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    MCC mutated in colorectal cancers [ Homo sapiens ]

    Gene ID: 4163, updated on 11-May-2012

    Summary

    Official Symbol
    MCCprovided by HGNC
    Official Full Name
    mutated in colorectal cancersprovided by HGNC
    Primary source
    HGNC:6935
    See related
    Ensembl:ENSG00000171444; HPRD:01157; 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; FLJ38893; FLJ46755; DKFZp762O1615
    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]

    Genomic context

    Location :
    5q21
    Sequence :
    Chromosome: 5; NC_000005.9 (112357796..112824527, complement)

    Chromosome 5 - NC_000005.9Genomic Context describing neighboring genes Neighboring gene signal recognition particle 19kDa Neighboring gene X-box binding protein 1 pseudogene 1 Neighboring gene receptor accessory protein 5 Neighboring gene zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1 Neighboring gene DCP2 decapping enzyme homolog (S. cerevisiae) Neighboring gene testis-specific serine kinase 1B Neighboring gene YTH domain containing 2 Neighboring gene potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_002378.1 NP_002494.2 NFKBIB    BIND  PubMed MCC1 interacts with NFKBIB (I-kappa-B-beta). 
    P23508 Q15653 NFKBIB    HPRD  PubMed  
    BioGRID:110333 BioGRID:107319 CBR1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:114417 CCNA1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:107623 CLTC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:107837 CSNK1D    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:107838 CSNK1E    BioGRID  PubMed Affinity Capture-MS; Two-hybrid 
    BioGRID:110333 BioGRID:205180 Csnk1e    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:108040 DFFA    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:108118 DYNC1I1    BioGRID  PubMed Two-hybrid 
    BioGRID:110333 BioGRID:114210 EIF3A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:108372 EPRS    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:113271 EZR    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:124497 FAM40A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:109488 HPRT1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:109605 IARS    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:110073 KRT18    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:110226 LTA4H    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:110311 MARS    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:110622 MTHFD1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:110713 MYH10    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:110826 NEK2    BioGRID  PubMed Two-hybrid 
    BioGRID:110333 BioGRID:115852 PAICS    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:116400 PDCD10    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:111221 PFAS    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:111235 PFKP    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:111510 PPP2R1A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:111681 PSMD2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:115492 PSME3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:116661 SNRNP200    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:114011 STK24    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:112674 STRN    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:118999 STRN3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:118941 STRN4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:112760 TARS    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:113023 TPM3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:113258 VCP    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:113259 VDAC1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:113269 VHL    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110333 BioGRID:120855 VPS35    BioGRID  PubMed Affinity Capture-MS 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • TNF-alpha/NF-kB Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TNF-alpha/NF-kB Signaling Pathway, organism-specific biosystem"The Tumor Necrosis Factor alpha is a proinflammatory cytokine belonging to the TNF superfamily. It signals through 2 separate receptors - TNFRSF1A and TNFRSF1B, both members of the TNF receptor supe...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
     
    receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    colorectal mutant cancer protein
    Names
    colorectal mutant cancer protein

    NCBI Reference Sequences (RefSeq)

    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, OTTHUMP00000222860, ENST00000408903, OTTHUMT00000370839
      Conserved Domains (4) summary
      cd00051
      Location:3995
      Blast Score: 110
      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:591645
      Blast Score: 173
      MCC-bdg_PDZ; PDZ domain of MCC-2 bdg protein for Usher syndrome
      TIGR02168
      Location:203451
      Blast Score: 132
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam13499
      Location:4596
      Blast Score: 112
      EF_hand_5; EF-hand domain pair
    2. NM_002387.2NP_002378.1  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, AK128596, BC009279, M62397
      Consensus CDS
      CCDS4111.1
      UniProtKB/Swiss-Prot
      P23508
      Related
      ENSP00000305617, OTTHUMP00000159017, ENST00000302475, OTTHUMT00000250736
      Conserved Domains (2) summary
      pfam10506
      Location:401455
      Blast Score: 169
      MCC-bdg_PDZ; PDZ domain of MCC-2 bdg protein for Usher syndrome
      TIGR02168
      Location:34261
      Blast Score: 113
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000005.9 Reference GRCh37.p5 Primary Assembly

      Range
      112357796..112824527, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000137.1 Alternate HuRef

      Range
      107537529..108007449, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC008536.7 (162405..174553) None
    genomic AC010431.7 (66883..117639) None
    genomic AC079465.5 None
    genomic AC093208.2 (67215..110524) None
    genomic AC106750.3 (217..101223) None
    genomic AC126917.1 (10029..169378) None
    genomic CH471086.2 EAW48984.1
      EAW48985.1
      EAW48986.1
      EAW48987.1
    mRNA AK096212.1 BAG53232.1
    mRNA AK128596.1 BAC87521.1
    mRNA AK300259.1 BAH13246.1
    mRNA AL359558.1 None
    mRNA BC009279.2 AAH09279.1
    mRNA BC018919.2 AAH18919.1
    mRNA BC043431.2 None
    mRNA BX537952.1 CAD97919.1
    mRNA BX647710.1 None
    mRNA CF887436.1 None
    mRNA CR749713.1 None
    mRNA M62397.1 AAA52069.1
    other-genetic AM393612.1 CAL38488.1
    other-genetic EU831990.1 ACE87431.1
    other-genetic EU832083.1 ACE86745.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P23508.2 GenPept UniProtKB/Swiss-Prot:P23508
    Q7Z3E9 GenPept UniProtKB/TrEMBL:Q7Z3E9

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