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    ANAPC7 anaphase promoting complex subunit 7 [ Homo sapiens (human) ]

    Gene ID: 51434, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ANAPC7provided by HGNC
    Official Full Name
    anaphase promoting complex subunit 7provided by HGNC
    Primary source
    HGNC:HGNC:17380
    See related
    Ensembl:ENSG00000196510 MIM:606949; AllianceGenome:HGNC:17380
    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
    APC7; FERBON
    Summary
    This gene encodes a tetratricopeptide repeat containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for proper protein ubiquitination function of APC/C and for the interaction of APC/C with certain transcription coactivators. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
    Expression
    Ubiquitous expression in testis (RPKM 11.7), esophagus (RPKM 9.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANAPC7 in Genome Data Viewer
    Location:
    12q24.11
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (110372900..110403708, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (110350557..110381372, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (110810705..110841513, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 769, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110803582-110804450 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110804451-110805318 Neighboring gene uncharacterized LOC124903014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7001 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110866603-110867104 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7002 Neighboring gene high mobility group AT-hook 1 pseudogene 3 Neighboring gene actin related protein 2/3 complex subunit 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110886698-110887550

    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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    Related articles in PubMed

    1. Downregulation of the anaphase-promoting complex (APC)7 in invasive ductal carcinomas of the breast and its clinicopathologic relationships. Park KH, et al. Breast Cancer Res, 2005. PMID 15743504, Free PMC Article
    2. Expression of anaphase-promoting complex7 in fibroadenomas and phyllodes tumors of breast. Kang Y, et al. Hum Pathol, 2009 Jan. PMID 18789487
    3. Crystal structure of the N-terminal domain of anaphase-promoting complex subunit 7. Han D, et al. J Biol Chem, 2009 May 29. PMID 19091741, Free PMC Article
    4. Cross-talk between APC/C and CBP/p300. Liu J, et al. Cancer Biol Ther, 2006 Jul. PMID 16861917
    5. Deletion of APC7 or APC16 Allows Proliferation of Human Cells without the Spindle Assembly Checkpoint. Wild T, et al. Cell Rep, 2018 Nov 27. PMID 30485802, Free PMC Article

    See all (172) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain.
      Title: APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain.
    2. the contribution of the anaphase-promoting complex/cyclosome subunits APC7 and APC16 to APC/C composition and function in human cells.
      Title: Deletion of APC7 or APC16 Allows Proliferation of Human Cells without the Spindle Assembly Checkpoint.
    3. The results showed that APC2 and APC7 subunits were both over expressed in cancer cell lines
      Title: The expression pattern of APC2 and APC7 in various cancer cell lines and AML patients.
    4. Data indicate that additional density present in the anaphase-promoting complex (APC/C) structure, proximal to Apc3/Cdc27 of the (tetratricopeptide repeat) lobe, is assigned to the TPR subunit Apc7, a subunit specific to vertebrate APC/C.
      Title: Recombinant expression, reconstitution and structure of human anaphase-promoting complex (APC/C).
    5. 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.
    6. The crystal structure of quad mutant of nApc7 (N-terminal fragment, residues 1-147) of human Apc7 at a resolution of 2.5 A, is reported.
      Title: Crystal structure of the N-terminal domain of anaphase-promoting complex subunit 7.
    7. Expression of ANAPC7 in fibroadenomas and phylloides tumors of breast is reported.
      Title: Expression of anaphase-promoting complex7 in fibroadenomas and phyllodes tumors of breast.
    8. APC5 and APC7 suppress E1A-mediated transformation in a CBP/p300-dependent manner, indicating that these components of the APC/C may be targeted during cellular transformation
      Title: The APC/C and CBP/p300 cooperate to regulate transcription and cell-cycle progression.
    9. dysregulation of APC activity, possibly through downregulation of APC7, may be associated with tumorigenesis in breast cancer
      Title: Downregulation of the anaphase-promoting complex (APC)7 in invasive ductal carcinomas of the breast and its clinicopathologic relationships.
    Submit: New GeneRIF Correction

    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
    Ferguson-Bonni neurodevelopmental syndrome
    MedGen: C5562065 OMIM: 619699 GeneReviews: Not available
    		not available

    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 enzyme-substrate adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein phosphatase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    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 brain development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell division IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of mitotic metaphase/anaphase transition 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 protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein ubiquitination IMP
    Inferred from Mutant Phenotype
    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 heterochromatin IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in spindle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    anaphase-promoting complex subunit 7
    Names
    cyclosome subunit 7

    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_001137664.2 → NP_001131136.2  anaphase-promoting complex subunit 7 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and 3' coding region (compared to variant 1), which results in a frameshift. It encodes isoform b which has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC144548
      Consensus CDS
      CCDS44971.2
      UniProtKB/TrEMBL
      B3KMP2
      Related
      ENSP00000402314.3, ENST00000450008.3
      Conserved Domains (2) summary
      TIGR02917
      Location:145 → 494
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:338 → 368
      TPR; TPR repeat [structural motif]

    2. NM_001385208.1 → NP_001372137.1  anaphase-promoting complex subunit 7 isoform c precursor

      Status: REVIEWED

      Source sequence(s)
      AC144548
      UniProtKB/TrEMBL
      Q4KMX6
      Conserved Domains (2) summary
      TIGR02917
      Location:159 → 549
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:352 → 382
      TPR; TPR repeat [structural motif]

    3. NM_001385209.1 → NP_001372138.1  anaphase-promoting complex subunit 7 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC144548
      UniProtKB/TrEMBL
      Q4KMX6
      Conserved Domains (2) summary
      TIGR02917
      Location:78 → 468
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:271 → 301
      TPR; TPR repeat [structural motif]

    4. NM_001385210.1 → NP_001372139.1  anaphase-promoting complex subunit 7 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC144548
      UniProtKB/TrEMBL
      Q4KMX6
      Conserved Domains (2) summary
      TIGR02917
      Location:78 → 468
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:271 → 301
      TPR; TPR repeat [structural motif]

    5. NM_001385211.1 → NP_001372140.1  anaphase-promoting complex subunit 7 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC144548
      UniProtKB/TrEMBL
      A5D8X2
      Conserved Domains (2) summary
      TIGR02917
      Location:145 → 433
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:338 → 368
      TPR; TPR repeat [structural motif]

    6. NM_001385212.1 → NP_001372141.1  anaphase-promoting complex subunit 7 isoform f

      Status: REVIEWED

      Source sequence(s)
      AC144548
      Conserved Domains (2) summary
      TIGR02917
      Location:40 → 348
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:151 → 181
      TPR; TPR repeat [structural motif]

    7. NM_016238.3 → NP_057322.3  anaphase-promoting complex subunit 7 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC144548, BC098362
      Consensus CDS
      CCDS9145.3
      UniProtKB/Swiss-Prot
      Q96AC4, Q96GF4, Q9BU24, Q9NT16, Q9UJX3
      UniProtKB/TrEMBL
      A5D8X2, Q4KMX6
      Related
      ENSP00000394394.4, ENST00000455511.9
      Conserved Domains (2) summary
      TIGR02917
      Location:145 → 535
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:338 → 368
      TPR; TPR repeat [structural motif]

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      110372900..110403708 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_007063088.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      110350557..110381372 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008488611.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UJX3.5 GenPept UniProtKB/Swiss-Prot:Q9UJX3

    Gene LinkOut

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

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