APC Gene
protein-coding GIFtS : 73
GCID: GC05 P112101
adenomatous polyposis coli (Previous name: adenomatosis polyposis coli )
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Aliasesfor APC gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Adenomatous Polyposis Coli 1 2 GS2 5 DP2.51 2 3 Adenomatosis Polyposis Coli1 DP21 2 Adenomatosis Polyposis Coli Tumor Suppressor2 DP31 2 Adenomatous Polyposis Coli Protein2 PPP1R461 2 Protein Phosphatase 1, Regulatory Subunit 462 Deleted In Polyposis 2.52 3 Protein APC3 BTPS22 5 FPC5
Export aliases for APC gene to outside databases Previous GC identifers: GC05P111687 GC05P112537 GC05P112074 GC05P112149 GC05P107222
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Summariesfor APC gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for APC : 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) UniProtKB/Swiss-Prot: APC_HUMAN, P25054 Function : Tumor suppressor. Promotes rapid degradation of CTNNB1 and participates in Wnt signaling as a negativeregulator. 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 (Adenomatous polyposis coli)
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Genomic Viewsfor APC gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000005.9 NC_018916.1 NT_034772.6 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the APC gene promoter: TBP STAT5B Spz1 NF-1 NF-1/L C/EBPbeta MyoD TFIID Other transcription factors Search SABiosciences Chromatin IP Primers for APC Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat APC
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 5q21-q22 Ensembl cytogenetic band: 5q22.2 HGNC cytogenetic band: 5q21-q22 APC Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 5 GeneLoc Exon Structure
GeneLoc location for GC05P112101: view genomic region
(about GC identifiers )
Start:
112,043,195 bp from pter
End:
112,181,936 bp from pter
Size:
138,742 bases
Orientation:
plus strand
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Proteinsfor APC gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: APC_HUMAN, P25054 (See
protein sequence )Recommended Name: Adenomatous polyposis coli protein Size : 2843 amino acids; 311646 Da
Subunit : Forms homooligomers and heterooligomers with APC2. Interacts with DIAPH1 and DIAPH2 (By similarity). Interactswith 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)
Subcellular location : Cell junction, adherens junction. Cytoplasm, cytoskeleton. Cell projection, lamellipodium. Cellprojection, 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
Miscellaneous : APC mutations have led to some interesting observations. (1) the great majority of the mutations foundto 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
6/17 PDB 3D structures from and Proteopedia for APC (see all 17 ):1DEB (3D)
  1EMU (3D)
  1JPP (3D)
  1M5I (3D)
  1T08 (3D)
  1TH1 (3D)
 
Secondary accessions : D3DT03 Q15162 Q15163 Q93042Alternative splicing : 2 isoforms : P25054-1 P25054-2 Explore the universe of human proteins at neXtProt for APC: NX_P25054 Post-translational modifications:
Phosphorylated by GSK3B1
Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is facilitated by Axin. Deubiquitinated by ZRANB1/TRABID1
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P25054 APC Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins (3 alternative transcripts):
NP_000029.2 NP_001120982.1 NP_001120983.2 ENSEMBL proteins: ENSP00000426541 ENSP00000423224 ENSP00000424265 ENSP00000257430 ENSP00000427089 ENSP00000423828 ENSP00000413133 Reactome Protein details: P25054 Human Recombinant Protein Products for APC: Gene Ontology (GO): 5/23 cellular component terms (GO ID links to tree view) (see all 23 ): About this table
APC for ontologies About GeneDecksing APC Antibody Products: EMD Millipore Mono- and Polyclonal Antibodies for the study of APC R&D Systems Antibodies for APC Cell Signaling Technology (CST) Antibodies for APC   OriGene Antibodies: APC OriGene Custom Antibody Services for APC GenScript Superior Antibodies for APC Novus Biologicals APC Antibodies Abcam antibodies for APC Uscn Antibodies for APC ThermoFisher Antibodies for APC
Assay Products for APC:
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Protein
Domains / Familiesfor APC gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
APC for domains About GeneDecksing 5/11 InterPro domains/families (see all 11 ):
Graphical View of Domain Structure for InterPro Entry P25054 ProtoNet protein and cluster: P25054
1 Blocks protein family : IPB000225 Armadillo repeat UniProtKB/Swiss-Prot: APC_HUMAN, P25054 Domain : The microtubule tip localization signal (MtLS) motif; mediates interaction with MAPRE1 and targeting to thegrowing microtubule plus ends (By similarity) Similarity : Belongs to the adenomatous polyposis coli (APC) familySimilarity : Contains 7 ARM repeats
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Functionfor APC gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory ,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase ,
shRNA from
OriGene ,
Sirion Biotech ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Sirion Biotech ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
Sirion Biotech ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Molecular Function: UniProtKB/Swiss-Prot Summary: APC_HUMAN, P25054 Function : Tumor suppressor. Promotes rapid degradation of CTNNB1 and participates in Wnt signaling as a negativeregulator. 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
Genatlas biochemistry entry for APC : 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 Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8 ): About this table
APC for ontologies About GeneDecksing Phenotypes: 3 GenomeRNAi human phenotypes for APC : 15/27 MGI mutant phenotypes (inferred from 25 alleles ) (MGI details for Apc) (see all 27 ):
APC for phenotypes About GeneDecksing Animal Models: Mouse knock-outs for APC: Apc tm1.1Tyj Apc tm4Mmt Apc tm1Cip Apc tm1Rak Apc tm1.1Tno Apc tm1Mmt Apc tm1Hsa Apc tm1.1Ecrm Apc tm2.1Rak Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for APC (see all 5 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for APC (see all 3 )OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 3 ): APC (NM_001127510 ) Sino Biological Human cDNA Clone for APC DNA2.0 Custom Codon Optimized Gene
Synthesis Service for APC Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat APC
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APC
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Pathways & Interactionsfor APC gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/29 super-pathways (see all 29 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Wnt Signaling Pathway 2 Ubiquitinated Orc1 is degraded by the proteasome 3 Apoptotic cleavage of cellular proteins 4 Integrated Pancreatic Cancer Pathway 5 Nanog in Mammalian ESC Pluripotency
Pathway sources See GeneCards unified pathways Show all pathways 1 EMD Millipore Pathway for APC 1 R&D Systems Pathway for APC 5/11 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for APC (see all 11 )1
Cell Signaling Technology (CST) Pathway for APC 5/15 BioSystems Pathways for APC (see all 15 ) 5/8
Reactome Pathways for APC (see all 8 )5/6
Kegg Pathways (Kegg details for APC) (see all 6 ):
APC for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for APC STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/469 Interacting proteins for APC (P25054 1 , 2 , 3 ENSP00000257430 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 469 )Interactant Interaction Details GeneCard External ID(s) CTNNB1 P35222 1 , 2 , 3 , ENSP00000344456 4 EBI-727707,EBI-491549 MINT-4508229 I2D:
score=8 STRING: ENSP00000344456 DVL1 O14640 2 , 3 , ENSP00000368169 4 MINT-7897032 MINT-7897055 MINT-7897075 MINT-7897100 I2D:
score=1 STRING: ENSP00000368169 DVL2 O14641 2 , 3 , ENSP00000005340 4 MINT-7890898 MINT-7897032 MINT-7897075 I2D:
score=2 STRING: ENSP00000005340 PXN P49023 2 , 3 , ENSP00000228307 4 MINT-7891130 MINT-7897100 I2D:
score=2 STRING: ENSP00000228307 MAPRE1 Q15691 1 , 3 , ENSP00000364721 4 EBI-727707,EBI-1004115 I2D:
score=5 STRING: ENSP00000364721
About this table Gene Ontology (GO): 5/63 biological process terms (GO ID links to tree view) (see all 63 ): About this table
APC for ontologies About GeneDecksing
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Drugs & Compoundsfor APC gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
APC for compounds About GeneDecksing Browse Tocris compounds for APC 88 Novoseek chemical compound relationships for APC gene (see top 10 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
af/ap
80.5
4
10494086 (2), 11786778 (1), 15623495 (1)
crcs
74.3
10
11270422 (1), 17704924 (1), 11751382 (1), 14578138 (1) (see all 8 )
sulindac
60.9
8
11535846 (3), 12663524 (2), 19755659 (1), 8707116 (1)
phip
60.7
17
19628463 (2), 9202752 (2), 11181456 (2), 9202738 (1) (see all 11 )
glycogen
59.9
144
19339242 (9), 9003374 (5), 10233043 (5), 12829248 (5) (see all 55 )
pphp
48.9
2
1621772 (1)
1-hydroxyanthraquinone
48
3
9433483 (2), 10204808 (1)
samp
47.7
3
10346819 (1), 10021369 (1), 10966653 (1)
5-aza-2'deoxycytidine
46.1
5
17065059 (1), 15087381 (1), 15225415 (1), 18058533 (1) (see all 5 )
adenylate
38.1
15
2167212 (1), 10421220 (1), 1637317 (1), 8131796 (1) (see all 15 )
mononucleotide
37.2
3
9679946 (1), 16336454 (1), 10607839 (1)
guanine
36.3
9
10914632 (1), 15681617 (1), 8781372 (1), 19628463 (1) (see all 8 )
2-amino-3-methylimidazo(4,5-f)quinoline
35.9
1
12669311 (1)
methylazoxymethanol acetate
34.2
2
9433483 (1), 10204808 (1)
exisulind
32.6
1
12642683 (1)
cytosine
29.6
3
8111410 (1), 9096643 (1), 11135372 (1)
sodium bisulfite
28.6
2
15342451 (1), 17369979 (1)
meiq
28.2
3
12893427 (2)
o6-methylguanine
25.5
1
19164452 (1)
nocodazole
24.2
3
17705289 (1), 8033082 (1), 8602842 (1)
azoxymethane
23.1
6
9450492 (2), 19727435 (1)
celecoxib
21.6
3
17342335 (1), 17275129 (1)
glucose 6-phosphate
21.1
25
10233043 (5), 12829248 (2), 16115820 (2), 8514849 (1) (see all 9 )
1,2-dimethylhydrazine
20.4
1
12669311 (1)
mnng
18
2
14728717 (2)
8-oxoguanine
17.1
1
16719202 (1)
5-methylcytosine
16.8
2
12154064 (1), 11751682 (1)
cyclic amp
15.8
9
10914632 (1), 8072545 (1), 7702566 (1), 8769404 (1) (see all 7 )
gtp
12.4
5
19189654 (1), 1647485 (1), 1379045 (1), 8383439 (1)
adenine
12
1
1355210 (1)
serine
11.6
9
11487578 (1), 11738041 (1), 11809746 (1), 16882987 (1) (see all 7 )
forskolin
9.57
2
7532667 (1), 1280118 (1)
phosphoserine
8.43
1
11738041 (1)
threonine
5.11
3
16882987 (1), 8602842 (1), 9927029 (1)
udpglucose
4.79
4
15647256 (2), 8787686 (1), 12864735 (1)
indomethacin
4.69
2
15963497 (2)
nmda
3.79
1
15121761 (1)
testosterone
3.18
5
8072545 (2), 15790394 (2)
heparin
3.02
4
8104182 (1)
polyacrylamide
2.72
3
11485029 (1), 9382065 (1), 7700219 (1)
norepinephrine
1.37
1
17642146 (1)
sodium
0.983
1
17642146 (1)
dopamine
0.85
1
16123742 (1)
hydrogen
0.474
1
8865363 (1)
paraffin
0.399
5
9196441 (1), 11211307 (1), 10714203 (1), 15754020 (1) (see all 5 )
lipid
0.247
5
15833942 (1), 18224335 (1)
magnesium
0
1
1637317 (1)
7,12-dimethylbenz(a)anthracene
0
2
16150893 (1)
oligonucleotide
0
3
1647485 (1), 1699758 (1)
wortmannin
0
1
9003374 (1)
pyruvate
0
2
8476039 (1), 15310747 (1)
lithium
0
2
12950267 (1), 10347231 (1)
guanosine
0
2
9398737 (1), 8648511 (1)
mspi
0
2
9919757 (2)
linoleic acid
0
2
17636402 (2)
lysophosphatidylcholine
0
2
8900200 (1)
phosphoinositide
0
1
8546671 (1)
cgmp
0
1
9038814 (1)
phospholipid
0
1
1849000 (1)
glucose
0
53
12829248 (4), 10916283 (3), 10081651 (3), 11872654 (3) (see all 24 )
calcium
0
6
15658617 (1), 15007354 (1), 17085788 (1), 8538212 (1) (see all 6 )
progesterone
0
1
12213737 (1)
tyrosine
0
12
10951583 (3), 8074697 (3), 19101982 (1), 19928349 (1) (see all 5 )
acth
0
3
16189167 (1), 9380281 (1)
phosphatidylinositol
0
5
10421220 (1), 15007354 (1), 11872654 (1), 17513702 (1)
gdp
0
1
1637317 (1)
fatty acid
0
3
17636402 (1), 2120241 (1), 11309309 (1)
thymine
0
1
1355210 (1)
ornithine
0
1
12447692 (1)
adp
0
3
1660629 (1), 7700219 (1)
methionine
0
1
15589597 (1)
estrogen
0
4
11016622 (1), 18286531 (1), 10344733 (1), 15543763 (1)
methylmethanesulfonate
0
1
15548520 (1)
pge2
0
2
7532667 (1), 9371732 (1)
prostacyclin
0
1
8131796 (1)
curcumin
0
3
17342335 (1), 12466962 (1)
piroxicam
0
2
9617344 (2)
folate
0
10
10590231 (4), 18029487 (2)
retinoic acid
0
3
16956712 (1), 16278393 (1), 14527906 (1)
epinephrine
0
4
11872654 (1), 12864735 (1)
cycloheximide
0
4
10339655 (3), 17360132 (1)
pertussis
0
1
15950987 (1)
salbutamol
0
1
15007354 (1)
glutamine
0
6
19101982 (1), 12447692 (1), 1702409 (1), 15471898 (1)
aspirin
0
1
9706142 (1)
vitamin d
0
2
8538212 (1), 18716166 (1)
isoproterenol
0
3
12972572 (1), 7532667 (1), 8546671 (1)
rapamycin
0
4
9003374 (2), 9873015 (1)
Search CenterWatch for drugs/clinical trials and news about APC
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Transcriptsfor APC gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
Sirion Biotech ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for APC gene (3 alternative transcripts): NM_000038.5 NM_001127510.2 NM_001127511.2 Unigene Cluster for APC:
Adenomatous polyposis coli Hs.158932 [show with all ESTs ] Unigene Representative Sequence: NM_001127510 13 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000509732 ENST00000505350 ENST00000507379 ENST00000508624 ENST00000257430 (uc003kpz.4 uc003kpy.4 uc010jbz.3 uc010jca.3 )ENST00000508376 ENST00000512211 ENST00000506342 ENST00000502371 ENST00000504915 ENST00000505084 ENST00000514164 ENST00000457016 (uc011cvt.2 ) Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for APC (see all 5 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for APC (see all 3 )OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 3 ): APC (NM_001127510 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for APC Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat APC
Additional cDNA sequence: AB210001.1 AF038181.1 AK289567.1 AK294544.1 AK309033.1 BC034955.1 BC056268.1 M73548.1 M74088.1 S56365.1 S67787.1 S67788.1 S67789.1
15 DOTS entries : DT.99981468 DT.120809542
DT.40310104 DT.95121675 DT.99962531 DT.119384 DT.95374795 DT.120809704 DT.120809770 DT.452608 DT.449103 DT.91757887 DT.100721411 DT.432665 DT.91950191 24/445 AceView cDNA sequences (see all 445 ):
F04853 BF590515 D49676 BM723345 BU629028 F06864 BU618167 BF001542 R39002 AA829998 BG108327 AI566022 F02012 BM930344 F13412 F11337 T72565 F05691 AA344032 BX100792 BM977243 F12582 F01843 CA312933 GeneLoc Exon Structure 3 Alternative Splicing Database (ASD) splice patterns (SP) for APC About this scheme 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 :                                          
ECgene alternative splicing isoforms for APC
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Expression for APC gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section APC expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: -- About this image APC expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table
See APC Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for APC SOURCE GeneReport for Unigene cluster: Hs.158932 UniProtKB/Swiss-Prot: APC_HUMAN, P25054 Tissue specificity : Expressed in a variety of tissues SABiosciences Expression via Pathway-Focused PCR Arrays including APC (see all 15 ): Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for APCBrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat APC QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat APC QIAGEN QuantiFast Probe-based Assays in human , mouse , rat APC In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APC
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Orthologsfor APC gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for APC gene from 6/20 species (see all 20 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
APC1
adenomatous polyposis coli
80.69(n) 85.58(a)
 
415607 XM_001233410.2 XP_001233411.2
lizard (Anolis carolinensis)
Reptilia
----
--
95(a) 83(a)
1 ↔ many1 ↔ many
GL343193.1(6920773-6928072) GL343193.1(6928765-6980589)
African clawed frog (Xenopus laevis)
Amphibia
Xl.84362
Xenopus laevis adenomatous polyposis coli mRNA, complete more
78.78(n)
 
U64442.1
zebrafish (Danio rerio)
Actinopterygii
apc1
adenomatosis polyposis coli
66.81(n) 70.85(a)
 
386762 NM_001143840.1 NP_001137312.1
fruit fly (Drosophila melanogaster)
Insecta
Apc3
frizzled-2 receptor signaling pathway microtubule more
54(a) (best of 2)
 
--
worm (Caenorhabditis elegans)
Secernentea
apr-16
Adenomatous polyposis coli protein-related protein...
18(a)
possible ortholog
I(8050038-8055469)
ENSEMBL Gene Tree for APC (if available)TreeFam Gene Tree for APC (if available)
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Paralogsfor APC gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for APC gene APC2 2 ENSG00000258864 2 2 SIMAP similar genes for APC using alignment to 25 protein entries: APC_HUMAN (see all proteins ):APC variant protein APC2
APC for paralogs About GeneDecksing
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Genomic Variantsfor APC gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 5 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for APC (112043195 - 112181936 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 2 variations for APC 2 CNVs : 7468 93189 Human Gene Mutation Database (HGMD) : APC Locus Specific Mutation Databases (LSDB): APC 5/63 SABiosciences Cancer Mutation PCR Assays for APC (see all 63 ):
5/10 SABiosciences Cancer Mutation PCR Arrays containing APC (see all 10 ):
2 SABiosciences qBiomarker Copy Number PCR Arrays containing APC :
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing APC
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Disorders
/ Diseasesfor APC gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
APC for disorders About GeneDecksing OMIM gene information: 611731 OMIM disorders : 175100 613659 114550 135290 114500 UniProtKB/Swiss-Prot: APC_HUMAN, P25054
Defects in APC are a cause of familial adenomatous polyposis (FAP) [MIM:175100]; which includes also Gardner syndrome (GS). FAP and GS contribute to tumor development in patients with uninherited forms of colorectal cancer. FAP is 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 Defects in APC are a cause of hereditary desmoid disease (HDD) [MIM:135290]; also known as familial infiltrative fibromatosis (FIF). HDD is an 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 Defects in APC are a cause of medulloblastoma (MDB) [MIM:155255]. MDB is a malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. Although the majority of medulloblastomas occur sporadically, some manifest within familial cancer syndromes such as Turcot syndrome and basal cell nevus syndrome (Gorlin syndrome) Defects in APC are a cause of mismatch repair cancer syndrome (MMRCS) [MIM:276300]; also known as Turcot syndrome or brain tumor-polyposis syndrome 1 (BTPS1). MMRCS is an autosomal dominant disorder characterized by malignant tumors of the brain associated with multiple colorectal adenomas. Skin features include sebaceous cysts, hyperpigmented and cafe au lait spots Defects in APC are a cause of gastric cancer (GASC) [MIM:613659]; also called gastric cancer intestinal or stomach cancer. Gastric cancer is 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 Defects in APC are a cause of hepatocellular carcinoma (HCC) [MIM:114550]. This defect includes also the disease entity termed hepatoblastoma 20/178 diseases for APC (see all 178 ): About MalaCards polyposis adenomatous polyposis coli familial adenomatous polyposis cafe-au-lait spots fourth cranial nerve palsy apc-associated polyposis conditions cranial nerve palsy peutz-jeghers syndrome adenoma, periampullary, somatic mutyh-associated polyposis attenuated familial adenomatous polyposis alveolar soft part sarcoma albright's hereditary osteodystrophy pseudohypoparathyroidism type ia brain tumor-polyposis syndrome 2 pseudomyxoma peritonei desmoid disease, hereditary mccune albright syndrome gardner syndrome brachydactyly type e 3 diseases from the University of Copenhagen DISEASES database for APC :Familial adenomatous polyposis Colorectal cancer Adenoma 10/95 Novoseek disease relationships for APC gene (see all 95 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
familial adenomatous polyposis
96.7
454
15793634 (4), 8835324 (4), 15540296 (4), 11786778 (3) (see all 99 )
polyposis
89.7
92
17568392 (6), 11867715 (4), 15761860 (3), 11868006 (2) (see all 58 )
colorectal cancer
85.6
236
8835324 (6), 15375009 (5), 11211307 (4), 11135372 (4) (see all 99 )
adenoma
85.1
218
8012980 (6), 12673484 (6), 12163385 (6), 10440612 (5) (see all 99 )
colorectal tumors
83.1
44
10737795 (3), 10921028 (3), 10493496 (2), 9724771 (2) (see all 35 )
microsatellite instability
83.1
54
9924427 (2), 11819821 (2), 12378616 (2), 11107173 (2) (see all 47 )
desmoid tumor
81.7
59
15793634 (6), 18646694 (3), 18854359 (3), 10782927 (3) (see all 24 )
turcot syndrome
81.1
14
7515658 (2), 7662026 (1), 9641305 (1), 11005140 (1) (see all 10 )
adenomatous polyps
79.4
11
14502807 (2), 7559732 (1), 12833148 (1), 14578138 (1) (see all 10 )
germ-line mutation
78.5
41
11867715 (3), 1316610 (2), 15857185 (2), 11754114 (2) (see all 32 )
GeneTests: APC APC-Associated Polyposis Conditions Genetic Association Database (GAD): APC Human Genome Epidemiology (HuGE) Navigator: APC (236 documents) Tumor Gene Database (TGDB) : APC Export disorders for APC gene to outside databases
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Publicationsfor APC gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for APC gene, integrated from 9 sources (see all 1575 ): (articles sorted by number of sources associating them with APC) Utopia : connect your pdf to the dynamic world of online information
The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. (PubMed id 9724771) 1 , 2 , 4, 9 Frayling I.M.... Tomlinson I.P.M. (1998) 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. (PubMed id 10782927) 1 , 2 , 4, 9 Couture J.... Bapat B. (2000) Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. (PubMed id 1651563) 1 , 2 , 3, 9 Nishisho I....Hedge P. (1991) [The I1307K mutation and protein expression of APC gene in gastric cancer] (PubMed id 15639864) 1 , 4, 9 Sun X.J....Sun K.L. (2003) APC gene loss of heterozygosity, mutations, E1317Q, and I1307K germ-line variants in sporadic colon cancer in Croatia. (PubMed id 15507235) 1 , 4, 9 Kapitanovic S....Pavelic K. (2004) APC genotype is not a prognostic factor in familial adenomatous polyposis patients with colorectal cancer. (PubMed id 15540296) 1 , 4, 9 Bertario L....Radice P. (2004) Mutations of the APC (adenomatous polyposis coli) gene. (PubMed id 8111410) 1 , 2 , 9 Nagase H. and Nakamura Y. (1993) Mutations in APC, CTNNB1 and K-ras genes and expression of hMLH1 in sporadic colorectal carcinomas from the Netherlands Cohort Study. (PubMed id 16356174) 1 , 4, 9 Luchtenborg M....de Goeij A.F. (2005) Identification of FAP locus genes from chromosome 5q21. (PubMed id 1651562) 1 , 2 , 9 Kinzler K.W.... Nakamura Y. (1991) Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations. (PubMed id 15761860) 1 , 4, 9 Kairupan C.F....Scott R.J. (2005)
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External Searches for APC gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing APC gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing APC gene
(According to HUGE )
About This Section --
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Specialized Databases showing APC gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description
PharmGKB entry for APC Pharmacogenomics, SNPs, Pathways ATLAS Chromosomes in Cancer entry for APC Genetics and Cytogenetics in Oncology and Haematology GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/APC SHMPD http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=APC Wikipedia http://en.wikipedia.org/wiki/APC_%28gene%29
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About This Section Patent Information for APC gene: Search GeneIP for patents involving APC GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor APC gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 and Sirion Biotech , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript , LifeMap BioReagents , and Sirion Biotech , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences , In Situ Hybridization Assays from Advanced Cell Diagnostics , Animal models from inGenious Targeting Laboratory )About This Section
OriGene Antibodies for APC OriGene shRNA RFP for APC OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for APC OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for APC OriGene Protein Over-expression Lysate for APC Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for APC OriGene 3'-UTR Clone for APC OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for APC OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for APC Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for APC OriGene Custom Protein Services for APC OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat APC QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing APC QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat APC QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat APC QIAGEN QuantiFast Probe-based Assays in human , mouse , rat APC QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat APC
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APC Proteins, Antibodies, CLIAs, and ELISAs
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