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

Gene ID: 64682, updated on 27-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
  • 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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Related articles in PubMed

  1. Posing the APC/C E3 Ubiquitin Ligase to Orchestrate Cell Division. Watson ER, et al. Trends Cell Biol, 2019 Feb. PMID 30482618, Free PMC Article
  2. Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1. Ajeawung NF, et al. Am J Hum Genet, 2019 Sep 5. PMID 31303264, Free PMC Article
  3. Regulation of Skp2-p27 axis by the Cdh1/anaphase-promoting complex pathway in colorectal tumorigenesis. Fujita T, et al. Am J Pathol, 2008 Jul. PMID 18535175, Free PMC Article
  4. Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density. Ivarsdottir EV, et al. Nat Commun, 2019 Mar 20. PMID 30894546, Free PMC Article
  5. Cubism and the cell cycle: the many faces of the APC/C. Pines J. Nat Rev Mol Cell Biol, 2011 Jun 2. PMID 21633387

See all (177) citations in PubMed

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

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