LOCUS       NM_001369085            2920 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens activating signal cointegrator 1 complex subunit 1
            (ASCC1), transcript variant 6, mRNA.
ACCESSION   NM_001369085 XM_024448030
VERSION     NM_001369085.1
KEYWORDS    RefSeq.
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 2920)
  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 2920)
  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 2920)
  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 2920)
  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 2920)
  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 2920)
  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 2920)
  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 2920)
  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 2920)
  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 2920)
  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 AL607035.12 and AC022392.5.
            
            On Mar 18, 2019 this sequence version replaced XM_024448030.1.
            
            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].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: SRR1660809.115802.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-314               AL607035.12        40572-40885         c
            315-459             AL607035.12        36938-37082         c
            460-559             AL607035.12        34483-34582         c
            560-657             AL607035.12        27178-27275         c
            658-836             AL607035.12        20562-20740         c
            837-973             AC022392.5         179756-179892       c
            974-1093            AC022392.5         171087-171206       c
            1094-1218           AC022392.5         151275-151399       c
            1219-1304           AC022392.5         146300-146385       c
            1305-1422           AC022392.5         121068-121185       c
            1423-1501           AC022392.5         120552-120630       c
            1502-2920           AC022392.5         114250-115668       c
FEATURES             Location/Qualifiers
     source          1..2920
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     gene            1..2920
                     /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..314
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     CDS             282..1466
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /note="isoform 3 is encoded by transcript variant 6; ASC-1
                     complex subunit P50; trip4 complex subunit p50"
                     /codon_start=1
                     /product="activating signal cointegrator 1 complex subunit
                     1 isoform 3"
                     /protein_id="NP_001356014.1"
                     /db_xref="GeneID:51008"
                     /db_xref="HGNC:HGNC:24268"
                     /db_xref="MIM:614215"
                     /translation="MMKYPGTWPCQGIIGISFGESVMEVLRPQLIRIDGRNYRKNPVQ
                     EQTYQHEEDEEDFYQGSMECADEPCDAYEVEQTPQGFRSTLRAPSLLYKHIVGKRGDT
                     RKKIEMETKTSISIPKPGQDGEIVITGQHRNGVISARTRIDVLLDTFRRKQPFTHFLA
                     FFLNEVEVQEGFLRFQEEVLAKCSMDHGVDSSIFQNPKKLHLTIGMLVLLSEEEIQQT
                     CEMLQQCKEEFINDISGGKPLEVEMAGIEYMNDDPGMVDVLYAKVHMKDGSNRLQELV
                     DRVLERFQASGLIVKEWNSVKLHATVMNTLFRKDPNAEGRYNLYTAEGKYIFKERESF
                     DGRNILKSFALLPRLEYNDAISAHCNLCLPGSSDSPASASQVAGITGVSDAYSQSLPG
                     KS"
     exon            315..459
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     exon            460..559
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     exon            560..657
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     exon            658..836
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     exon            837..973
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     exon            974..1093
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1094..1218
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1219..1304
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1305..1422
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1423..1501
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1502..2920
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2411..2416
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /note="hexamer: ATTAAA"
     polyA_site      2431
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /note="major polyA site"
     regulatory      2902..2907
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /note="hexamer: AATAAA"
     polyA_site      2920
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
ORIGIN      
        1 ctttctaccc tcaatgccga gcacagaacc tggggcagtg tttccactgt gcttccagtc
       61 ccgagcattt cggatgaatg aatgatgaac aaacgacaga acgcagggcg agcagctcag
      121 caaaggtcat gcaggagata gagaagcgct gtgtcatgag tattggatca ttatggattt
      181 ttttctttct cattgtgcag atctattcgc acaactctat cttcaaccag tttgccaggc
      241 ccaccggagg tgcccagtaa aattttgtca aacaaatact gatgatgaag tatcctggga
      301 cttggccctg tcagggcata attggaatat catttggaga aagtgtcatg gaagttctgc
      361 gtccacagct tataagaatt gatggccgga attacaggaa gaatccagtc caagaacaga
      421 cctatcaaca tgaagaagat gaagaggact tctatcaagg ctccatggag tgtgctgatg
      481 agccctgtga tgcctacgag gtggagcaga ccccacaagg attccggtct actttgaggg
      541 cccccagctt gctctataag catatagttg gaaagagagg ggacactagg aagaaaatag
      601 aaatggagac caaaacttct attagcattc ctaaacctgg acaagacggg gaaattgtaa
      661 tcactggcca gcatcgaaat ggtgtaattt cagcccgaac acggattgat gttcttttgg
      721 acacttttcg aagaaagcag cccttcactc acttccttgc ctttttcctc aatgaagttg
      781 aggttcagga aggattcctg agattccagg aggaagtact ggcgaagtgc tccatggatc
      841 atggggttga cagcagcatt ttccagaatc ctaaaaagct tcatctaact attgggatgt
      901 tggtgctttt gagtgaggaa gagatccagc agacatgtga gatgctacag cagtgtaaag
      961 aggaattcat taatgatatt tctgggggta aacccctaga agtggagatg gcagggatag
     1021 aatacatgaa tgatgatcct ggcatggtgg atgttcttta cgccaaagtc catatgaaag
     1081 atggctccaa caggctacaa gaattagttg atcgagtgct ggaacgtttt caggcatctg
     1141 gactaatagt gaaagagtgg aatagtgtga aactgcatgc tacagttatg aatacactat
     1201 tcaggaaaga ccccaatgct gaaggcaggt acaatctcta cacagcggaa ggcaaatata
     1261 tcttcaagga aagagaatca tttgatggcc gaaatatttt aaagagcttt gccttgttgc
     1321 ccaggctgga gtacaatgat gcaatctccg ctcactgcaa cctgtgcctc ccgggttcaa
     1381 gtgattctcc tgcctcagcc tcccaagtag ctgggattac aggtgtctct gatgcatatt
     1441 ctcagagcct accaggaaaa tcctagaatc gagaagggct tgggacacag agagctagtg
     1501 gttgtttgag aacttctact ttggctccct aaagctgaat tcaattcaca tctctcagag
     1561 gttcaccgta gacagctttg gaaactacgc ttcctgtgga caaattgact tctcctgagg
     1621 tggatcttgg aaagcactag aaactaaaca tcttcaccag gtgctgaaga aaagtgtctt
     1681 cgttttaatt gccaagcagg gatgtggaca tttggatggt gactttcctg ggtggttccc
     1741 catagattca ccattgcctc taatggtgtc tacacccgtc atactaccag ctgagatggt
     1801 ggtgggcata aggagaattt gtgcctataa cccttagtgt gttctggttt tttttctttt
     1861 aatttttaaa ttgtcgtaaa atactcataa aacatactgt cttcaccatt tttaagtgca
     1921 cagttcagta acgttaactg ttaatacatt cataatgctg tgtggccgtc accgccgtcc
     1981 atctccatag gcttctcagc ttgtaaaatg gaaactgtac ccattaaaca gtaattccca
     2041 ctcctcccag cccccgcagc caccattctg ctttctgtct ctctggtttt gactattctc
     2101 agtatctcat ataagtggaa tcatacagtg acttgtcttt ttgtgactgg cttatttcac
     2161 ttagcataat gtcctcaagg ttcatccatg ttgtgtcagg tgacaggatt tccttcctgt
     2221 attatacata taatggaatg ttccgttaca tgtgcgtacc acactctgtt cctccatcag
     2281 tgaacacttg gcttgcttcc tcttgactat tgggagtagt gctaatacag acacgggggt
     2341 gcaaatatct ctttgagact ctgcctttaa ttcctttacc acccagagtt ttatctttag
     2401 caaaataacc attaaagttg tttgcctttt actttgcttg gtctatcatt ttcctaccaa
     2461 agtttgtcct cttaatattt gttggattcc tgttccttca ccccatcccc accctcatct
     2521 tcccatgccc ctgatggagt tgcagtgttg cagccctttt ttgtttactt ttcaaggcag
     2581 cagcaaaaga aactgatgat atcagcagga ctgtgcagag ttccctggaa gaatgtcagc
     2641 cacaggaggc cctcactcct ccctcaccac ggaccagcag agggaggcgg gaatgctggg
     2701 gagccccagc ctcccacccc tgcctcctca cattcttcct ccctccatgt cctctccttc
     2761 ttctccttcc ttattcttgc cttgattctt tctctcttta tattctttaa ctgcacttct
     2821 gaactctgtg ttaagttgct acattgtgag gactgtgtct aacagtgaga tttattattg
     2881 ggactgcaca aatcacttgt gaataaaatg tttaacggtg
//
