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APC APC, WNT signaling pathway regulator [ Homo sapiens (human) ]

Gene ID: 324, updated on 27-Mar-2017
Official Symbol
APCprovided by HGNC
Official Full Name
APC, WNT signaling pathway regulatorprovided by HGNC
Primary source
HGNC:HGNC:583
See related
Ensembl:ENSG00000134982 MIM:611731; Vega:OTTHUMG00000128806
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
GS; DP2; DP3; BTPS2; DP2.5; PPP1R46
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]
Orthologs
Location:
5q22.2
Exon count:
18
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (112707505..112846239)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (112043202..112181936)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2200 Neighboring gene uncharacterized LOC102467216 Neighboring gene RNA, U6 small nuclear 482, pseudogene Neighboring gene chromobox 3 pseudogene 3 Neighboring gene signal recognition particle 19 Neighboring gene receptor accessory protein 5 Neighboring gene X-box binding protein 1 pseudogene 1 Neighboring gene zinc finger CCCH-type, RNA binding motif and serine/arginine rich 1

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in APC that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Associated conditions

Description Tests
Carcinoma of colon
MedGen: C0699790 OMIM: 114500 GeneReviews: Not available
Compare labs
Desmoid disease, hereditary
MedGen: C1851124 OMIM: 135290 GeneReviews: Not available
Compare labs
Familial adenomatous polyposis 1 Compare labs
Hepatocellular carcinoma
MedGen: C2239176 OMIM: 114550 GeneReviews: Not available
Compare labs
Neoplasm of stomach
MedGen: C0038356 OMIM: 613659 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-07-06)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-06)

ClinGen Genome Curation PagePubMed
  • AMER1 mutants destabilize the destruction complex, organism-specific biosystem (from REACTOME)
    AMER1 mutants destabilize the destruction complex, organism-specific biosystemAMER1/WTX is a component of the destruction complex that interacts directly with beta-catenin through its C-terminal half. Depletion of AMER1 through siRNA stabilizes cellular beta-catenin levels an...
  • APC truncation mutants are not K63 polyubiquitinated, organism-specific biosystem (from REACTOME)
    APC truncation mutants are not K63 polyubiquitinated, organism-specific biosystemAPC has been shown to be reversibly modified with K63-linked polyubiquitin chains. This modification is required for the association is required for the assembly of the destruction complex and subse...
  • APC truncation mutants have impaired AXIN binding, organism-specific biosystem (from REACTOME)
    APC truncation mutants have impaired AXIN binding, organism-specific biosystemMutations in the APC tumor suppressor gene are common in colorectal and other cancers and cluster in the central mutation cluster region (MCR) of the gene (Miyoshi et al, 1992; Nagase and Nakamura, ...
  • AXIN missense mutants destabilize the destruction complex, organism-specific biosystem (from REACTOME)
    AXIN missense mutants destabilize the destruction complex, organism-specific biosystemAlterations in AXIN1 have been detected in a number of different cancers including liver and colorectal cancer and medullablastoma, among others (reviewed in Salahshor and Woodgett, 2005). Missense ...
  • AXIN mutants destabilize the destruction complex, activating WNT signaling, organism-specific biosystem (from REACTOME)
    AXIN mutants destabilize the destruction complex, activating WNT signaling, organism-specific biosystemAXIN1 and AXIN2 are critical scaffolding proteins of the beta-catenin destruction complex and make protein-protein interactions with several of the other complex components including APC, GSK3, CK1 a...
  • Apoptosis, organism-specific biosystem (from REACTOME)
    Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
  • Apoptotic cleavage of cellular proteins, organism-specific biosystem (from REACTOME)
    Apoptotic cleavage of cellular proteins, organism-specific biosystemApoptotic cell death is achieved by the caspase-mediatedcleavage of various vital proteins. Among caspase targets are proteins such as E-cadherin, Beta-catenin, alpha fodrin, GAS2, FADK, alpha adduc...
  • Apoptotic execution phase, organism-specific biosystem (from REACTOME)
    Apoptotic execution phase, organism-specific biosystemIn the execution phase of apoptosis, effector caspases cleave vital cellular proteins leading to the morphological changes that characterize apoptosis. These changes include destruction of the nucle...
  • Association Between Physico-Chemical Features and Toxicity Associated Pathways, organism-specific biosystem (from WikiPathways)
    Association Between Physico-Chemical Features and Toxicity Associated Pathways, organism-specific biosystemThis pathway is based on Figure 8 of "Mapping drug physico-chemical features to pathway activity reveals molecular networks linked to toxicity outcome."(See bibliography). These 3 pathways demonstr...
  • Basal cell carcinoma, organism-specific biosystem (from KEGG)
    Basal cell carcinoma, organism-specific biosystemCancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare fam...
  • Basal cell carcinoma, conserved biosystem (from KEGG)
    Basal cell carcinoma, conserved biosystemCancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare fam...
  • Beta-catenin phosphorylation cascade, organism-specific biosystem (from REACTOME)
    Beta-catenin phosphorylation cascade, organism-specific biosystemDegradation of beta-catenin is initiated following amino-terminal serine/threonine phosphorylation. Phosphorylation of B-catenin at S45 by CK1 alpha primes the subsequent sequential GSK-3-mediated p...
  • Brain-Derived Neurotrophic Factor (BDNF) signaling pathway, organism-specific biosystem (from WikiPathways)
    Brain-Derived Neurotrophic Factor (BDNF) signaling pathway, organism-specific biosystemBrain-derived neurotrophic factor (BDNF) is a neurotrophin essential for growth, differentiation, plasticity, and survival of neurons. BDNF is also required for processes such as energy metabolism, b...
  • Breast cancer, organism-specific biosystem (from KEGG)
    Breast cancer, organism-specific biosystemBreast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gla...
  • Breast cancer, conserved biosystem (from KEGG)
    Breast cancer, conserved biosystemBreast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gla...
  • CDC42 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    CDC42 signaling events, organism-specific biosystem
    CDC42 signaling events
  • Canonical Wnt signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    Canonical Wnt signaling pathway, organism-specific biosystem
    Canonical Wnt signaling pathway
  • Cell Cycle, organism-specific biosystem (from WikiPathways)
    Cell Cycle, organism-specific biosystemThe cell cycle is the series of events that takes place in a cell leading to its division and duplication (replication). Regulation of the cell cycle involves processes crucial to the survival of a c...
  • Colorectal cancer, organism-specific biosystem (from KEGG)
    Colorectal cancer, organism-specific biosystemColorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in ...
  • Colorectal cancer, conserved biosystem (from KEGG)
    Colorectal cancer, conserved biosystemColorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in ...
  • Copper homeostasis, organism-specific biosystem (from WikiPathways)
    Copper homeostasis, organism-specific biosystemCopper is a redox-active transition metal and an essential trace element for life. It is a catalytic cofactor for numerous enzymes involved in critical biological processes (eg. detoxyfication by oxy...
  • DNA Damage Response (only ATM dependent), organism-specific biosystem (from WikiPathways)
    DNA Damage Response (only ATM dependent), organism-specific biosystemThis is the second pathway out of two pathways which deals with DNA damage response. It has two central gene products (ATM and TP53) which are connected with the first DNA damage response pathway. In...
  • Deactivation of the beta-catenin transactivating complex, organism-specific biosystem (from REACTOME)
    Deactivation of the beta-catenin transactivating complex, organism-specific biosystemThe mechanisms involved in downregulation of TCF-dependent transcription are not yet very well understood. beta-catenin is known to recruit a number of transcriptional repressors, including Reptin, S...
  • Degradation of beta-catenin by the destruction complex, organism-specific biosystem (from REACTOME)
    Degradation of beta-catenin by the destruction complex, organism-specific biosystemThe beta-catenin destruction complex plays a key role in the canonical Wnt signaling pathway. In the absence of Wnt signaling, this complex controls the levels of cytoplamic beta-catenin. Beta-cateni...
  • Deubiquitination, organism-specific biosystem (from REACTOME)
    Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
  • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
    Direct p53 effectors, organism-specific biosystem
    Direct p53 effectors
  • Disassembly of the destruction complex and recruitment of AXIN to the membrane, organism-specific biosystem (from REACTOME)
    Disassembly of the destruction complex and recruitment of AXIN to the membrane, organism-specific biosystemUpon stimulation with WNT ligand, AXIN and GSK3beta are recruited to the plasma membrane through interaction with DVL (Tamai et al, 2004; Mao et al, 2001; reviewed in He et al, 2004). Polymerization...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
    Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
  • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • Endometrial cancer, organism-specific biosystem (from KEGG)
    Endometrial cancer, organism-specific biosystemEndometrial cancer (EC) is the most common gynaecological malignancy and the fourth most common malignancy in women in the developed world after breast, colorectal and lung cancer. Two types of endom...
  • Endometrial cancer, conserved biosystem (from KEGG)
    Endometrial cancer, conserved biosystemEndometrial cancer (EC) is the most common gynaecological malignancy and the fourth most common malignancy in women in the developed world after breast, colorectal and lung cancer. Two types of endom...
  • Extracellular vesicle-mediated signaling in recipient cells, organism-specific biosystem (from WikiPathways)
    Extracellular vesicle-mediated signaling in recipient cells, organism-specific biosystemProtein sorting during formation of multivesicular bodies results in packaging of key molecules in exosomes. Exosomes bound-signaling ligands once released from host cells interacts with the receptor...
  • Gastric Cancer Network 1, organism-specific biosystem (from WikiPathways)
    Gastric Cancer Network 1, organism-specific biosystemNetwork generated by mapping candidate oncogenes and tumor suppressor genes identified by integrated analysis of expression array and aCGH data. Networks generated by Ingenuity Pathway Analysis.
  • HTLV-I infection, organism-specific biosystem (from KEGG)
    HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
  • HTLV-I infection, conserved biosystem (from KEGG)
    HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
  • Hippo signaling pathway, organism-specific biosystem (from KEGG)
    Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Hippo signaling pathway, conserved biosystem (from KEGG)
    Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
  • Irinotecan Pathway, organism-specific biosystem (from WikiPathways)
    Irinotecan Pathway, organism-specific biosystemThis pathway shows the biotransformation of the chemotherapy prodrug irinotecan to form the active metabolite SN-38, an inhibitor of DNA topoisomerase I. SN-38 is primarily metabolized to the inactiv...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • MicroRNAs in cancer, organism-specific biosystem (from KEGG)
    MicroRNAs in cancer, organism-specific biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
  • MicroRNAs in cancer, conserved biosystem (from KEGG)
    MicroRNAs in cancer, conserved biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
  • Misspliced GSK3beta mutants stabilize beta-catenin, organism-specific biosystem (from REACTOME)
    Misspliced GSK3beta mutants stabilize beta-catenin, organism-specific biosystemGSK3beta is subject to in-frame missplicing in CML stem cells resulting in the production of mutant protein that lacks the AXIN and FRAT binding domains. Cells containing this mutant GSK3beta show e...
  • Ovarian tumor domain proteases, organism-specific biosystem (from REACTOME)
    Ovarian tumor domain proteases, organism-specific biosystemHumans have 16 Overian tumour domain (OTU) family DUBs that can be evolutionally divided into three classes, the OTUs, the Otubains (OTUBs), and the A20-like OTUs (Komander et al. 2009). OTU family ...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Presenilin action in Notch and Wnt signaling, organism-specific biosystem (from Pathway Interaction Database)
    Presenilin action in Notch and Wnt signaling, organism-specific biosystem
    Presenilin action in Notch and Wnt signaling
  • Programmed Cell Death, organism-specific biosystem (from REACTOME)
    Programmed Cell Death, organism-specific biosystemCell death is a fundamental cellular response that has a crucial role in shaping our bodies during development and in regulating tissue homeostasis by eliminating unwanted cells. There are a number o...
  • Regulation of Actin Cytoskeleton, organism-specific biosystem (from WikiPathways)
    Regulation of Actin Cytoskeleton, organism-specific biosystemhttp://www.genome.jp/kegg/pathway/hsa/hsa04810.html
  • Regulation of CDC42 activity, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of CDC42 activity, organism-specific biosystem
    Regulation of CDC42 activity
  • Regulation of Wnt-mediated beta catenin signaling and target gene transcription, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription, organism-specific biosystem
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription
  • Regulation of Wnt/B-catenin Signaling by Small Molecule Compounds, organism-specific biosystem (from WikiPathways)
    Regulation of Wnt/B-catenin Signaling by Small Molecule Compounds, organism-specific biosystemThe Wnt/B-catenin pathway begins with Wnt family activation by MBOAT that allows Wnt proteins to translocate out of a cell and bind to FZD and LRP to form a complex. This complex stimulates B-catenin...
  • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
    Regulation of actin cytoskeleton, organism-specific biosystem
    Regulation of actin cytoskeleton
  • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
    Regulation of actin cytoskeleton, conserved biosystem
    Regulation of actin cytoskeleton
  • S33 mutants of beta-catenin aren't phosphorylated, organism-specific biosystem (from REACTOME)
    S33 mutants of beta-catenin aren't phosphorylated, organism-specific biosystemS33 mutations of beta-catenin interfere with GSK3 phosphorylation and result in stabilization and nuclear localization of the protein and enhanced WNT signaling (Groen et al, 2008; Nhieu et al, 1999;...
  • S37 mutants of beta-catenin aren't phosphorylated, organism-specific biosystem (from REACTOME)
    S37 mutants of beta-catenin aren't phosphorylated, organism-specific biosystemS37 mutations of beta-catenin interfere with GSK3 phosphorylation and stabilize the protein, resulting in enhanced WNT pathway signaling (Nhieu et al, 1999; Clements et al, 2002; reviewed in Polakis,...
  • S45 mutants of beta-catenin aren't phosphorylated, organism-specific biosystem (from REACTOME)
    S45 mutants of beta-catenin aren't phosphorylated, organism-specific biosystemS45 mutants of beta-catenin have been identified in colorectal and hepatocellular carcinomas, soft tissue cancer and Wilms Tumors, among others (reviewed in Polakis, 2000). These mutations abolish th...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by WNT in cancer, organism-specific biosystem (from REACTOME)
    Signaling by WNT in cancer, organism-specific biosystemThe WNT signaling pathway has been linked with cancer ever since the identification of the first WNT as a gene activated by integration of mouse mammary tumor virus proviral DNA in virally-induced br...
  • Signaling by Wnt, organism-specific biosystem (from REACTOME)
    Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
  • Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met), organism-specific biosystem (from Pathway Interaction Database)
    Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met), organism-specific biosystem
    Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)
  • Signaling pathways regulating pluripotency of stem cells, organism-specific biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, organism-specific biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
  • Signaling pathways regulating pluripotency of stem cells, conserved biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, conserved biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
  • T41 mutants of beta-catenin aren't phosphorylated, organism-specific biosystem (from REACTOME)
    T41 mutants of beta-catenin aren't phosphorylated, organism-specific biosystemT41 mutations of beta-catenin interfere with GSK3 phosphorylation and result in stabilization and nuclear accumulation of the protein (Moreno-Bueno et al, 2002; Taniguchi et al, 2002; reviewed in Pol...
  • TCF dependent signaling in response to WNT, organism-specific biosystem (from REACTOME)
    TCF dependent signaling in response to WNT, organism-specific biosystem19 WNT ligands and 10 FZD receptors have been identified in human cells; interactions amongst these ligands and receptors vary in a developmental and tissue-specific manner and lead to activation of ...
  • Truncations of AMER1 destabilize the destruction complex, organism-specific biosystem (from REACTOME)
    Truncations of AMER1 destabilize the destruction complex, organism-specific biosystemAMER1/WTX is a known component of the destruction complex and interacts directly with beta-catenin through the C-terminal half (Major et al, 2007). siRNA depletion of AMER1 in mammalian cells stabil...
  • Wnt Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Wnt Signaling Pathway, organism-specific biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
  • Wnt Signaling Pathway Netpath, organism-specific biosystem (from WikiPathways)
    Wnt Signaling Pathway Netpath, organism-specific biosystemWNT signal, through the canonical pathway, controls cell fate determination and through the non-canonical pathway controls cell movement and tissue polarity. The name "wnt" is a fusion of two terms, ...
  • Wnt Signaling Pathway and Pluripotency, organism-specific biosystem (from WikiPathways)
    Wnt Signaling Pathway and Pluripotency, organism-specific biosystemThis pathway was adapted from several resources and is designed to provide a theoretical frame-work for examining Wnt signaling and interacting components in the context of embryonic stem-cell plurip...
  • Wnt signaling pathway, organism-specific biosystem (from KEGG)
    Wnt signaling pathway, organism-specific biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
  • Wnt signaling pathway, conserved biosystem (from KEGG)
    Wnt signaling pathway, conserved biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
  • Wnt/beta-catenin Signaling Pathway in Leukemia, organism-specific biosystem (from WikiPathways)
    Wnt/beta-catenin Signaling Pathway in Leukemia, organism-specific biosystemThe Wnt/Beta-catenin pathway mediates the transcription of proteins important for maintenance and growth of hematopoietic stem cells. The inhibition of Wnt leads to protein degradation through Beta-C...
  • phosphorylation site mutants of CTNNB1 are not targeted to the proteasome by the destruction complex, organism-specific biosystem (from REACTOME)
    phosphorylation site mutants of CTNNB1 are not targeted to the proteasome by the destruction complex, organism-specific biosystemMutations in exon 3 of the beta-catenin gene have been identified in a number of human cancers (Morin et al, 1997; Rubinfeld et al, 1997; reviewed in Polakis, 2000; Polakis, 2007). These mutations g...
  • truncated APC mutants destabilize the destruction complex, organism-specific biosystem (from REACTOME)
    truncated APC mutants destabilize the destruction complex, organism-specific biosystemAPC is a large and central component of the destruction complex, which limits signaling in the absence of WNT ligand by promoting the ubiquitin-mediated degradation of beta-catenin. APC interacts wi...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Potential readthrough

Included gene: SRP19

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
beta-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
NOT cadherin binding IDA
Inferred from Direct Assay
more info
PubMed 
dynein complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
gamma-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
microtubule binding IDA
Inferred from Direct Assay
more info
PubMed 
microtubule plus-end binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin protein ligase binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
Wnt signaling pathway TAS
Traceable Author Statement
more info
 
beta-catenin destruction complex assembly TAS
Traceable Author Statement
more info
 
beta-catenin destruction complex disassembly TAS
Traceable Author Statement
more info
 
bicellular tight junction assembly NAS
Non-traceable Author Statement
more info
PubMed 
canonical Wnt signaling pathway IC
Inferred by Curator
more info
PubMed 
canonical Wnt signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
cell cycle arrest IDA
Inferred from Direct Assay
more info
PubMed 
cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
execution phase of apoptosis TAS
Traceable Author Statement
more info
 
insulin receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic spindle assembly checkpoint IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of canonical Wnt signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of canonical Wnt signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cyclin-dependent protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of microtubule depolymerization IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of microtubule depolymerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell death IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein catabolic process IC
Inferred by Curator
more info
PubMed 
positive regulation of protein catabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of protein localization to centrosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of pseudopodium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
proteasome-mediated ubiquitin-dependent protein catabolic process TAS
Traceable Author Statement
more info
 
protein complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
protein deubiquitination TAS
Traceable Author Statement
more info
 
protein homooligomerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of attachment of spindle microtubules to kinetochore IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of attachment of spindle microtubules to kinetochore NAS
Non-traceable Author Statement
more info
PubMed 
regulation of microtubule-based process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Wnt signalosome NAS
Non-traceable Author Statement
more info
PubMed 
beta-catenin destruction complex IDA
Inferred from Direct Assay
more info
PubMed 
bicellular tight junction IDA
Inferred from Direct Assay
more info
PubMed 
catenin complex IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with cell-cell adherens junction IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
lateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with microtubule IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
ruffle membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
adenomatous polyposis coli protein
Names
WNT signaling pathway regulator
adenomatosis polyposis coli tumor suppressor
deleted in polyposis 2.5
protein phosphatase 1, regulatory subunit 46
truncated adenomatosis polyposis coli

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.

Genomic

  1. NG_008481.4 RefSeqGene

    Range
    19985..158719
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_130

mRNA and Protein(s)

  1. NM_000038.5NP_000029.2  adenomatous polyposis coli protein isoform b

    See identical proteins and their annotated locations for NP_000029.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. This variant also contains an alternate in-frame exon compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is longer than isoform a. Variants 2 and 3 encode the same isoform (b).
    Source sequence(s)
    AB210001, CA313732, DA795663, M73548
    Consensus CDS
    CCDS4107.1
    UniProtKB/Swiss-Prot
    P25054
    UniProtKB/TrEMBL
    Q4LE70
    Related
    ENSP00000257430, OTTHUMP00000159019, ENST00000257430, OTTHUMT00000250738
    Conserved Domains (14) summary
    cd00020
    Location:611731
    ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
    pfam05923
    Location:16371661
    APC_crr; APC cysteine-rich region
    pfam05924
    Location:20342053
    SAMP; SAMP Motif
    pfam05937
    Location:26702843
    EB1_binding; EB-1 Binding Domain
    pfam05956
    Location:22232568
    APC_basic; APC basic domain
    pfam11414
    Location:127207
    Suppressor_APC; Adenomatous polyposis coli tumour suppressor protein
    pfam16629
    Location:7321019
    Arm_APC_u3; Armadillo-associated region on APC
    pfam16630
    Location:10361135
    APC_u5; Unstructured region on APC between 1st and 2nd catenin-bdg motifs
    pfam16633
    Location:12831368
    APC_u9; Unstructured region on APC between 1st two creatine-rich regions
    pfam16634
    Location:16621718
    APC_u13; Unstructured region on APC between APC_crr and SAMP
    pfam16635
    Location:17391839
    APC_u14; Unstructured region on APC between SAMP and APC_crr
    pfam16636
    Location:18761947
    APC_u15; Unstructured region on APC between APC_crr regions 5 and 6
    pfam16689
    Location:455
    APC_N_CC; Coiled-coil N-terminus of APC, dimerization domain
    sd00043
    Location:465508
    ARM; armadillo repeat [structural motif]
  2. NM_001127510.2NP_001120982.1  adenomatous polyposis coli protein isoform b

    See identical proteins and their annotated locations for NP_001120982.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. This variant also contains an alternate in-frame exon compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is longer than isoform a. Variants 2 and 3 encode the same isoform (b).
    Source sequence(s)
    AB210001, CA313732, DA795663
    Consensus CDS
    CCDS4107.1
    UniProtKB/Swiss-Prot
    P25054
    UniProtKB/TrEMBL
    Q4LE70
    Related
    ENSP00000427089, OTTHUMP00000222841, ENST00000508376, OTTHUMT00000370794
    Conserved Domains (14) summary
    cd00020
    Location:611731
    ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
    pfam05923
    Location:16371661
    APC_crr; APC cysteine-rich region
    pfam05924
    Location:20342053
    SAMP; SAMP Motif
    pfam05937
    Location:26702843
    EB1_binding; EB-1 Binding Domain
    pfam05956
    Location:22232568
    APC_basic; APC basic domain
    pfam11414
    Location:127207
    Suppressor_APC; Adenomatous polyposis coli tumour suppressor protein
    pfam16629
    Location:7321019
    Arm_APC_u3; Armadillo-associated region on APC
    pfam16630
    Location:10361135
    APC_u5; Unstructured region on APC between 1st and 2nd catenin-bdg motifs
    pfam16633
    Location:12831368
    APC_u9; Unstructured region on APC between 1st two creatine-rich regions
    pfam16634
    Location:16621718
    APC_u13; Unstructured region on APC between APC_crr and SAMP
    pfam16635
    Location:17391839
    APC_u14; Unstructured region on APC between SAMP and APC_crr
    pfam16636
    Location:18761947
    APC_u15; Unstructured region on APC between APC_crr regions 5 and 6
    pfam16689
    Location:455
    APC_N_CC; Coiled-coil N-terminus of APC, dimerization domain
    sd00043
    Location:465508
    ARM; armadillo repeat [structural motif]
  3. NM_001127511.2NP_001120983.2  adenomatous polyposis coli protein isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the shorter isoform (a).
    Source sequence(s)
    AB210001, AK294544, BP230350, CA313732
    UniProtKB/TrEMBL
    B7Z2B6, Q4LE70
    Conserved Domains (13) summary
    cd00020
    Location:593713
    ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
    pfam05923
    Location:16191643
    APC_crr; APC cysteine-rich region
    pfam05924
    Location:20162035
    SAMP; SAMP Motif
    pfam05937
    Location:26522825
    EB1_binding; EB-1 Binding Domain
    pfam05956
    Location:22052550
    APC_basic; APC basic domain
    pfam11414
    Location:137217
    Suppressor_APC; Adenomatous polyposis coli tumour suppressor protein
    pfam16629
    Location:7141001
    Arm_APC_u3; Armadillo-associated region on APC
    pfam16630
    Location:10181117
    APC_u5; Unstructured region on APC between 1st and 2nd catenin-bdg motifs
    pfam16633
    Location:12651350
    APC_u9; Unstructured region on APC between 1st two creatine-rich regions
    pfam16634
    Location:16441700
    APC_u13; Unstructured region on APC between APC_crr and SAMP
    pfam16635
    Location:17211821
    APC_u14; Unstructured region on APC between SAMP and APC_crr
    pfam16636
    Location:18581929
    APC_u15; Unstructured region on APC between APC_crr regions 5 and 6
    sd00043
    Location:447490
    ARM; armadillo repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

    Range
    112707505..112846239
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 Alternate CHM1_1.1

    Range
    111476576..111615241
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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