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    MCC MCC regulator of WNT signaling pathway [ Homo sapiens (human) ]

    Gene ID: 4163, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MCCprovided by HGNC
    Official Full Name
    MCC regulator of WNT signaling pathwayprovided by HGNC
    Primary source
    HGNC:HGNC:6935
    See related
    Ensembl:ENSG00000171444 MIM:159350; AllianceGenome:HGNC:6935
    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
    MCC1
    Summary
    This gene is a candidate colorectal tumor suppressor gene that is thought to negatively regulate cell cycle progression. The orthologous gene in the mouse expresses a phosphoprotein associated with the plasma membrane and membrane organelles, and overexpression of the mouse protein inhibits entry into S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in ovary (RPKM 18.3), skin (RPKM 6.6) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MCC in Genome Data Viewer
    Location:
    5q22.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (113022106..113488453, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (113532656..114001170, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (112357803..112824150, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379123 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22913 Neighboring gene MPRA-validated peak5421 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16241 Neighboring gene Sharpr-MPRA regulatory region 12983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22914 Neighboring gene uncharacterized LOC105379126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22916 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:112312161-112312920 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22915 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:112317139-112317674 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:112369970-112370528 Neighboring gene decapping mRNA 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:112379403-112379941 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:112404856-112405632 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:112405633-112406407 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:112409037-112409538 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:112416605-112417526 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:112417522-112418721 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:112454694-112455201 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:112502443-112503642 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:112538908-112539449 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:112571092-112572066 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:112580307-112581082 Neighboring gene uncharacterized LOC124901045 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16242 Neighboring gene MPRA-validated peak5422 silencer Neighboring gene uncharacterized LOC107986366 Neighboring gene testis specific serine kinase 1B Neighboring gene Sharpr-MPRA regulatory region 13961 Neighboring gene uncharacterized LOC124901046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22921 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:112849193-112849694 Neighboring gene RNA, U4atac small nuclear 13, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Loss of heterozygosity of the Mutated in Colorectal Cancer gene is not associated with promoter methylation in non-small cell lung cancer. Poursoltan P, et al. Lung Cancer, 2012 Aug. PMID 22542170
    2. Phenotypic, cytogenetic, and molecular studies of three patients with constitutional deletions of chromosome 5 in the region of the gene for familial adenomatous polyposis. Lindgren V, et al. Am J Hum Genet, 1992 May. PMID 1315124, Free PMC Article
    3. Normal human chromosome 5, on which a familial adenomatous polyposis gene is located, has tumor suppressive activity. Hoshino Y, et al. Biochem Biophys Res Commun, 1991 Jan 15. PMID 1846539
    4. Loss of heterozygosity of MCC is not associated with mutation of the retained allele in sporadic colorectal cancer. Curtis LJ, et al. Hum Mol Genet, 1994 Mar. PMID 8012355
    5. MCC, a cytoplasmic protein that blocks cell cycle progression from the G0/G1 to S phase. Matsumine A, et al. J Biol Chem, 1996 Apr 26. PMID 8626604

    See all (73) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Two germline mutations can serve as genetic susceptibility screening makers for a lung adenocarcinoma family.
      Title: Two germline mutations can serve as genetic susceptibility screening makers for a lung adenocarcinoma family.
    2. This study provided new evidence of epistatic association of VAMP5 and MCC with increased risk of Hirschsprung disease
      Title: Association of VAMP5 and MCC genetic polymorphisms with increased risk of Hirschsprung disease susceptibility in Southern Chinese children.
    3. Alterations (deletion/methylation/mutation/expression) of MCC and CTNNBIP1 were analyzed in breast cancer patients (N=120) followed by expression/mutation analysis of beta-catenin. The alterations of MCC/CTNNBIP1 showed significant correlation with increased nuclear beta-catenin/p-beta-catenin(Y654) expression.
      Title: Frequent inactivation of MCC/CTNNBIP1 and overexpression of phospho-beta-catenin(Y654) are associated with breast carcinoma: Clinical and prognostic significance.
    4. Study described a novel tumor suppressor function of MCC in the regulation of E-cadherin mediated cell-cell adhesion in colorectal cancer cells.
      Title: 'MCC' protein interacts with E-cadherin and β-catenin strengthening cell-cell adhesion of HCT116 colon cancer cells.
    5. Data suggest that millisecond dynamic changes in PDZ1 domain conformation are responsible for higher affinity of scribble PDZ1 for phosphorylated ligands; oligopeptide fragments of RPS6KA2 and MCC were used as ligands in these nuclear magnetic resonance chemical shift experiments. (RPS6KA2 = ribosomal protein S6 kinase 2; MCC = mutated in colorectal cancer protein)
      Title: The Sign of Nuclear Magnetic Resonance Chemical Shift Difference as a Determinant of the Origin of Binding Selectivity: Elucidation of the Position Dependence of Phosphorylation in Ligands Binding to Scribble PDZ1.
    6. MCC might confer alterative genetic susceptibility to colorectal cancer in individuals with schizophrenia promising to shed more light on the relationship between schizophrenia and cancer progression.
      Title: Allele-specific expression of mutated in colorectal cancer (MCC) gene and alternative susceptibility to colorectal cancer in schizophrenia.
    7. Significantly, miR-4260 was increased in human colorectal cancer tissues with simultaneous downregulation of MCC and SMAD4.
      Title: Therapeutic Inhibition of miR-4260 Suppresses Colorectal Cancer via Targeting MCC and SMAD4.
    8. Our results indicate that in sharp contrast to its tumor suppressive role in colorectal cancer, MCC functions as an oncogene in B cells
      Title: Mutated in colorectal cancer (MCC) is a novel oncogene in B lymphocytes.
    9. cytoplasmic MCC-DBC1 interaction sequesters DBC1 away from the nucleus, thereby removing a brake on DBC1 nuclear targets, such as SIRT1
      Title: MCC inhibits beta-catenin transcriptional activity by sequestering DBC1 in the cytoplasm.
    10. targeted by miR-494, which is overexpressed in hepatocellular carcinoma
      Title: MicroRNA-494 within an oncogenic microRNA megacluster regulates G1/S transition in liver tumorigenesis through suppression of mutated in colorectal cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Colorectal cancer
    MedGen: C0346629 OMIM: 114500 GeneReviews: Lynch Syndrome
    		not available

    EBI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    EBI GWAS Catalog
    Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.
    EBI GWAS Catalog
    Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.
    EBI GWAS Catalog
    Integrative genome-wide association analysis of cytoarchitectural abnormalities in the prefrontal cortex of psychiatric disorders.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ38893, FLJ46755, DKFZp762O1615

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in establishment of protein localization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of canonical Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of epithelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of epithelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in lamellipodium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    colorectal mutant cancer protein
    Names
    MCC, WNT signaling pathway regulator
    mutated in colorectal cancers

    NCBI Reference Sequences (RefSeq)

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    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_012265.2 RefSeqGene

      Range
      5000..471347
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001085377.2 → NP_001078846.2  colorectal mutant cancer protein isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC008536, AC079465, AC093208, AC106750, AC126917
      Consensus CDS
      CCDS43351.1
      Related
      ENSP00000386227.3, ENST00000408903.7
      Conserved Domains (3) summary
      pfam10506
      Location:592 → 655
      MCC-bdg_PDZ; PDZ domain of MCC-2 bdg protein for Usher syndrome
      pfam13499
      Location:37 → 93
      EF-hand_7; EF-hand domain pair
      cl25732
      Location:203 → 479
      SMC_N; RecF/RecN/SMC N terminal domain

    2. NM_002387.3 → NP_002378.2  colorectal mutant cancer protein isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has a distinct 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC008536, AC106750, AC126917
      Consensus CDS
      CCDS4111.1
      UniProtKB/Swiss-Prot
      D3DT05, P23508, Q6ZR04
      UniProtKB/TrEMBL
      Q7Z3E9
      Related
      ENSP00000305617.4, ENST00000302475.9
      Conserved Domains (3) summary
      COG1196
      Location:558 → 821
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:14 → 289
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam10506
      Location:402 → 465
      MCC-bdg_PDZ; PDZ domain of MCC-2 bdg protein for Usher syndrome

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      113022106..113488453 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      113532656..114001170 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P23508.2 GenPept UniProtKB/Swiss-Prot:P23508

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools