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    APC adenomatous polyposis coli [ Homo sapiens (human) ]

    Gene ID: 324, updated on 26-Jul-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)