LOCUS       NM_032436               3799 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens chromosome alignment maintaining phosphoprotein 1
            (CHAMP1), transcript variant 1, mRNA.
ACCESSION   NM_032436 XM_290599
VERSION     NM_032436.4
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 3799)
  AUTHORS   Siouda,M., Dujardin,A.D., Dekeyzer,B., Schaeffer,L. and Mulligan,P.
  TITLE     Chromodomain on Y-like 2 (CDYL2) implicated in mitosis and genome
            stability regulation via interaction with CHAMP1 and POGZ
  JOURNAL   Cell Mol Life Sci 80 (2), 47 (2023)
   PUBMED   36658409
  REMARK    GeneRIF: Chromodomain on Y-like 2 (CDYL2) implicated in mitosis and
            genome stability regulation via interaction with CHAMP1 and POGZ.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3799)
  AUTHORS   Li,F., Sarangi,P., Iyer,D.R., Feng,H., Moreau,L., Nguyen,H.,
            Clairmont,C. and D'Andrea,A.D.
  TITLE     CHAMP1 binds to REV7/FANCV and promotes homologous recombination
            repair
  JOURNAL   Cell Rep 40 (9), 111297 (2022)
   PUBMED   36044844
  REMARK    GeneRIF: CHAMP1 binds to REV7/FANCV and promotes homologous
            recombination repair.
REFERENCE   3  (bases 1 to 3799)
  AUTHORS   Hino,M., Iemura,K., Ikeda,M., Itoh,G. and Tanaka,K.
  TITLE     Chromosome alignment-maintaining phosphoprotein CHAMP1 plays a role
            in cell survival through regulating Mcl-1 expression
  JOURNAL   Cancer Sci 112 (9), 3711-3721 (2021)
   PUBMED   34107118
  REMARK    GeneRIF: Chromosome alignment-maintaining phosphoprotein CHAMP1
            plays a role in cell survival through regulating Mcl-1 expression.
REFERENCE   4  (bases 1 to 3799)
  AUTHORS   Garrity,M., Kavus,H., Rojas-Vasquez,M., Valenzuela,I., Larson,A.,
            Reed,S., Bellus,G., Mignot,C., Munnich,A., Isidor,B. and Chung,W.K.
  TITLE     Neurodevelopmental phenotypes in individuals with pathogenic
            variants in CHAMP1
  JOURNAL   Cold Spring Harb Mol Case Stud 7 (4), a006092 (2021)
   PUBMED   34021018
  REMARK    GeneRIF: Neurodevelopmental phenotypes in individuals with
            pathogenic variants in CHAMP1.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3799)
  AUTHORS   Hempel,M., Cremer,K., Ockeloen,C.W., Lichtenbelt,K.D.,
            Herkert,J.C., Denecke,J., Haack,T.B., Zink,A.M., Becker,J.,
            Wohlleber,E., Johannsen,J., Alhaddad,B., Pfundt,R., Fuchs,S.,
            Wieczorek,D., Strom,T.M., van Gassen,K.L., Kleefstra,T.,
            Kubisch,C., Engels,H. and Lessel,D.
  TITLE     De Novo Mutations in CHAMP1 Cause Intellectual Disability with
            Severe Speech Impairment
  JOURNAL   Am J Hum Genet 97 (3), 493-500 (2015)
   PUBMED   26340335
  REMARK    GeneRIF: De Novo Mutations in CHAMP1 Cause Intellectual Disability
            with Severe Speech Impairment.
REFERENCE   6  (bases 1 to 3799)
  AUTHORS   Itoh,G., Kanno,S., Uchida,K.S., Chiba,S., Sugino,S., Watanabe,K.,
            Mizuno,K., Yasui,A., Hirota,T. and Tanaka,K.
  TITLE     CAMP (C13orf8, ZNF828) is a novel regulator of
            kinetochore-microtubule attachment
  JOURNAL   EMBO J 30 (1), 130-144 (2011)
   PUBMED   21063390
  REMARK    GeneRIF: The study reports a novel protein involved in
            kinetochore-microtubule attachment, chromosome
            alignment-maintaining phosphoprotein (CAMP) (C13orf8, ZNF828).
REFERENCE   7  (bases 1 to 3799)
  AUTHORS   Vermeulen,M., Eberl,H.C., Matarese,F., Marks,H., Denissov,S.,
            Butter,F., Lee,K.K., Olsen,J.V., Hyman,A.A., Stunnenberg,H.G. and
            Mann,M.
  TITLE     Quantitative interaction proteomics and genome-wide profiling of
            epigenetic histone marks and their readers
  JOURNAL   Cell 142 (6), 967-980 (2010)
   PUBMED   20850016
REFERENCE   8  (bases 1 to 3799)
  AUTHORS   Beausoleil,S.A., Villen,J., Gerber,S.A., Rush,J. and Gygi,S.P.
  TITLE     A probability-based approach for high-throughput protein
            phosphorylation analysis and site localization
  JOURNAL   Nat Biotechnol 24 (10), 1285-1292 (2006)
   PUBMED   16964243
REFERENCE   9  (bases 1 to 3799)
  AUTHORS   Beausoleil,S.A., Jedrychowski,M., Schwartz,D., Elias,J.E.,
            Villen,J., Li,J., Cohn,M.A., Cantley,L.C. and Gygi,S.P.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   10 (bases 1 to 3799)
  AUTHORS   Dunham,A., Matthews,L.H., Burton,J., Ashurst,J.L., Howe,K.L.,
            Ashcroft,K.J., Beare,D.M., Burford,D.C., Hunt,S.E.,
            Griffiths-Jones,S., Jones,M.C., Keenan,S.J., Oliver,K., Scott,C.E.,
            Ainscough,R., Almeida,J.P., Ambrose,K.D., Andrews,D.T.,
            Ashwell,R.I., Babbage,A.K., Bagguley,C.L., Bailey,J., Bannerjee,R.,
            Barlow,K.F., Bates,K., Beasley,H., Bird,C.P., Bray-Allen,S.,
            Brown,A.J., Brown,J.Y., Burrill,W., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M.E., Clark,S.Y., Clarke,G., Clee,C.M.,
            Clegg,S.C., Cobley,V., Collins,J.E., Corby,N., Coville,G.J.,
            Deloukas,P., Dhami,P., Dunham,I., Dunn,M., Earthrowl,M.E.,
            Ellington,A.G., Faulkner,L., Frankish,A.G., Frankland,J.,
            French,L., Garner,P., Garnett,J., Gilbert,J.G., Gilson,C.J.,
            Ghori,J., Grafham,D.V., Gribble,S.M., Griffiths,C., Hall,R.E.,
            Hammond,S., Harley,J.L., Hart,E.A., Heath,P.D., Howden,P.J.,
            Huckle,E.J., Hunt,P.J., Hunt,A.R., Johnson,C., Johnson,D., Kay,M.,
            Kimberley,A.M., King,A., Laird,G.K., Langford,C.J., Lawlor,S.,
            Leongamornlert,D.A., Lloyd,D.M., Lloyd,C., Loveland,J.E.,
            Lovell,J., Martin,S., Mashreghi-Mohammadi,M., McLaren,S.J.,
            McMurray,A., Milne,S., Moore,M.J., Nickerson,T., Palmer,S.A.,
            Pearce,A.V., Peck,A.I., Pelan,S., Phillimore,B., Porter,K.M.,
            Rice,C.M., Searle,S., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
            Smith,M., Steward,C.A., Sycamore,N., Tester,J., Thomas,D.W.,
            Tracey,A., Tromans,A., Tubby,B., Wall,M., Wallis,J.M., West,A.P.,
            Whitehead,S.L., Willey,D.L., Wilming,L., Wray,P.W., Wright,M.W.,
            Young,L., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E., Beck,S.,
            Bentley,D.R., Rogers,J. and Ross,M.T.
  TITLE     The DNA sequence and analysis of human chromosome 13
  JOURNAL   Nature 428 (6982), 522-528 (2004)
   PUBMED   15057823
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY122776.1, AK096346.1 and
            BM663717.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_032436.3.
            
            Summary: This gene encodes a zinc finger protein that functions as
            a regulator of chromosome segregation in mitosis. The encoded
            protein is required for correct alignment of chromosomes on the
            metaphase plate, and plays a role in maintaining the attachment of
            sister kinetochores to microtubules from opposite spindle poles.
            Mutations in this gene are associated with an autosomal dominant
            form of intellectual disability. [provided by RefSeq, Jul 2017].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. All three variants encode the same protein.
            
            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 :: BC065237.1, AK096346.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000361283.4/ ENSP00000354730.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                HY122776.1         171-180
            11-3798             AK096346.1         1-3788
            3799-3799           BM663717.1         20-20               c
FEATURES             Location/Qualifiers
     source          1..3799
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q34"
     gene            1..3799
                     /gene="CHAMP1"
                     /gene_synonym="C13orf8; CAMP; CHAMP; MRD40; NEDHILD;
                     ZNF828"
                     /note="chromosome alignment maintaining phosphoprotein 1"
                     /db_xref="GeneID:283489"
                     /db_xref="HGNC:HGNC:20311"
                     /db_xref="MIM:616327"
     exon            1..141
                     /gene="CHAMP1"
                     /gene_synonym="C13orf8; CAMP; CHAMP; MRD40; NEDHILD;
                     ZNF828"
                     /inference="alignment:Splign:2.1.0"
     exon            142..264
                     /gene="CHAMP1"
                     /gene_synonym="C13orf8; CAMP; CHAMP; MRD40; NEDHILD;
                     ZNF828"
                     /inference="alignment:Splign:2.1.0"
     exon            265..3799
                     /gene="CHAMP1"
                     /gene_synonym="C13orf8; CAMP; CHAMP; MRD40; NEDHILD;
                     ZNF828"
                     /inference="alignment:Splign:2.1.0"
     CDS             320..2758
                     /gene="CHAMP1"
                     /gene_synonym="C13orf8; CAMP; CHAMP; MRD40; NEDHILD;
                     ZNF828"
                     /note="zinc finger protein 828"
                     /codon_start=1
                     /product="chromosome alignment-maintaining phosphoprotein
                     1"
                     /protein_id="NP_115812.1"
                     /db_xref="CCDS:CCDS9545.1"
                     /db_xref="GeneID:283489"
                     /db_xref="HGNC:HGNC:20311"
                     /db_xref="MIM:616327"
                     /translation="MEAFQELRKPSARLECDHCSFRGTDYENVQIHMGTIHPEFCDEM
                     DAGGLGKMIFYQKSAKLFHCHKCFFTSKMYSNVYYHITSKHASPDKWNDKPKNQLNKE
                     TDPVKSPPLPEHQKIPCNSAEPKSIPALSMETQKLGSVLSPESPKPTPLTPLEPQKPG
                     SVVSPELQTPLPSPEPSKPASVSSPEPPKSVPVCESQKLAPVPSPEPQKPAPVSPESV
                     KATLSNPKPQKQSHFPETLGPPSASSPESPVLAASPEPWGPSPAASPESRKSARTTSP
                     EPRKPSPSESPEPWKPFPAVSPEPRRPAPAVSPGSWKPGPPGSPRPWKSNPSASSGPW
                     KPAKPAPSVSPGPWKPIPSVSPGPWKPTPSVSSASWKSSSVSPSSWKSPPASPESWKS
                     GPPELRKTAPTLSPEHWKAVPPVSPELRKPGPPLSPEIRSPAGSPELRKPSGSPDLWK
                     LSPDQRKTSPASLDFPESQKSSRGGSPDLWKSSFFIEPQKPVFPETRKPGPSGPSESP
                     KAASDIWKPVLSIDTEPRKPALFPEPAKTAPPASPEARKRALFPEPRKHALFPELPKS
                     ALFSESQKAVELGDELQIDAIDDQKCDILVQEELLASPKKLLEDTLFPSSKKLKKDNQ
                     ESSDAELSSSEYIKTDLDAMDIKGQESSSDQEQVDVESIDFSKENKMDMTSPEQSRNV
                     LQFTEEKEAFISEEEIAKYMKRGKGKYYCKICCCRAMKKGAVLHHLVNKHNVHSPYKC
                     TICGKAFLLESLLKNHVAAHGQSLLKCPRCNFESNFPRGFKKHLTHCQSRHNEEANKK
                     LMEALEPPLEEQQI"
     regulatory      3775..3780
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHAMP1"
                     /gene_synonym="C13orf8; CAMP; CHAMP; MRD40; NEDHILD;
                     ZNF828"
                     /note="hexamer: ATTAAA"
     polyA_site      3799
                     /gene="CHAMP1"
                     /gene_synonym="C13orf8; CAMP; CHAMP; MRD40; NEDHILD;
                     ZNF828"
                     /note="major polyA site"
ORIGIN      
        1 gcgcacccgg atcccggctc ctgcatccag tcgccattcg ggaggccgct gcgctgcagg
       61 gcctcgcgga gccgcccgcg accgcgagcc gggccctccg cgcggtccat cgcccactgg
      121 acgccgcccg cggccggacc ggttcaactt ctcatctttg ttcttcttca tatactatag
      181 gctgtttgct gtggtttagt caaaaagcca tgtagaatgc ctgccttttg aagaccactt
      241 ttaaggtgtc tagtaagaca gcagcagtat tgaaagtttt taaagaatat aaccgtgtgt
      301 gttggtaaca gacagaagaa tggaagcatt ccaggaactt cgtaaaccat cagcacgttt
      361 ggagtgtgac cattgcagtt tcagaggcac agactatgaa aatgtacaaa tccatatggg
      421 taccatccat ccagaatttt gtgatgaaat ggatgctggt gggctaggca aaatgatatt
      481 ttaccagaaa agtgcaaagt tatttcactg ccataaatgc ttcttcacca gcaagatgta
      541 ctctaatgta tactatcaca tcacatccaa acatgcatcc ccagacaaat ggaatgataa
      601 accaaaaaat cagttgaaca aagaaacaga tcctgtgaaa agccctcctc ttcctgaaca
      661 ccagaaaata ccctgcaatt cagcagaacc aaaatccata cctgcccttt caatggaaac
      721 acagaaactt ggttcagttt tgtctccaga atcgccaaaa cctactcctc ttactcccct
      781 ggagcctcag aaacctggct ctgttgtttc tcctgagcta cagacacctc ttccttctcc
      841 tgagccttca aaacctgcct ctgtttcttc tcctgaacct ccaaaatcag tccctgtttg
      901 tgagtctcag aaacttgccc ctgttccttc tccagaacca cagaaacctg cccctgtatc
      961 tcctgagtca gtaaaggcta ctcttagtaa tcccaaaccc cagaagcagt ctcatttccc
     1021 ggaaacattg gggccacctt cagcctcatc tccagagtca ccagttctag ctgcttcccc
     1081 agaaccttgg ggaccatccc cagctgcatc tccagaatct cggaagtcag cccggactac
     1141 ctcccctgag ccaaggaagc catccccttc agagtctcct gaaccttgga agccgttccc
     1201 tgctgtctcc ccagagccta ggagaccagc ccccgctgtg tcaccaggct cttggaaacc
     1261 agggccacct gggtccccta ggccttggaa atccaatcct tcagcatcat caggaccttg
     1321 gaagccagct aaacctgctc catctgtgtc tcctggacct tggaaaccaa ttccttctgt
     1381 atctcctgga ccttggaaac caactccatc tgtgtcttct gcatcctgga aatcttcatc
     1441 agtctcaccc agctcctgga agtctccccc tgcatctcct gagtcatgga agtctggccc
     1501 accagaactc cgaaagacag ctcccacgtt gtctcctgaa cattggaagg cagttccccc
     1561 agtgtctcca gagcttcgca aacccggccc accactatcc ccagagatcc gtagtccagc
     1621 aggatctcca gagctcagaa aaccctcagg gtcaccagat ctttggaagc tttctcctga
     1681 tcagcggaaa acttctcctg cttcacttga tttccctgag tcccagaaaa gttcccgtgg
     1741 tggttctcct gatctctgga agtcttcctt ttttattgag cctcagaaac ctgtcttccc
     1801 tgagacccga aaaccaggtc cttctgggcc atctgagtcc cccaaagcag cctcagatat
     1861 ctggaagcct gttctctcta tcgatactga gcctagaaaa cctgccctgt ttcccgagcc
     1921 tgccaaaaca gcccctcctg cttctccaga agcacgcaaa cgtgcccttt ttccagagcc
     1981 ccggaagcat gcccttttcc ctgaactccc caaatctgct ctattctcag aatcacagaa
     2041 ggctgttgag cttggtgatg aactacaaat agatgccata gatgatcaaa aatgtgatat
     2101 tttggttcag gaagaacttc tagcttcacc taagaaactc ttagaagata ctttatttcc
     2161 ttcctcaaag aagctcaaga aagacaacca agagagctca gacgctgagc ttagtagtag
     2221 tgagtacata aaaacagatt tggatgcgat ggatattaag ggccaggaat caagcagtga
     2281 tcaagagcag gttgatgtgg aatccattga ttttagcaaa gagaacaaaa tggacatgac
     2341 tagtccagag cagtctagaa atgtgctaca gtttactgaa gaaaaagaag cttttatctc
     2401 tgaagaggag attgcaaaat acatgaagcg tggaaaagga aagtattatt gcaaaatttg
     2461 ttgctgtcgt gctatgaaaa aaggtgctgt tttgcatcat ttggttaata agcataatgt
     2521 tcatagccct tacaaatgca caatctgtgg aaaggctttt cttttggaat ctctccttaa
     2581 aaatcatgta gcagcccatg ggcaaagttt acttaaatgt ccacgttgta attttgaatc
     2641 aaatttccca agaggtttta agaaacattt aactcattgt caaagccggc ataatgaaga
     2701 ggcaaataaa aagctaatgg aagctcttga accgccactg gaggagcagc aaatttgata
     2761 acacagtgtg aatatttgtt ctacaaaggt gtttgttgga accattcttt gtaagtatag
     2821 cttatcagat agcatagttg gatcagtaga tgacatgtat ggtgtaccgt gtttcactgt
     2881 ctcagttgtg ttactaagaa tgagcatttg atcatttttt tctggtctct gtctatgtga
     2941 ctatcttgta agtcaataaa tttctgtata gtccagatgg attaaacttc tcatttcttt
     3001 taaatatgta tgaataataa tacaaggaag taggcattcc atttaataat caagagcaag
     3061 ttgtactcaa agcattcagt taaagtgtat ctgtgtgtgg aactaatttc agacaataga
     3121 aaatattagt tgaaatgttt aagaattagg catgaaaaat aaatttgaga aattttgttt
     3181 ccttacatgt atttttaaat cataagagtt attttctatc tgatgtaaaa ttagtttata
     3241 aatcttaatc agcttctaga tgtttattag cttttatgtc atgaaatgtt ggagtctcag
     3301 ggttgctgat tttctgctaa tgggaaaaat tgactaagtc tttaaaatag tttgcagcct
     3361 tctcccacag gagacaagtg aaagataagt gtgattttag atctttcttg tccatagttg
     3421 ttttcagtgg agtcttccat tctgtatctt accctaagat ctggttcttc cctccccatc
     3481 cccacccccc acccaccgcc tgccagctca cactaataga tgattcttaa ttgccaaatg
     3541 tgttagagtt tgtatatcct actcctgggc cttacatgtc gcctgttggg gcttaagacc
     3601 aggttgataa gtaggaactg aaagtcttcc agattcacag tagaaaattt tatagacatt
     3661 tctgttaaag aaatatatcg attttatgtt tttcaattat gttactgtaa ataccttgta
     3721 cctgttcatg gattatttta ttctaaaata ttttgtcaaa tgtgtatcaa ccaaattaaa
     3781 aagaaaggtt ttcatgtca
//
