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

Summary

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

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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).
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.
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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NIB1273 (e-PCR)
- UniSTS:48145

D12S1570 (e-PCR)
- UniSTS:154189

NoName (e-PCR)
- UniSTS:487070

RH78491 (e-PCR)
- UniSTS:35999

D12S2011 (e-PCR)
- UniSTS:28867

STS-T76997 (e-PCR)
- UniSTS:57556

WI-12246 (e-PCR)
- UniSTS:82142

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)

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]
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]
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]
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]
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]
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]
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]