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    ANAPC1 anaphase promoting complex subunit 1 [ Homo sapiens (human) ]

    Gene ID: 64682, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ANAPC1provided by HGNC
    Official Full Name
    anaphase promoting complex subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:19988
    See related
    Ensembl:ENSG00000153107 MIM:608473; AllianceGenome:HGNC:19988
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    APC1; MCPR; TSG24
    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]
    Expression
    Ubiquitous expression in testis (RPKM 7.2), lymph node (RPKM 6.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANAPC1 in Genome Data Viewer
    Location:
    2q13
    Exon count:
    50
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (111766231..111884193, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (112191142..112310602, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (112525217..112641770, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L34 pseudogene 8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:112459685-112460470 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr2:112462827-112463612 and GRCh37_chr2:112463613-112464396 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:112471559-112471779 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:112477789-112478683 Neighboring gene CENPN pseudogene 2 Neighboring gene microRNA 4771-2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:112641007-112641800 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16387 Neighboring gene eukaryotic translation elongation factor 1 epsilon 1 pseudogene 1 Neighboring gene MER proto-oncogene, tyrosine kinase Neighboring gene RNA, 7SL, cytoplasmic 297, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Antibody for Serine 65 Phosphorylated Ubiquitin Identifies PLK1-Mediated Phosphorylation of Mitotic Proteins and APC1.
      Title: Antibody for Serine 65 Phosphorylated Ubiquitin Identifies PLK1-Mediated Phosphorylation of Mitotic Proteins and APC1.
    2. Dimerization regulates the human APC/C-associated ubiquitin-conjugating enzyme UBE2S.
      Title: Dimerization regulates the human APC/C-associated ubiquitin-conjugating enzyme UBE2S.
    3. 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
      Title: Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.
    4. 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].
      Title: Posing the APC/C E3 Ubiquitin Ligase to Orchestrate Cell Division.
    5. Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density.
      Title: Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density.
    6. Data show that FZR1 (Fzr), a cofactor of the multi-subunit E3 ligase complex anaphase-promoting complex/cyclosome (APC/C), represents a therapeutic target in myeloma.
      Title: Identification of the APC/C co-factor FZR1 as a novel therapeutic target for multiple myeloma.
    7. 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.
      Title: New Functions of APC/C Ubiquitin Ligase in the Nervous System and Its Role in Alzheimer's Disease.
    8. cryo-EM structure of an APC/C-Cdh1 complex with Apc1(WD40) deleted showed that the mutant APC/C is locked into an inactive conformation in which the UbcH10-binding site of the catalytic module is inaccessible. Additionally, an EM density for Apc15 is not visible
      Title: WD40 domain of Apc1 is critical for the coactivator-induced allosteric transition that stimulates APC/C catalytic activity.
    9. 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.
      Title: The Mitotic Checkpoint Complex Requires an Evolutionary Conserved Cassette to Bind and Inhibit Active APC/C.
    10. findings suggest a tumor suppressor role for APC/C(Cdh1) in melanocytes and that targeting PAX3 may be a strategy for treating melanoma.
      Title: The E3 ligase APC/C(Cdh1) promotes ubiquitylation-mediated proteolysis of PAX3 to suppress melanocyte proliferation and melanoma growth.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Rothmund-Thomson syndrome type 1
    MedGen: C5231433 OMIM: 618625 GeneReviews: Rothmund-Thomson Syndrome
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with anaphase promoting complex subunit 1 (APC1; ANAPC1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in anaphase-promoting complex-dependent catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in anaphase-promoting complex-dependent catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in anaphase-promoting complex-dependent catabolic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in metaphase/anaphase transition of mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein K11-linked ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein K11-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein K48-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein branched polyubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of meiotic cell cycle NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of mitotic cell cycle NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of anaphase-promoting complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of anaphase-promoting complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of anaphase-promoting complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of anaphase-promoting complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    anaphase-promoting complex subunit 1
    Names
    anaphase-promoting complex 1 (meiotic checkpoint regulator)
    cyclosome subunit 1
    mitotic checkpoint regulator
    testis-specific gene 24 protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_022662.4 → NP_073153.1  anaphase-promoting complex subunit 1

      See identical proteins and their annotated locations for NP_073153.1

      Status: VALIDATED

      Source sequence(s)
      AC093166, AC104651
      Consensus CDS
      CCDS2093.1
      UniProtKB/Swiss-Prot
      Q2M3H8, Q9BSE6, Q9H1A4, Q9H8D0
      Related
      ENSP00000339109.3, ENST00000341068.8
      Conserved Domains (3) summary
      pfam01851
      Location:1467 → 1501
      PC_rep; Proteasome/cyclosome repeat
      pfam12859
      Location:150 → 206
      ANAPC1; Anaphase-promoting complex subunit 1
      pfam18122
      Location:1739 → 1895
      APC1_C; Anaphase-promoting complex sub unit 1 C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      111766231..111884193 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004711.2 → XP_016860200.1  anaphase-promoting complex subunit 1 isoform X3

    2. XM_017004710.3 → XP_016860199.1  anaphase-promoting complex subunit 1 isoform X2

    3. XM_011511633.3 → XP_011509935.1  anaphase-promoting complex subunit 1 isoform X1

      Conserved Domains (2) summary
      pfam01851
      Location:1471 → 1505
      PC_rep; Proteasome/cyclosome repeat
      pfam12859
      Location:150 → 206
      ANAPC1; Anaphase-promoting complex subunit 1

    4. XM_017004713.2 → XP_016860202.1  anaphase-promoting complex subunit 1 isoform X5

      UniProtKB/TrEMBL
      H0Y564
      Related
      ENSP00000396695.1, ENST00000427997.5
      Conserved Domains (2) summary
      pfam01851
      Location:1311 → 1345
      PC_rep; Proteasome/cyclosome repeat
      pfam12859
      Location:2 → 46
      ANAPC1; Anaphase-promoting complex subunit 1

    5. XM_011511634.3 → XP_011509936.1  anaphase-promoting complex subunit 1 isoform X4

      Conserved Domains (2) summary
      pfam01851
      Location:1373 → 1407
      PC_rep; Proteasome/cyclosome repeat
      pfam12859
      Location:52 → 108
      ANAPC1; Anaphase-promoting complex subunit 1

    6. XM_047445430.1 → XP_047301386.1  anaphase-promoting complex subunit 1 isoform X8

    7. XM_047445429.1 → XP_047301385.1  anaphase-promoting complex subunit 1 isoform X7

    8. XM_047445428.1 → XP_047301384.1  anaphase-promoting complex subunit 1 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      112191142..112310602 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343389.1 → XP_054199364.1  anaphase-promoting complex subunit 1 isoform X2

    2. XM_054343390.1 → XP_054199365.1  anaphase-promoting complex subunit 1 isoform X3

    3. XM_054343388.1 → XP_054199363.1  anaphase-promoting complex subunit 1 isoform X1

    4. XM_054343393.1 → XP_054199368.1  anaphase-promoting complex subunit 1 isoform X9

    5. XM_054343392.1 → XP_054199367.1  anaphase-promoting complex subunit 1 isoform X5

    6. XM_054343391.1 → XP_054199366.1  anaphase-promoting complex subunit 1 isoform X4

    7. XM_054343394.1 → XP_054199369.1  anaphase-promoting complex subunit 1 isoform X10

    8. XM_054343395.1 → XP_054199370.1  anaphase-promoting complex subunit 1 isoform X8

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H1A4.1 GenPept UniProtKB/Swiss-Prot:Q9H1A4

    Gene LinkOut

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