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APC adenomatous polyposis coli [ Homo sapiens (human) ]

Gene ID: 324, updated on 30-Jun-2015
Official Symbol
APCprovided by HGNC
Official Full Name
adenomatous polyposis coliprovided by HGNC
Primary source
HGNC:HGNC:583
See related
Ensembl:ENSG00000134982; HPRD:01439; MIM:611731; Vega:OTTHUMG00000128806
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GS; DP2; DP3; BTPS2; DP2.5; PPP1R46
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. 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]
Orthologs
Location:
5q21-q22
Exon count:
18
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 5 NC_000005.10 (112707505..112846239)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (112043202..112181936)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102467214 Neighboring gene uncharacterized LOC102467216 Neighboring gene chromobox homolog 3 pseudogene 3 Neighboring gene signal recognition particle 19kDa Neighboring gene receptor accessory protein 5 Neighboring gene X-box binding protein 1 pseudogene 1 Neighboring gene zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in APC that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Associated conditions

Description Tests
Carcinoma of colon
MedGen: C0699790 OMIM: 114500 GeneReviews: Not available
Compare labs
Desmoid disease, hereditary
MedGen: C1851124 OMIM: 135290 GeneReviews: Not available
Compare labs
Familial adenomatous polyposis 1 Compare labs
Hepatocellular carcinoma
MedGen: C2239176 OMIM: 114550 GeneReviews: Not available
Compare labs
Neoplasm of stomach
MedGen: C0038356 OMIM: 613659 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-07-06)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-06)

ClinGen Genome Curation PagePubMed
Products Interactant Other Gene Complex Source Pubs Description

Markers

Potential readthrough

Included gene: SRP19

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
beta-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
NOT cadherin binding IDA
Inferred from Direct Assay
more info
PubMed 
gamma-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
microtubule binding IDA
Inferred from Direct Assay
more info
PubMed 
microtubule plus-end binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
T cell differentiation in thymus IEA
Inferred from Electronic Annotation
more info
 
anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
 
apoptotic process TAS
Traceable Author Statement
more info
 
axis specification IEA
Inferred from Electronic Annotation
more info
 
axonogenesis IEA
Inferred from Electronic Annotation
more info
 
bicellular tight junction assembly NAS
Non-traceable Author Statement
more info
PubMed 
canonical Wnt signaling pathway IC
Inferred by Curator
more info
PubMed 
canonical Wnt signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
canonical Wnt signaling pathway involved in negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
canonical Wnt signaling pathway involved in positive regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
cell cycle arrest IDA
Inferred from Direct Assay
more info
PubMed 
cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular component disassembly involved in execution phase of apoptosis TAS
Traceable Author Statement
more info
 
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
chromosome organization IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic microtubule organization IEA
Inferred from Electronic Annotation
more info
 
dorsal/ventral pattern formation IEA
Inferred from Electronic Annotation
more info
 
hair follicle development IEA
Inferred from Electronic Annotation
more info
 
kidney development IEA
Inferred from Electronic Annotation
more info
 
metaphase/anaphase transition of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
mitotic cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic spindle assembly checkpoint IMP
Inferred from Mutant Phenotype
more info
PubMed 
muscle cell cellular homeostasis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of MAPK cascade IEA
Inferred from Electronic Annotation
more info
 
negative regulation of canonical Wnt signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cyclin-dependent protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of epithelial cell proliferation involved in prostate gland development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of microtubule depolymerization IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of microtubule depolymerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of odontogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of canonical Wnt signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of cell adhesion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell division IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of microtubule polymerization IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein catabolic process IC
Inferred by Curator
more info
PubMed 
positive regulation of protein catabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of pseudopodium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
programmed cell death TAS
Traceable Author Statement
more info
 
protein complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
proximal/distal pattern formation IEA
Inferred from Electronic Annotation
more info
 
regulation of attachment of spindle microtubules to kinetochore IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of attachment of spindle microtubules to kinetochore NAS
Non-traceable Author Statement
more info
PubMed 
regulation of microtubule-based process IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of nitrogen compound metabolic process IEA
Inferred from Electronic Annotation
more info
 
regulation of osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of osteoclast differentiation IEA
Inferred from Electronic Annotation
more info
 
retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
somatic stem cell maintenance IEA
Inferred from Electronic Annotation
more info
 
thymus development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axonal growth cone IEA
Inferred from Electronic Annotation
more info
 
beta-catenin destruction complex IDA
Inferred from Direct Assay
more info
PubMed 
bicellular tight junction IDA
Inferred from Direct Assay
more info
PubMed 
catenin complex IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with cell-cell adherens junction IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic microtubule IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
lateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
microtubule plus-end IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
ruffle membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
adenomatous polyposis coli protein
Names
adenomatosis polyposis coli tumor suppressor
deleted in polyposis 2.5
protein phosphatase 1, regulatory subunit 46
truncated adenomatosis polyposis coli

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008481.4 RefSeqGene

    Range
    19985..158719
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_130

mRNA and Protein(s)

  1. NM_000038.5NP_000029.2  adenomatous polyposis coli protein isoform b

    See identical proteins and their annotated locations for NP_000029.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. This variant also contains an alternate in-frame exon compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is longer than isoform a. Variants 2 and 3 encode the same isoform (b).
    Source sequence(s)
    AB210001, CA313732, DA795663, M73548
    Consensus CDS
    CCDS4107.1
    UniProtKB/Swiss-Prot
    P25054
    UniProtKB/TrEMBL
    Q4LE70
    Related
    ENSP00000257430, OTTHUMP00000159019, ENST00000257430, OTTHUMT00000250738
    Conserved Domains (6) summary
    pfam05937
    Location:26702843
    EB1_binding; EB-1 Binding Domain
    pfam05923
    Location:16361661
    APC_crr; APC cysteine-rich region
    pfam05924
    Location:20342053
    SAMP; SAMP Motif
    pfam11414
    Location:126208
    Suppressor_APC; Adenomatous polyposis coli tumor suppressor protein
    cd00020
    Location:611731
    ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
    pfam05956
    Location:22232568
    APC_basic; APC basic domain
  2. NM_001127510.2NP_001120982.1  adenomatous polyposis coli protein isoform b

    See identical proteins and their annotated locations for NP_001120982.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. This variant also contains an alternate in-frame exon compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is longer than isoform a. Variants 2 and 3 encode the same isoform (b).
    Source sequence(s)
    AB210001, CA313732, DA795663
    Consensus CDS
    CCDS4107.1
    UniProtKB/Swiss-Prot
    P25054
    UniProtKB/TrEMBL
    Q4LE70
    Related
    ENSP00000427089, OTTHUMP00000222841, ENST00000508376, OTTHUMT00000370794
    Conserved Domains (6) summary
    pfam05937
    Location:26702843
    EB1_binding; EB-1 Binding Domain
    pfam05923
    Location:16361661
    APC_crr; APC cysteine-rich region
    pfam05924
    Location:20342053
    SAMP; SAMP Motif
    pfam11414
    Location:126208
    Suppressor_APC; Adenomatous polyposis coli tumor suppressor protein
    cd00020
    Location:611731
    ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
    pfam05956
    Location:22232568
    APC_basic; APC basic domain
  3. NM_001127511.2NP_001120983.2  adenomatous polyposis coli protein isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the shorter isoform (a).
    Source sequence(s)
    AB210001, AK294544, BP230350, CA313732
    UniProtKB/TrEMBL
    B7Z2B6
    UniProtKB/TrEMBL
    Q4LE70
    Conserved Domains (6) summary
    pfam05937
    Location:26522825
    EB1_binding; EB-1 Binding Domain
    pfam05923
    Location:16181643
    APC_crr; APC cysteine-rich region
    pfam05924
    Location:20162035
    SAMP; SAMP Motif
    pfam11414
    Location:136218
    Suppressor_APC; Adenomatous polyposis coli tumor suppressor protein
    cd00020
    Location:593713
    ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
    pfam05956
    Location:22052550
    APC_basic; APC basic domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p2 Primary Assembly

    Range
    112707505..112846239
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 Alternate CHM1_1.1

    Range
    111476576..111615241
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)