LOCUS       NM_001369101            2800 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens activating signal cointegrator 1 complex subunit 1
            (ASCC1), transcript variant 22, mRNA.
ACCESSION   NM_001369101
VERSION     NM_001369101.1
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 2800)
  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 2800)
  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 2800)
  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 2800)
  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 2800)
  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 2800)
  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 2800)
  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 2800)
  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 2800)
  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 2800)
  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.
            
            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 :: SRR1803615.49532.1,
                                           SRR1660805.72482.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-175               AL607035.12        39533-39707         c
            176-320             AL607035.12        36938-37082         c
            321-418             AL607035.12        35939-36036         c
            419-518             AL607035.12        34483-34582         c
            519-616             AL607035.12        27178-27275         c
            617-795             AL607035.12        20562-20740         c
            796-932             AC022392.5         179756-179892       c
            933-1052            AC022392.5         171087-171206       c
            1053-1177           AC022392.5         151275-151399       c
            1178-1263           AC022392.5         146300-146385       c
            1264-1381           AC022392.5         121068-121185       c
            1382-2800           AC022392.5         114250-115668       c
FEATURES             Location/Qualifiers
     source          1..2800
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     gene            1..2800
                     /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..175
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     exon            176..320
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     exon            321..418
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     exon            419..518
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     CDS             424..1389
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /note="isoform 10 is encoded by transcript variant 22;
                     ASC-1 complex subunit P50; trip4 complex subunit p50"
                     /codon_start=1
                     /product="activating signal cointegrator 1 complex subunit
                     1 isoform 10"
                     /protein_id="NP_001356030.1"
                     /db_xref="GeneID:51008"
                     /db_xref="HGNC:HGNC:24268"
                     /db_xref="MIM:614215"
                     /translation="MECADEPCDAYEVEQTPQGFRSTLRAPSLLYKHIVGKRGDTRKK
                     IEMETKTSISIPKPGQDGEIVITGQHRNGVISARTRIDVLLDTFRRKQPFTHFLAFFL
                     NEVEVQEGFLRFQEEVLAKCSMDHGVDSSIFQNPKKLHLTIGMLVLLSEEEIQQTCEM
                     LQQCKEEFINDISGGKPLEVEMAGIEYMNDDPGMVDVLYAKVHMKDGSNRLQELVDRV
                     LERFQASGLIVKEWNSVKLHATVMNTLFRKDPNAEGRYNLYTAEGKYIFKERESFDGR
                     NILKSFALLPRLEYNDAISAHCNLCLPGSSDSPASASQVAGITVV"
     exon            519..616
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     exon            617..795
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     exon            796..932
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     exon            933..1052
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1053..1177
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1178..1263
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1264..1381
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1382..2800
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2291..2296
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /note="hexamer: ATTAAA"
     polyA_site      2311
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /note="major polyA site"
     regulatory      2782..2787
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
                     /note="hexamer: AATAAA"
     polyA_site      2800
                     /gene="ASCC1"
                     /gene_synonym="ASC1p50; CGI-18; p50; SMABF2"
ORIGIN      
        1 agagaacgcg ctcgcgtaga ggaattccgg gtcctcctcc tcgccctacc ttggtttacc
       61 tgcagccgcc tagtcctctt ctccttctct ttgatgattc agggcctcgg cttccctcac
      121 gatattgcag aaagacacag ctttcctctt cctctccaaa ccacctcgaa gcaggggcat
      181 aattggaata tcatttggag aaagtgtcat ggaagttctg cgtccacagc ttataagaat
      241 tgatggccgg aattacagga agaatccagt ccaagaacag acctatcaac atgaagaaga
      301 tgaagaggac ttctatcaag gctggagtgc agtggcgtga tctgggctct ctgcaacctc
      361 tacctcccgg gttcaagcaa ttctcctgcc tcatcttccc cagtagctgg aactacaggc
      421 tccatggagt gtgctgatga gccctgtgat gcctacgagg tggagcagac cccacaagga
      481 ttccggtcta ctttgagggc ccccagcttg ctctataagc atatagttgg aaagagaggg
      541 gacactagga agaaaataga aatggagacc aaaacttcta ttagcattcc taaacctgga
      601 caagacgggg aaattgtaat cactggccag catcgaaatg gtgtaatttc agcccgaaca
      661 cggattgatg ttcttttgga cacttttcga agaaagcagc ccttcactca cttccttgcc
      721 tttttcctca atgaagttga ggttcaggaa ggattcctga gattccagga ggaagtactg
      781 gcgaagtgct ccatggatca tggggttgac agcagcattt tccagaatcc taaaaagctt
      841 catctaacta ttgggatgtt ggtgcttttg agtgaggaag agatccagca gacatgtgag
      901 atgctacagc agtgtaaaga ggaattcatt aatgatattt ctgggggtaa acccctagaa
      961 gtggagatgg cagggataga atacatgaat gatgatcctg gcatggtgga tgttctttac
     1021 gccaaagtcc atatgaaaga tggctccaac aggctacaag aattagttga tcgagtgctg
     1081 gaacgttttc aggcatctgg actaatagtg aaagagtgga atagtgtgaa actgcatgct
     1141 acagttatga atacactatt caggaaagac cccaatgctg aaggcaggta caatctctac
     1201 acagcggaag gcaaatatat cttcaaggaa agagaatcat ttgatggccg aaatatttta
     1261 aagagctttg ccttgttgcc caggctggag tacaatgatg caatctccgc tcactgcaac
     1321 ctgtgcctcc cgggttcaag tgattctcct gcctcagcct cccaagtagc tgggattaca
     1381 gttgtttgag aacttctact ttggctccct aaagctgaat tcaattcaca tctctcagag
     1441 gttcaccgta gacagctttg gaaactacgc ttcctgtgga caaattgact tctcctgagg
     1501 tggatcttgg aaagcactag aaactaaaca tcttcaccag gtgctgaaga aaagtgtctt
     1561 cgttttaatt gccaagcagg gatgtggaca tttggatggt gactttcctg ggtggttccc
     1621 catagattca ccattgcctc taatggtgtc tacacccgtc atactaccag ctgagatggt
     1681 ggtgggcata aggagaattt gtgcctataa cccttagtgt gttctggttt tttttctttt
     1741 aatttttaaa ttgtcgtaaa atactcataa aacatactgt cttcaccatt tttaagtgca
     1801 cagttcagta acgttaactg ttaatacatt cataatgctg tgtggccgtc accgccgtcc
     1861 atctccatag gcttctcagc ttgtaaaatg gaaactgtac ccattaaaca gtaattccca
     1921 ctcctcccag cccccgcagc caccattctg ctttctgtct ctctggtttt gactattctc
     1981 agtatctcat ataagtggaa tcatacagtg acttgtcttt ttgtgactgg cttatttcac
     2041 ttagcataat gtcctcaagg ttcatccatg ttgtgtcagg tgacaggatt tccttcctgt
     2101 attatacata taatggaatg ttccgttaca tgtgcgtacc acactctgtt cctccatcag
     2161 tgaacacttg gcttgcttcc tcttgactat tgggagtagt gctaatacag acacgggggt
     2221 gcaaatatct ctttgagact ctgcctttaa ttcctttacc acccagagtt ttatctttag
     2281 caaaataacc attaaagttg tttgcctttt actttgcttg gtctatcatt ttcctaccaa
     2341 agtttgtcct cttaatattt gttggattcc tgttccttca ccccatcccc accctcatct
     2401 tcccatgccc ctgatggagt tgcagtgttg cagccctttt ttgtttactt ttcaaggcag
     2461 cagcaaaaga aactgatgat atcagcagga ctgtgcagag ttccctggaa gaatgtcagc
     2521 cacaggaggc cctcactcct ccctcaccac ggaccagcag agggaggcgg gaatgctggg
     2581 gagccccagc ctcccacccc tgcctcctca cattcttcct ccctccatgt cctctccttc
     2641 ttctccttcc ttattcttgc cttgattctt tctctcttta tattctttaa ctgcacttct
     2701 gaactctgtg ttaagttgct acattgtgag gactgtgtct aacagtgaga tttattattg
     2761 ggactgcaca aatcacttgt gaataaaatg tttaacggtg
//
