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

    Gene ID: 64682, updated on 7-Jul-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ANAPC1 in Genome Data Viewer
    Location:
    2q13
    Exon count:
    50
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (111766231..111884193, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (112191142..112310602, complement)
    105.20220307 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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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

    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)

    NEW Try the new Transcript table

    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_022662.4NP_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:14671501
      PC_rep; Proteasome/cyclosome repeat
      pfam12859
      Location:150206
      ANAPC1; Anaphase-promoting complex subunit 1
      pfam18122
      Location:17391895
      APC1_C; Anaphase-promoting complex sub unit 1 C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_017004711.2XP_016860200.1  anaphase-promoting complex subunit 1 isoform X3

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

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

      Conserved Domains (2) summary
      pfam01851
      Location:14711505
      PC_rep; Proteasome/cyclosome repeat
      pfam12859
      Location:150206
      ANAPC1; Anaphase-promoting complex subunit 1
    4. XM_017004713.2XP_016860202.1  anaphase-promoting complex subunit 1 isoform X5

      UniProtKB/TrEMBL
      H0Y564
      Related
      ENSP00000396695.1, ENST00000427997.5
      Conserved Domains (2) summary
      pfam01851
      Location:13111345
      PC_rep; Proteasome/cyclosome repeat
      pfam12859
      Location:246
      ANAPC1; Anaphase-promoting complex subunit 1
    5. XM_011511634.3XP_011509936.1  anaphase-promoting complex subunit 1 isoform X4

      Conserved Domains (2) summary
      pfam01851
      Location:13731407
      PC_rep; Proteasome/cyclosome repeat
      pfam12859
      Location:52108
      ANAPC1; Anaphase-promoting complex subunit 1
    6. XM_047445430.1XP_047301386.1  anaphase-promoting complex subunit 1 isoform X8

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

    8. XM_047445428.1XP_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_054343389.1XP_054199364.1  anaphase-promoting complex subunit 1 isoform X2

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

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

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

      UniProtKB/TrEMBL
      H0Y564
    5. XM_054343392.1XP_054199367.1  anaphase-promoting complex subunit 1 isoform X5

      UniProtKB/TrEMBL
      H0Y564
    6. XM_054343391.1XP_054199366.1  anaphase-promoting complex subunit 1 isoform X4

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

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