Human Gene MACC1 (uc003sus.4) Description and Page Index
  Description: Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.
RefSeq Summary (NM_182762): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK131400.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr7:20,174,279-20,257,013 Size: 82,735 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr7:20,180,569-20,201,485 Size: 20,917 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:20,174,279-20,257,013)mRNA (may differ from genome)Protein (852 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: MACC1_HUMAN
DESCRIPTION: RecName: Full=Metastasis-associated in colon cancer protein 1; AltName: Full=SH3 domain-containing protein 7a5;
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.
SUBUNIT: Interacts with FASLG.
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Mainly found in the cytoplasm in non-metastasizing tumors.
TISSUE SPECIFICITY: Preferentially expressed in metastasizing tumors.
SIMILARITY: Contains 1 SH3 domain.
SEQUENCE CAUTION: Sequence=BAC87646.1; Type=Erroneous initiation; Sequence=EAW93719.1; Type=Erroneous gene model prediction;

-  MalaCards Disease Associations
  MalaCards Gene Search: MACC1
Diseases sorted by gene-association score: renal pelvis carcinoma (23), klatskin's tumor (23)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.01 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 39.30 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -67.60309-0.219 Picture PostScript Text
3' UTR -1899.726290-0.302 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011511 - SH3_2
IPR001452 - SH3_domain

Pfam Domains:
PF00791 - ZU5 domain

ModBase Predicted Comparative 3D Structure on Q6ZN28
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0008083 growth factor activity

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0010469 regulation of receptor activity
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0051781 positive regulation of cell division

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion


-  Descriptions from all associated GenBank mRNAs
  AK128850 - Homo sapiens cDNA FLJ46632 fis, clone TRACH2024730, weakly similar to Homo sapiens SH3-domain binding protein 4 (SH3BP4).
AK131400 - Homo sapiens cDNA FLJ16493 fis, clone CTONG3004550, weakly similar to Homo sapiens SH3-domain binding protein 4 (SH3BP4).
BC137090 - Homo sapiens metastasis associated in colon cancer 1, mRNA (cDNA clone MGC:168710 IMAGE:9021087), complete cds.
BC144470 - Homo sapiens cDNA clone IMAGE:9052997, containing frame-shift errors.
AJ313524 - Homo sapiens mRNA for putative binding protein 7a5 (7A5 gene).
KJ896108 - Synthetic construct Homo sapiens clone ccsbBroadEn_05502 MACC1 gene, encodes complete protein.
AL359055 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 2344436.
AF086401 - Homo sapiens full length insert cDNA clone ZD75H06.

-  Other Names for This Gene
  Alternate Gene Symbols: A8MUS5, B2RNR9, MACC1_HUMAN, NM_182762, NP_877439, Q6ZN28, Q6ZQN8, Q7Z5A5
UCSC ID: uc003sus.4
RefSeq Accession: NM_182762
Protein: Q6ZN28 (aka MACC1_HUMAN)
CCDS: CCDS5369.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_182762.3
exon count: 7CDS single in 3' UTR: no RNA size: 9167
ORF size: 2559CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5139.00frame shift in genome: no % Coverage: 99.90
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.