Homo sapiens Gene: APC
Summary
InnateDB Gene IDBG-37007.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol APC
Gene Name adenomatous polyposis coli
Synonyms BTPS2; DP2; DP2.5; DP3; GS; PPP1R46;
Species Homo sapiens
Ensembl Gene ENSG00000134982
Encoded Proteins
adenomatous polyposis coli
adenomatous polyposis coli
adenomatous polyposis coli
adenomatous polyposis coli
adenomatous polyposis coli
adenomatous polyposis coli
adenomatous polyposis coli
adenomatous polyposis coli
adenomatous polyposis coli
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:112707498-112846239
Strand Forward strand
Band q22.2
Transcripts
ENST00000257430 ENSP00000257430
ENST00000509732 ENSP00000426541
ENST00000505350 ENSP00000481752
ENST00000507379 ENSP00000423224
ENST00000508624 ENSP00000424265
ENST00000508376 ENSP00000427089
ENST00000512211 ENSP00000423828
ENST00000502371 ENSP00000484935
ENST00000504915 ENSP00000473355
ENST00000505084
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 194 experimentally validated interaction(s) in this database.
They are also associated with 44 interaction(s) predicted by orthology.
Experimentally validated
Total 194 [view]
Protein-Protein 192 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 44 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005488 binding
GO:0005515 protein binding
GO:0008013 beta-catenin binding
GO:0008017 microtubule binding
GO:0019887 protein kinase regulator activity
GO:0019901 protein kinase binding
GO:0045295 gamma-catenin binding
GO:0051010 microtubule plus-end binding
Biological Process
GO:0000281 mitotic cytokinesis
GO:0001822 kidney development
GO:0001942 hair follicle development
GO:0006461 protein complex assembly
GO:0006915 apoptotic process
GO:0006921 cellular component disassembly involved in execution phase of apoptosis
GO:0006974 cellular response to DNA damage stimulus
GO:0007026 negative regulation of microtubule depolymerization
GO:0007050 cell cycle arrest
GO:0007091 metaphase/anaphase transition of mitotic cell cycle
GO:0007094 mitotic spindle assembly checkpoint
GO:0007155 cell adhesion
GO:0007389 pattern specification process
GO:0007409 axonogenesis
GO:0008285 negative regulation of cell proliferation
GO:0009798 axis specification
GO:0009952 anterior/posterior pattern specification
GO:0009953 dorsal/ventral pattern formation
GO:0009954 proximal/distal pattern formation
GO:0016055 Wnt signaling pathway
GO:0016477 cell migration
GO:0019827 stem cell maintenance
GO:0030178 negative regulation of Wnt signaling pathway
GO:0030334 regulation of cell migration
GO:0030335 positive regulation of cell migration
GO:0030856 regulation of epithelial cell differentiation
GO:0030858 positive regulation of epithelial cell differentiation
GO:0031116 positive regulation of microtubule polymerization
GO:0031122 cytoplasmic microtubule organization
GO:0031274 positive regulation of pseudopodium assembly
GO:0032886 regulation of microtubule-based process
GO:0033077 T cell differentiation in thymus
GO:0035019 somatic stem cell maintenance
GO:0042483 negative regulation of odontogenesis
GO:0043065 positive regulation of apoptotic process
GO:0043066 negative regulation of apoptotic process
GO:0043409 negative regulation of MAPK cascade
GO:0043588 skin development
GO:0044336 canonical Wnt signaling pathway involved in negative regulation of apoptotic process
GO:0044337 canonical Wnt signaling pathway involved in positive regulation of apoptotic process
GO:0045595 regulation of cell differentiation
GO:0045597 positive regulation of cell differentiation
GO:0045667 regulation of osteoblast differentiation
GO:0045670 regulation of osteoclast differentiation
GO:0045732 positive regulation of protein catabolic process
GO:0045736 negative regulation of cyclin-dependent protein serine/threonine kinase activity
GO:0045785 positive regulation of cell adhesion
GO:0046716 muscle cell cellular homeostasis
GO:0048538 thymus development
GO:0050680 negative regulation of epithelial cell proliferation
GO:0051171 regulation of nitrogen compound metabolic process
GO:0051276 chromosome organization
GO:0051726 regulation of cell cycle
GO:0051781 positive regulation of cell division
GO:0051988 regulation of attachment of spindle microtubules to kinetochore
GO:0060041 retina development in camera-type eye
GO:0060070 canonical Wnt signaling pathway
GO:0060770 negative regulation of epithelial cell proliferation involved in prostate gland development
GO:0070830 tight junction assembly
GO:0090090 negative regulation of canonical Wnt signaling pathway
Cellular Component
GO:0000776 kinetochore
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005829 cytosol
GO:0005881 cytoplasmic microtubule
GO:0005886 plasma membrane
GO:0005913 cell-cell adherens junction
GO:0005923 tight junction
GO:0016328 lateral plasma membrane
GO:0030027 lamellipodium
GO:0030424 axon
GO:0030426 growth cone
GO:0030877 beta-catenin destruction complex
GO:0031253 cell projection membrane
GO:0032587 ruffle membrane
GO:0035371 microtubule plus-end
GO:0042995 cell projection
GO:0044295 axonal growth cone
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
Wnt pathway
REACTOME
truncated APC mutants destabilize the destruction complex pathway
Apoptotic execution phase pathway
Beta-catenin phosphorylation cascade pathway
AXIN mutants destabilize the destruction complex, activating WNT signaling pathway
APC truncation mutants are not K63 polyubiquitinated pathway
AMER1 mutants destabilize the destruction complex pathway
misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling pathway
Signaling by WNT in cancer pathway
AXIN missense mutants destabilize the destruction complex pathway
Signaling by Wnt pathway
disassembly of the destruction complex and recruitment of AXIN to the membrane pathway
APC truncation mutants have impaired AXIN binding pathway
Degradation of beta-catenin by the destruction complex pathway
deactivation of the beta-catenin transactivating complex pathway
T41 mutants of beta-catenin aren't phosphorylated pathway
Apoptosis pathway
Signal Transduction pathway
misspliced GSK3beta mutants stabilize beta-catenin pathway
S45 mutants of beta-catenin aren't phosphorylated pathway
deletions in the AMER1 gene destabilize the destruction complex pathway
Apoptotic cleavage of cellular proteins pathway
S33 mutants of beta-catenin aren't phosphorylated pathway
truncations of AMER1 destabilize the destruction complex pathway
phosphorylation site mutants of CTNNB1 are not targeted to the proteasome by the destruction complex pathway
TCF dependent signaling in response to WNT pathway
deletions in the AXIN genes in hepatocellular carcinoma result in elevated WNT signaling pathway
RNF mutants show enhanced WNT signaling and proliferation pathway
TCF7L2 mutants don't bind CTBP pathway
XAV939 inhibits tankyrase, stabilizing AXIN pathway
S37 mutants of beta-catenin aren't phosphorylated pathway
Disease pathway
KEGG
Wnt signaling pathway pathway
Regulation of actin cytoskeleton pathway
Pathways in cancer pathway
Colorectal cancer pathway
Endometrial cancer pathway
Basal cell carcinoma pathway
INOH
Wnt signaling pathway pathway
PID BIOCARTA
PID NCI
Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)
Presenilin action in Notch and Wnt signaling
Direct p53 effectors
Regulation of nuclear beta catenin signaling and target gene transcription
CDC42 signaling events
Canonical Wnt signaling pathway
Regulation of CDC42 activity
Degradation of beta catenin
Cross-References
SwissProt
TrEMBL D6RFL6
UniProt Splice Variant
Entrez Gene 324
UniGene Hs.158932 Hs.621884 Hs.727274 Hs.739006
RefSeq NM_000038 NM_001127510 NM_001127511
HUGO HGNC:583
OMIM 611731
CCDS CCDS4107
HPRD 01439
IMGT
EMBL AC008575 AC136500
GenPept
RNA Seq Atlas 324