LOCUS       NM_138441               3201 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens cyclic GMP-AMP synthase (CGAS), transcript variant 1,
            mRNA.
ACCESSION   NM_138441
VERSION     NM_138441.3
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 3201)
  AUTHORS   Zhang,X., He,B., Lu,J., Bao,Q., Wang,J. and Yang,Y.
  TITLE     The crucial roles and research advances of cGAS-STING pathway in
            liver diseases
  JOURNAL   Ann Med 56 (1), 2394588 (2024)
   PUBMED   39183465
  REMARK    GeneRIF: The crucial roles and research advances of cGAS-STING
            pathway in liver diseases.
            Review article
REFERENCE   2  (bases 1 to 3201)
  AUTHORS   Soh,L.J., Lee,S.Y., Roebuck,M.M. and Wong,P.F.
  TITLE     Unravelling the interplay between ER stress, UPR and the cGAS-STING
            pathway: Implications for osteoarthritis pathogenesis and treatment
            strategy
  JOURNAL   Life Sci 357, 123112 (2024)
   PUBMED   39378929
  REMARK    GeneRIF: Unravelling the interplay between ER stress, UPR and the
            cGAS-STING pathway: Implications for osteoarthritis pathogenesis
            and treatment strategy.
            Review article
REFERENCE   3  (bases 1 to 3201)
  AUTHORS   Lant,S., Hood,A.J.M., Holley,J.A., Ellis,A., Eke,L., Sumner,R.P.,
            Ulaeto,D.O. and Maluquer de Motes,C.
  TITLE     Poxin-deficient poxviruses are sensed by cGAS prior to genome
            replication
  JOURNAL   J Gen Virol 105 (10) (2024)
   PUBMED   39431915
  REMARK    GeneRIF: Poxin-deficient poxviruses are sensed by cGAS prior to
            genome replication.
REFERENCE   4  (bases 1 to 3201)
  AUTHORS   Li,H., Liu,C., Li,R., Zhou,L., Ran,Y., Yang,Q., Huang,H., Lu,H.,
            Song,H., Yang,B., Ru,H., Lin,S. and Zhang,L.
  TITLE     AARS1 and AARS2 sense L-lactate to regulate cGAS as global lysine
            lactyltransferases
  JOURNAL   Nature 634 (8036), 1229-1237 (2024)
   PUBMED   39322678
REFERENCE   5  (bases 1 to 3201)
  AUTHORS   Zannini,L., Cardano,M., Liberi,G. and Buscemi,G.
  TITLE     R-loops and impaired autophagy trigger cGAS-dependent inflammation
            via micronuclei formation in Senataxin-deficient cells
  JOURNAL   Cell Mol Life Sci 81 (1), 339 (2024)
   PUBMED   39120648
  REMARK    GeneRIF: R-loops and impaired autophagy trigger cGAS-dependent
            inflammation via micronuclei formation in Senataxin-deficient
            cells.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3201)
  AUTHORS   Sun,L., Wu,J., Du,F., Chen,X. and Chen,Z.J.
  TITLE     Cyclic GMP-AMP synthase is a cytosolic DNA sensor that activates
            the type I interferon pathway
  JOURNAL   Science 339 (6121), 786-791 (2013)
   PUBMED   23258413
  REMARK    GeneRIF: These results indicate that cGAS is a cytosolic DNA sensor
            that induces interferons by producing the second messenger cGAMP.
REFERENCE   7  (bases 1 to 3201)
  AUTHORS   Wu,J., Sun,L., Chen,X., Du,F., Shi,H., Chen,C. and Chen,Z.J.
  TITLE     Cyclic GMP-AMP is an endogenous second messenger in innate immune
            signaling by cytosolic DNA
  JOURNAL   Science 339 (6121), 826-830 (2013)
   PUBMED   23258412
REFERENCE   8  (bases 1 to 3201)
  AUTHORS   Schoggins,J.W., Wilson,S.J., Panis,M., Murphy,M.Y., Jones,C.T.,
            Bieniasz,P. and Rice,C.M.
  TITLE     A diverse range of gene products are effectors of the type I
            interferon antiviral response
  JOURNAL   Nature 472 (7344), 481-485 (2011)
   PUBMED   21478870
  REMARK    Erratum:[Nature. 2015 Sep 3;525(7567):144. doi:
            10.1038/nature14554.. PMID: 26153858]
REFERENCE   9  (bases 1 to 3201)
  AUTHORS   Rush,J., Moritz,A., Lee,K.A., Guo,A., Goss,V.L., Spek,E.J.,
            Zhang,H., Zha,X.M., Polakiewicz,R.D. and Comb,M.J.
  TITLE     Immunoaffinity profiling of tyrosine phosphorylation in cancer
            cells
  JOURNAL   Nat Biotechnol 23 (1), 94-101 (2005)
   PUBMED   15592455
REFERENCE   10 (bases 1 to 3201)
  AUTHORS   Mungall,A.J., Palmer,S.A., Sims,S.K., Edwards,C.A., Ashurst,J.L.,
            Wilming,L., Jones,M.C., Horton,R., Hunt,S.E., Scott,C.E.,
            Gilbert,J.G., Clamp,M.E., Bethel,G., Milne,S., Ainscough,R.,
            Almeida,J.P., Ambrose,K.D., Andrews,T.D., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J.,
            Barlow,K.F., Bates,K., Beare,D.M., Beasley,H., Beasley,O.,
            Bird,C.P., Blakey,S., Bray-Allen,S., Brook,J., Brown,A.J.,
            Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Carder,C.,
            Carter,N.P., Chapman,J.C., Clark,S.Y., Clark,G., Clee,C.M.,
            Clegg,S., Cobley,V., Collier,R.E., Collins,J.E., Colman,L.K.,
            Corby,N.R., Coville,G.J., Culley,K.M., Dhami,P., Davies,J.,
            Dunn,M., Earthrowl,M.E., Ellington,A.E., Evans,K.A., Faulkner,L.,
            Francis,M.D., Frankish,A., Frankland,J., French,L., Garner,P.,
            Garnett,J., Ghori,M.J., Gilby,L.M., Gillson,C.J., Glithero,R.J.,
            Grafham,D.V., Grant,M., Gribble,S., Griffiths,C., Griffiths,M.,
            Hall,R., Halls,K.S., Hammond,S., Harley,J.L., Hart,E.A.,
            Heath,P.D., Heathcott,R., Holmes,S.J., Howden,P.J., Howe,K.L.,
            Howell,G.R., Huckle,E., Humphray,S.J., Humphries,M.D., Hunt,A.R.,
            Johnson,C.M., Joy,A.A., Kay,M., Keenan,S.J., Kimberley,A.M.,
            King,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A.,
            Leversha,M., Lloyd,C.R., Lloyd,D.M., Loveland,J.E., Lovell,J.,
            Martin,S., Mashreghi-Mohammadi,M., Maslen,G.L., Matthews,L.,
            McCann,O.T., McLaren,S.J., McLay,K., McMurray,A., Moore,M.J.,
            Mullikin,J.C., Niblett,D., Nickerson,T., Novik,K.L., Oliver,K.,
            Overton-Larty,E.K., Parker,A., Patel,R., Pearce,A.V., Peck,A.I.,
            Phillimore,B., Phillips,S., Plumb,R.W., Porter,K.M., Ramsey,Y.,
            Ranby,S.A., Rice,C.M., Ross,M.T., Searle,S.M., Sehra,H.K.,
            Sheridan,E., Skuce,C.D., Smith,S., Smith,M., Spraggon,L.,
            Squares,S.L., Steward,C.A., Sycamore,N., Tamlyn-Hall,G., Tester,J.,
            Theaker,A.J., Thomas,D.W., Thorpe,A., Tracey,A., Tromans,A.,
            Tubby,B., Wall,M., Wallis,J.M., West,A.P., White,S.S.,
            Whitehead,S.L., Whittaker,H., Wild,A., Willey,D.J., Wilmer,T.E.,
            Wood,J.M., Wray,P.W., Wyatt,J.C., Young,L., Younger,R.M.,
            Bentley,D.R., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E.,
            Dunham,I., Rogers,J. and Beck,S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA375117.1, BC108714.1, AK097148.1 and AC019205.4.
            
            On Nov 24, 2018 this sequence version replaced NM_138441.2.
            
            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 :: SRR1660805.43969.1,
                                           SRR1803612.161903.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162946 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370315.4/ ENSP00000359339.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                DA375117.1         34-51
            19-1618             BC108714.1         1-1600
            1619-1779           AK097148.1         1598-1758
            1780-3201           AC019205.4         18429-19850
FEATURES             Location/Qualifiers
     source          1..3201
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q13"
     gene            1..3201
                     /gene="CGAS"
                     /gene_synonym="C6orf150; D4; h-cGAS; MB21D1"
                     /note="cyclic GMP-AMP synthase"
                     /db_xref="GeneID:115004"
                     /db_xref="HGNC:HGNC:21367"
                     /db_xref="MIM:613973"
     exon            1..773
                     /gene="CGAS"
                     /gene_synonym="C6orf150; D4; h-cGAS; MB21D1"
                     /inference="alignment:Splign:2.1.0"
     CDS             117..1685
                     /gene="CGAS"
                     /gene_synonym="C6orf150; D4; h-cGAS; MB21D1"
                     /EC_number="2.7.7.86"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein MB21D1; mab-21 domain-containing protein 1; Mab-21
                     domain containing 1; cGAMP synthase; 2'3'-cGAMP synthase;
                     DANGER family member 4"
                     /codon_start=1
                     /product="cyclic GMP-AMP synthase isoform 1"
                     /protein_id="NP_612450.2"
                     /db_xref="CCDS:CCDS4978.1"
                     /db_xref="GeneID:115004"
                     /db_xref="HGNC:HGNC:21367"
                     /db_xref="MIM:613973"
                     /translation="MQPWHGKAMQRASEAGATAPKASARNARGAPMDPTESPAAPEAA
                     LPKAGKFGPARKSGSRQKKSAPDTQERPPVRATGARAKKAPQRAQDTQPSDATSAPGA
                     EGLEPPAAREPALSRAGSCRQRGARCSTKPRPPPGPWDVPSPGLPVSAPILVRRDAAP
                     GASKLRAVLEKLKLSRDDISTAAGMVKGVVDHLLLRLKCDSAFRGVGLLNTGSYYEHV
                     KISAPNEFDVMFKLEVPRIQLEEYSNTRAYYFVKFKRNPKENPLSQFLEGEILSASKM
                     LSKFRKIIKEEINDIKDTDVIMKRKRGGSPAVTLLISEKISVDITLALESKSSWPAST
                     QEGLRIQNWLSAKVRKQLRLKPFYLVPKHAKEGNGFQEETWRLSFSHIEKEILNNHGK
                     SKTCCENKEEKCCRKDCLKLMKYLLEQLKERFKDKKHLDKFSSYHVKTAFFHVCTQNP
                     QDSQWDRKDLGLCFDNCVTYFLQCLRTEKLENYFIPEFNLFSSNLIDKRSKEFLTKQI
                     EYERNNEFPVFDEF"
     exon            774..993
                     /gene="CGAS"
                     /gene_synonym="C6orf150; D4; h-cGAS; MB21D1"
                     /inference="alignment:Splign:2.1.0"
     exon            994..1230
                     /gene="CGAS"
                     /gene_synonym="C6orf150; D4; h-cGAS; MB21D1"
                     /inference="alignment:Splign:2.1.0"
     exon            1231..1333
                     /gene="CGAS"
                     /gene_synonym="C6orf150; D4; h-cGAS; MB21D1"
                     /inference="alignment:Splign:2.1.0"
     exon            1334..3201
                     /gene="CGAS"
                     /gene_synonym="C6orf150; D4; h-cGAS; MB21D1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3180..3185
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CGAS"
                     /gene_synonym="C6orf150; D4; h-cGAS; MB21D1"
                     /note="hexamer: AATAAA"
     polyA_site      3201
                     /gene="CGAS"
                     /gene_synonym="C6orf150; D4; h-cGAS; MB21D1"
                     /note="major polyA site"
ORIGIN      
        1 gcagactctt gtgtgcccgc cagtagtgct tggtttccaa cagctgctgc tggctcttcc
       61 tcttgcggcc ttttcctgaa acggattctt ctttcgggga acagaaagcg ccagccatgc
      121 agccttggca cggaaaggcc atgcagagag cttccgaggc cggagccact gcccccaagg
      181 cttccgcacg gaatgccagg ggcgccccga tggatcccac cgagtctccg gctgcccccg
      241 aggccgccct gcctaaggcg ggaaagttcg gccccgccag gaagtcggga tcccggcaga
      301 aaaagagcgc cccggacacc caggagaggc cgcccgtccg cgcaactggg gcccgcgcca
      361 aaaaggcccc tcagcgcgcc caggacacgc agccgtctga cgccaccagc gcccctgggg
      421 cagaggggct ggagcctcct gcggctcggg agccggctct ttccagggct ggttcttgcc
      481 gccagagggg cgcgcgctgc tccacgaagc caagacctcc gcccgggccc tgggacgtgc
      541 ccagccccgg cctgccggtc tcggccccca ttctcgtacg gagggatgcg gcgcctgggg
      601 cctcgaagct ccgggcggtt ttggagaagt tgaagctcag ccgcgatgat atctccacgg
      661 cggcggggat ggtgaaaggg gttgtggacc acctgctgct cagactgaag tgcgactccg
      721 cgttcagagg cgtcgggctg ctgaacaccg ggagctacta tgagcacgtg aagatttctg
      781 cacctaatga atttgatgtc atgtttaaac tggaagtccc cagaattcaa ctagaagaat
      841 attccaacac tcgtgcatat tactttgtga aatttaaaag aaatccgaaa gaaaatcctc
      901 tgagtcagtt tttagaaggt gaaatattat cagcttctaa gatgctgtca aagtttagga
      961 aaatcattaa ggaagaaatt aacgacatta aagatacaga tgtcatcatg aagaggaaaa
     1021 gaggagggag ccctgctgta acacttctta ttagtgaaaa aatatctgtg gatataaccc
     1081 tggctttgga atcaaaaagt agctggcctg ctagcaccca agaaggcctg cgcattcaaa
     1141 actggctttc agcaaaagtt aggaagcaac tacgactaaa gccattttac cttgtaccca
     1201 agcatgcaaa ggaaggaaat ggtttccaag aagaaacatg gcggctatcc ttctctcaca
     1261 tcgaaaagga aattttgaac aatcatggaa aatctaaaac gtgctgtgaa aacaaagaag
     1321 agaaatgttg caggaaagat tgtttaaaac taatgaaata ccttttagaa cagctgaaag
     1381 aaaggtttaa agacaaaaaa catctggata aattctcttc ttatcatgtg aaaactgcct
     1441 tctttcacgt atgtacccag aaccctcaag acagtcagtg ggaccgcaaa gacctgggcc
     1501 tctgctttga taactgcgtg acatactttc ttcagtgcct caggacagaa aaacttgaga
     1561 attattttat tcctgaattc aatctattct ctagcaactt aattgacaaa agaagtaagg
     1621 aatttctgac aaagcaaatt gaatatgaaa gaaacaatga gtttccagtt tttgatgaat
     1681 tttgagattg tatttttaga aagatctaag aactagagtc accctaaatc ctggagaata
     1741 caagaaaaat ttgaaaaggg gccagacgct gtggctcaca cctgtaatcc cagctctttg
     1801 gaggccgagg caggcggatc acttgaggtc aggagtttga gaccagcctg accaacatgg
     1861 tgaaactcca tctctactaa aaatataaaa attagccggg catggtgatg catgcctgta
     1921 atcccagcta ctcgggaggc ttagacatga gaatcacttg aacccaggag gtggaggttg
     1981 cagtgagtca agatggcacc actgcactcc atcctgggtg acagagcaag acttcctctc
     2041 aaaaaataaa taaataaata agaaaaataa attaggaaat tattaaaata attttttaga
     2101 aaagcaacaa aataacaaaa attagtgact gtaataattg gaatgtttga aatttgtcac
     2161 agcaataatt gactaaaatg aatgtaaata attattcagt tttcagtttg ttgtaataaa
     2221 ctctaatcag tataaaggat tgactatcct aggaaaaaga ttagtcaagg aataagaagc
     2281 aaaagtagta tttgaaatct aaaaacatta ccatgtttgc tttatcatgc aggcaaataa
     2341 ataaataaat gacattttta ggttggaata aaaaaagata aagtacatat tgccttaatt
     2401 aaattcatca agttcttact gaaaaacagc tctccgccgt gcctggccag gaaatacata
     2461 attttttttt ttttttttta gatggagtct cgctctgtcg cccaggctgg agtccagtgg
     2521 catgatcttg gctcactgca agctctgctt cctgggttca tgccattctc ctgcctcagc
     2581 cttccgagta gctgggacta caggtgcccg ccaccacatc cggctaattt tttgtatttt
     2641 tagtaaagat ggggtttcac catgttagcc aggatggtct cgatctcctt accttgtgat
     2701 ccgcccgcct tggcctccca aagtgctggg attacaggtg tgagccacca cgcctggctg
     2761 aaatacataa tcttaaaaga aaacataaga tactttattt taatatacgt gactaaatgt
     2821 aaaacctaac ttattttctg ttatctattt atttttactt tcagtaacac tttttttatt
     2881 ttaggtagca ttcagcctag aggcaactgc tgtttgttaa atatttcctg ttcatatatt
     2941 ttgcacattt tcttatgggt tagttttctt ctcattgttt tgggaagttc ttaatatatt
     3001 tggggtattt atctttcatt cgttgtctgt gtaacaaata acttctgcca tatgggttgt
     3061 ctgcacattt tttggtgtct tttagtaaac aaggtttttt tgttttgtat tgttttgttt
     3121 attgtaaaga tttttaaatt ttaatggagt tgatttcttt tctcattcaa gcttttgaga
     3181 ataaattgga gttgaatttt t
//
