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    MCC mutated in colorectal cancers [ Homo sapiens (human) ]

    Gene ID: 4163, updated on 5-Nov-2017
    Official Symbol
    MCCprovided by HGNC
    Official Full Name
    mutated in colorectal cancersprovided by HGNC
    Primary source
    HGNC:HGNC:6935
    See related
    Ensembl:ENSG00000171444 MIM:159350; Vega:OTTHUMG00000128804
    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]
    Orthologs
    Location:
    5q22.2
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (113022099..113488830, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (112357796..112824527, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379123 Neighboring gene uncharacterized LOC105379126 Neighboring gene decapping mRNA 2 Neighboring gene uncharacterized LOC107986366 Neighboring gene testis specific serine kinase 1B Neighboring gene RNA, U4atac small nuclear 13, pseudogene Neighboring gene YTH domain containing 2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

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

    Markers

    Homology

    Clone Names

    • FLJ38893, FLJ46755, DKFZp762O1615

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    lamellipodium IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    colorectal mutant cancer protein

    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_012265.1 RefSeqGene

      Range
      5001..471732
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001085377.1NP_001078846.1  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, AC106750, AC126917, AK128596, BC009279, CF887436
      Consensus CDS
      CCDS43351.1
      UniProtKB/Swiss-Prot
      P23508
      Related
      ENSP00000386227.3, OTTHUMP00000222860, ENST00000408903.6, OTTHUMT00000370839
      Conserved Domains (3) summary
      cd00051
      Location:4195
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam10506
      Location:592655
      MCC-bdg_PDZ; PDZ domain of MCC-2 bdg protein for Usher syndrome
      pfam13499
      Location:4093
      EF-hand_7; EF-hand domain pair
    2. NM_002387.2NP_002378.1  colorectal mutant cancer protein isoform 2

      See identical proteins and their annotated locations for NP_002378.1

      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, AK128596, BC009279, M62397
      Consensus CDS
      CCDS4111.1
      UniProtKB/Swiss-Prot
      P23508
      Related
      ENSP00000305617.4, OTTHUMP00000159017, ENST00000302475.8, OTTHUMT00000250736
      Conserved Domains (1) summary
      pfam10506
      Location:402465
      MCC-bdg_PDZ; PDZ domain of MCC-2 bdg protein for Usher syndrome

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      113022099..113488830 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009473.1XP_016864962.1  colorectal mutant cancer protein isoform X1

    2. XM_005271991.2XP_005272048.1  colorectal mutant cancer protein isoform X2

      Conserved Domains (1) summary
      pfam10506
      Location:402465
      MCC-bdg_PDZ; PDZ domain of MCC-2 bdg protein for Usher syndrome
    3. XM_017009474.1XP_016864963.1  colorectal mutant cancer protein isoform X3

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      111791093..112258011 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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