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Aliases for MACC1 Gene

Aliases for MACC1 Gene

  • MACC1, MET Transcriptional Regulator 2 3 5
  • Metastasis Associated In Colon Cancer 1 2 3
  • SH3 Domain-Containing Protein 7a5 3 4
  • Metastasis-Associated In Colon Cancer Protein 1 3
  • Putative Binding Protein 7a5 3
  • SH3BP4L 3
  • 7A5 3

External Ids for MACC1 Gene

Summaries for MACC1 Gene

Entrez Gene Summary for MACC1 Gene

  • 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]

GeneCards Summary for MACC1 Gene

MACC1 (MACC1, MET Transcriptional Regulator) is a Protein Coding gene. Diseases associated with MACC1 include Renal Pelvis Carcinoma and Klatskin's Tumor. GO annotations related to this gene include growth factor activity. An important paralog of this gene is SH3BP4.

UniProtKB/Swiss-Prot for MACC1 Gene

  • Acts as a transcription activator for MET and as a key regulator of HGF-MET signaling. Promotes cell motility, proliferation and hepatocyte growth factor (HGF)-dependent scattering in vitro and tumor growth and metastasis in vivo.

Additional gene information for MACC1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MACC1 Gene

Genomics for MACC1 Gene

Regulatory Elements for MACC1 Gene

Enhancers for MACC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H020236 1.7 FANTOM5 Ensembl ENCODE dbSUPER 15.5 -20.5 -20465 3 PKNOX1 ATF1 TCF12 ZNF143 ATF7 RUNX3 JUNB REST ZNF592 MEF2D MACC1 LOC100506098 LOC101927769
GH07H020305 1.5 FANTOM5 Ensembl ENCODE 11.8 -89.5 -89527 2 HDGF YBX1 BMI1 RARA CHAMP1 TCF12 GATA2 SMARCB1 MBD2 SMARCA4 MACC1 LOC100506098 LOC101927769 ITGB8
GH07H020214 1.8 FANTOM5 ENCODE dbSUPER 8.7 -0.7 -749 8 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF766 TWISTNB MACC1 LOC101927769
GH07H020240 1.2 Ensembl ENCODE 12.6 -23.9 -23929 2 HDGF PKNOX1 BMI1 FEZF1 BATF RAD21 ZEB1 ZNF207 ATF7 ETV6 MACC1 LOC100506098 LOC101927769
GH07H020192 0.9 Ensembl ENCODE 12.9 +23.8 23840 2 PKNOX1 ZNF687 BACH1 CEBPB ATF2 IKZF1 ATF7 FOS RUNX3 IKZF2 MACC1 LOC100506098 MACC1-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MACC1 on UCSC Golden Path with GeneCards custom track

Promoters for MACC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000209215 104 201 ARNT ETS1 ZNF766 ELK1 ZNF143 ATF7 RUNX3 ZNF592 MBD2 SMARCA4

Genomic Location for MACC1 Gene

Chromosome:
7
Start:
20,134,655 bp from pter
End:
20,217,404 bp from pter
Size:
82,750 bases
Orientation:
Minus strand

Genomic View for MACC1 Gene

Genes around MACC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MACC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MACC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MACC1 Gene

Proteins for MACC1 Gene

  • Protein details for MACC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZN28-MACC1_HUMAN
    Recommended name:
    Metastasis-associated in colon cancer protein 1
    Protein Accession:
    Q6ZN28
    Secondary Accessions:
    • A8MUS5
    • B2RNR9
    • Q6ZQN8
    • Q7Z5A5

    Protein attributes for MACC1 Gene

    Size:
    852 amino acids
    Molecular mass:
    96639 Da
    Quaternary structure:
    • Interacts with FASLG.
    SequenceCaution:
    • Sequence=BAC87646.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAW93719.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for MACC1 Gene

Post-translational modifications for MACC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MACC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MACC1 Gene

Domains & Families for MACC1 Gene

Gene Families for MACC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MACC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MACC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MACC1: view

No data available for UniProtKB/Swiss-Prot for MACC1 Gene

Function for MACC1 Gene

Molecular function for MACC1 Gene

UniProtKB/Swiss-Prot Function:
Acts as a transcription activator for MET and as a key regulator of HGF-MET signaling. Promotes cell motility, proliferation and hepatocyte growth factor (HGF)-dependent scattering in vitro and tumor growth and metastasis in vivo.

Phenotypes From GWAS Catalog for MACC1 Gene

Gene Ontology (GO) - Molecular Function for MACC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 19098908
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IDA 19098908
GO:0008083 growth factor activity IEA --
genes like me logo Genes that share ontologies with MACC1: view

Phenotypes for MACC1 Gene

GenomeRNAi human phenotypes for MACC1:
genes like me logo Genes that share phenotypes with MACC1: view

Animal Model Products

CRISPR Products

miRNA for MACC1 Gene

miRTarBase miRNAs that target MACC1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MACC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MACC1 Gene

Localization for MACC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MACC1 Gene

Cytoplasm. Nucleus. Note=Mainly found in the cytoplasm in non-metastasizing tumors.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MACC1 gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MACC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IBA --
GO:0005739 mitochondrion IDA --
genes like me logo Genes that share ontologies with MACC1: view

Pathways & Interactions for MACC1 Gene

SuperPathways for MACC1 Gene

No Data Available

Interacting Proteins for MACC1 Gene

Selected Interacting proteins: Q6ZN28-MACC1_HUMAN for MACC1 Gene via IID

Symbol External ID(s) Details
EGFR
FASLG

Gene Ontology (GO) - Biological Process for MACC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IDA 19098908
GO:0051781 positive regulation of cell division IEA --
genes like me logo Genes that share ontologies with MACC1: view

No data available for Pathways by source and SIGNOR curated interactions for MACC1 Gene

Drugs & Compounds for MACC1 Gene

No Compound Related Data Available

Transcripts for MACC1 Gene

mRNA/cDNA for MACC1 Gene

Unigene Clusters for MACC1 Gene

Metastasis associated in colon cancer 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MACC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for MACC1 Gene

No ASD Table

Relevant External Links for MACC1 Gene

GeneLoc Exon Structure for
MACC1
ECgene alternative splicing isoforms for
MACC1

Expression for MACC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MACC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MACC1 Gene

This gene is overexpressed in Minor Salivary Gland (x6.5) and Esophagus - Mucosa (x5.4).

Protein differential expression in normal tissues from HIPED for MACC1 Gene

This gene is overexpressed in Plasma (47.8) and Liver, secretome (18.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MACC1 Gene



Protein tissue co-expression partners for MACC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MACC1 Gene:

MACC1

SOURCE GeneReport for Unigene cluster for MACC1 Gene:

Hs.598388

mRNA Expression by UniProt/SwissProt for MACC1 Gene:

Q6ZN28-MACC1_HUMAN
Tissue specificity: Preferentially expressed in metastasizing tumors.

Evidence on tissue expression from TISSUES for MACC1 Gene

  • Lung(4.1)
  • Intestine(3.4)
genes like me logo Genes that share expression patterns with MACC1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MACC1 Gene

Orthologs for MACC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MACC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MACC1 33 34
  • 99.41 (n)
dog
(Canis familiaris)
Mammalia MACC1 33 34
  • 87.66 (n)
cow
(Bos Taurus)
Mammalia MACC1 33 34
  • 87.21 (n)
mouse
(Mus musculus)
Mammalia Macc1 33 16 34
  • 81.86 (n)
rat
(Rattus norvegicus)
Mammalia Macc1 33
  • 81.25 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MACC1 34
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MACC1 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves MACC1 33 34
  • 68.66 (n)
lizard
(Anolis carolinensis)
Reptilia MACC1 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia macc1 33
  • 64.11 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32836 33
zebrafish
(Danio rerio)
Actinopterygii macc1 33 34
  • 56.06 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1683 34
  • 28 (a)
OneToMany
Species where no ortholog for MACC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MACC1 Gene

ENSEMBL:
Gene Tree for MACC1 (if available)
TreeFam:
Gene Tree for MACC1 (if available)

Paralogs for MACC1 Gene

Paralogs for MACC1 Gene

(1) SIMAP similar genes for MACC1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MACC1: view

Variants for MACC1 Gene

Sequence variations from dbSNP and Humsavar for MACC1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000009848 -- 20,174,556(+) ATACA(A/G)CTTGC intron-variant
rs1000031507 -- 20,210,298(+) AATAT(C/T)TTCCA intron-variant
rs1000036353 -- 20,135,665(+) GCTGC(C/T)GAAGT intron-variant, utr-variant-3-prime
rs1000050571 -- 20,205,834(+) GCAGA(A/C)CTGTA intron-variant
rs1000079844 -- 20,175,859(+) TAGAA(C/G)TATTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MACC1 Gene

Variant ID Type Subtype PubMed ID
esv2734100 CNV deletion 23290073
esv2734101 CNV deletion 23290073
esv3571690 CNV loss 25503493
nsv1015245 CNV loss 25217958
nsv1019427 CNV loss 25217958
nsv472968 CNV novel sequence insertion 20440878
nsv520265 CNV loss 19592680
nsv5650 CNV insertion 18451855
nsv606364 CNV loss 21841781
nsv830919 CNV loss 17160897
nsv950814 CNV duplication 24416366

Variation tolerance for MACC1 Gene

Residual Variation Intolerance Score: 97.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.42; 90.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MACC1 Gene

Human Gene Mutation Database (HGMD)
MACC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MACC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MACC1 Gene

Disorders for MACC1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MACC1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
renal pelvis carcinoma
  • carcinoma of kidney pelvis
klatskin's tumor
  • hilar cholangiocarcinoma
- elite association - COSMIC cancer census association via MalaCards
Search MACC1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MACC1

Genetic Association Database (GAD)
MACC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MACC1
genes like me logo Genes that share disorders with MACC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MACC1 Gene

Publications for MACC1 Gene

  1. Differential role of MACC1 expression and its regulation of the HGF/c‑Met pathway between breast and colorectal cancer. (PMID: 25738887) Sueta A … Iwase H (International journal of oncology 2015) 2 3 60
  2. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PMID: 19807924) Voss M … Janssen O (BMC immunology 2009) 3 4 60
  3. MACC1, a newly identified key regulator of HGF-MET signaling, predicts colon cancer metastasis. (PMID: 19098908) Stein U … Schlag PM (Nature medicine 2009) 3 4 60
  4. MACC1 mediates chemotherapy sensitivity of 5-FU and cisplatin via regulating MCT1 expression in gastric cancer. (PMID: 28235486) Wang C … Shi M (Biochemical and biophysical research communications 2017) 3 60
  5. MACC1 decreases the chemosensitivity of gastric cancer cells to oxaliplatin by regulating FASN expression. (PMID: 28339092) Duan J … Liao W (Oncology reports 2017) 3 60

Products for MACC1 Gene

Sources for MACC1 Gene

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