GenomeNet

Database: RefSeq
Entry: NP_073153
LinkDB: NP_073153
Original site: NP_073153 
LOCUS       NP_073153               1944 aa            linear   PRI 04-JUL-2020
DEFINITION  anaphase-promoting complex subunit 1 [Homo sapiens].
ACCESSION   NP_073153 XP_943596
VERSION     NP_073153.1
DBSOURCE    REFSEQ: accession NM_022662.4
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  (residues 1 to 1944)
  AUTHORS   Ajeawung NF, Nguyen TTM, Lu L, Kucharski TJ, Rousseau J, Molidperee
            S, Atienza J, Gamache I, Jin W, Plon SE, Lee BH, Teodoro JG, Wang
            LL and Campeau PM.
  TITLE     Mutations in ANAPC1, Encoding a Scaffold Subunit of the
            Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1
  JOURNAL   Am. J. Hum. Genet. 105 (3), 625-630 (2019)
   PUBMED   31303264
  REMARK    GeneRIF: Fibroblast studies showed that the intronic mutation
            causes the activation of a 95 bp pseudoexon, leading to mRNAs with
            premature termination codons and nonsense-mediated decay, decreased
            ANAPC1 protein levels, and prolongation of interphase
REFERENCE   2  (residues 1 to 1944)
  AUTHORS   Ivarsdottir EV, Benonisdottir S, Thorleifsson G, Sulem P, Oddsson
            A, Styrkarsdottir U, Kristmundsdottir S, Arnadottir GA,
            Thorgeirsson G, Jonsdottir I, Zoega GM, Thorsteinsdottir U,
            Gudbjartsson DF, Jonasson F, Holm H and Stefansson K.
  TITLE     Sequence variation at ANAPC1 accounts for 24% of the variability in
            corneal endothelial cell density
  JOURNAL   Nat Commun 10 (1), 1284 (2019)
   PUBMED   30894546
  REMARK    GeneRIF: Sequence variation at ANAPC1 accounts for 24% of the
            variability in corneal endothelial cell density.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1944)
  AUTHORS   Watson ER, Brown NG, Peters JM, Stark H and Schulman BA.
  TITLE     Posing the APC/C E3 Ubiquitin Ligase to Orchestrate Cell Division
  JOURNAL   Trends Cell Biol. 29 (2), 117-134 (2019)
   PUBMED   30482618
  REMARK    GeneRIF: The anaphase promoting complex/cyclosome (APC/C) E3 ligase
            is not simply an interaction hub, but a dynamic, multifunctional
            molecular machine whose structure is remodeled by binding partners
            to achieve temporal ubiquitylation regulating cell division
            [Review].
            Review article
REFERENCE   4  (residues 1 to 1944)
  AUTHORS   Fuchsberger T, Lloret A and Vina J.
  TITLE     New Functions of APC/C Ubiquitin Ligase in the Nervous System and
            Its Role in Alzheimer's Disease
  JOURNAL   Int J Mol Sci 18 (5), E1057 (2017)
   PUBMED   28505105
  REMARK    GeneRIF: in the Alzheimer's disease (AD)mouse model APP/PS1, lower
            cdh1 levels were observed in pyramidal neurons in CA1 when compared
            to age-matched wildtype mice. In this review, we provide a complete
            list of APC/C substrates that are involved in the nervous system
            and we discuss their functions. We also summarize recent studies
            that show neurobiological effects in cdh1 knockout mouse models.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1944)
  AUTHORS   Di Fiore B, Wurzenberger C, Davey NE and Pines J.
  TITLE     The Mitotic Checkpoint Complex Requires an Evolutionary Conserved
            Cassette to Bind and Inhibit Active APC/C
  JOURNAL   Mol. Cell 64 (6), 1144-1153 (2016)
   PUBMED   27939943
  REMARK    GeneRIF: The ABBA-KEN-ABBA amino acid motif cassette holds the
            Mitotic Checkpoint Complex (MCC) onto the Anaphase-Promoting
            Complex-Cyclosome (APC/C) by binding the two Cdc20 molecules in the
            MCC-APC/C complex.
REFERENCE   6  (residues 1 to 1944)
  AUTHORS   Kramer ER, Scheuringer N, Podtelejnikov AV, Mann M and Peters JM.
  TITLE     Mitotic regulation of the APC activator proteins CDC20 and CDH1
  JOURNAL   Mol. Biol. Cell 11 (5), 1555-1569 (2000)
   PUBMED   10793135
REFERENCE   7  (residues 1 to 1944)
  AUTHORS   Lukas C, Sorensen CS, Kramer E, Santoni-Rugiu E, Lindeneg C, Peters
            JM, Bartek J and Lukas J.
  TITLE     Accumulation of cyclin B1 requires E2F and cyclin-A-dependent
            rearrangement of the anaphase-promoting complex
  JOURNAL   Nature 401 (6755), 815-818 (1999)
   PUBMED   10548110
REFERENCE   8  (residues 1 to 1944)
  AUTHORS   Gieffers C, Peters BH, Kramer ER, Dotti CG and Peters JM.
  TITLE     Expression of the CDH1-associated form of the anaphase-promoting
            complex in postmitotic neurons
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 96 (20), 11317-11322 (1999)
   PUBMED   10500174
REFERENCE   9  (residues 1 to 1944)
  AUTHORS   Grossberger R, Gieffers C, Zachariae W, Podtelejnikov AV,
            Schleiffer A, Nasmyth K, Mann M and Peters JM.
  TITLE     Characterization of the DOC1/APC10 subunit of the yeast and the
            human anaphase-promoting complex
  JOURNAL   J. Biol. Chem. 274 (20), 14500-14507 (1999)
   PUBMED   10318877
REFERENCE   10 (residues 1 to 1944)
  AUTHORS   Wang,L.L. and Plon,S.E.
  TITLE     Rothmund-Thomson Syndrome
  JOURNAL   (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens
            K and Amemiya A (Eds.);
            GENEREVIEWS((R));
            (1993)
   PUBMED   20301415
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104651.2 and AC093166.6.
            On Mar 4, 2006 this sequence version replaced XP_943596.1.
            
            Summary: This gene encodes a subunit of the anaphase-promoting
            complex. This complex is an E3 ubiquitin ligase that regulates
            progression through the metaphase to anaphase portion of the cell
            cycle by ubiquitinating proteins which targets them for
            degradation. [provided by RefSeq, Dec 2011].
            
            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 :: SRR1803616.217688.1,
                                           SRR1803615.209447.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000341068.8/ ENSP00000339109.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1944
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q13"
     Protein         1..1944
                     /product="anaphase-promoting complex subunit 1"
                     /note="anaphase-promoting complex 1 (meiotic checkpoint
                     regulator); cyclosome subunit 1; mitotic checkpoint
                     regulator; testis-specific gene 24 protein"
                     /calculated_mol_wt=216370
     Site            51
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000244|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9H1A4.1)"
     Site            60
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000244|PubMed:18669648,
                     ECO:0000244|PubMed:19690332, ECO:0000244|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (Q9H1A4.1)"
     Region          150..>206
                     /region_name="ANAPC1"
                     /note="Anaphase-promoting complex subunit 1; pfam12859"
                     /db_xref="CDD:289618"
     Site            202
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:14657031; propagated from
                     UniProtKB/Swiss-Prot (Q9H1A4.1)"
     Site            286
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:14657031; propagated from
                     UniProtKB/Swiss-Prot (Q9H1A4.1)"
     Site            291
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000244|PubMed:18669648,
                     ECO:0000244|PubMed:20068231, ECO:0000244|PubMed:23186163,
                     ECO:0000269|PubMed:14657031; propagated from
                     UniProtKB/Swiss-Prot (Q9H1A4.1)"
     Site            313
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000244|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H1A4.1)"
     Site            341
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000244|PubMed:18669648,
                     ECO:0000244|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9H1A4.1)"
     Site            343
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000244|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H1A4.1)"
     Site            355
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000244|PubMed:18220336,
                     ECO:0000244|PubMed:18669648, ECO:0000244|PubMed:20068231,
                     ECO:0000244|PubMed:23186163, ECO:0000269|PubMed:14657031;
                     propagated from UniProtKB/Swiss-Prot (Q9H1A4.1)"
     Site            362
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000244|PubMed:18669648,
                     ECO:0000244|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H1A4.1)"
     Site            373
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:14657031; propagated from
                     UniProtKB/Swiss-Prot (Q9H1A4.1)"
     Site            377
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000244|PubMed:18220336,
                     ECO:0000244|PubMed:18691976, ECO:0000244|PubMed:20068231,
                     ECO:0000244|PubMed:21406692, ECO:0000244|PubMed:23186163,
                     ECO:0000269|PubMed:14657031; propagated from
                     UniProtKB/Swiss-Prot (Q9H1A4.1)"
     Site            537
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:14657031; propagated from
                     UniProtKB/Swiss-Prot (Q9H1A4.1)"
     Site            547
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000244|PubMed:18669648,
                     ECO:0000244|PubMed:18691976, ECO:0000244|PubMed:19690332,
                     ECO:0000244|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9H1A4.1)"
     Site            555
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000244|PubMed:18691976,
                     ECO:0000244|PubMed:19690332, ECO:0000244|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (Q9H1A4.1)"
     Site            571
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:14657031; propagated from
                     UniProtKB/Swiss-Prot (Q9H1A4.1)"
     Site            686
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000244|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9H1A4.1)"
     Site            688
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000244|PubMed:19690332,
                     ECO:0000244|PubMed:20068231, ECO:0000244|PubMed:21406692,
                     ECO:0000244|PubMed:23186163, ECO:0000244|PubMed:24275569,
                     ECO:0000269|PubMed:14657031; propagated from
                     UniProtKB/Swiss-Prot (Q9H1A4.1)"
     Site            916
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000244|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H1A4.1)"
     Region          1297..1325
                     /region_name="PC 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H1A4.1)"
     Region          1366..1404
                     /region_name="PC 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H1A4.1)"
     Region          1467..1501
                     /region_name="PC 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H1A4.1)"
     Region          1467..1501
                     /region_name="PC_rep"
                     /note="Proteasome/cyclosome repeat; pfam01851"
                     /db_xref="CDD:280095"
     Region          1520..1552
                     /region_name="PC 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H1A4.1)"
     CDS             1..1944
                     /gene="ANAPC1"
                     /gene_synonym="APC1; MCPR; TSG24"
                     /coded_by="NM_022662.4:277..6111"
                     /db_xref="CCDS:CCDS2093.1"
                     /db_xref="GeneID:64682"
                     /db_xref="HGNC:HGNC:19988"
                     /db_xref="MIM:608473"
ORIGIN      
        1 msnfyeertt miaardlqef vpfgrdhckh hpnalnlqlr qlqpaselws sdgaaglvgs
       61 lqevtihekq keswqlrkgv seigedvdyd eelyvagnmv iwskgsksqa lavykaftvd
      121 spvqqalwcd fiisqdksek ayssnevekc icilqsscin mhsiegkdyi aslpfqvanv
      181 wptkygllfe rsasshevpp gspreplptm fsmlhpldei tplvcksgsl fgssrvqyvv
      241 dhamkivfln tdpsivmtyd avqnvhsvwt lrrvkseeen vvlkfseqgg tpqnvatsss
      301 ltahlrslsk gdspvtspfq nyssihsqsr stsspslhsr spsisnmaal srahspalgv
      361 hsfsgvqrfn isshnqspkr hsishspnsn sngsflapet epivpelcid hlwtetitni
      421 reknsqaskv fitsdlcgqk flcflvesql qlrcvkfqes ndktqlifgs vtnipakdaa
      481 pvekidtmlv legsgnlvly tgvvrvgkvf ipglpapslt msntmprpst pldgvstpkp
      541 lskllgslde vvllspvpel rdssklhdsl ynedctfqql gtyihsirdp vhnrvtlels
      601 ngsmvritip eiatselvqt clqaikfilp keiavqmlvk wynvhsapgg psyhsewnlf
      661 vtclmnmmgy ntdrlawtrn fdfegslspv iapkkarpse tgsdddweyl lnsdyhqnve
      721 shllnrslcl spseasqmkd edfsqnlsld sstllfthip aiffvlhlvy eelklntlmg
      781 egicslvell vqlardlklg pyvdhyyrdy ptlvrttgqv ctidpgqtgf mhhpsfftse
      841 ppsiyqwvss clkgegmppy pylpgicers rlvvlsialy ilgdeslvsd essqyltrit
      901 iapqklqveq eenrfsfrhs tsvsslaerl vvwmtnvgft lrdletlpfg ialpirdaiy
      961 hcreqpasdw peavclligr qdlskqaceg nlpkgksvls sdvpsgtete eeddgmndmn
     1021 hevmsliwse dlrvqdvrrl lqsahpvrvn vvqypelsdh efieekenrl lqlcqrtmal
     1081 pvgrgmftlf syhpvptepl pipklnltgr apprnttvdl nsgnidvppn mtswasfhng
     1141 vaaglkiapa sqidsawivy nkpkhaelan eyagflmalg lnghltklat lnihdyltkg
     1201 hemtsiglll gvsaaklgtm dmsitrllsi hipallppts teldvphnvq vaavvgiglv
     1261 yqgtahrhta evllaeigrp pgpemeyctd resyslaagl algmvclghg snligmsdln
     1321 vpeqlyqymv gghrrfqtgm hrekhkspsy qikegdtinv dvtcpgatla lamiylktnn
     1381 rsiadwlrap dtmylldfvk peflllrtla rclilwddil pnskwvdsnv pqiirensis
     1441 lseielpcse dlnletlsqa hvyiiagacl slgfrfagse nlsafnclhk fakdfmtyls
     1501 apnasvtgph nletclsvvl lslamvmags gnlkvlqlcr flhmktggem nygfhlahhm
     1561 algllflggg ryslstsnss iaallcalyp hfpahstdnr yhlqalrhly vlaaeprllv
     1621 pvdvdtntpc yallevtykg tqwyeqtkee lmaptllpel hllkqikvkg prywellidl
     1681 skgtqhlksi lskdgvlyvk lragqlsyke dpmgwqslla qtvanrnsea rafkpetisa
     1741 ftsdpallsf aeyfckptvn mgqkqeildl fssvlyecvt qetpemlpay iamdqairrl
     1801 grremsetse lwqiklvlef fssrshqerl qnhpkrglfm nseflpvvkc tidntldqwl
     1861 qvggdmcvha ylsgqplees qlsmlacflv yhsvpapqhl ppiglegsts faellfkfkq
     1921 lkmpvrallr laplllgnpq pmvm
//
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