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    ANAPC4 anaphase promoting complex subunit 4 [ Homo sapiens (human) ]

    Gene ID: 29945, updated on 7-Apr-2024

    Summary

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    Official Symbol
    ANAPC4provided by HGNC
    Official Full Name
    anaphase promoting complex subunit 4provided by HGNC
    Primary source
    HGNC:HGNC:19990
    See related
    Ensembl:ENSG00000053900 MIM:606947; AllianceGenome:HGNC:19990
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    APC4
    Summary
    A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
    Expression
    Ubiquitous expression in endometrium (RPKM 15.3), lymph node (RPKM 11.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANAPC4 in Genome Data Viewer
    Location:
    4p15.2
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (25377263..25418498)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (25359068..25400297)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (25378885..25420120)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900685 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21373 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21374 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:25314050-25314926 Neighboring gene uncharacterized LOC124900686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21376 Neighboring gene zinc finger CCHC-type containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15324 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21379 Neighboring gene uncharacterized LOC105374536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15325 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:25451941-25452758 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:25458193-25458692 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:25482407-25483109 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:25483110-25483811 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:25485929-25486778 Neighboring gene inositol-3-phosphate synthase 1 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. Two subgroups of HLA Bw44 defined by cell-mediated lympholysis that differ in Bw44 expression on platelets and in patterns of genetic linkage disequilibrium. Tekolf WA, et al. J Immunol, 1982 Oct. PMID 6180011
    2. The emerging role of APC/CCdh1 in controlling differentiation, genomic stability and tumor suppression. Wäsch R, et al. Oncogene, 2010 Jan 7. PMID 19826416, Free PMC Article
    3. Germline Missense Variants in CDC20 Result in Aberrant Mitotic Progression and Familial Cancer. Chen OJ, et al. Cancer Res, 2022 Oct 4. PMID 35913887
    4. Orderly inactivation of the key checkpoint protein mitotic arrest deficient 2 (MAD2) during mitotic progression. Ma HT, et al. J Biol Chem, 2011 Apr 15. PMID 21335556, Free PMC Article
    5. A homozygous loss-of-function mutation in FBXO43 causes human non-obstructive azoospermia. Wu H, et al. Clin Genet, 2022 Jan. PMID 34595750

    See all (115) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. We have also identified a functionally important SUMO interacting motif in the cullin-homology domain of APC2 located near the APC4 sumoylation sites and APC/C catalytic core. Our findings provide evidence of an important regulatory role for SUMO modification and binding in affecting APC/C activation and mitotic exit.
      Title: Sumoylation promotes optimal APC/C Activation and Timely Anaphase.
    2. Inactivation and disassembly of the anaphase-promoting complex during human cytomegalovirus infection is associated with degradation of the APC5 and APC4 subunits and does not require UL97-mediated phosphorylation of Cdh1.
      Title: Inactivation and disassembly of the anaphase-promoting complex during human cytomegalovirus infection is associated with degradation of the APC5 and APC4 subunits and does not require UL97-mediated phosphorylation of Cdh1.
    3. Studies indicate that APC/C(Cdh1) is required to maintain genomic stability.
      Title: The emerging role of APC/CCdh1 in controlling differentiation, genomic stability and tumor suppression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
    EBI GWAS Catalog
    Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
    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)

    Genotypes

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein phosphatase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin-protein transferase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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 NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell division IEA
    Inferred from Electronic Annotation
    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 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 
    involved_in regulation of mitotic metaphase/anaphase transition IEA
    Inferred from Electronic Annotation
    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
    		  
    is_active_in nuclear periphery IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    anaphase-promoting complex subunit 4
    Names
    cyclosome subunit 4

    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_001286756.2 → NP_001273685.1  anaphase-promoting complex subunit 4 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC108218, AC110812, AK023597, BC059383, BI546948
      Consensus CDS
      CCDS68684.1
      UniProtKB/TrEMBL
      B3KN47
      Related
      ENSP00000426654.1, ENST00000510092.5
      Conserved Domains (3) summary
      sd00039
      Location:24 → 59
      7WD40; WD40 repeat [structural motif]
      pfam12894
      Location:26 → 118
      ANAPC4_WD40; Anaphase-promoting complex subunit 4 WD40 domain
      pfam12896
      Location:232 → 431
      ANAPC4; Anaphase-promoting complex, cyclosome, subunit 4

    2. NM_013367.3 → NP_037499.2  anaphase-promoting complex subunit 4 isoform 2

      See identical proteins and their annotated locations for NP_037499.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.
      Source sequence(s)
      BC059383, BI546948, CA312572
      Consensus CDS
      CCDS3434.1
      UniProtKB/Swiss-Prot
      A8K8H1, E9PCR4, Q6PCC6, Q9NSH6, Q9UJX5
      UniProtKB/TrEMBL
      B3KN47
      Related
      ENSP00000318775.3, ENST00000315368.8
      Conserved Domains (3) summary
      sd00039
      Location:24 → 59
      7WD40; WD40 repeat [structural motif]
      pfam12894
      Location:26 → 118
      ANAPC4_WD40; Anaphase-promoting complex subunit 4 WD40 domain
      pfam12896
      Location:232 → 431
      ANAPC4; Anaphase-promoting complex, cyclosome, subunit 4

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      25377263..25418498
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047450152.1 → XP_047306108.1  anaphase-promoting complex subunit 4 isoform X2

    2. XM_011513838.2 → XP_011512140.1  anaphase-promoting complex subunit 4 isoform X1

      UniProtKB/TrEMBL
      B3KN47
      Conserved Domains (1) summary
      pfam12896
      Location:120 → 319
      ANAPC4; Anaphase-promoting complex, cyclosome, subunit 4

    3. XM_005248159.2 → XP_005248216.1  anaphase-promoting complex subunit 4 isoform X3

      Conserved Domains (1) summary
      pfam12896
      Location:1 → 63
      ANAPC4; Anaphase-promoting complex, cyclosome, subunit 4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      25359068..25400297
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349855.1 → XP_054205830.1  anaphase-promoting complex subunit 4 isoform X2

    2. XM_054349854.1 → XP_054205829.1  anaphase-promoting complex subunit 4 isoform X1

    3. XM_054349856.1 → XP_054205831.1  anaphase-promoting complex subunit 4 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UJX5.2 GenPept UniProtKB/Swiss-Prot:Q9UJX5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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