LOCUS       NM_001410916            2522 bp    mRNA    linear   PRI 14-OCT-2024
DEFINITION  Homo sapiens microcephalin 1 (MCPH1), transcript variant 10, mRNA.
ACCESSION   NM_001410916 XM_011534759
VERSION     NM_001410916.1
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 2522)
  AUTHORS   Caraffi,S.G., Pollazzon,M., Farooq,M., Fatima,A., Larsen,L.A.,
            Zuntini,R., Napoli,M. and Garavelli,L.
  TITLE     MCPH1: A Novel Case Report and a Review of the Literature
  JOURNAL   Genes (Basel) 13 (4), 634 (2022)
   PUBMED   35456440
  REMARK    GeneRIF: MCPH1: A Novel Case Report and a Review of the Literature.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2522)
  AUTHORS   Khan,N.M., Masoud,M.S., Baig,S.M., Qasim,M. and Chang,J.
  TITLE     Identification of Pathogenic Mutations in Primary Microcephaly-
            (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in
            Consanguineous Pakistani Families
  JOURNAL   Biomed Res Int 2022, 3769948 (2022)
   PUBMED   35281599
  REMARK    GeneRIF: Identification of Pathogenic Mutations in Primary
            Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in
            Consanguineous Pakistani Families.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2522)
  AUTHORS   Kristofova,M. and Wang,Z.Q.
  TITLE     MCPH1, beyond its role deciding the brain size
  JOURNAL   Aging (Albany NY) 13 (20), 23437-23439 (2021)
   PUBMED   34705666
  REMARK    GeneRIF: MCPH1, beyond its role deciding the brain size.
REFERENCE   4  (bases 1 to 2522)
  AUTHORS   Gavvovidis,I., Rost,I., Trimborn,M., Kaiser,F.J., Purps,J.,
            Wiek,C., Hanenberg,H., Neitzel,H. and Schindler,D.
  TITLE     A novel MCPH1 isoform complements the defective chromosome
            condensation of human MCPH1-deficient cells
  JOURNAL   PLoS One 7 (8), e40387 (2012)
   PUBMED   22952573
  REMARK    GeneRIF: MCPH1 encodes different isoforms that are differentially
            regulated at the transcript level and have different functions at
            the protein level
REFERENCE   5  (bases 1 to 2522)
  AUTHORS   Wang,Y.Q. and Su,B.
  TITLE     Molecular evolution of microcephalin, a gene determining human
            brain size
  JOURNAL   Hum Mol Genet 13 (11), 1131-1137 (2004)
   PUBMED   15056608
REFERENCE   6  (bases 1 to 2522)
  AUTHORS   Kumar,A., Markandaya,M. and Girimaji,S.C.
  TITLE     Primary microcephaly: microcephalin and ASPM determine the size of
            the human brain
  JOURNAL   J Biosci 27 (7), 629-632 (2002)
   PUBMED   12571366
  REMARK    GeneRIF: microcephalin and ASPM determine the size of the human
            brain
REFERENCE   7  (bases 1 to 2522)
  AUTHORS   Jackson,A.P., Eastwood,H., Bell,S.M., Adu,J., Toomes,C., Carr,I.M.,
            Roberts,E., Hampshire,D.J., Crow,Y.J., Mighell,A.J., Karbani,G.,
            Jafri,H., Rashid,Y., Mueller,R.F., Markham,A.F. and Woods,C.G.
  TITLE     Identification of microcephalin, a protein implicated in
            determining the size of the human brain
  JOURNAL   Am J Hum Genet 71 (1), 136-142 (2002)
   PUBMED   12046007
  REMARK    GeneRIF: Identification of microcephalin, a protein implicated in
            determining the size of the human brain, which is mapped to the
            MCPH1 locus and is mutated in primary microcephaly.
REFERENCE   8  (bases 1 to 2522)
  AUTHORS   Neitzel,H., Neumann,L.M., Schindler,D., Wirges,A., Tonnies,H.,
            Trimborn,M., Krebsova,A., Richter,R. and Sperling,K.
  TITLE     Premature chromosome condensation in humans associated with
            microcephaly and mental retardation: a novel autosomal recessive
            condition
  JOURNAL   Am J Hum Genet 70 (4), 1015-1022 (2002)
   PUBMED   11857108
REFERENCE   9  (bases 1 to 2522)
  AUTHORS   Jackson,A.P., McHale,D.P., Campbell,D.A., Jafri,H., Rashid,Y.,
            Mannan,J., Karbani,G., Corry,P., Levene,M.I., Mueller,R.F.,
            Markham,A.F., Lench,N.J. and Woods,C.G.
  TITLE     Primary autosomal recessive microcephaly (MCPH1) maps to chromosome
            8p22-pter
  JOURNAL   Am J Hum Genet 63 (2), 541-546 (1998)
   PUBMED   9683597
REFERENCE   10 (bases 1 to 2522)
  AUTHORS   Verloes,A., Drunat,S., Gressens,P. and Passemard,S.
  TITLE     Primary Autosomal Recessive Microcephalies and Seckel Syndrome
            Spectrum Disorders - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301772
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC016065.14 and AC018398.10.
            
            On Aug 17, 2022 this sequence version replaced XM_011534759.4.
            
            Summary: This gene encodes a DNA damage response protein. The
            encoded protein may play a role in G2/M checkpoint arrest via
            maintenance of inhibitory phosphorylation of cyclin-dependent
            kinase 1. Mutations in this gene have been associated with primary
            autosomal recessive microcephaly 1 and premature chromosome
            condensation syndrome. Alternatively spliced transcript variants
            have been described. [provided by RefSeq, Feb 2010].
            
            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 :: SRR14038193.2978617.1,
                                           SRR14372080.2630918.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142670, SAMEA2144335
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-63                AC016065.14        87578-87640         c
            64-155              AC016065.14        84897-84988         c
            156-274             AC016065.14        79384-79502         c
            275-362             AC016065.14        62681-62768         c
            363-477             AC016065.14        58105-58219         c
            478-621             AC016065.14        55171-55314         c
            622-711             AC016065.14        52111-52200         c
            712-1866            AC016065.14        48720-49874         c
            1867-1976           AC016065.14        39015-39124         c
            1977-2014           AC016065.14        16636-16673         c
            2015-2177           AC016065.14        13391-13553         c
            2178-2255           AC018398.10        104802-104879       c
            2256-2522           AC018398.10        59003-59269         c
FEATURES             Location/Qualifiers
     source          1..2522
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     gene            1..2522
                     /gene="MCPH1"
                     /gene_synonym="BRIT1; MCT"
                     /note="microcephalin 1"
                     /db_xref="GeneID:79648"
                     /db_xref="HGNC:HGNC:6954"
                     /db_xref="MIM:607117"
     exon            1..63
                     /gene="MCPH1"
                     /gene_synonym="BRIT1; MCT"
                     /inference="alignment:Splign:2.1.0"
     CDS             42..2276
                     /gene="MCPH1"
                     /gene_synonym="BRIT1; MCT"
                     /note="isoform 9 is encoded by transcript variant 10;
                     BRCT-repeat inhibitor of TERT expression 1"
                     /codon_start=1
                     /product="microcephalin isoform 9"
                     /protein_id="NP_001397845.1"
                     /db_xref="CCDS:CCDS94245.1"
                     /db_xref="GeneID:79648"
                     /db_xref="HGNC:HGNC:6954"
                     /db_xref="MIM:607117"
                     /translation="MAAPILKDVVAYVEVWSSNGTENYSKTFTTQLVDMGAKVSKTFN
                     KQVTHVIFKDGYQSTWDKAQKRGVKLVSVLWVEKCRTAGAHIDESLFPAANMNEHLSS
                     LIKKKRKCMQPKDFNFKTPENDKRFQKKFEKMAKELQRQKTNLDDDVPILLFESNGSL
                     IYTPTIEINSRHHSAMEKRLQEMKEKRENLSPTSSQMIQQSHDNPSNSLCEAPLNISR
                     DTLCSDEYFAGGLHSSFDDLCGNSGCGNQERKLEGSINDIKSDVCISSLVLKANNIHS
                     SPSFTHLDKSSPQKFLSNLSKEEINLQRNIAGKVVTPDQKQAAGMSQETFEEKYRLSP
                     TLSSTKGHLLIHSRPRSSSVKRKRVSHGSHSPPKEKCKRKRSTRRSIMPRLQLCRSED
                     RLQHVAGPALEALSCGESSYDDYFSPDNLKERYSENLPPESQLPSSPAQLSCRSLSKK
                     ERTSIFEMSDFSCVGKKTRTVDITNFTAKTISSPRKTGNGEGRATSSCVTSAPEEALR
                     CCRQAGKEDACPEGNGFSYTIEDPALPKGHDDDLTPLEGSLEEMKEAVGLKSTQNKGT
                     TSKISNSSEGEAQSEHEPCFIVDCNMETSTEEKENLPGGYSGSVKNRPTRHDVLDDSC
                     DGFKDLIKPHEELKKSGRGKKPTRTLVMTSMPSEKQNVVIQVVDKLKGFSIAPDVCET
                     TTHVLSGKPLRTLNVLLGIARGCWVLSYDWVLWSLELGHWISEEPFELSHHFPAAPFS
                     SRST"
     exon            64..155
                     /gene="MCPH1"
                     /gene_synonym="BRIT1; MCT"
                     /inference="alignment:Splign:2.1.0"
     exon            156..274
                     /gene="MCPH1"
                     /gene_synonym="BRIT1; MCT"
                     /inference="alignment:Splign:2.1.0"
     exon            275..362
                     /gene="MCPH1"
                     /gene_synonym="BRIT1; MCT"
                     /inference="alignment:Splign:2.1.0"
     exon            363..477
                     /gene="MCPH1"
                     /gene_synonym="BRIT1; MCT"
                     /inference="alignment:Splign:2.1.0"
     exon            478..621
                     /gene="MCPH1"
                     /gene_synonym="BRIT1; MCT"
                     /inference="alignment:Splign:2.1.0"
     exon            622..711
                     /gene="MCPH1"
                     /gene_synonym="BRIT1; MCT"
                     /inference="alignment:Splign:2.1.0"
     exon            712..1866
                     /gene="MCPH1"
                     /gene_synonym="BRIT1; MCT"
                     /inference="alignment:Splign:2.1.0"
     exon            1867..1976
                     /gene="MCPH1"
                     /gene_synonym="BRIT1; MCT"
                     /inference="alignment:Splign:2.1.0"
     exon            1977..2014
                     /gene="MCPH1"
                     /gene_synonym="BRIT1; MCT"
                     /inference="alignment:Splign:2.1.0"
     exon            2015..2177
                     /gene="MCPH1"
                     /gene_synonym="BRIT1; MCT"
                     /inference="alignment:Splign:2.1.0"
     exon            2178..2255
                     /gene="MCPH1"
                     /gene_synonym="BRIT1; MCT"
                     /inference="alignment:Splign:2.1.0"
     exon            2256..2522
                     /gene="MCPH1"
                     /gene_synonym="BRIT1; MCT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2491..2496
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MCPH1"
                     /gene_synonym="BRIT1; MCT"
                     /note="hexamer: AATAAT"
     regulatory      2498..2503
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MCPH1"
                     /gene_synonym="BRIT1; MCT"
                     /note="hexamer: AATAAA"
     regulatory      2502..2507
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MCPH1"
                     /gene_synonym="BRIT1; MCT"
                     /note="hexamer: AATAAA"
     polyA_site      2507
                     /gene="MCPH1"
                     /gene_synonym="BRIT1; MCT"
                     /note="major polyA site"
     polyA_site      2514
                     /gene="MCPH1"
                     /gene_synonym="BRIT1; MCT"
     polyA_site      2522
                     /gene="MCPH1"
                     /gene_synonym="BRIT1; MCT"
ORIGIN      
        1 aagcaccgcg taggccagct ggccggatcc cgccgtctgt catggcggcc cccatcctga
       61 aagatgtagt ggcctatgtt gaagtgtggt catccaatgg aacagaaaat tattcaaaga
      121 catttacaac acagcttgtg gatatggggg caaaggtttc aaaaactttt aacaaacaag
      181 taactcacgt tatcttcaaa gatggctacc agagcacttg ggacaaagct cagaagagag
      241 gcgtaaagct cgtttcggtg ctctgggtgg aaaaatgcag gacagctgga gcacacattg
      301 atgaatcatt gttccctgca gctaatatga atgaacactt atcaagccta attaaaaaaa
      361 aacgtaaatg tatgcagccc aaagatttta attttaaaac accagaaaat gataagagat
      421 ttcagaagaa atttgagaaa atggctaaag agctacaaag gcaaaaaaca aatctagatg
      481 atgatgtacc tattctctta tttgaatcta atggttcatt aatatatact cccacaattg
      541 aaattaatag taggcaccac agcgcaatgg agaagagatt acaagagatg aaggagaaaa
      601 gggaaaatct ttcccccacc tcttcccaaa tgattcagca gtctcatgat aatccaagta
      661 actctctgtg tgaagcacct ttgaacattt cacgtgatac tttgtgttca gatgaatact
      721 ttgctggtgg cttacactca tcttttgatg atctttgtgg aaactcagga tgtggaaatc
      781 aggaaaggaa gttggaagga tccattaatg acattaaaag tgatgtgtgt atttcttcac
      841 ttgtattgaa agcaaataat attcattcat caccatcttt cactcacctc gataaatcaa
      901 gtcctcagaa atttctgagt aatctttcaa aggaagaaat aaacttgcaa agaaatattg
      961 caggtaaagt agtcacccct gaccaaaagc aggctgcagg tatgtctcag gagacgtttg
     1021 aagagaagta tcgtttgtct cctaccttat cttcaacaaa aggccacctt ttgatacatt
     1081 caagacccag gagttcctca gtaaagagaa aaagagtatc acatggctcc cattcacctc
     1141 cgaaggaaaa atgcaagaga aagaggagca ccaggagatc tatcatgccg aggctgcagc
     1201 tgtgcaggtc ggaagacagg ctgcagcacg tggcgggacc tgccctggag gctcttagct
     1261 gtggggagtc ttcatatgat gactattttt cacctgataa tcttaaggaa aggtattcag
     1321 agaatcttcc tcctgaatct cagctgccat caagccctgc tcagttgagc tgcagaagtc
     1381 tttctaagaa ggagagaaca agcatatttg aaatgtctga tttttcctgc gttggcaaaa
     1441 aaaccagaac agttgacatt accaatttca cagcaaaaac catctccagt cctcggaaaa
     1501 ctggaaatgg tgaaggccgt gcaacttcga gttgcgtgac ttctgcccct gaagaagccc
     1561 taaggtgttg tagacaggct gggaaagaag acgcatgccc agagggaaat ggcttttctt
     1621 acaccattga ggaccctgct cttccaaaag gacatgatga tgatttaact cctttggaag
     1681 gaagccttga agaaatgaaa gaagcggttg gtctgaaaag cacacagaac aaaggtacca
     1741 cttccaaaat atcaaactcc tctgaaggcg aagcccagag tgaacatgag ccatgtttta
     1801 tagttgactg taacatggag acgtctacag aagagaagga aaacttaccc ggaggataca
     1861 gtggaagtgt taaaaataga ccaacaaggc atgatgtttt agatgactca tgtgacggct
     1921 ttaaggacct catcaaacct catgaggaat tgaagaaaag tgggagaggc aaaaagccaa
     1981 caagaacatt agtcatgaca agcatgccat ctgaaaagca gaatgtcgtc atccaggttg
     2041 tggataaatt gaaaggcttt tcaattgcac cagacgtctg tgagaccacg actcacgtgc
     2101 tttccgggaa gccacttcgc accctgaatg tgctgctggg aattgcgcgt ggctgctggg
     2161 ttctctctta tgattgggtg ctatggtctt tagaattggg tcactggatt tctgaggagc
     2221 cgttcgaact gtctcaccac ttccctgcag ctcccttttc atctaggagc acctaaataa
     2281 tgcctaatga aatgaacttt ggaaaagtaa ttttaaagta actatcttag agaactgtgg
     2341 attaaaccat tccagccatc tgatgagggt taaaatgtat attcgtaatc tgacattcca
     2401 aaacacgatt ctttccggat caagcataaa aggcatttgc tcttggaaga ccaagaaaga
     2461 attcatgtgg ttcccattag tctaaaaata aataataaat aaataaatgt ctgagtcatg
     2521 ta
//
