LOCUS       NM_001190787            2137 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens multiciliate differentiation and DNA synthesis
            associated cell cycle protein (MCIDAS), mRNA.
ACCESSION   NM_001190787 XR_040410 XR_040411 XR_040412
VERSION     NM_001190787.3
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 2137)
  AUTHORS   Ma,C., Wu,H., Zhu,D., Wang,Y., Shen,Q., Cheng,H., Zhang,J.,
            Geng,H., Liu,Y., He,X., Tao,F., Cao,Y. and Xu,X.
  TITLE     Bi-allelic mutations in MCIDAS and CCNO cause human infertility
            associated with abnormal gamete transport
  JOURNAL   Clin Genet 100 (6), 731-742 (2021)
   PUBMED   34569065
  REMARK    GeneRIF: Bi-allelic mutations in MCIDAS and CCNO cause human
            infertility associated with abnormal gamete transport.
REFERENCE   2  (bases 1 to 2137)
  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   3  (bases 1 to 2137)
  AUTHORS   Lewis,M. and Stracker,T.H.
  TITLE     Transcriptional regulation of multiciliated cell differentiation
  JOURNAL   Semin Cell Dev Biol 110, 51-60 (2021)
   PUBMED   32362381
  REMARK    GeneRIF: Transcriptional regulation of multiciliated cell
            differentiation.
            Review article
REFERENCE   4  (bases 1 to 2137)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 2137)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 2137)
  AUTHORS   Boon,M., Wallmeier,J., Ma,L., Loges,N.T., Jaspers,M., Olbrich,H.,
            Dougherty,G.W., Raidt,J., Werner,C., Amirav,I., Hevroni,A.,
            Abitbul,R., Avital,A., Soferman,R., Wessels,M., O'Callaghan,C.,
            Chung,E.M., Rutman,A., Hirst,R.A., Moya,E., Mitchison,H.M., Van
            Daele,S., De Boeck,K., Jorissen,M., Kintner,C., Cuppens,H. and
            Omran,H.
  TITLE     MCIDAS mutations result in a mucociliary clearance disorder with
            reduced generation of multiple motile cilia
  JOURNAL   Nat Commun 5, 4418 (2014)
   PUBMED   25048963
  REMARK    GeneRIF: MCIDAS mutations result in a mucociliary clearance
            disorder with reduced generation of multiple motile cilia.MCIDAS
            regulates CCNO and FOXJ1 expression.
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2137)
  AUTHORS   Caillat,C., Pefani,D.E., Gillespie,P.J., Taraviras,S., Blow,J.J.,
            Lygerou,Z. and Perrakis,A.
  TITLE     The Geminin and Idas coiled coils preferentially form a heterodimer
            that inhibits Geminin function in DNA replication licensing
  JOURNAL   J Biol Chem 288 (44), 31624-31634 (2013)
   PUBMED   24064211
  REMARK    GeneRIF: The properties of the Idas-Geminin complex suggest it as
            the functional form of Idas and provide a possible mechanism to
            modulate Geminin activity
REFERENCE   8  (bases 1 to 2137)
  AUTHORS   Stubbs,J.L., Vladar,E.K., Axelrod,J.D. and Kintner,C.
  TITLE     Multicilin promotes centriole assembly and ciliogenesis during
            multiciliate cell differentiation
  JOURNAL   Nat Cell Biol 14 (2), 140-147 (2012)
   PUBMED   22231168
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 2137)
  AUTHORS   Pefani,D.E., Dimaki,M., Spella,M., Karantzelis,N., Mitsiki,E.,
            Kyrousi,C., Symeonidou,I.E., Perrakis,A., Taraviras,S. and
            Lygerou,Z.
  TITLE     Idas, a novel phylogenetically conserved geminin-related protein,
            binds to geminin and is required for cell cycle progression
  JOURNAL   J Biol Chem 286 (26), 23234-23246 (2011)
   PUBMED   21543332
  REMARK    GeneRIF: Idas as a novel Geminin binding partner, implicated in
            cell cycle progression, and a putative regulator of
            proliferation-differentiation decisions during development.
REFERENCE   10 (bases 1 to 2137)
  AUTHORS   Zariwala,M.A., Knowles,M.R. and Leigh,M.W.
  TITLE     Primary Ciliary Dyskinesia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301301
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC091977.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 31, 2019 this sequence version replaced NM_001190787.2.
            
            Summary: This gene encodes a member of the geminin family of
            proteins. The encoded nuclear protein is required for the
            generation of multiciliated cells in respiratory epithelium.
            Mutations in this gene cause a rare mucociliary clearance disorder
            associated with recurring respiratory infections in human patients,
            known as reduced generation of multiple motile cilia (RGMC).
            [provided by RefSeq, Sep 2016].
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX383954.2, FR854393.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144120 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000513312.3/ ENSP00000426359.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-297               AC091977.3         177616-177912       c
            298-394             AC091977.3         177432-177528       c
            395-486             AC091977.3         177173-177264       c
            487-559             AC091977.3         173548-173620       c
            560-783             AC091977.3         172773-172996       c
            784-894             AC091977.3         171613-171723       c
            895-2137            AC091977.3         170161-171403       c
FEATURES             Location/Qualifiers
     source          1..2137
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q11.2"
     gene            1..2137
                     /gene="MCIDAS"
                     /gene_synonym="CILD42; IDAS; MCI; MCIN"
                     /note="multiciliate differentiation and DNA synthesis
                     associated cell cycle protein"
                     /db_xref="GeneID:345643"
                     /db_xref="HGNC:HGNC:40050"
                     /db_xref="MIM:614086"
     exon            1..297
                     /gene="MCIDAS"
                     /gene_synonym="CILD42; IDAS; MCI; MCIN"
                     /inference="alignment:Splign:2.1.0"
     CDS             178..1335
                     /gene="MCIDAS"
                     /gene_synonym="CILD42; IDAS; MCI; MCIN"
                     /note="protein Idas; multiciliate cell differentiation 1"
                     /codon_start=1
                     /product="multicilin"
                     /protein_id="NP_001177716.1"
                     /db_xref="CCDS:CCDS54853.1"
                     /db_xref="GeneID:345643"
                     /db_xref="HGNC:HGNC:40050"
                     /db_xref="MIM:614086"
                     /translation="MQACGGGAAGRRAFDSICPNRMLALPGRALLCKPGKPERKFAPP
                     RKFFPGCTGGSPVSVYEDPPDAEPTALPALTTIDLQDLADCSSLLGSDAPPGGDLAAS
                     QNHSHQTEADFNLQDFRDTVDDLISDSSSMMSPTLASGDFPFSPCDISPFGPCLSPPL
                     DPRALQSPPLRPPDVPPPEQYWKEVADQNQRALGDALVENNQLHVTLTQKQEEIASLK
                     ERNVQLKELASRTRHLASVLDKLMITQSRDCGAAAEPFLLKAKAKRSLEELVSAAGQD
                     CAEVDAILREISERCDEALQSRDPKRPRLLPEPANTDTRPGNLHGAFRGLRTDCSRSA
                     LNLSHSELEEGGSFSTRIRSHSTIRTLAFPQGNAFTIRTANGGYKFRWVPS"
     exon            298..394
                     /gene="MCIDAS"
                     /gene_synonym="CILD42; IDAS; MCI; MCIN"
                     /inference="alignment:Splign:2.1.0"
     exon            395..486
                     /gene="MCIDAS"
                     /gene_synonym="CILD42; IDAS; MCI; MCIN"
                     /inference="alignment:Splign:2.1.0"
     exon            487..559
                     /gene="MCIDAS"
                     /gene_synonym="CILD42; IDAS; MCI; MCIN"
                     /inference="alignment:Splign:2.1.0"
     exon            560..783
                     /gene="MCIDAS"
                     /gene_synonym="CILD42; IDAS; MCI; MCIN"
                     /inference="alignment:Splign:2.1.0"
     exon            784..894
                     /gene="MCIDAS"
                     /gene_synonym="CILD42; IDAS; MCI; MCIN"
                     /inference="alignment:Splign:2.1.0"
     exon            895..2137
                     /gene="MCIDAS"
                     /gene_synonym="CILD42; IDAS; MCI; MCIN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2095..2100
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MCIDAS"
                     /gene_synonym="CILD42; IDAS; MCI; MCIN"
                     /note="hexamer: AATATA"
     regulatory      2110..2115
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MCIDAS"
                     /gene_synonym="CILD42; IDAS; MCI; MCIN"
                     /note="hexamer: AAGAAA"
     polyA_site      2121
                     /gene="MCIDAS"
                     /gene_synonym="CILD42; IDAS; MCI; MCIN"
                     /note="major polyA site"
     polyA_site      2137
                     /gene="MCIDAS"
                     /gene_synonym="CILD42; IDAS; MCI; MCIN"
                     /note="major polyA site"
ORIGIN      
        1 cccgccatct ctcagcacct cctcggcagc ccctcggctc cttctcggtc acgcgcctgc
       61 cccaacctct ggctggcttc ggagcctgca ggcactgaag ggagtgcagg gtgtggatcg
      121 ctgccccagc ccgggccgcc gcctccgagc agtcggcacc cggaggcagg aggcacaatg
      181 caggcgtgcg ggggcggcgc ggccggccgt cgggccttcg acagcatctg ccccaacaga
      241 atgctggcac tgccgggccg ggcgctgctc tgcaagccgg ggaagccgga gaggaagttc
      301 gctcctccgc ggaagttctt ccccggatgc acaggcggga gcccggtgtc ggtgtacgag
      361 gatcccccgg acgccgagcc cacagcgctg ccagccctca ccaccataga cctgcaggac
      421 ctcgctgact gctcttcgct actcgggtcc gacgcgccgc ctggtggtga cctggccgcc
      481 tcgcagaacc attcccacca aacggaagca gacttcaatc tgcaagattt cagagacacg
      541 gtggatgatc tcatttcaga ctcatcctct atgatgtcgc ctaccctggc cagcggagac
      601 ttccccttct ctccttgcga catatcacca ttcgggccct gcctctcccc gccactggac
      661 ccacgggccc tgcagtcacc accgctgcgc cctccagacg tgcccccgcc tgagcaatac
      721 tggaaggagg tggcggacca gaaccagaga gcgttgggag acgcgcttgt tgagaataat
      781 caactgcacg tgacattgac ccagaaacag gaggagatcg cctcgctcaa ggagcggaac
      841 gtgcagctga aggaactcgc cagccgaacc cggcacctgg cctcggtgct ggataagctg
      901 atgatcacac agtcccggga ttgtggggcg gcggccgagc ccttcctgct caaggcgaag
      961 gccaaaagga gcctggagga gttggtcagc gctgcggggc aggattgcgc ggaagtggac
     1021 gccatcctga gggagatttc cgagcgctgc gatgaagccc ttcagagccg cgatcccaag
     1081 cggccccgac tgctgccaga gcccgcgaat actgacacca ggcccgggaa cctgcatggc
     1141 gccttccggg ggctgcgcac agactgcagc cggagcgcgt tgaacctgag ccacagtgag
     1201 ctggaggagg gcggctcctt cagcacccgc atccgcagcc acagcaccat ccgcaccctc
     1261 gccttccccc agggcaatgc cttcaccatc agaacagcca acgggggtta caagttccgc
     1321 tgggtcccca gttgagctgt gatgtggtcc cccaaaacac tgccctgtgt ttccactgaa
     1381 gtgcctgggg gcttcccaga actttgcctt caggttgaat gccaccctga aacacttttt
     1441 caggaacaaa agcatcttga taccgatgca ttgtaaattt ctgctacaaa acattgtata
     1501 gcccctcccc ttgtcacagt gaaactctgt ttatatatgt atatgtcaca tatgtcacag
     1561 ccaattttaa aagtatttat ttttagcagc tttgaattat gtatttttag agcagggaag
     1621 gatttagaaa ccatagttac ttttataatt atgtaatgct ctaatattat aagaaggaaa
     1681 agaaggctct aagagattaa gtaatttcct gcaatgggaa acactggaac ctttcaatca
     1741 ctttaactag tcacttaagg actctaggcc cagaagcctg gtttctgggt gaatgttttt
     1801 atacatcact caacttccct cgtcctaaaa ggacacctaa ttttgttact attgaaaatt
     1861 tttattttgg tggccagaat acgaaatcgg gagaggtaac ccaaacagtt gtcttaggaa
     1921 aaggcagatt ctcagaggca atgggctatc aacaaaatag gtgctaagca catttgtttg
     1981 taatgatcat tcatataatt tagaagattt atggtaacag tttatattca ttatccatac
     2041 agttctattt gtgcaaatag aataaccacc tataagcaaa cagtgttaat gagaaatata
     2101 tattgtttta agaaaatagc atataccgca tgaaaaa
//
