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] See more...

Aliases for ANAPC1 Gene

Aliases for ANAPC1 Gene

  • Anaphase Promoting Complex Subunit 1 2 3 5
  • TSG24 2 3 4
  • APC1 2 3 4
  • Anaphase-Promoting Complex Subunit 1 3 4
  • Testis-Specific Gene 24 Protein 3 4
  • Mitotic Checkpoint Regulator 3 4
  • Cyclosome Subunit 1 3 4
  • MCPR 2 3
  • Anaphase-Promoting Complex 1 (Meiotic Checkpoint Regulator) 3
  • ANAPC1 5

External Ids for ANAPC1 Gene

Previous GeneCards Identifiers for ANAPC1 Gene

  • GC02M110445
  • GC02M112430
  • GC02M112621
  • GC02M112242
  • GC02M087019
  • GC02M112523
  • GC02M111768

Summaries for ANAPC1 Gene

Entrez Gene Summary for ANAPC1 Gene

  • 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]

GeneCards Summary for ANAPC1 Gene

ANAPC1 (Anaphase Promoting Complex Subunit 1) is a Protein Coding gene. Diseases associated with ANAPC1 include Rothmund-Thomson Syndrome, Type 1 and Thalamic Neoplasm. Among its related pathways are Cell cycle_Spindle assembly and chromosome separation and Signal transduction_PKA signaling.

UniProtKB/Swiss-Prot Summary for ANAPC1 Gene

  • Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains.

Gene Wiki entry for ANAPC1 Gene

Additional gene information for ANAPC1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANAPC1 Gene

Genomics for ANAPC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ANAPC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANAPC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANAPC1

Top Transcription factor binding sites by QIAGEN in the ANAPC1 gene promoter:
  • AREB6
  • GR
  • GR-alpha
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • ZIC2

Genomic Locations for ANAPC1 Gene

Genomic Locations for ANAPC1 Gene
chr2:111,611,639-111,884,690
(GRCh38/hg38)
Size:
273,052 bases
Orientation:
Minus strand
chr2:112,523,848-112,642,267
(GRCh37/hg19)
Size:
118,420 bases
Orientation:
Minus strand

Genomic View for ANAPC1 Gene

Genes around ANAPC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANAPC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANAPC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANAPC1 Gene

Proteins for ANAPC1 Gene

  • Protein details for ANAPC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H1A4-APC1_HUMAN
    Recommended name:
    Anaphase-promoting complex subunit 1
    Protein Accession:
    Q9H1A4
    Secondary Accessions:
    • Q2M3H8
    • Q9BSE6
    • Q9H8D0

    Protein attributes for ANAPC1 Gene

    Size:
    1944 amino acids
    Molecular mass:
    216500 Da
    Quaternary structure:
    • The mammalian APC/C is composed at least of 14 distinct subunits ANAPC1, ANAPC2, CDC27/APC3, ANAPC4, ANAPC5, CDC16/APC6, ANAPC7, CDC23/APC8, ANAPC10, ANAPC11, CDC26/APC12, ANAPC13, ANAPC15 and ANAPC16 that assemble into a complex of at least 19 chains with a combined molecular mass of around 1.2 MDa; APC/C interacts with FZR1 and FBXO5.

    Three dimensional structures from OCA and Proteopedia for ANAPC1 Gene

neXtProt entry for ANAPC1 Gene

Post-translational modifications for ANAPC1 Gene

  • Phosphorylated. Phosphorylation on Ser-355 occurs specifically during mitosis.
  • Ubiquitination at Lys310, Lys379, Lys695, Lys905, Lys985, and Lys1066
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ANAPC1 Gene

Domains & Families for ANAPC1 Gene

Gene Families for ANAPC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ANAPC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ANAPC1 Gene

GenScript: Design optimal peptide antigens:
  • Testis-specific gene 24 protein (APC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H1A4

UniProtKB/Swiss-Prot:

APC1_HUMAN :
  • Belongs to the APC1 family.
Family:
  • Belongs to the APC1 family.
genes like me logo Genes that share domains with ANAPC1: view

Function for ANAPC1 Gene

Molecular function for ANAPC1 Gene

UniProtKB/Swiss-Prot Function:
Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains.

Phenotypes From GWAS Catalog for ANAPC1 Gene

Gene Ontology (GO) - Molecular Function for ANAPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0060090 molecular adaptor activity IBA 21873635
genes like me logo Genes that share ontologies with ANAPC1: view
genes like me logo Genes that share phenotypes with ANAPC1: view

Human Phenotype Ontology for ANAPC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANAPC1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ANAPC1 Gene

Localization for ANAPC1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANAPC1 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 3
extracellular 1
cytoskeleton 1
mitochondrion 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ANAPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005680 anaphase-promoting complex IEA,IDA 16364912
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ANAPC1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ANAPC1 Gene

Pathways & Interactions for ANAPC1 Gene

PathCards logo

SuperPathways for ANAPC1 Gene

SuperPathway Contained pathways
1 Regulation of activated PAK-2p34 by proteasome mediated degradation
2 APC-Cdc20 mediated degradation of Nek2A
3 Class I MHC mediated antigen processing and presentation
4 Cell Cycle, Mitotic
.60
5 Cellular Senescence (REACTOME)
genes like me logo Genes that share pathways with ANAPC1: view

Pathways by source for ANAPC1 Gene

7 GeneGo (Thomson Reuters) pathways for ANAPC1 Gene
  • Cell cycle Regulation of G1/S transition (part 1)
  • Cell cycle Role of SCF complex in cell cycle regulation
  • Cell cycle_Role of APC in cell cycle regulation
  • Cell cycle_Spindle assembly and chromosome separation
  • Development_TGF-beta receptor signaling
6 Qiagen pathways for ANAPC1 Gene
  • Activation of PKA through GPCR
  • cAMP Pathway
  • CDC42 Pathway
  • Epithelial Adherens Junctions
  • Mitotic Roles of Polo Like Kinases
1 Cell Signaling Technology pathway for ANAPC1 Gene

UniProtKB/Swiss-Prot Q9H1A4-APC1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for ANAPC1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ANAPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006511 ubiquitin-dependent protein catabolic process TAS --
GO:0007049 cell cycle IEA --
GO:0007091 metaphase/anaphase transition of mitotic cell cycle IBA 21873635
GO:0016567 protein ubiquitination IEA --
GO:0031145 anaphase-promoting complex-dependent catabolic process IBA,TAS --
genes like me logo Genes that share ontologies with ANAPC1: view

Drugs & Compounds for ANAPC1 Gene

No Compound Related Data Available

Transcripts for ANAPC1 Gene

mRNA/cDNA for ANAPC1 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANAPC1

Alternative Splicing Database (ASD) splice patterns (SP) for ANAPC1 Gene

No ASD Table

Relevant External Links for ANAPC1 Gene

GeneLoc Exon Structure for
ANAPC1

Expression for ANAPC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ANAPC1 Gene

Protein differential expression in normal tissues from HIPED for ANAPC1 Gene

This gene is overexpressed in Breast (24.6), Lung (15.2), and Cerebrospinal fluid (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ANAPC1 Gene



Protein tissue co-expression partners for ANAPC1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ANAPC1

SOURCE GeneReport for Unigene cluster for ANAPC1 Gene:

Hs.436527

Evidence on tissue expression from TISSUES for ANAPC1 Gene

  • Intestine(4.4)
  • Liver(4.4)
  • Nervous system(3.6)
genes like me logo Genes that share expression patterns with ANAPC1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANAPC1 Gene

Orthologs for ANAPC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ANAPC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ANAPC1 31
  • 100 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 95 (a)
OneToMany
-- 31
  • 87 (a)
OneToMany
-- 31
  • 84 (a)
OneToMany
-- 31
  • 83 (a)
OneToMany
-- 31
  • 80 (a)
OneToMany
-- 31
  • 77 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia ANAPC1 30 31
  • 93.4 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ANAPC1 30 31
  • 90.05 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ANAPC1 31
  • 90 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Anapc1 30
  • 87.96 (n)
Mouse
(Mus musculus)
Mammalia Anapc1 30 17 31
  • 87.93 (n)
OneToOne
Chicken
(Gallus gallus)
Aves ANAPC1 30 31
  • 76.53 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ANAPC1 31
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia anapc1 30
  • 73.59 (n)
Str.16338 30
Zebrafish
(Danio rerio)
Actinopterygii anapc1 30 31
  • 65.73 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta shtd 30 31
  • 46.97 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000374 30
  • 43.77 (n)
Worm
(Caenorhabditis elegans)
Secernentea mat-2 31
  • 19 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APC1 31 33
  • 19 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons EMB2771 30
  • 45.78 (n)
Rice
(Oryza sativa)
Liliopsida Os05g0354300 30
  • 49.44 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 32 (a)
OneToOne
Species where no ortholog for ANAPC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ANAPC1 Gene

ENSEMBL:
Gene Tree for ANAPC1 (if available)
TreeFam:
Gene Tree for ANAPC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ANAPC1: view image

Paralogs for ANAPC1 Gene

No data available for Paralogs for ANAPC1 Gene

Variants for ANAPC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANAPC1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
692104 Pathogenic/Likely Pathogenic: Rothmund-Thomson syndrome type 1 111,825,365(-) G/A INTRON_VARIANT
692105 Pathogenic: Rothmund-Thomson syndrome type 1 111,847,737(-) G/GT FRAMESHIFT_VARIANT
692106 Pathogenic: Rothmund-Thomson syndrome type 1 111,794,817(-) C/T SPLICE_DONOR_VARIANT
750474 Likely Benign: not provided 111,792,564(-) T/G INTRON_VARIANT
757630 Likely Benign: not provided 111,880,688(-) A/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ANAPC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ANAPC1 Gene

Variant ID Type Subtype PubMed ID
dgv4047n100 CNV loss 25217958
esv26491 CNV gain 19812545
esv27292 CNV gain+loss 19812545
esv2759083 CNV gain+loss 17122850
nsv10127 CNV gain 18304495
nsv1148179 CNV duplication 26484159
nsv1149522 OTHER inversion 26484159
nsv215083 CNV deletion 16902084
nsv428402 CNV loss 18775914
nsv514974 CNV loss 21397061
nsv521956 CNV loss 19592680
nsv582699 CNV loss 21841781
nsv834333 CNV gain 17160897
nsv961487 CNV duplication 23825009
nsv961488 CNV duplication 23825009
nsv961995 CNV duplication 23825009
nsv961996 CNV duplication 23825009
nsv963701 CNV duplication 23825009
nsv963702 CNV duplication 23825009
nsv979098 CNV duplication 23825009
nsv979099 CNV duplication 23825009

Variation tolerance for ANAPC1 Gene

Residual Variation Intolerance Score: 77.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.05; 50.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANAPC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANAPC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANAPC1 Gene

Disorders for ANAPC1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ANAPC1 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
rothmund-thomson syndrome, type 1
  • rothmund-thomson syndrome
thalamic neoplasm
  • malignant neoplasm of thalamus
diencephalic neoplasm
  • malignant diencephalic neoplasm
retinitis pigmentosa 38
  • rp38
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

APC1_HUMAN
  • Rothmund-Thomson syndrome 1 (RTS1) [MIM:618625]: An autosomal recessive disorder characterized by sparse hair, bilateral juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dystrophic and thin nails, and genital, skeletal and dental abnormalities. RTS1 is not associated with an increased risk of cancer. {ECO:0000269 PubMed:31303264}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ANAPC1

genes like me logo Genes that share disorders with ANAPC1: view

No data available for Genatlas for ANAPC1 Gene

Publications for ANAPC1 Gene

  1. Characterisation of the human APC1, the largest subunit of the anaphase-promoting complex. (PMID: 11179667) Jörgensen PM … Höög C (Gene 2001) 2 3 4 23
  2. Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1. (PMID: 31303264) Ajeawung NF … Campeau PM (American journal of human genetics 2019) 3 4
  3. Atomic structure of the APC/C and its mechanism of protein ubiquitination. (PMID: 26083744) Chang L … Barford D (Nature 2015) 3 4
  4. Molecular architecture and mechanism of the anaphase-promoting complex. (PMID: 25043029) Chang LF … Barford D (Nature 2014) 3 4
  5. Mechanism of ubiquitin-chain formation by the human anaphase-promoting complex. (PMID: 18485873) Jin L … Rape M (Cell 2008) 3 4

Products for ANAPC1 Gene

Sources for ANAPC1 Gene