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    MACC1 MET transcriptional regulator MACC1 [ Homo sapiens (human) ]

    Gene ID: 346389, updated on 27-Nov-2024

    Summary

    Official Symbol
    MACC1provided by HGNC
    Official Full Name
    MET transcriptional regulator MACC1provided by HGNC
    Primary source
    HGNC:HGNC:30215
    See related
    Ensembl:ENSG00000183742 MIM:612646; AllianceGenome:HGNC:30215
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    7A5; SH3BP4L
    Summary
    MACC1 is a key regulator of the hepatocyte growth factor (HGF; MIM 142409)-HGF receptor (HGFR, or MET; MIM 164860) pathway, which is involved in cellular growth, epithelial-mesenchymal transition, angiogenesis, cell motility, invasiveness, and metastasis. Expression of MACC1 in colon cancer (MIM 114500) specimens is an independent prognostic indicator for metastasis formation and metastasis-free survival (Stein et al., 2009 [PubMed 19098908]).[supplied by OMIM, Mar 2009]
    Expression
    Broad expression in small intestine (RPKM 6.2), duodenum (RPKM 5.1) and 17 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See MACC1 in Genome Data Viewer
    Location:
    7p21.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (20134655..20217384, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (20268945..20351674, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (20174278..20257007, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25685 Neighboring gene ribosomal protein L21 pseudogene 75 Neighboring gene uncharacterized LOC105375181 Neighboring gene NANOG hESC enhancer GRCh37_chr7:20156449-20156975 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:20159870-20160723 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:20160724-20161576 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:20164991-20165844 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:20165845-20166696 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17988 Neighboring gene MACC1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25687 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25688 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:20256832-20258031 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:20259517-20260046 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17989 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25691 Neighboring gene glutamine insufficiency regulator of glutaminase lncRNA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25692 Neighboring gene uncharacterized LOC101927769

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in positive regulation of cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    metastasis-associated in colon cancer protein 1
    Names
    MACC1, MET transcriptional regulator
    SH3 domain-containing protein 7a5
    metastasis associated in colon cancer 1
    putative binding protein 7a5

    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.

    mRNA and Protein(s)

    1. NM_182762.4NP_877439.3  metastasis-associated in colon cancer protein 1

      See identical proteins and their annotated locations for NP_877439.3

      Status: VALIDATED

      Source sequence(s)
      AC007001, AJ313524, AK131400, CB240872
      Consensus CDS
      CCDS5369.1
      UniProtKB/Swiss-Prot
      A8MUS5, B2RNR9, Q6ZN28, Q6ZQN8, Q7Z5A5
      Related
      ENSP00000383185.3, ENST00000400331.10
      Conserved Domains (2) summary
      cd01670
      Location:743818
      Death; Death Domain: a protein-protein interaction domain
      cl02517
      Location:218275
      ZU5; ZU5 domain

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      20134655..20217384 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      20268945..20351674 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)