APC

Gene Information
 
Gene Symbol
APC
 
Aliases
BTPS2, DP2, DP2.5, DP3, GS, PPP1R46
 
Entrez Gene ID
324
 
Gene Name
Adenomatous polyposis coli
 
Chromosomal Location
5q21-q22
 
HGNC ID
583
 
Summary
This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. (provided by RefSeq, Jul 2008)
 
GeneCards ID
 
UniGene
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0000281 Biological process Mitotic cytokinesis IMP 17570218
GO:0006461 Biological process Protein complex assembly IDA 16188939
GO:0006974 Biological process Cellular response to DNA damage stimulus IDA 14728717
GO:0007026 Biological process Negative regulation of microtubule depolymerization IMP 17192415
GO:0007050 Biological process Cell cycle arrest IDA 8521819
Protein Information
 
Protein Name
Adenomatous polyposis coli protein
 
Function
Tumor suppressor. Promotes rapid degradation of CTNNB1 and participates in Wnt signaling as a negative regulator. APC activity is correlated with its phosphorylation state. Activates the GEF activity of SPATA13 and ARHGEF4. Plays a role in hepatocyte growth factor (HGF)-induced cell migration. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal tumor cells. Acts as a mediator of ERBB2-dependent stabilization of microtubules at the cell cortex. It is required for the localization of MACF1 to the cell membrane and this localization of MACF1 is critical for its function in microtubule stabilization
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00514 Arm Armadillo/beta-catenin-like repeat
PF05923 APC_crr APC cysteine-rich region
PF05924 SAMP SAMP Motif
PF05937 EB1_binding EB-1 Binding Domain
PF05956 APC_basic APC basic domain
PF05972 APC_15aa APC 15 residue motif
PF11414 Suppressor_APC Adenomatous polyposis coli tumour suppressor protein
 
KEGG
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Polycystic ovary syndrome (PCOS) 19253106
   
References
 
Primary:

Thrombin activatable fibrinolysis inhibitor and other hemostatic parameters in patients with polycystic ovary syndrome.

Oral Baha, Mermi Betul, Dilek Mufide, Alanoglu Guchan, Sutcu Recep
Department of Obstetrics and Gynecology, School of Medicine, Suleyman Demirel University, Isparta, Turkey. baha@med.sdu.edu.tr
Gynecol Endocrinol. 2009 Feb;25(2):110-6. doi: 10.1080/09513590802549874.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
TAFI,plasminogen activator inhibitor-1 (PAI-1) ,fibrinogen,thrombomodulin,lipoproteins, thrombin-antithrombin (TAT) complexes, D-dimer, Protein C Antigen, Protein S Antigen, Antithrombin III (AT III) 
 
 
 
Related 
 
 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
21231824
A possible role for familial thrombophilia in women with polycystic ovarian syndrome. 
Clinical study 

 

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