U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 4163, updated on 4-Jun-2023

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MCC in Genome Data Viewer
    Location:
    5q22.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (113022106..113488453, complement)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (113532656..114001170, complement)
    105.20220307 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 NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:112312161-112312920 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 uncharacterized LOC107986366 Neighboring gene testis specific serine kinase 1B Neighboring gene Sharpr-MPRA regulatory region 13961 Neighboring gene RNA, U4atac small nuclear 13, pseudogene Neighboring gene uncharacterized LOC124901046 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:112849193-112849694

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Colorectal cancer
    MedGen: C0346629 OMIM: 114500 GeneReviews: Lynch Syndrome
    Compare labs

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001085377.2NP_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:592655
      MCC-bdg_PDZ; PDZ domain of MCC-2 bdg protein for Usher syndrome
      pfam13499
      Location:3793
      EF-hand_7; EF-hand domain pair
      cl25732
      Location:203479
      SMC_N; RecF/RecN/SMC N terminal domain
    2. NM_002387.3NP_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
      Q6ZR04
      Related
      ENSP00000305617.4, ENST00000302475.9
      Conserved Domains (3) summary
      COG1196
      Location:558821
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:14289
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam10506
      Location:402465
      MCC-bdg_PDZ; PDZ domain of MCC-2 bdg protein for Usher syndrome

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

    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)