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

Gene ID: 346389, updated on 25-Mar-2019

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
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

Genomic context

See MACC1 in Genome Data Viewer
Location:
7p21.1
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (20134655..20217390, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (20174278..20257013, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927668 Neighboring gene ribosomal protein L21 pseudogene 75 Neighboring gene uncharacterized LOC105375181 Neighboring gene MACC1 antisense RNA 1 Neighboring gene uncharacterized LOC100506098 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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
positive regulation of cell division IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
regulation of signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
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)

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_182762.3NP_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
    Q6ZN28
    Related
    ENSP00000383185.3, ENST00000400331.9
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    20134655..20217390 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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