatg gggatgaagt acctggagga
     1561 gaagaacttt gtgcaccgtg acctggcggc ccgcaacgtc ctgctggtta accggcacta
     1621 cgccaagatc agcgactttg gcctctccaa agcactgggt gccgacgaca gctactacac
     1681 tgcccgctca gcagggaagt ggccgctcaa gtggtacgca cccgaatgca tcaacttccg
     1741 caagttctcc agccgcagcg atgtctggag ctatggggtc accatgtggg aggccttgtc
     1801 ctacggccag aagccctaca agaagatgaa agggccggag gtcatggcct tcatcgagca
     1861 gggcaagcgg atggagtgcc caccagagtg tccacccgaa ctgtacgcac tcatgagtga
     1921 ctgctggatc tacaagtggg aggatcgccc cgacttcctg accgtggagc agcgcatgcg
     1981 agcctgttac tacagcctgg ccagcaaggt ggaagggccc ccaggcagca cacagaaggc
     2041 tgaggctgcc tgtgcctgag ctcccgctgc ccaggggagc cctccacgcc ggctcttccc
     2101 caccctcagc cccaccccag gtcctgcagt ctggctgagc cctgcttggt tgtctccaca
     2161 cacagctggg ctgtggtagg gggtgtctca ggccacaccg gccttgcatt gcctgcctgg
     2221 ccccctgtcc tctctggctg gggagcaggg aggtccggga gggtgcggct gtgcagcctg
     2281 tcctgggctg gtggctcccg gagggccctg agctgagggc attgcttaca cggatgcctt
     2341 cccctgggcc ctgacattgg agcctgggca tcctcaggtg gtcaggcgta gatcaccaga
     2401 ataaacccag cttccctctt g
//
