• Gene id: 324

Gene Summary

• Gene Symbol: APC   Gene   UCSC   Ensembl
• Aliases: BTPS2, DESMD, DP2, DP2.5, DP3, GS, PPP1R46
• Gene name: APC regulator of WNT signaling pathway
• Alternate names: adenomatous polyposis coli protein, APC, WNT signaling pathway regulator, WNT signaling pathway regulator, adenomatosis polyposis coli tumor suppressor, adenomatous polyposis coli (APC), deleted in polyposis 2.5, epididymis secretory sperm binding protein, prote,
• Gene location: 5q22.2 (112707497: 112846238)     Exons: 8     NC_000005.10
• Gene summary(Entrez): 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 famil
• OMIM: 611731

SNPs

rs1545125

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.51083534A>G
NC_000007.13   g.51151231A>G
NG_051816.1   g.238328T>C|SEQ=[A/G]|GENE=COBL

Protein Summary

• Protein general information: P25054  
  • Name: Adenomatous polyposis coli protein (Protein APC) (Deleted in polyposis 2.5)
  • Length: 2843  
  • Mass: 311646
  • Tissue specificity: Expressed in a variety of tissues
• Sequence:

  MAAASYDQLLKQVEALKMENSNLRQELEDNSNHLTKLETEASNMKEVLKQLQGSIEDEAMASSGQIDLLERLKEL
  NLDSSNFPGVKLRSKMSLRSYGSREGSVSSRSGECSPVPMGSFPRRGFVNGSRESTGYLEELEKERSLLLADLDK
  EEKEKDWYYAQLQNLTKRIDSLPLTENFSLQTDMTRRQLEYEARQIRVAMEEQLGTCQDMEKRAQRRIARIQQIE
  KDILRIRQLLQSQATEAERSSQNKHETGSHDAERQNEGQGVGEINMATSGNGQGSTTRMDHETASVLSSSSTHSA
  PRRLTSHLGTKVEMVYSLLSMLGTHDKDDMSRTLLAMSSSQDSCISMRQSGCLPLLIQLLHGNDKDSVLLGNSRG
  SKEARARASAALHNIIHSQPDDKRGRREIRVLHLLEQIRAYCETCWEWQEAHEPGMDQDKNPMPAPVEHQICPAV
  CVLMKLSFDEEHRHAMNELGGLQAIAELLQVDCEMYGLTNDHYSITLRRYAGMALTNLTFGDVANKATLCSMKGC
  MRALVAQLKSESEDLQQVIASVLRNLSWRADVNSKKTLREVGSVKALMECALEVKKESTLKSVLSALWNLSAHCT
  ENKADICAVDGALAFLVGTLTYRSQTNTLAIIESGGGILRNVSSLIATNEDHRQILRENNCLQTLLQHLKSHSLT
  IVSNACGTLWNLSARNPKDQEALWDMGAVSMLKNLIHSKHKMIAMGSAAALRNLMANRPAKYKDANIMSPGSSLP
  SLHVRKQKALEAELDAQHLSETFDNIDNLSPKASHRSKQRHKQSLYGDYVFDTNRHDDNRSDNFNTGNMTVLSPY
  LNTTVLPSSSSSRGSLDSSRSEKDRSLERERGIGLGNYHPATENPGTSSKRGLQISTTAAQIAKVMEEVSAIHTS
  QEDRSSGSTTELHCVTDERNALRRSSAAHTHSNTYNFTKSENSNRTCSMPYAKLEYKRSSNDSLNSVSSSDGYGK
  RGQMKPSIESYSEDDESKFCSYGQYPADLAHKIHSANHMDDNDGELDTPINYSLKYSDEQLNSGRQSPSQNERWA
  RPKHIIEDEIKQSEQRQSRNQSTTYPVYTESTDDKHLKFQPHFGQQECVSPYRSRGANGSETNRVGSNHGINQNV
  SQSLCQEDDYEDDKPTNYSERYSEEEQHEEEERPTNYSIKYNEEKRHVDQPIDYSLKYATDIPSSQKQSFSFSKS
  SSGQSSKTEHMSSSSENTSTPSSNAKRQNQLHPSSAQSRSGQPQKAATCKVSSINQETIQTYCVEDTPICFSRCS
  SLSSLSSAEDEIGCNQTTQEADSANTLQIAEIKEKIGTRSAEDPVSEVPAVSQHPRTKSSRLQGSSLSSESARHK
  AVEFSSGAKSPSKSGAQTPKSPPEHYVQETPLMFSRCTSVSSLDSFESRSIASSVQSEPCSGMVSGIISPSDLPD
  SPGQTMPPSRSKTPPPPPQTAQTKREVPKNKAPTAEKRESGPKQAAVNAAVQRVQVLPDADTLLHFATESTPDGF
  SCSSSLSALSLDEPFIQKDVELRIMPPVQENDNGNETESEQPKESNENQEKEAEKTIDSEKDLLDDSDDDDIEIL
  EECIISAMPTKSSRKAKKPAQTASKLPPPVARKPSQLPVYKLLPSQNRLQPQKHVSFTPGDDMPRVYCVEGTPIN
  FSTATSLSDLTIESPPNELAAGEGVRGGAQSGEFEKRDTIPTEGRSTDEAQGGKTSSVTIPELDDNKAEEGDILA
  ECINSAMPKGKSHKPFRVKKIMDQVQQASASSSAPNKNQLDGKKKKPTSPVKPIPQNTEYRTRVRKNADSKNNLN
  AERVFSDNKDSKKQNLKNNSKVFNDKLPNNEDRVRGSFAFDSPHHYTPIEGTPYCFSRNDSLSSLDFDDDDVDLS
  REKAELRKAKENKESEAKVTSHTELTSNQQSANKTQAIAKQPINRGQPKPILQKQSTFPQSSKDIPDRGAATDEK
  LQNFAIENTPVCFSHNSSLSSLSDIDQENNNKENEPIKETEPPDSQGEPSKPQASGYAPKSFHVEDTPVCFSRNS
  SLSSLSIDSEDDLLQECISSAMPKKKKPSRLKGDNEKHSPRNMGGILGEDLTLDLKDIQRPDSEHGLSPDSENFD
  WKAIQEGANSIVSSLHQAAAAACLSRQASSDSDSILSLKSGISLGSPFHLTPDQEEKPFTSNKGPRILKPGEKST
  LETKKIESESKGIKGGKKVYKSLITGKVRSNSEISGQMKQPLQANMPSISRGRTMIHIPGVRNSSSSTSPVSKKG
  PPLKTPASKSPSEGQTATTSPRGAKPSVKSELSPVARQTSQIGGSSKAPSRSGSRDSTPSRPAQQPLSRPIQSPG
  RNSISPGRNGISPPNKLSQLPRTSSPSTASTKSSGSGKMSYTSPGRQMSQQNLTKQTGLSKNASSIPRSESASKG
  LNQMNNGNGANKKVELSRMSSTKSSGSESDRSERPVLVRQSTFIKEAPSPTLRRKLEESASFESLSPSSRPASPT
  RSQAQTPVLSPSLPDMSLSTHSSVQAGGWRKLPPNLSPTIEYNDGRPAKRHDIARSHSESPSRLPINRSGTWKRE
  HSKHSSSLPRVSTWRRTGSSSSILSASSESSEKAKSEDEKHVNSISGTKQSKENQVSAKGTWRKIKENEFSPTNS
  TSQTVSSGATNGAESKTLIYQMAPAVSKTEDVWVRIEDCPINNPRSGRSPTGNTPPVIDSVSEKANPNIKDSKDN
  QAKQNVGNGSVPMRTVGLENRLNSFIQVDAPDQKGTEIKPGQNNPVPVSETNESSIVERTPFSSSSSSKHSSPSG
  TVAARVTPFNYNPSPRKSSADSTSARPSQIPTPVNNNTKKRDSKTDSTESSGTQSPKRHSGSYLVTSV

• Structural information:
  • Interpro: IPR026836  IPR009240  IPR009234  IPR026831  IPR026818   IPR032038  IPR036149  IPR041257  IPR009223  IPR011989  IPR016024  IPR000225  IPR009232  IPR009224  
  • Prosite: PS50176
  • PDB: 1DEB 1EMU 1JPP 1M5I 1T08 1TH1 1V18 2RQU 3AU3 3NMW 3NMX 3NMZ 3QHE 3RL7 3RL8 3T7U 4G69 4YJE 4YJL 4YK6 5B6G 5IZ6 5IZ8 5IZ9 5IZA 5Z8H
  • PDBsum: 1DEB 1EMU 1JPP 1M5I 1T08 1TH1 1V18 2RQU 3AU3 3NMW 3NMX 3NMZ 3QHE 3RL7 3RL8 3T7U 4G69 4YJE 4YJL 4YK6 5B6G 5IZ6 5IZ8 5IZ9 5IZA 5Z8H
  • DIP: 33556
  • STRING: ENSP00000257430
• Other Databases: GeneCards:  APC  Malacards:  APC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990909	Wnt signalosome	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016342	catenin complex	IDA	cellular component
GO:0045732	positive regulation of protein catabolic process	IBA	biological process
GO:0016477	cell migration	IBA	biological process
GO:0008013	beta-catenin binding	IBA	molecular function
GO:0090090	negative regulation of canonical Wnt signaling pathway	IBA	biological process
GO:0045595	regulation of cell differentiation	IBA	biological process
GO:0045295	gamma-catenin binding	IBA	molecular function
GO:0030877	beta-catenin destruction complex	IBA	cellular component
GO:0007389	pattern specification process	IBA	biological process
GO:0007026	negative regulation of microtubule depolymerization	IBA	biological process
GO:0005881	cytoplasmic microtubule	IBA	colocalizes with
GO:0001708	cell fate specification	IBA	biological process
GO:0032587	ruffle membrane	IDA	cellular component
GO:0005912	adherens junction	IDA	colocalizes with
GO:0051010	microtubule plus-end binding	IDA	molecular function
GO:0030027	lamellipodium	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0016477	cell migration	IMP	biological process
GO:0032886	regulation of microtubule-based process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007050	cell cycle arrest	IEA	biological process
GO:0008013	beta-catenin binding	IEA	molecular function
GO:0008017	microtubule binding	IEA	molecular function
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0016477	cell migration	IEA	biological process
GO:0000281	mitotic cytokinesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0007026	negative regulation of microtubule depolymerization	IEA	biological process
GO:0030178	negative regulation of Wnt signaling pathway	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0031625	ubiquitin protein ligase binding	IDA	molecular function
GO:0016328	lateral plasma membrane	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0051988	regulation of attachment of spindle microtubules to kinetochore	IMP	biological process
GO:0045732	positive regulation of protein catabolic process	IGI	biological process
GO:0045732	positive regulation of protein catabolic process	IGI	biological process
GO:0030335	positive regulation of cell migration	IMP	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IGI	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IGI	biological process
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0031274	positive regulation of pseudopodium assembly	IMP	biological process
GO:0007094	mitotic spindle assembly checkpoint	IMP	biological process
GO:0007026	negative regulation of microtubule depolymerization	IMP	biological process
GO:0000281	mitotic cytokinesis	IMP	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IGI	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	NAS	biological process
GO:0016579	protein deubiquitination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0016055	Wnt signaling pathway	TAS	biological process
GO:1904885	beta-catenin destruction complex assembly	TAS	biological process
GO:1904886	beta-catenin destruction complex disassembly	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008013	beta-catenin binding	IDA	molecular function
GO:0045296	cadherin binding	IDA	NOT|molecular function
GO:0008013	beta-catenin binding	IPI	molecular function
GO:0008013	beta-catenin binding	IPI	molecular function
GO:0045295	gamma-catenin binding	IPI	molecular function
GO:0045732	positive regulation of protein catabolic process	IC	biological process
GO:0005886	plasma membrane	IDA	colocalizes with
GO:0030877	beta-catenin destruction complex	IDA	cellular component
GO:0030877	beta-catenin destruction complex	IDA	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0032587	ruffle membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process
GO:1904781	positive regulation of protein localization to centrosome	IMP	biological process
GO:0008286	insulin receptor signaling pathway	IMP	biological process
GO:0008013	beta-catenin binding	IPI	molecular function
GO:0010942	positive regulation of cell death	IMP	biological process
GO:0005874	microtubule	IDA	colocalizes with
GO:0070840	dynein complex binding	IPI	molecular function
GO:0019887	protein kinase regulator activity	IDA	molecular function
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0005923	bicellular tight junction	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0000776	kinetochore	IDA	cellular component
GO:0090090	negative regulation of canonical Wnt signaling pathway	IC	biological process
GO:0030877	beta-catenin destruction complex	IDA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0065003	protein-containing complex assembly	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0045736	negative regulation of cyclin-dependent protein serine/threonine kinase activity	IDA	biological process
GO:0008017	microtubule binding	IDA	molecular function
GO:0008017	microtubule binding	IDA	molecular function
GO:0007050	cell cycle arrest	IDA	biological process
GO:0030877	beta-catenin destruction complex	IDA	cellular component
GO:0007026	negative regulation of microtubule depolymerization	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0051988	regulation of attachment of spindle microtubules to kinetochore	NAS	biological process
GO:0008013	beta-catenin binding	IPI	molecular function
GO:0008013	beta-catenin binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0007155	cell adhesion	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070830	bicellular tight junction assembly	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05010	Alzheimer disease
hsa05165	Human papillomavirus infection
hsa05206	MicroRNAs in cancer
hsa04810	Regulation of actin cytoskeleton
hsa04310	Wnt signaling pathway
hsa04390	Hippo signaling pathway
hsa05225	Hepatocellular carcinoma
hsa04934	Cushing syndrome
hsa05226	Gastric cancer
hsa04550	Signaling pathways regulating pluripotency of stem cells
hsa05224	Breast cancer
hsa05210	Colorectal cancer
hsa05217	Basal cell carcinoma
hsa05213	Endometrial cancer

Diseases

Associated diseases	References
Cushing syndrome	KEGG:H01431
Medulloblastoma	KEGG:H01667
Gastric cancer	KEGG:H00018
Bilateral macronodular adrenal hyperplasia	KEGG:H02049
Gallbladder cancer	KEGG:H00047
Esophageal cancer	KEGG:H00017
Cancer of the anal canal	KEGG:H00044
Familial adenomatous polyposis	KEGG:H01025
Hepatoblastoma	KEGG:H02302
Cushing syndrome	KEGG:H01431
Medulloblastoma	KEGG:H01667
Gastric cancer	KEGG:H00018
Bilateral macronodular adrenal hyperplasia	KEGG:H02049
Gallbladder cancer	KEGG:H00047
Esophageal cancer	KEGG:H00017
Cancer of the anal canal	KEGG:H00044
Familial adenomatous polyposis	KEGG:H01025
Hepatoblastoma	KEGG:H02302
medulloblastoma	PMID:17238184
Alzheimer's disease	PMID:11547943
Endometrial cancer	PMID:15951972
Endometrial cancer	PMID:22907428
Endometrial cancer	PMID:29876005
pancreatic cancer	PMID:1423316
Transitional cell carcinoma	PMID:21599969
Endometrial carcinoma	PMID:19900189
Adenocarcinoma	PMID:11677205
Acinar cell carcinoma	PMID:11891193
renal cell carcinoma	PMID:10426194
renal cell carcinoma	PMID:15203750
cholangiocarcinoma	PMID:15467712
cholangiocarcinoma	PMID:10212000
Adenoma	PMID:11677205
hepatocellular carcinoma	PMID:28203651
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881