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Aliases for APC Gene

Aliases for APC Gene

  • Adenomatous Polyposis Coli 2 3
  • Deleted In Polyposis 2.5 3 4
  • BTPS2 3 6
  • DP2.5 3 4
  • GS 3 6
  • Adenomatosis Polyposis Coli Tumor Suppressor 3
  • Protein Phosphatase 1, Regulatory Subunit 46 3
  • Adenomatous Polyposis Coli Protein 3
  • Adenomatosis Polyposis Coli 2
  • Protein Phosphatase 1 2
  • Regulatory Subunit 46 2
  • Protein APC 4
  • PPP1R46 3
  • DP3 3
  • DP2 3
  • FPC 6

External Ids for APC Gene

Summaries for APC Gene

Entrez Gene Summary for APC Gene

  • 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 Summary for APC Gene

APC (Adenomatous Polyposis Coli) is a Protein Coding gene. Diseases associated with APC include apc-associated polyposis conditions and fourth cranial nerve palsy. Among its related pathways are Signaling by GPCR and Regulation of actin cytoskeleton. GO annotations related to this gene include protein kinase binding and beta-catenin binding. An important paralog of this gene is ENSG00000258864.

UniProtKB/Swiss-Prot for APC Gene

  • 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.

Gene Wiki entry for APC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APC Gene

Genomics for APC Gene

Genomic Location for APC Gene

Start:
112,707,498 bp from pter
End:
112,846,239 bp from pter
Size:
138,742 bases
Orientation:
Plus strand

Genomic View for APC Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for APC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APC Gene

Regulatory Elements for APC Gene

Proteins for APC Gene

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

    Protein Symbol:
    P25054-APC_HUMAN
    Recommended name:
    Adenomatous polyposis coli protein
    Protein Accession:
    P25054
    Secondary Accessions:
    • D3DT03
    • Q15162
    • Q15163
    • Q93042

    Protein attributes for APC Gene

    Size:
    2843 amino acids
    Molecular mass:
    311646 Da
    Quaternary structure:
    • Forms homooligomers and heterooligomers with APC2. Interacts with DIAPH1 and DIAPH2 (By similarity). Interacts with PDZ domains of DLG1 and DLG3. Associates with catenins. Binds axin. Interacts with ARHGEF4 (via N-terminus). Interacts with MAPRE1 (via C-terminus); probably required for APC targeting to the growing microtubule plus ends. Interacts with MAPRE2 and MAPRE3 (via C-terminus). Found in a complex consisting of ARHGEF4, APC and CTNNB1. Interacts with SCRIB; may mediate APC targeting to adherens junctions of epithelial cells. Interacts with SPATA13 (via N-terminus and SH3 domain). Interacts with ASAP1 (via SH3 domain). Found in a complex composed of MACF1, APC, AXIN1, CTNNB1 and GSK3B (By similarity). Interacts at the cell membrane with AMER1 and AMER2 (via ARM repeats).
    Miscellaneous:
    • APC mutations have led to some interesting observations. (1) the great majority of the mutations found to date would result in truncation of the APC product. (2) almost all the mutations have occurred within the first half of the coding sequence, and somatic mutations in colorectal tumors are further clustered in a particular region, called MCR (mutation cluster region). (3) most identified point mutations in the APC gene are transitions from cytosine to other nucleotides. (4) the location of germline mutations tends to correlate with the number of colorectal polyps in FAP patients. Inactivation of both alleles of the APC gene seems to be required as an early event to develop most adenomas and carcinomas in the colon and rectum as well as some of those in the stomach

    Three dimensional structures from OCA and Proteopedia for APC Gene

    Alternative splice isoforms for APC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for APC Gene

Proteomics data for APC Gene at MOPED

Post-translational modifications for APC Gene

  • Phosphorylated by GSK3B
  • Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is facilitated by Axin. Deubiquitinated by ZRANB1/TRABID.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for APC Gene

Domains for APC Gene

Gene Families for APC Gene

HGNC:
  • ARMC :Armadillo repeat containing
  • PPP1R :Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits

UniProtKB/Swiss-Prot:

APC_HUMAN
Domain:
  • The microtubule tip localization signal (MtLS) motif; mediates interaction with MAPRE1 and targeting to the growing microtubule plus ends.:
    • P25054
Family:
  • Belongs to the adenomatous polyposis coli (APC) family.:
    • P25054
Similarity:
  • Contains 7 ARM repeats.:
    • P25054
genes like me logo Genes that share domains with APC: view

Function for APC Gene

Molecular function for APC Gene

GENATLAS Biochemistry: multidomain protein,binding beta-catenin and regulating free beta-catenin level,involved in cell adhesion and active cell migration,mutated in adenomatous polyposis coli,colon and rectum carcinoma non polyposis,modulating the frequency and classes of mutation leading to colon polyps
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for APC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding --
GO:0005515 protein binding IPI 10656683
GO:0008013 beta-catenin binding IPI 10773885
GO:0008017 microtubule binding IDA 11166179
GO:0019887 protein kinase regulator activity IDA 11972058
genes like me logo Genes that share ontologies with APC: view
genes like me logo Genes that share phenotypes with APC: view

Animal Models for APC Gene

MGI Knock Outs for APC:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for APC Gene

Localization for APC Gene

Subcellular locations from UniProtKB/Swiss-Prot for APC Gene

Cell junction, adherens junction. Cytoplasm, cytoskeleton. Cell projection, lamellipodium. Cell projection, ruffle membrane. Cytoplasm. Cell membrane. Note=Associated with the microtubule network at the growing distal tip of microtubules. Accumulates in the lamellipodium and ruffle membrane in response to hepatocyte growth factor (HGF) treatment. The MEMO1-RHOA-DIAPH1 signaling pathway controls localization of the phosophorylated form to the cell membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for APC Gene COMPARTMENTS Subcellular localization image for APC gene
Compartment Confidence
cytoskeleton 5
nucleus 5
plasma membrane 5
cytosol 4

Gene Ontology (GO) - Cellular Components for APC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 kinetochore IDA 11283619
GO:0005634 nucleus IDA 11035805
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA 11035805
GO:0005813 centrosome IDA 11283619
genes like me logo Genes that share ontologies with APC: view

Pathways for APC Gene

genes like me logo Genes that share pathways with APC: view

Gene Ontology (GO) - Biological Process for APC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000281 mitotic cytokinesis IMP 17570218
GO:0001822 kidney development IEA --
GO:0001942 hair follicle development IEA --
GO:0006461 protein complex assembly IDA 16188939
GO:0006915 apoptotic process TAS --
genes like me logo Genes that share ontologies with APC: view

Compounds for APC Gene

(88) Novoseek inferred chemical compound relationships for APC Gene

Compound -log(P) Hits PubMed IDs
af/ap 80.5 4
crcs 74.3 8
sulindac 60.9 7
phip 60.7 14
glycogen 59.9 94
genes like me logo Genes that share compounds with APC: view

Transcripts for APC Gene

Unigene Clusters for APC Gene

Adenomatous polyposis coli:
Representative Sequences:

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17
SP1: -
SP2: -
SP3:

Relevant External Links for APC Gene

GeneLoc Exon Structure for
APC
ECgene alternative splicing isoforms for
APC

Expression for APC Gene

mRNA expression in normal human tissues for APC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for APC Gene

This gene is overexpressed in Brain - Amygdala (5.6) and Brain - Hippocampus (5.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for APC Gene

SOURCE GeneReport for Unigene cluster for APC Gene Hs.158932

mRNA Expression by UniProt/SwissProt for APC Gene

P25054-APC_HUMAN
Tissue specificity: Expressed in a variety of tissues
genes like me logo Genes that share expressions with APC: view

Orthologs for APC Gene

This gene was present in the common ancestor of animals.

Orthologs for APC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia APC 36
  • 99.66 (n)
  • 99.51 (a)
APC 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia APC 36
  • 91.92 (n)
  • 94.76 (a)
APC 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 37
  • 92 (a)
OneToMany
-- 37
  • 98 (a)
OneToMany
APC 36
  • 90.7 (n)
  • 93.74 (a)
mouse
(Mus musculus)
Mammalia Apc 36
  • 87.53 (n)
  • 90.77 (a)
Apc 16
Apc 37
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 84 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 87 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Apc 36
  • 86.12 (n)
  • 90.27 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 84 (a)
OneToMany
APC 36
  • 80.62 (n)
  • 85.48 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 97 (a)
ManyToMany
-- 37
  • 82 (a)
ManyToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.8436 36
tropical clawed frog
(Silurana tropicalis)
Amphibia apc 36
  • 73.22 (n)
  • 76.54 (a)
Str.17692 36
zebrafish
(Danio rerio)
Actinopterygii apc 36
  • 66.85 (n)
  • 70.8 (a)
apc 37
  • 68 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Apc 37
  • 21 (a)
ManyToMany
Apc2 37
  • 34 (a)
ManyToMany
Apc 38
  • 54 (a)
Apc2 38
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea apr-1 37
  • 22 (a)
OneToMany
Species with no ortholog for APC:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for APC Gene

ENSEMBL:
Gene Tree for APC (if available)
TreeFam:
Gene Tree for APC (if available)

Paralogs for APC Gene

Paralogs for APC Gene

genes like me logo Genes that share paralogs with APC: view

Variants for APC Gene

Sequence variations from dbSNP and Humsavar for APC Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs1914 other 112,808,747(-) CAAAA(A/T)CTAGA intron-variant
rs12189 other 112,844,560(+) TGAGT(C/T)CATCT utr-variant-3-prime
rs41115 other 112,840,073(-) CTTTC(C/T)GTGGC synonymous-codon, reference
rs41116 other 112,845,224(+) TTTAA(C/T)ATTTT utr-variant-3-prime
rs42427 other 112,840,628(+) GGAGG(A/G)GCACA synonymous-codon, reference

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

Variant ID Type Subtype PubMed ID
nsv830450 CNV Gain 17160897
nsv462387 CNV Loss 19166990
nsv4959 CNV Insertion 18451855

Relevant External Links for APC Gene

HapMap Linkage Disequilibrium report
APC
Human Gene Mutation Database (HGMD)
APC
Locus Specific Mutation Databases (LSDB)
APC

Disorders for APC Gene

(5) OMIM Diseases for APC Gene (611731)

UniProtKB/Swiss-Prot

APC_HUMAN
  • Familial adenomatous polyposis (FAP) [MIM:175100]: A cancer predisposition syndrome characterized by adenomatous polyps of the colon and rectum, but also of upper gastrointestinal tract (ampullary, duodenal and gastric adenomas). This is a viciously premalignant disease with one or more polyps progressing through dysplasia to malignancy in untreated gene carriers with a median age at diagnosis of 40 years. {ECO:0000269 PubMed:10470088, ECO:0000269 PubMed:1338691, ECO:0000269 PubMed:1338764, ECO:0000269 PubMed:1338904, ECO:0000269 PubMed:1651563, ECO:0000269 PubMed:7833149, ECO:0000269 PubMed:7833931, ECO:0000269 PubMed:8990002}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hereditary desmoid disease (HDD) [MIM:135290]: Autosomal dominant trait with 100% penetrance and possible variable expression among affected relatives. HDD patients show multifocal fibromatosis of the paraspinal muscles, breast, occiput, arms, lower ribs, abdominal wall, and mesentery. Desmoid tumors appears also as a complication of familial adenomatous polyposis. {ECO:0000269 PubMed:10782927, ECO:0000269 PubMed:8940264}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Medulloblastoma (MDB) [MIM:155255]: Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. {ECO:0000269 PubMed:10666372}. Note=The gene represented in this entry may be involved in disease pathogenesis.
  • Mismatch repair cancer syndrome (MMRCS) [MIM:276300]: An autosomal recessive, rare, childhood cancer predisposition syndrome encompassing a broad tumor spectrum. This includes hematological malignancies, central nervous system tumors, Lynch syndrome-associated malignancies such as colorectal tumors as well as multiple intestinal polyps, embryonic tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature reminiscent of neurofibromatosis type 1, are often found as first manifestation of the underlying cancer. Areas of skin hypopigmentation have also been reported in MMRCS patients. {ECO:0000269 PubMed:7661930}. Note=The gene represented in this entry may be involved in disease pathogenesis.
  • Gastric cancer (GASC) [MIM:613659]: A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease. Note=The gene represented in this entry may be involved in disease pathogenesis.
  • Hepatocellular carcinoma (HCC) [MIM:114550]: A primary malignant neoplasm of epithelial liver cells. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. Note=The gene represented in this entry may be involved in disease pathogenesis.

(95) Novoseek inferred disease relationships for APC Gene

Disease -log(P) Hits PubMed IDs
familial adenomatous polyposis 96.7 171
polyposis 89.7 79
colorectal cancer 85.6 153
adenoma 85.1 172
colorectal tumors 83.1 42

Relevant External Links for APC

GeneTests
APC
GeneReviews
APC
Genetic Association Database (GAD)
APC
Human Genome Epidemiology (HuGE) Navigator
APC
Tumor Gene Database (TGDB):
APC
genes like me logo Genes that share disorders with APC: view

Publications for APC Gene

  1. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. (PMID: 1651563) Nishisho I. … Vogelstein B. (Science 1991) 2 3 4 23
  2. The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. (PMID: 9724771) Frayling I.M. … Tomlinson I.P.M. (Proc. Natl. Acad. Sci. U.S.A. 1998) 3 4 23 49
  3. A germline mutation at the extreme 3' end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor. (PMID: 10782927) Couture J. … Bapat B. (Clin. Genet. 2000) 3 4 23 49
  4. Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism. (PMID: 9973276) Gryfe R. … Redston M. (Am. J. Hum. Genet. 1999) 3 4 23
  5. APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews. (PMID: 11159880) Stern H.S. … Lagarde A.E. (Gastroenterology 2001) 3 23 49

Products for APC Gene

  • Addgene plasmids for APC

Sources for APC Gene

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