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Relevance to Autism

Rare mutation (Barber et al., 1994) and genetic association (Zhou et al., 2007) of the APC gene has been identified with autism.

Molecular Function

The encoded protein is a tumor suppressor.

External Links

       

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion.
ASD
adenomatous polyposis coli
Positive Association
Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD).
ASD
Highly Cited
Activation of beta-catenin-Tcf signaling in colon cancer by mutations in beta-catenin or APC.
Recent Recommendation
The postsynaptic adenomatous polyposis coli (APC) multiprotein complex is required for localizing neuroligin and neurexin to neuronal nicotinic synapses in vivo.
Recent Recommendation
Adenomatous polyposis coli and Asef function downstream of hepatocyte growth factor and phosphatidylinositol 3-kinase.
Recent Recommendation
A two-step model for colon adenoma initiation and progression caused by APC loss.
Recent Recommendation
Alterations of the Wnt signaling pathway during the neoplastic progression of Barrett\'s esophagus.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN013R001 
 Deletion 
 N/A 
 N/A 
 De novo 
  
  

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN013C001 
 Substitution 
 rs1804197 
 C8636A 
 N/A 
 Swedish 
 Discovery 



No Animal Model Data Available



Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ACTN1 actinin, alpha 1 87 P12814 Y2H
Bandyopadhyay S 2010
AGFG1 ArfGAP with FG repeats 1 3267 P52594 Y2H
Bandyopadhyay S 2010
ANKRD17 ankyrin repeat domain 17 26057 O75179 Y2H
Bandyopadhyay S 2010
ANXA7 annexin A7 310 P20073 Y2H
Bandyopadhyay S 2010
AP2B1 adaptor-related protein complex 2, beta 1 subunit 163 P63010 Y2H
Bandyopadhyay S 2010
APC adenomatous polyposis coli 324 P25054 in vitro binding assay
IP/WB (lymphoblastoid cells)
Su LK 1993
ARHGEF4 Rho guanine nucleotide exchange factor (GEF) 4 50649 Q9NR80 GST (purified proteins)
IP/WB (rat brain)
Y2H
Kawasaki Y 2000
AXIN1 axin 1 8312 O15169 in vitro binding assay
IP/WB (HT180 cells)
Nakamura T 1998
AXIN2 axin 2 8313 Q9Y2T1 IP/WB (Neuro2A cells)
von Kries JP 2000
BUB1 budding uninhibited by benzimidazoles 1 homolog (yeast) 699 O43683 in vitro kinase assay
IP/WB (HeLa cells)
Kaplan KB 2001
BUB1B budding uninhibited by benzimidazoles 1 homolog beta (yeast) 701 O60566 in vitro kinase assay
Kaplan KB 2001
BUB3 budding uninhibited by benzimidazoles 3 homolog (yeast) 9184 O43684 in vitro kinase assay
IP/WB (HeLa cells)
Kaplan KB 2001
C4A complement component 4A (Rodgers blood group)? 720 P0C0L4 Y2H
Bandyopadhyay S 2010
CGNL1 cingulin-like 1 84952 Q0VF96 Y2H
Bandyopadhyay S 2010
COG4 component of oligomeric golgi complex 4 25839 Q9H9E3 Y2H
Bandyopadhyay S 2010
COG5 component of oligomeric golgi complex 5 10466 Q9UP83 Y2H
Bandyopadhyay S 2010
CREBBP CREB binding protein 1387 Q92793 Y2H
Bandyopadhyay S 2010
CSNK1A1 casein kinase 1, alpha 1 1452 P48729 metabolic labeling with 32P (purified proteins)
Godin KS 2009
CSNK1E ?casein kinase 1, epsilon 1454 P49674 IP/WB (HEK293 cells)
Rubinfeld B 2001
CSNK2A1 casein kinase 2, alpha 1 polypeptide 1457 P68400 GST (purified proteins)
in vitro kinase assay
IP/WB (KMS-4 cells)
IP/WB (KMS-8 cells)
IP/WB (SW480 cells)
IP/WB (TIG-3 cells)
Homma MK 2002
CSNK2B casein kinase 2, beta polypeptide 1460 P67870 GST (purified proteins)
in vitro kinase assay
IP/WB (KMS-4 cells)
IP/WB (KMS-8 cells)
IP/WB (SW480 cells)
IP/WB (TIG-3 cells)
Homma MK 2002
CTBP1 ?C-terminal binding protein 1 1487 Q13363 GST (purified proteins)
GST/MS (Drosophila)
IP/WB (COLO320 cells)
IP/WB (HCT116 cells)
IP/WB (HEK293T cells)
IP/WB (SW480 cells)
Hamada F 2004
CTNNA1 catenin (cadherin-associated protein), alpha 1, 102kDa 1495 P35221 in vitro binding assay
IP/WB (HCT116 cells)
IP/WB (SW480 cells)
peptide mapping (HCT116 cells)
peptide mapping (SW480 cells)
Su LK 1993
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1499 P35222 in vitro binding assay
IP/WB (HCT116 cells)
IP/WB (SW480 cells)
peptide mapping (HCT116 cells)
peptide mapping (SW480 cells)
Su LK 1993
CYTH2 cytohesin 2 9266 Q99418 Y2H
Bandyopadhyay S 2010
DLG3 discs, large homolog 3 (Drosophila) 1741 Q92796 GST (HT1080 cells)
Y2H
Makino K 1997
DST ?dystonin 667 Q03001 Y2H
Bandyopadhyay S 2010
EPAS1 endothelial PAS domain protein 1 2034 Q99814 Y2H
Bandyopadhyay S 2010
ERBB2IP ?erbb2 interacting protein 55914 Q96RT1 Y2H
Bandyopadhyay S 2010
EXPH5 ?exophilin 5 23086 Q8NEV8 Y2H
Bandyopadhyay S 2010
FBXO30 F-box protein 30 84085 Q8TB52 Y2H
Bandyopadhyay S 2010
FHOD1 formin homology 2 domain containing 1? 29109 Q9Y613 Y2H
Bandyopadhyay S 2010
FLNA ?filamin A, alpha 2316 P21333 Y2H
Bandyopadhyay S 2010
GIGYF2 ?GRB10 interacting GYF protein 2 26058 Q6Y7W6 Y2H
Bandyopadhyay S 2010
GOLGA2 golgin A2 2801 Q08379 Y2H
Bandyopadhyay S 2010
GSK3B glycogen synthase kinase 3 beta 2932 P49841 IP/WB (LNCapFGC cells)
IP/WB (PC-3 cells)
Davies G 2001
HGS hepatocyte growth factor-regulated tyrosine kinase substrate 9146 O14964 Y2H
Bandyopadhyay S 2010
HNRNPM heterogeneous nuclear ribonucleoprotein M 4670 P52272 Y2H
Bandyopadhyay S 2010
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 3309 Q2KHP4 Y2H
Bandyopadhyay S 2010
ING5 inhibitor of growth family, member 5 84289 Q8WYH8 Y2H
Bandyopadhyay S 2010
IQGAP1 IQ motif containing GTPase activating protein 1 8826 P46940 in vitro binding assay
IP/WB (COS-7 cells)
IP/WB (Vero cells)
Watanabe T 2004
JUP junction plakoglobin 3728 P14923 GST (A431 cells)
IP/WB (A431 cells)
Shibata T 1994
KIAA1328 KIAA1328 57536 Q86T90 Y2H
Bandyopadhyay S 2010
KIAA1370 KIAA1370 56204 Q32MH5 Y2H
Bandyopadhyay S 2010
KIF5B kinesin family member 5B 3799 P33176 Y2H
Bandyopadhyay S 2010
KIFAP3 kinesin-associated protein 3 22920 Q92845 in vitro binding assay
IP/WB (MDCK cells)
Y2H
Jimbo T 2002
KRT13 keratin 13 3860 P13646 Y2H
Bandyopadhyay S 2010
KRT14 keratin 14 3861 P02533 Y2H
Bandyopadhyay S 2010
KRT15 ?keratin 15 3866 P19012 Y2H
Bandyopadhyay S 2010
KRT17 keratin 17 3872 Q04695 Y2H
Bandyopadhyay S 2010
KRT19 keratin 19 3880 P08727 Y2H
Bandyopadhyay S 2010
KRT23 keratin 23 (histone deacetylase inducible)? 25984 Q9C075 Y2H
Bandyopadhyay S 2010
KRT5 keratin 5 3852 P13647 Y2H
Bandyopadhyay S 2010
LAMA3 laminin, alpha 3? 3909 Q16787 Y2H
Bandyopadhyay S 2010
LAMA4 ?laminin, alpha 4 3910 Q16363 Y2H
Bandyopadhyay S 2010
LPHN1 latrophilin 1 22859 O94910 Y2H
Bandyopadhyay S 2010
MACF1 ?microtubule-actin crosslinking factor 1 23499 Q9UPN3 Y2H
Bandyopadhyay S 2010
MAPRE1 microtubule-associated protein, RP/EB family, member 1 22919 Q15691 GST (HCT116 cells)
Askham JM 2002
MBD5 methyl-CpG binding domain protein 5 55777 Q9P267 Y2H
Bandyopadhyay S 2010
MCM3AP minichromosome maintenance complex component 3 associated protein 8888 O60318 Y2H
Bandyopadhyay S 2010
MUC1 ?mucin 1, cell surface associated 4582 P15941 IP/WB (cells from human patients)
IP/WB (ZR-75-1 cells)
Hattrup CL 2004
MYH10 myosin, heavy chain 10, non-muscle 4628 P35580 Y2H
Bandyopadhyay S 2010
MYH11 myosin, heavy chain 11, smooth muscle 4629 P35749 Y2H
Bandyopadhyay S 2010
MYO6 myosin VI 4646 Q9UM54 Y2H
Bandyopadhyay S 2010
NAV1 neuron navigator 1 89796 Q8NEY1 Y2H
Bandyopadhyay S 2010
NAV2 neuron navigator 2 89797 Q8IVL1 Y2H
Bandyopadhyay S 2010
NAV3 neuron navigator 3 89795 Q8IVL0 Y2H
Bandyopadhyay S 2010
NCKAP5 NCK-associated protein 5 344148 O14513 Y2H
Bandyopadhyay S 2010
NCKAP5L NCK-associated protein 5-like 57701 Q9HCH0 Y2H
Bandyopadhyay S 2010
ND4 ?mitochondrially encoded NADH dehydrogenase 4 4538 P03905 Y2H
Bandyopadhyay S 2010
NEB nebulin 4703 P20929 Y2H
Bandyopadhyay S 2010
NOSTRIN nitric oxide synthase trafficker 115677 Q8IVI9 Y2H
Bandyopadhyay S 2010
NUP153 ?nucleoporin 153kDa 9972 P49790 Y2H
Bandyopadhyay S 2010
NUP214 nucleoporin 214kDa 8021 P35658 Y2H
Bandyopadhyay S 2010
NUP54 nucleoporin 54kDa 53371 Q7Z3B4 Y2H
Bandyopadhyay S 2010
NUP98 nucleoporin 98kDa 4928 P52948 Y2H
Bandyopadhyay S 2010
NUPL1 nucleoporin like 1 9818 Q9BVL2 Y2H
Bandyopadhyay S 2010
NUPL2 nucleoporin like 2 11097 O15504 Y2H
Bandyopadhyay S 2010
PNISR PNN-interacting serine/arginine-rich protein 25957 Q8TF01 Y2H
Bandyopadhyay S 2010
POM121 POM121 membrane glycoprotein 9883 Q96HA1 Y2H
Bandyopadhyay S 2010
POM121C POM121 membrane glycoprotein C 100101267 A8CG34 Y2H
Bandyopadhyay S 2010
PPP1R13B ?protein phosphatase 1, regulatory (inhibitor) subunit 13B 23368 Q8WUF5 Y2H
Bandyopadhyay S 2010
PPP2CA protein phosphatase 2, catalytic subunit, alpha isoenzyme 5515 P67775 metabolic labeling with 32P (purified proteins)
Ikeda S 2000
PSMD1 proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 5707 Q99460 Y2H
Bandyopadhyay S 2010
PTPN13 protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 5783 O14603 GST (COS cells)
in vitro binding assay
surface plasmon resonance (GST proteins)
Y2H
Erdmann KS 2000
RANBP2 RAN binding protein 2 5903 P49792 Y2H
Bandyopadhyay S 2010
RANBP9 RAN binding protein 9 10048 Q96S59 Y2H
Bandyopadhyay S 2010
RBM4B RNA binding motif protein 4B 83759 Q9BQ04 Y2H
Bandyopadhyay S 2010
RP1 ?retinitis pigmentosa 1 (autosomal dominant) 6101 P56715 IP/WB (SW58 cells)
Renner C 1997
RPS27 ?ribosomal protein S27 6232 P42677 Y2H
Bandyopadhyay S 2010
SEC31A SEC31 homolog A (S. cerevisiae) 22872 O94979 Y2H
Bandyopadhyay S 2010
SETDB1 SET domain, bifurcated 1 9869 Q15047 Y2H
Bandyopadhyay S 2010
SFN ?stratifin 2810 P31947 tandem affinity purification/MudPIT (HEK293T cells)
Benzinger A 2005
SIAH1 seven in absentia homolog 1 (Drosophila) 6477 Q8IUQ4 in vitro binding assay
IP/WB (HEK293T cells)
Liu J 2001
SMC3 structural maintenance of chromosomes 3 9126 Q9UQE7 Y2H
Bandyopadhyay S 2010
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5) 23020 O75643 Y2H
Bandyopadhyay S 2010
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like 23384 Q69YQ0 Y2H
Bandyopadhyay S 2010
SPTBN1 spectrin, beta, non-erythrocytic 1 6711 Q01082 Y2H
Bandyopadhyay S 2010
SPTBN2 spectrin, beta, non-erythrocytic 2 6712 O15020 Y2H
Bandyopadhyay S 2010
SYNE1 spectrin repeat containing, nuclear envelope 1? 23345 Q8NF91 Y2H
Bandyopadhyay S 2010
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 6872 P21675 Y2H
Bandyopadhyay S 2010
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 7020 P05549 GST (purified proteins)
in vitro binding assay
IP/WB (HCT116 cells)
IP/WB (HEK293 cells)
IP/WB (HT29 cells)
Li Q 2004
TOP3B topoisomerase (DNA) III beta 8940 O95985 HITS-CLIP (HeLa cells)
Xu D 2013
TPR translocated promoter region (to activated MET oncogene)? 7175 P12270 Y2H
Bandyopadhyay S 2010
TRIM21 tripartite motif-containing 21 6737 P19474 Y2H
Bandyopadhyay S 2010
UBC ubiquitin C? 7316 P63279 in vitro ubiquitination assay
IP/WB (HEK293T cells)
WB (HEK293T cells)
Choi J 2004
XPO1 exportin 1 (CRM1 homolog, yeast) 7514 O14980 affinity chromatography (purified proteins)
Tickenbrock L 2002
ZFP106 zinc finger protein 106 homolog (mouse) 64397 Q9H2Y7 Y2H
Bandyopadhyay S 2010
Dlgap1 discs, large (Drosophila) homolog-associated protein 1 65040 P97836 IP/WB (rat brain)
Satoh K 1997

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