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

Gene ID: 51434, updated on 27-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
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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
  • 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)

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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