LOCUS       NM_001198800            2479 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens activating signal cointegrator 1 complex subunit 1
            (ASCC1), transcript variant 2, mRNA.
ACCESSION   NM_001198800
VERSION     NM_001198800.3
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 2479)
  AUTHORS   Chinnam,N.B., Thapar,R., Arvai,A.S., Sarker,A.H., Soll,J.M.,
            Paul,T., Syed,A., Rosenberg,D.J., Hammel,M., Bacolla,A.,
            Katsonis,P., Asthana,A., Tsai,M.S., Ivanov,I., Lichtarge,O.,
            Silverman,R.H., Mosammaparast,N., Tsutakawa,S.E. and Tainer,J.A.
  TITLE     ASCC1 structures and bioinformatics reveal a novel
            helix-clasp-helix RNA-binding motif linked to a two-histidine
            phosphodiesterase
  JOURNAL   J Biol Chem 300 (6), 107368 (2024)
   PUBMED   38750793
  REMARK    GeneRIF: ASCC1 structures and bioinformatics reveal a novel
            helix-clasp-helix RNA-binding motif linked to a two-histidine
            phosphodiesterase.
REFERENCE   2  (bases 1 to 2479)
  AUTHORS   Sharova,M., Guseva,D., Kurenkov,A., Novoselova,O., Murtazina,A. and
            Skoblov,M.
  TITLE     Congenital myopathy as a new phenotype caused by two undescribed
            variants in ASCC1 gene
  JOURNAL   Am J Med Genet A 188 (10), 3100-3105 (2022)
   PUBMED   35838082
  REMARK    GeneRIF: Congenital myopathy as a new phenotype caused by two
            undescribed variants in ASCC1 gene.
REFERENCE   3  (bases 1 to 2479)
  AUTHORS   Meunier,J., Villar-Quiles,R.N., Duband-Goulet,I. and Ferreiro,A.
  TITLE     Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular
            Diseases
  JOURNAL   Int J Mol Sci 22 (11), 6039 (2021)
   PUBMED   34204919
  REMARK    GeneRIF: Inherited Defects of the ASC-1 Complex in Congenital
            Neuromuscular Diseases.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2479)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 2479)
  AUTHORS   Knierim,E., Hirata,H., Wolf,N.I., Morales-Gonzalez,S.,
            Schottmann,G., Tanaka,Y., Rudnik-Schoneborn,S., Orgeur,M.,
            Zerres,K., Vogt,S., van Riesen,A., Gill,E., Seifert,F., Zwirner,A.,
            Kirschner,J., Goebel,H.H., Hubner,C., Stricker,S., Meierhofer,D.,
            Stenzel,W. and Schuelke,M.
  TITLE     Mutations in Subunits of the Activating Signal Cointegrator 1
            Complex Are Associated with Prenatal Spinal Muscular Atrophy and
            Congenital Bone Fractures
  JOURNAL   Am J Hum Genet 98 (3), 473-489 (2016)
   PUBMED   26924529
REFERENCE   6  (bases 1 to 2479)
  AUTHORS   Torices,S., Alvarez-Rodriguez,L., Grande,L., Varela,I., Munoz,P.,
            Pascual,D., Balsa,A., Lopez-Hoyos,M., Martinez-Taboada,V. and
            Fernandez-Luna,J.L.
  TITLE     A Truncated Variant of ASCC1, a Novel Inhibitor of NF-kappaB, Is
            Associated with Disease Severity in Patients with Rheumatoid
            Arthritis
  JOURNAL   J Immunol 195 (11), 5415-5420 (2015)
   PUBMED   26503956
  REMARK    GeneRIF: ASCC1 inhibits NF-kappaB activation and a truncated and
            inactive variant of ASCC1 is associated with a more severe disease,
            which could have clinical value for assessing the progression and
            prognosis of Rheumatoid Arthritis.
REFERENCE   7  (bases 1 to 2479)
  AUTHORS   Orloff,M., Peterson,C., He,X., Ganapathi,S., Heald,B., Yang,Y.R.,
            Bebek,G., Romigh,T., Song,J.H., Wu,W., David,S., Cheng,Y.,
            Meltzer,S.J. and Eng,C.
  TITLE     Germline mutations in MSR1, ASCC1, and CTHRC1 in patients with
            Barrett esophagus and esophageal adenocarcinoma
  JOURNAL   JAMA 306 (4), 410-419 (2011)
   PUBMED   21791690
  REMARK    GeneRIF: Three major genes, MSR1, ASCC1, and CTHRC1 were associated
            with Barrett esophagus/esophageal adenocarcinoma
REFERENCE   8  (bases 1 to 2479)
  AUTHORS   Almeida-Vega,S., Catlow,K., Kenny,S., Dimaline,R. and Varro,A.
  TITLE     Gastrin activates paracrine networks leading to induction of PAI-2
            via MAZ and ASC-1
  JOURNAL   Am J Physiol Gastrointest Liver Physiol 296 (2), G414-G423 (2009)
   PUBMED   19074642
  REMARK    GeneRIF: Gastrin activates paracrine networks leading to induction
            of PAI-2 via MAZ and ASC-1.
REFERENCE   9  (bases 1 to 2479)
  AUTHORS   Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S.,
            Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van
            Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M.,
            Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G.,
            Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J.,
            Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L.,
            Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (bases 1 to 2479)
  AUTHORS   Jung,D.J., Sung,H.S., Goo,Y.W., Lee,H.M., Park,O.K., Jung,S.Y.,
            Lim,J., Kim,H.J., Lee,S.K., Kim,T.S., Lee,J.W. and Lee,Y.C.
  TITLE     Novel transcription coactivator complex containing activating
            signal cointegrator 1
  JOURNAL   Mol Cell Biol 22 (14), 5203-5211 (2002)
   PUBMED   12077347
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK023436.1 and AC022392.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001198800.2.
            
            Summary: This gene encodes a subunit of the activating signal
            cointegrator 1 (ASC-1) complex. The ASC-1 complex is a
            transcriptional coactivator that plays an important role in gene
            transactivation by multiple transcription factors including
            activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and
            serum response factor (SRF). The encoded protein contains an
            N-terminal KH-type RNA-binding motif which is required for AP-1
            transactivation by the ASC-1 complex. Mutations in this gene are
            associated with Barrett esophagus and esophageal adenocarcinoma.
            Alternatively spliced transcripts encoding multiple isoforms have
            been observed for this gene. [provided by RefSeq, Dec 2011].
            
            Transcript Variant: This variant (2) lacks three exons in the
            coding region, which results in a translational frameshift,
            compared to variant 1. Variants 2 and 4 encode the same isoform (b)
            which is shorter and has a distinct C-terminus, compared to isoform
            a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR3476690.37619.1,
                                           SRR1803613.225832.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000672957.1/ ENSP00000500935.1
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1284              AK023436.1         13-1296
            1285-2479           AC022392.5         114250-115444       c
FEATURES             Location/Qualifiers
     source          1..2479
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     gene            1..2479
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /note="activating signal cointegrator 1 complex subunit 1"
                     /db_xref="GeneID:51008"
                     /db_xref="HGNC:HGNC:24268"
                     /db_xref="MIM:614215"
     exon            1..70
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     exon            71..215
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     CDS             104..1177
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /note="isoform b is encoded by transcript variant 2; ASC-1
                     complex subunit P50; trip4 complex subunit p50"
                     /codon_start=1
                     /product="activating signal cointegrator 1 complex subunit
                     1 isoform b"
                     /protein_id="NP_001185729.1"
                     /db_xref="CCDS:CCDS31219.1"
                     /db_xref="GeneID:51008"
                     /db_xref="HGNC:HGNC:24268"
                     /db_xref="MIM:614215"
                     /translation="MEVLRPQLIRIDGRNYRKNPVQEQTYQHEEDEEDFYQGSMECAD
                     EPCDAYEVEQTPQGFRSTLRAPSLLYKHIVGKRGDTRKKIEMETKTSISIPKPGQDGE
                     IVITGQHRNGVISARTRIDVLLDTFRRKQPFTHFLAFFLNEVEVQEGFLRFQEEVLAK
                     CSMDHGVDSSIFQNPKKLHLTIGMLVLLSEEEIQQTCEMLQQCKEEFINDISGGKPLE
                     VEMAGIEYMNDDPGMVDVLYAKVHMKDGSNRLQELVDRVLERFQASGLIVKEWNSVKL
                     HATVMNTLFRKDPNAEGRYNLYTAEGKYIFKERESFDGRNILKLFENFYFGSLKLNSI
                     HISQRFTVDSFGNYASCGQIDFS"
     exon            216..315
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     exon            316..413
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     exon            414..592
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     exon            593..729
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     exon            730..849
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     exon            850..974
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     exon            975..1060
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1061..2479
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1970..1975
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /note="hexamer: ATTAAA"
     polyA_site      1990
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /note="major polyA site"
     regulatory      2461..2466
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /note="hexamer: AATAAA"
     polyA_site      2479
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
ORIGIN      
        1 cctatcgcac gtctgctgca gcagtctcct gtttctcctc ctaccttctc catttttcta
       61 gtccctgcag ggcataattg gaatatcatt tggagaaagt gtcatggaag ttctgcgtcc
      121 acagcttata agaattgatg gccggaatta caggaagaat ccagtccaag aacagaccta
      181 tcaacatgaa gaagatgaag aggacttcta tcaaggctcc atggagtgtg ctgatgagcc
      241 ctgtgatgcc tacgaggtgg agcagacccc acaaggattc cggtctactt tgagggcccc
      301 cagcttgctc tataagcata tagttggaaa gagaggggac actaggaaga aaatagaaat
      361 ggagaccaaa acttctatta gcattcctaa acctggacaa gacggggaaa ttgtaatcac
      421 tggccagcat cgaaatggtg taatttcagc ccgaacacgg attgatgttc ttttggacac
      481 ttttcgaaga aagcagccct tcactcactt ccttgccttt ttcctcaatg aagttgaggt
      541 tcaggaagga ttcctgagat tccaggagga agtactggcg aagtgctcca tggatcatgg
      601 ggttgacagc agcattttcc agaatcctaa aaagcttcat ctaactattg ggatgttggt
      661 gcttttgagt gaggaagaga tccagcagac atgtgagatg ctacagcagt gtaaagagga
      721 attcattaat gatatttctg ggggtaaacc cctagaagtg gagatggcag ggatagaata
      781 catgaatgat gatcctggca tggtggatgt tctttacgcc aaagtccata tgaaagatgg
      841 ctccaacagg ctacaagaat tagttgatcg agtgctggaa cgttttcagg catctggact
      901 aatagtgaaa gagtggaata gtgtgaaact gcatgctaca gttatgaata cactattcag
      961 gaaagacccc aatgctgaag gcaggtacaa tctctacaca gcggaaggca aatatatctt
     1021 caaggaaaga gaatcatttg atggccgaaa tattttaaag ttgtttgaga acttctactt
     1081 tggctcccta aagctgaatt caattcacat ctctcagagg ttcaccgtag acagctttgg
     1141 aaactacgct tcctgtggac aaattgactt ctcctgaggt ggatcttgga aagcactaga
     1201 aactaaacat cttcaccagg tgctgaagaa aagtgtcttc gttttaattg ccaagcaggg
     1261 atgtggacat ttggatggtg actttcctgg gtggttcccc atagattcac cattgcctct
     1321 aatggtgtct acacccgtca tactaccagc tgagatggtg gtgggcataa ggagaatttg
     1381 tgcctataac ccttagtgtg ttctggtttt ttttctttta atttttaaat tgtcgtaaaa
     1441 tactcataaa acatactgtc ttcaccattt ttaagtgcac agttcagtaa cgttaactgt
     1501 taatacattc ataatgctgt gtggccgtca ccgccgtcca tctccatagg cttctcagct
     1561 tgtaaaatgg aaactgtacc cattaaacag taattcccac tcctcccagc ccccgcagcc
     1621 accattctgc tttctgtctc tctggttttg actattctca gtatctcata taagtggaat
     1681 catacagtga cttgtctttt tgtgactggc ttatttcact tagcataatg tcctcaaggt
     1741 tcatccatgt tgtgtcaggt gacaggattt ccttcctgta ttatacatat aatggaatgt
     1801 tccgttacat gtgcgtacca cactctgttc ctccatcagt gaacacttgg cttgcttcct
     1861 cttgactatt gggagtagtg ctaatacaga cacgggggtg caaatatctc tttgagactc
     1921 tgcctttaat tcctttacca cccagagttt tatctttagc aaaataacca ttaaagttgt
     1981 ttgcctttta ctttgcttgg tctatcattt tcctaccaaa gtttgtcctc ttaatatttg
     2041 ttggattcct gttccttcac cccatcccca ccctcatctt cccatgcccc tgatggagtt
     2101 gcagtgttgc agcccttttt tgtttacttt tcaaggcagc agcaaaagaa actgatgata
     2161 tcagcaggac tgtgcagagt tccctggaag aatgtcagcc acaggaggcc ctcactcctc
     2221 cctcaccacg gaccagcaga gggaggcggg aatgctgggg agccccagcc tcccacccct
     2281 gcctcctcac attcttcctc cctccatgtc ctctccttct tctccttcct tattcttgcc
     2341 ttgattcttt ctctctttat attctttaac tgcacttctg aactctgtgt taagttgcta
     2401 cattgtgagg actgtgtcta acagtgagat ttattattgg gactgcacaa atcacttgtg
     2461 aataaaatgt ttaacggtg
//
