Human Gene MTUS1 (uc010lsz.3) Description and Page Index
  Description: Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.
RefSeq Summary (NM_001001924): This gene encodes a protein which contains a C-terminal domain able to interact with the angiotension II (AT2) receptor and a large coiled-coil region allowing dimerization. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. One of the transcript variants has been shown to encode a mitochondrial protein that acts as a tumor suppressor and partcipates in AT2 signaling pathways. Other variants may encode nuclear or transmembrane proteins but it has not been determined whether they also participate in AT2 signaling pathways. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr8:17,580,750-17,658,426 Size: 77,677 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr8:17,581,002-17,613,316 Size: 32,315 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:17,580,750-17,658,426)mRNA (may differ from genome)Protein (875 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMGIneXtProt
OMIMPubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: MTUS1_HUMAN
DESCRIPTION: RecName: Full=Microtubule-associated tumor suppressor 1; AltName: Full=AT2 receptor-binding protein; AltName: Full=Angiotensin-II type 2 receptor-interacting protein; AltName: Full=Mitochondrial tumor suppressor 1;
FUNCTION: Cooperates with AGTR2 to inhibit ERK2 activation and cell proliferation. May be required for AGTR2 cell surface expression. Together with PTPN6, induces UBE2V2 expression upon angiotensin-II stimulation. Isoform 1 inhibits breast cancer cell proliferation, delays the progression of mitosis by prolonging metaphase and reduces tumor growth.
SUBUNIT: Homodimer. Interacts with AGTR2. Interacts with PTPN6 (By similarity). Isoform 1 associates with microtubules.
SUBCELLULAR LOCATION: Mitochondrion. Golgi apparatus (By similarity). Cell membrane (By similarity). Nucleus (By similarity). Note=In neurons, translocates into the nucleus after treatment with angiotensin-II (By similarity).
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm, cytoskeleton, centrosome. Cytoplasm, cytoskeleton, spindle. Note=Localizes with the mitotic spindle during mitosis and with the intercellular bridge during cytokinesis.
TISSUE SPECIFICITY: Ubiquitously expressed (at protein level). Highly expressed in brain. Down-regulated in ovarian carcinoma, pancreas carcinoma, colon carcinoma and head and neck squamous cell carcinoma (HNSCC). Isoform 1 is the major isoform in most peripheral tissues. Isoform 2 is abundant in most peripheral tissues. Isoform 3 is the major isoform in brain, female reproductive tissues, thyroid and heart. Within brain it is highly expressed in corpus callosum and pons. Isoform 6 is brain- specific, it is the major isoform in cerebellum and fetal brain.
INDUCTION: Isoform 1 is down-regulated in invasive breast carcinomas (at protein level).
DISEASE: Defects in MTUS1 may be a cause of hepatocellular carcinoma (HCC) [MIM:114550].
SIMILARITY: Belongs to the MTUS1 family.
SEQUENCE CAUTION: Sequence=AAH07328.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH33842.1; Type=Erroneous initiation; Sequence=BAB14894.1; Type=Erroneous initiation;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MTUS1ID41451ch8p22.html";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MTUS1
CDC HuGE Published Literature: MTUS1
Positive Disease Associations: Apolipoproteins E , Cholesterol, HDL , Cholesterol, LDL , Myocardial Infarction
Related Studies:
  1. Apolipoproteins E
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  2. Cholesterol, HDL
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  3. Cholesterol, LDL
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: MTUS1
Diseases sorted by gene-association score: hepatocellular carcinoma* (95)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.73 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 222.18 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 -157.52474-0.332 Picture PostScript Text
3' UTR -50.80252-0.202 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
  ModBase Predicted Comparative 3D Structure on Q9ULD2
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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
  Cellular Component:
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005794 Golgi apparatus
GO:0005815 microtubule organizing center
GO:0005819 spindle
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0005886 plasma membrane
GO:0015630 microtubule cytoskeleton
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  LF208094 - JP 2014500723-A/15597: Polycomb-Associated Non-Coding RNAs.
LF213941 - JP 2014500723-A/21444: Polycomb-Associated Non-Coding RNAs.
AL096842 - Homo sapiens mRNA; cDNA DKFZp586D1519 (from clone DKFZp586D1519).
AB033114 - Homo sapiens mRNA for KIAA1288 protein, partial cds.
BC136320 - Homo sapiens mitochondrial tumor suppressor 1, mRNA (cDNA clone MGC:167930 IMAGE:9020307), complete cds.
BC171765 - Homo sapiens cDNA clone IMAGE:9054419, containing frame-shift errors.
AK304105 - Homo sapiens cDNA FLJ53273 complete cds, highly similar to Homo sapiens mitochondrial tumor suppressor 1 (MTUS1), transcript variant 2, mRNA.
BC007328 - Homo sapiens mitochondrial tumor suppressor 1, mRNA (cDNA clone IMAGE:3835953), partial cds.
AY363099 - Homo sapiens normal early placenta (NEP) mRNA, partial cds.
MA449518 - JP 2018138019-A/21444: Polycomb-Associated Non-Coding RNAs.
MA443671 - JP 2018138019-A/15597: Polycomb-Associated Non-Coding RNAs.
AK310871 - Homo sapiens cDNA, FLJ17913.
LF372111 - JP 2014500723-A/179614: Polycomb-Associated Non-Coding RNAs.
LF372115 - JP 2014500723-A/179618: Polycomb-Associated Non-Coding RNAs.
LF372116 - JP 2014500723-A/179619: Polycomb-Associated Non-Coding RNAs.
LF372117 - JP 2014500723-A/179620: Polycomb-Associated Non-Coding RNAs.
LF372118 - JP 2014500723-A/179621: Polycomb-Associated Non-Coding RNAs.
FJ458441 - Homo sapiens mitochondrial tumor suppressor 1 variant 1 (MTUS1) mRNA, 5' UTR; nuclear gene for mitochondrial product.
MA607688 - JP 2018138019-A/179614: Polycomb-Associated Non-Coding RNAs.
MA607692 - JP 2018138019-A/179618: Polycomb-Associated Non-Coding RNAs.
MA607693 - JP 2018138019-A/179619: Polycomb-Associated Non-Coding RNAs.
MA607694 - JP 2018138019-A/179620: Polycomb-Associated Non-Coding RNAs.
MA607695 - JP 2018138019-A/179621: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K135, AK310871, ATBP, ATIP, B2RBJ6, B3KWJ9, B9EGA1, D3DSP8, GK1, KIAA1288, MTSG1, MTUS1_HUMAN, NM_001001924, NP_001001924, Q63HJ6, Q659F4, Q6PK49, Q6URW7, Q8N4M6, Q8WTT9, Q9H7T2, Q9ULD2
UCSC ID: uc010lsz.3
RefSeq Accession: NM_001001924
Protein: Q9ULD2 (aka MTUS1_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK310871.1
exon count: 4CDS single in 3' UTR: no RNA size: 3355
ORF size: 2628CDS single in intron: no Alignment % ID: 99.91
txCdsPredict score: 5427.50frame shift in genome: no % Coverage: 99.97
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: 431# 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.