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APC adenomatous polyposis coli [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_001127510 Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA. Full Length Quote
ORF Sequence Quote
NM_000038 Homo sapiens adenomatous polyposis coli (APC), transcript variant 3, mRNA. Full Length Quote
ORF Sequence Quote
NM_001127511 Homo sapiens adenomatous polyposis coli (APC), transcript variant 1, mRNA. Full Length Quote
ORF Sequence Quote


Gene Symbol APC
Entrez Gene ID 324
Full Name adenomatous polyposis coli
Synonyms BTPS2, DP2, DP2.5, DP3, GS
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

5

5q21-q22

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].
Disorder

MIM: 611731

Adenomatous polyposis coli, 175100 (3); Gastric cancer, somatic,

mRNA NM_001127510, 307133685
Protein NP_001120982, 189011566
Product adenomatous polyposis coli protein isoform b
RefSeq Status REVIEWED
mRNA NM_000038, 307133686
Protein NP_000029, 53759122
Product adenomatous polyposis coli protein isoform b
RefSeq Status REVIEWED
mRNA NM_001127511, 306922385
Protein NP_001120983, 306922386
Product adenomatous polyposis coli protein isoform a
RefSeq Status REVIEWED
KEGG
hsa05210Colorectal cancer
hsa05200Pathways in cancer
hsa04310Wnt signaling pathway
hsa05217Basal cell carcinoma
hsa05213Endometrial cancer
hsa04810Regulation of actin cytoskeleton
Pathway Interaction Database
cdc42_reg_pathwayRegulation of CDC42 activity
ps1pathwayPresenilin action in Notch and Wnt signaling
wnt_canonical_pathwayCanonical Wnt signaling pathway
wnt_beta_catenin_pathwayRegulation of Wnt-mediated beta catenin signaling and target gene transcription
cdc42_pathwayCDC42 signaling events
p53downstreampathwayDirect p53 effectors
met_pathwaySignaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)
WikiPathways
WP428Wnt Signaling Pathway
WP710DNA damage response (only ATM dependent)
WP229Irinotecan Pathway
WP51Regulation of Actin Cytoskeleton
WP399Wnt Signaling Pathway and Pluripotency
WP363Wnt Signaling Pathway NetPath
Reactome
REACT_11045Signaling by Wnt
REACT_11063Degradation of beta-catenin by the destruction complex
REACT_11065Beta-catenin phosphorylation cascade
REACT_107Apoptotic cleavage of cellular proteins
REACT_578Apoptosis
REACT_995Apoptotic execution phase
Homo sapiens (human)APCNP_000029.2
Pan troglodytes (chimpanzee)APCXP_001143366.1
Canis lupus familiaris (dog)APCXP_536285.2
Bos taurus (cattle)APCXP_001787655.1
Mus musculus (house mouse)ApcNP_031488.2
Rattus norvegicus (Norway rat)ApcNP_036631.1
Gallus gallus (chicken)APCXP_001233411.1
Danio rerio (zebrafish)apcNP_001137312.1
Process
IDNameEvidence
GO:0000281cytokinesis after mitosisIMP
GO:0001822kidney developmentIEA
GO:0001942hair follicle developmentIEA
GO:0006461protein complex assemblyIDA
GO:0006915apoptosisTAS
GO:0006921cellular component disassembly involved in apoptosisTAS
GO:0006974response to DNA damage stimulusIDA
GO:0007026negative regulation of microtubule depolymerizationIDA
GO:0007026negative regulation of microtubule depolymerizationIMP
GO:0007050cell cycle arrestIDA
GO:0007091mitotic metaphase/anaphase transitionIEA
GO:0007094mitotic cell cycle spindle assembly checkpointIMP
GO:0007155cell adhesionNAS
GO:0007163establishment or maintenance of cell polarityIEA
GO:0007409axonogenesisIEA
GO:0008285negative regulation of cell proliferationIDA
GO:0009798axis specificationIEA
GO:0009952anterior/posterior pattern formationIEA
GO:0009953dorsal/ventral pattern formationIEA
GO:0009954proximal/distal pattern formationIEA
GO:0016477cell migrationIMP
GO:0030335positive regulation of cell migrationIMP
GO:0030858positive regulation of epithelial cell differentiationIEA
GO:0031016pancreas developmentIEA
GO:0031116positive regulation of microtubule polymerizationIEA
GO:0031122cytoplasmic microtubule organizationIEA
GO:0031175neuron projection developmentIEA
GO:0031274positive regulation of pseudopodium assemblyIMP
GO:0032886regulation of microtubule-based processIMP
GO:0033077T cell differentiation in thymusIEA
GO:0035019somatic stem cell maintenanceIEA
GO:0042483negative regulation of odontogenesisIEA
GO:0042493response to drugIEA
GO:0043065positive regulation of apoptosisIMP
GO:0043066negative regulation of apoptosisIEA
GO:0043409negative regulation of MAPKKK cascadeIEA
GO:0043588skin developmentIEA
GO:0045667regulation of osteoblast differentiationIEA
GO:0045670regulation of osteoclast differentiationIEA
GO:0045732positive regulation of protein catabolic processIC
GO:0045732positive regulation of protein catabolic processIGI
GO:0045736negative regulation of cyclin-dependent protein kinase activityIDA
GO:0045785positive regulation of cell adhesionIEA
GO:0046716muscle cell homeostasisIEA
GO:0048538thymus developmentIEA
GO:0051171regulation of nitrogen compound metabolic processIEA
GO:0051276chromosome organizationIEA
GO:0051726regulation of cell cycleIEA
GO:0051781positive regulation of cell divisionIEA
GO:0051988regulation of attachment of spindle microtubules to kinetochoreIMP
GO:0051988regulation of attachment of spindle microtubules to kinetochoreNAS
GO:0060041retina development in camera-type eyeIEA
GO:0060070canonical Wnt receptor signaling pathwayIC
GO:0060070canonical Wnt receptor signaling pathwayNAS
GO:0060770negative regulation of epithelial cell proliferation involved in prostate gland developmentIEA
GO:0070830tight junction assemblyNAS
GO:0090090negative regulation of canonical Wnt receptor signaling pathwayIGI
Component
IDNameEvidence
GO:0000776kinetochoreIDA
GO:0005634nucleusIDA
GO:0005737cytoplasmIDA
GO:0005813centrosomeIDA
GO:0005829cytosolEXP
GO:0005829cytosolTAS
GO:0005856cytoskeletonIEA
GO:0005881cytoplasmic microtubuleIEA
GO:0005886plasma membraneIDA
GO:0005886plasma membraneIDA
GO:0005913cell-cell adherens junctionIDA
GO:0005923tight junctionIDA
GO:0016328lateral plasma membraneIDA
GO:0030027lamellipodiumIDA
GO:0030054cell junctionIEA
GO:0030877beta-catenin destruction complexIDA
GO:0032587ruffle membraneIDA
GO:0034742APC-Axin-1-beta-catenin complexIDA
GO:0034747Axin-APC-beta-catenin-GSK3B complexIDA
GO:0034750Scrib-APC-beta-catenin complexIEA
GO:0035371microtubule plus endIEA
GO:0043025neuronal cell bodyIEA
GO:0044295axonal growth coneIEA
GO:0045202synapseIEA
Function
IDNameEvidence
GO:0005515protein bindingIPI
GO:0008013beta-catenin bindingIPI
GO:0008017microtubule bindingIDA
GO:0019887protein kinase regulator activityIDA
GO:0019901protein kinase bindingIPI
GO:0045295gamma-catenin bindingIPI
GO:0045296cadherin bindingIDA
GO:0051010microtubule plus-end bindingIDA
GeneCards APC
PDB 1EMU, 1T08, 1TH1, 2RQU, 1JPP, 1M5I, 1V18, 1DEB
UniProt B7Z2B6, Q4LE70, P25054
MIM 611731
Ensembl ENSG00000134982
HGNC 583
HPRD 01439

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