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

Gene ID: 4163, updated on 12-Oct-2019

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
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

Genomic context

See MCC in Genome Data Viewer
Location:
5q22.2
Exon count:
26
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (113022101..113488453, 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

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

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic ribonucleoprotein granule IDA
Inferred from Direct Assay
more info
 
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 

General protein information

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

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_001085377.2NP_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
    Related
    ENSP00000305617.4, ENST00000302475.8

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    113022101..113488453 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_024446051.1XP_024301819.1  colorectal mutant cancer protein isoform X4

    Conserved Domains (2) summary
    pfam10506
    Location:339402
    MCC-bdg_PDZ; PDZ domain of MCC-2 bdg protein for Usher syndrome
    cl25732
    Location:495780
    SMC_N; RecF/RecN/SMC N terminal domain
  3. XM_024446049.1XP_024301817.1  colorectal mutant cancer protein isoform X4

    Conserved Domains (2) summary
    pfam10506
    Location:339402
    MCC-bdg_PDZ; PDZ domain of MCC-2 bdg protein for Usher syndrome
    cl25732
    Location:495780
    SMC_N; RecF/RecN/SMC N terminal domain
  4. XM_024446050.1XP_024301818.1  colorectal mutant cancer protein isoform X4

    Related
    ENSP00000421615.2, ENST00000515367.6
    Conserved Domains (2) summary
    pfam10506
    Location:339402
    MCC-bdg_PDZ; PDZ domain of MCC-2 bdg protein for Usher syndrome
    cl25732
    Location:495780
    SMC_N; RecF/RecN/SMC N terminal domain
  5. XM_017009474.1XP_016864963.1  colorectal mutant cancer protein isoform X3

  6. XM_024446052.1XP_024301820.1  colorectal mutant cancer protein isoform X4

    Conserved Domains (2) summary
    pfam10506
    Location:339402
    MCC-bdg_PDZ; PDZ domain of MCC-2 bdg protein for Usher syndrome
    cl25732
    Location:495780
    SMC_N; RecF/RecN/SMC N terminal domain
  7. XM_005271991.3XP_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
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