Search results:


General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
APC 324 Adenomatosis polyposis coli  5GS; DP2; DP3; BTPS2; DP2.5; PPP1R46 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
23255887   2012Cell line : -

Source : Department of Surgery, Ryhov County Hospital, Sweden and the Department of Pathology, National Cancer Hospital (Tamhiep, Hanoi, Vietnam).

Sample Type : CRC tumor and Normal tissue

No. of Sample : 101

Stage : TNM Stage I-IV

Methylation specific PCR and CpG island analysisMethylation-Hypermethylation of the APC and IGFBP7 gene promoter region in cancerous and normal tissue may be a prognostic factor in CRC patients.

23085758   2012Cell line : -

Source : Royal Melbourne Hospital, Western Hospital Footscray, Prince of Wales Hospital Sydney, and Royal Adelaide Hospital, Australia.

Sample Type : CRC tumor and Normal tissue

No. of Sample : 630

Stage : TNM Stage I-IV

Sanger sequencing, SNP microarray,Microsatellite instability analysis and ImmunohistochemistryMutation-Truncating APC mutations and/orLoss of Heterozygocity (LOH) were detected in 75% of CRCs. Most truncating mutations occurred within a mutation cluster region (MCR; codons 1282 -1581) leaving 1-3 intact 20 amino-acid repeats (20AARs) and abolishing all Ser-Ala-Met-Pro (SAMP) repeats.

23159591   2013Cell line : -

Source : -

Sample Type : -

No. of Sample : 1421 CRC Case

Stage : -

Mutation analysis, multiplex ligation-dependent probe amplification, Mutation-Of the 431 pathogenic or likely pathogenic mutations, frameshift, nonsense, splice site, and large deletion or duplication mutations represented 43%, 42%, 9%, and 6% of cases, respectively.

Gene deletion or duplication analysis was performed in 1421 cases by multiplex ligation-dependent probe amplification.

23168910   2012Cell line : -

Source : -

Sample Type : -

No. of Sample : -

Stage : -

Comparative analysis of early and late-onset CRCMutation-APC mutation induced deregulated Wnt signaling.

This study revealed the possible existence of non-canonical tumorigenesis pathways in early-onset CRC in India.

23244118   2012Cell line : -

Source : Chulalongkorn King Memorial Hospital

Sample Type : -

No. of Sample : -

Stage : -

Direct DNA sequencing, APC gene mutation analysisMutation-A family with attenuated familial adenomatous polyposis of APC related to exon 4 mutation, c.481C>T p.Q161X, was reported.

Familial adenomatous polyposis(FAP) is an autosomal dominant hereditary disease characterized by multiple colorectal adenomatous polyps affecting a number of cases in the family.


Gene Details



Chromosome: 5; NC_000005.9 (112043202..112181936)

View Larger Image
   
Gene Type protein coding
Gene Family Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Armadillo repeat containing
Description 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].  
Chromosome 5
Location 5q21-q22
Start 112707505  
End 112846239  
Strand +  
Gene Sequence

   Download   Select all

Length 138735  
OMIM ID 611731   
HGNC ID HGNC:583   
Unigene ID Hs.158932    
Ensembl ID ENSG00000134982   
PharmGKB ID -   

mRNA Information


mRNA ID NM_001127511.2
Exon join(1..378,58822..58906,59685..59886,68125..68233, 73286..73399,93775..93879,107991..108089,111462..111840, 114392..114487,119604..119743,120425..120502, 121352..121468,127447..127661,130049..138735)  
mRNA Sequence

   Download   Select all

Length 10814  



CDS Information


   
Location join(214..378,58822..58906,59685..59886,68125..68233, 73286..73399,93775..93879,107991..108089,111462..111840, 114392..114487,119604..119743,120425..120502, 121352..121468,127447..127661,130049..136622)
CDS Sequence

   Download   Select all

CCDS ID -



Protein Information


      
Protein IDNP_000029.2
Protein NameAdenomatosis polyposis coli
Molecular Wt. (Da)311516
Protein Sequence

   Download   Select all

Length 2843  
Uniprot IDO60503
Ensembl Protein ID ENSP00000294016  



Post-translational Modification Information (Source : HPRD)


Residue Type site
SPhosphorylation1279
SPhosphorylation1392
SPhosphorylation2054
SPhosphorylation1501
SPhosphorylation1504
SPhosphorylation1505
SPhosphorylation1507
SPhosphorylation1510
SPhosphorylation1503
SPhosphorylation722;-
SPhosphorylation2093;-
SPhosphorylation1864;-
SPhosphorylation1861;-
SPhosphorylation1863;-
SPhosphorylation2398;-
SPhosphorylation780
SPhosphorylation1042
SPhosphorylation1360
TPhosphorylation1438
SPhosphorylation2088
SPhosphorylation2096
SPhosphorylation2129
SPhosphorylation2130
SPhosphorylation2143
TPhosphorylation2151
SPhosphorylation2260
SPhosphorylation2270
SPhosphorylation2283
SPhosphorylation2464
SPhosphorylation2469
SPhosphorylation2473
SPhosphorylation2533
SPhosphorylation2535
SPhosphorylation2671
SPhosphorylation2674
TPhosphorylation2679
TPhosphorylation2676
SPhosphorylation2789
SPhosphorylation987
TPhosphorylation2266
SPhosphorylation1044
SPhosphorylation1371
SPhosphorylation2531
SPhosphorylation2537
SPhosphorylation2835
SPhosphorylation2837
SPhosphorylation2461
SPhosphorylation895
TPhosphorylation899
SPhosphorylation744
YPhosphorylation863
TPhosphorylation867
TPhosphorylation883
SPhosphorylation2239
SPhosphorylation2241
SPhosphorylation2799
YPhosphorylation2838
SPhosphorylation2621
YPhosphorylation316

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

                                                                                                         
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
1487CTBP14015NP_001319.1in vitro;in vivo15525529   
1499CTNNB1286NP_001895.1in vitro;in vivo120   007   909   482   734   000   000   000   000   000   000   000   000   000   000   000   000   000   
2932GSK3B5418NP_002084.2in vitro863   812   611   166   179   
3728JUP1414NP_002221.1in vitro11   707   392   113   485   900   000   000   000   000   000   000   000   
5515PPP2CA8912NP_002706.1in vitro10698523   
7277TUBA4A1851NP_005991.1in vitro11166179   
8826IQGAP14541NP_003861.1in vitro;in vivo15572129   


Pathway Information


                                                            
Pathway Name Pathway ID
Basal cell carcinoma hsa05217
Colorectal cancer hsa05210
Endometrial cancer hsa05213
Hippo signaling pathway hsa04390
HTLV-I infection hsa05166
MicroRNAs in cancer hsa05206
Pathways in cancer hsa05200
Regulation of actin cytoskeleton hsa04810
Signaling pathways regulating pluripotency of stem cells hsa04550
Wnt signaling pathway hsa04310


Structure Information


PDB ID1DEB
Resolution2.4
MethodX-RAY DIFFRACTION�
Chains A,B  
Molecule ADENOMATOUS POLYPOSIS COLI PROTEIN  
Model View



Domain Information




ID Location Description
cd00020611-731  ARM
cl22454611-731  ARM superfamily
cd00020464-597  ARM
cl22454464-597  ARM superfamily
cd00020311-413  ARM
cl22454311-413  ARM superfamily
pfam059372670-2843  EB1_binding
cl054802670-2843  EB1_binding superfamily
pfam11414126-208  Suppressor_APC
cl12943126-208  Suppressor_APC superfamily
cd00020449-553  ARM
cd00020654-743  ARM
smart00185649-689  ARM
pfam00514649-689  Arm
pfam059231636-1661  APC_crr
cl054711636-1661  APC_crr superfamily
pfam059242034-2053  SAMP
cl155682034-2053  SAMP superfamily
pfam059231369-1394  APC_crr
cl054711369-1394  APC_crr superfamily
pfam059241719-1738  SAMP
cl155681719-1738  SAMP superfamily
pfam00514691-729  Arm
smart00185512-553  ARM
pfam00514512-552  Arm
pfam059562223-2568  APC_basic
PHA032472251-2564  PHA03247
PHA033072256-2401  PHA03307
PHA033072249-2544  PHA03307
pfam154022233-2386  Spc7_N
COG119614-251  Smc
pfam097862266-2396  CytochromB561_N
COG11964-272  Smc
pfam154022254-2361  Spc7_N
TIGR02169134-259  SMC_prok_A
TIGR02168120-260  SMC_prok_B
TIGR02168134-272  SMC_prok_B
PTZ004491291-1701  PTZ00449
PHA033072252-2568  PHA03307
TIGR021682-272  SMC_prok_B
PHA032472250-2540  PHA03247
COG1196134-251  Smc
pfam055392249-2398  Pneumo_att_G
COG4477Apr-85  EzrA


Ontology Information


   
HPRD ID4489
Molecular ClassAdhesion molecule
Molecular FunctionAdenylate cyclase activity (GO:0004016)
Biological ProcessCell communication (GO:0007154); Signal transduction (GO:0007165)  



SNP Information


View SNP Geneview Report   

Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO