APC: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

APC

Aliases

BTPS2, DP2, DP2.5, DP3, GS, PPP1R46

Entrez Gene ID

324

Gene Name

APC regulator of WNT signaling pathway

Chromosomal Location

5q22.2

HGNC ID

HGNC:583

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. Mutations in the APC gene have been found to occur in most colorectal cancers. 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, Dec 2019]

RefSeq DNA

NG_008481.4

RefSeq mRNA

NM_000038.6, NM_001127510.3, NM_001127511.3, NM_001354895.2, NM_001354896.2, NM_001354897.2, NM_001354898.2, NM_001354899.2, NM_001354900.2, NM_001354901.2, NM_001354902.2, NM_001354903.2, NM_001354904.2, NM_001354905.2, NM_001354906.2, NM_000038.4, NM_001127510.1, NM_001127511.1

e!Ensembl

Gene	ENSG00000134982
Transcript	ENST00000509732, ENST00000505350, ENST00000507379, ENST00000508624, ENST00000257430, ENST00000508376, ENST00000512211, ENST00000502371, ENST00000504915
Protein	ENSP00000426541, ENSP00000481752, ENSP00000423224, ENSP00000424265, ENSP00000257430, ENSP00000427089, ENSP00000423828, ENSP00000484935, ENSP00000473355

Gene Ontology (GO)

Show/Hide all(67 )

GO ID	Ontology	Function	Evidence	Reference
GO:0000281	Biological process	Mitotic cytokinesis	IMP	17570218
GO:0001708	Biological process	Cell fate specification	IBA	21873635
GO:0006974	Biological process	Cellular response to DNA damage stimulus	IDA	14728717
GO:0007026	Biological process	Negative regulation of microtubule depolymerization	IBA	21873635
GO:0007026	Biological process	Negative regulation of microtubule depolymerization	IDA	11166179
GO:0007026	Biological process	Negative regulation of microtubule depolymerization	IMP	17192415
GO:0007050	Biological process	Cell cycle arrest	IDA	8521819
GO:0007094	Biological process	Mitotic spindle assembly checkpoint	IMP	17227893
GO:0007155	Biological process	Cell adhesion	NAS	8259518
GO:0007389	Biological process	Pattern specification process	IBA	21873635
GO:0008285	Biological process	Negative regulation of cell proliferation	IDA	8521819
GO:0008286	Biological process	Insulin receptor signaling pathway	IMP	28057765
GO:0010942	Biological process	Positive regulation of cell death	IMP	28057765
GO:0016477	Biological process	Cell migration	IBA	21873635
GO:0016477	Biological process	Cell migration	IMP	19151759
GO:0030335	Biological process	Positive regulation of cell migration	IMP	17192415
GO:0031274	Biological process	Positive regulation of pseudopodium assembly	IMP	17192415
GO:0032886	Biological process	Regulation of microtubule-based process	IMP	20937854
GO:0043065	Biological process	Positive regulation of apoptotic process	IMP	17227893
GO:0045595	Biological process	Regulation of cell differentiation	IBA	21873635
GO:0045732	Biological process	Positive regulation of protein catabolic process	IBA	21873635
GO:0045732	Biological process	Positive regulation of protein catabolic process	IC	16188939
GO:0045732	Biological process	Positive regulation of protein catabolic process	IGI	12952940
GO:0045736	Biological process	Negative regulation of cyclin-dependent protein serine/threonine kinase activity	IDA	8521819
GO:0051260	Biological process	Protein homooligomerization	IMP	28057765
GO:0051988	Biological process	Regulation of attachment of spindle microtubules to kinetochore	IMP	17227893
GO:0051988	Biological process	Regulation of attachment of spindle microtubules to kinetochore	NAS	11283619
GO:0065003	Biological process	Protein-containing complex assembly	IDA	16188939
GO:0070830	Biological process	Bicellular tight junction assembly	NAS	18502210
GO:0090090	Biological process	Negative regulation of canonical Wnt signaling pathway	IBA	21873635
GO:0090090	Biological process	Negative regulation of canonical Wnt signaling pathway	IC	9601641
GO:0090090	Biological process	Negative regulation of canonical Wnt signaling pathway	IGI	12952940, 21471006
GO:0090090	Biological process	Negative regulation of canonical Wnt signaling pathway	NAS	16344550
GO:0120162	Biological process	Positive regulation of cold-induced thermogenesis	ISS	26948948
GO:1904781	Biological process	Positive regulation of protein localization to centrosome	IMP	28057765
GO:0000776	Cellular component	Kinetochore	IDA	11283619
GO:0005634	Cellular component	Nucleus	IDA	11035805, 12072559, 12955080
GO:0005737	Cellular component	Cytoplasm	IDA	11035805, 12955080, 20937854
GO:0005813	Cellular component	Centrosome	IDA	11283619
GO:0005874	Cellular component	Microtubule	IDA	28057765
GO:0005881	Cellular component	Cytoplasmic microtubule	IBA	21873635
GO:0005886	Cellular component	Plasma membrane	IDA	20937854
GO:0005886	Cellular component	Plasma membrane	IDA	16611247
GO:0005913	Cellular component	Cell-cell adherens junction	IDA	16611247
GO:0005923	Cellular component	Bicellular tight junction	IDA	18502210
GO:0016328	Cellular component	Lateral plasma membrane	IDA	12072559
GO:0016342	Cellular component	Catenin complex	IDA	7806582
GO:0030027	Cellular component	Lamellipodium	IDA	19151759
GO:0030877	Cellular component	Beta-catenin destruction complex	IBA	21873635
GO:0030877	Cellular component	Beta-catenin destruction complex	IDA	8638126, 9601641, 16188939
GO:0032587	Cellular component	Ruffle membrane	IDA	19151759
GO:0048471	Cellular component	Perinuclear region of cytoplasm	IDA	18076571
GO:1990909	Cellular component	Wnt signalosome	NAS	24115276
GO:0005515	Molecular function	Protein binding	IPI	8638126, 9601641, 9707618, 10656683, 10947987, 11283619, 11389840, 11425858, 11943150, 11972058, 15327768, 15327769, 16212417, 16293619, 16611247, 17145773, 17218255, 17318191, 17510365, 17588722, 17599059, 17925383, 18281465, 18502210, 19116273, 19632184, 20224554, 20936779, 213117
GO:0008013	Molecular function	Beta-catenin binding	IBA	21873635
GO:0008013	Molecular function	Beta-catenin binding	IDA	7806582
GO:0008013	Molecular function	Beta-catenin binding	IPI	7890674, 9707618, 10773885, 11533658, 16753179
GO:0008017	Molecular function	Microtubule binding	IDA	11166179, 16188939
GO:0019887	Molecular function	Protein kinase regulator activity	IDA	11972058
GO:0019901	Molecular function	Protein kinase binding	IPI	8638126
GO:0031625	Molecular function	Ubiquitin protein ligase binding	IDA	18076571
GO:0042802	Molecular function	Identical protein binding	IMP	28057765
GO:0045295	Molecular function	Gamma-catenin binding	IBA	21873635
GO:0045295	Molecular function	Gamma-catenin binding	IPI	7890674
GO:0045296	Molecular function	Cadherin binding	IDA	7890674
GO:0051010	Molecular function	Microtubule plus-end binding	IDA	19632184
GO:0070840	Molecular function	Dynein complex binding	IPI	28057765

Protein Information

Protein Name

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, protein phosphatase 1, regulatory subunit 46, truncated adenomatosis polyposis coli

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.

Refseq Proteins

NP_000029.2, NP_001120982.1, NP_001120983.2, NP_001341824.1, NP_001341825.1, NP_001341826.1, NP_001341827.1, NP_001341828.1, NP_001341829.1, NP_001341830.1, NP_001341831.1, NP_001341832.1, NP_001341833.1, NP_001341834.1, NP_001341835.1, NP_001120983.1

UniProt

P25054

PDB

4YJE, 4YJL, 4YK6, 1DEB, 1EMU, 1JPP, 1M5I, 1T08, 1TH1, 1V18, 2RQU, 3AU3, 3NMW, 3NMX, 3NMZ, 3QHE, 3RL7, 3RL8, 3T7U, 4G69, 5B6G, 5IZ6, 5IZ8, 5IZ9, 5IZA, 5Z8H

Pfam

Pfam Accession	Pfam ID
PF05972	APC_15aa
PF05956	APC_basic
PF16689	APC_N_CC
PF05923	APC_r
PF00514	Arm
PF05937	EB1_binding
PF05924	SAMP