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MAMSTR Gene

protein-coding   GIFtS: 42
GCID: GC19M049216

MEF2 Activating Motif And SAP Domain Containing Transcriptional...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
MEF2 Activating Motif And SAP Domain Containing Transcriptional
Regulator1 2
MASTR2 3 5
MEF2-Activating SAP Transcriptional Regulator1 2
MEF2-Activating SAP Transcriptional Regulatory Protein2 3
Likely Ortholog Of MEF2-Activating SAP Transcriptional Regulator2
MEF2-Activating Motif And SAP Domain-Containing Transcriptional Regulator2

External Ids:    HGNC: 266891   Entrez Gene: 2843582   Ensembl: ENSG000001769097   OMIM: 6103495   UniProtKB: Q6ZN013   

Export aliases for MAMSTR gene to outside databases

Previous GC identifers: GC19M053909 GC19M045595


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MAMSTR Gene:
MAMSTR (MEF2 activating motif and SAP domain containing transcriptional regulator) is a protein-coding gene. Diseases associated with MAMSTR include substance abuse, and multiple sclerosis. GO annotations related to this gene include RNA polymerase II transcription factor binding transcription factor activity and nucleic acid binding.

UniProtKB/Swiss-Prot: MASTR_HUMAN, Q6ZN01
Function: Transcriptional coactivator. Stimulates the transcriptional activity of MEF2C. Stimulates MYOD1 activity
in part via MEF2, resulting in an enhancement of skeletal muscle differentiation (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NT_011109.17  NC_018930.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for MAMSTR
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for MAMSTR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAMSTR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.33   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.33

MAMSTR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAMSTR gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M049216:  view genomic region     (about GC identifiers)

Start:
49,215,999 bp from pter      End:
49,222,978 bp from pter
Size:
6,980 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MASTR_HUMAN, Q6ZN01 (See protein sequence)
Recommended Name: MEF2-activating motif and SAP domain-containing transcriptional regulator  
Size: 415 amino acids; 44632 Da
Subunit: Interacts with MEF2C (By similarity)
Secondary accessions: B7ZKX4 Q3KQU9 Q8N9Y3
Alternative splicing: 3 isoforms:  Q6ZN01-1   Q6ZN01-2   Q6ZN01-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MAMSTR: NX_Q6ZN01

Explore proteomics data for MAMSTR at MOPED


See MAMSTR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001124387.1  NP_872380.1  

ENSEMBL proteins: 
 ENSP00000324175   ENSP00000349192   ENSP00000471590   ENSP00000469544   ENSP00000469127  
 ENSP00000393801   ENSP00000366584  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR003034 SAP_dom

Graphical View of Domain Structure for InterPro Entry Q6ZN01

ProtoNet protein and cluster: Q6ZN01

1 Blocks protein domain: IPB003034 DNA-binding SAP

UniProtKB/Swiss-Prot: MASTR_HUMAN, Q6ZN01
Similarity: Contains 1 SAP domain


MAMSTR for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: MASTR_HUMAN, Q6ZN01
Function: Transcriptional coactivator. Stimulates the transcriptional activity of MEF2C. Stimulates MYOD1 activity
in part via MEF2, resulting in an enhancement of skeletal muscle differentiation (By similarity)

     Gene Ontology (GO): 3 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001076RNA polymerase II transcription factor binding transcription factor activity IEA--
GO:0003676nucleic acid binding IEA--
GO:0005515protein binding ----
     
MAMSTR for ontologies           About GeneDecksing


Phenotypes:
     4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mamstr):
 cellular  growth/size/body  mortality/aging  muscle 

MAMSTR for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Mamstrtm1.2Eno for MAMSTR

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
MASTR_HUMAN, Q6ZN01: Nucleus (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus3
cytosol2
mitochondrion1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IEA--

MAMSTR for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MAMSTR
Interactions:

    Search GeneGlobe Interaction Network for MAMSTR

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for MAMSTR (Q6ZN013 ENSP000003241754) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
MYOCDQ8IZQ83, ENSP000003418354I2D: score=1 STRING: ENSP00000341835
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Gene Ontology (GO): 3 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006366transcription from RNA polymerase II promoter ----
GO:0010831positive regulation of myotube differentiation IEA--
GO:0045944positive regulation of transcription from RNA polymerase II promoter IEA--

MAMSTR for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for MAMSTR (MASTR)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for MAMSTR gene (2 alternative transcripts): 
NM_001130915.1  NM_182574.2  

Unigene Cluster for MAMSTR:

MEF2 activating motif and SAP domain containing transcriptional regulator
Hs.191815  [show with all ESTs]
Unigene Representative Sequence: AK093389
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000318083(uc002pkg.2) ENST00000356751(uc002pkf.2) ENST00000594582
ENST00000599703 ENST00000595591 ENST00000419611 ENST00000377367
miRNA
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6 qRT-PCR Assays for microRNAs that regulate MAMSTR:
hsa-miR-424 hsa-miR-15a hsa-miR-195 hsa-miR-497 hsa-miR-16 hsa-miR-15b
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
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  QuantiFast Probe-based Assays in human, mouse, rat MAMSTR

Additional mRNA sequence: 

AK093389.1 AK131427.1 BC105056.1 BC105058.1 BC106047.1 BC143443.1 

6 DOTS entries:

DT.99939957  DT.302669  DT.95179369  DT.100836677  DT.97824546  DT.40211898 

Selected AceView cDNA sequences (see all 26):

BQ082086 BX280379 AA323136 AK093389 CA417466 BQ773031 BQ081916 NM_182574 
BM475027 BM973739 BF306260 AX748093 AK131427 BI761224 AA610125 AA679911 
BX460086 BF792875 BI830703 BG748885 BX431575 BU536747 BF872007 BX431574 

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for MAMSTR    About this scheme

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9
SP1:                                                                                          
SP2:              -     -           -     -                                                   
SP3:                                -                                                         


ECgene alternative splicing isoforms for MAMSTR

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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MAMSTR expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
MAMSTR Expression
About this image

MAMSTR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

MAMSTR Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.191815

UniProtKB/Swiss-Prot: MASTR_HUMAN, Q6ZN01
Tissue specificity: Expressed in skeletal muscle, brain, placenta and spleen

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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of human and mouse.

Orthologs for MAMSTR gene from Selected species (see all 6)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Mamstr1 , 5 MEF2 activating motif and SAP domain containing transcriptional more1, 5 79.17(n)1
78.19(a)1
  7 (29.40 cM)5
744901  NM_172418.21  NP_766006.21 
 456399775 


ENSEMBL Gene Tree for MAMSTR (if available)
TreeFam Gene Tree for MAMSTR (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for MAMSTR (see all 160)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1894769801,2
--49215851(+) TTTTTG/TTTTGT 2 -- ds50010--------
rs1170627441,2
C,F--49215853(+) TTTTTT/GTGTGT 2 -- ds50011Minor allele frequency- G:0.05EA 120
rs1819559161,2
--49215865(+) TGTGTG/TTTTGG 2 -- ds50010--------
rs1856611341,2
--49215959(+) GCTGGA/GATCGC 2 -- ds50010--------
rs1453698361,2
C--49216033(+) TCTCAC/GGCTCT 2 -- ds50010--------
rs2042481,2
C,F,A--49216224(+) GGGTCG/CGGGGC 2 -- ds50016Minor allele frequency- C:0.46NA WA EA 364
rs1896264871,2
--49216313(+) CAACCA/GTACCA 2 -- ut310--------
rs1488473621,2
--49216323(+) ACGCCA/GGAGGG 2 -- ut310--------
rs1815249991,2
--49216330(+) AGGGGA/GATCAT 2 -- ut310--------
rs1862209361,2
C--49216472(+) ACAAGA/GAGCTT 2 -- ut310--------

HapMap Linkage Disequilibrium report for MAMSTR (49215999 - 49222978 bp)

Structural Variations
     Database of Genomic Variants (DGV) 8 variations for MAMSTR:    About this table    
Variant IDTypeSubtypePubMed ID
dgv3967n71CNV Loss21882294
dgv3968n71CNV Loss21882294
nsv912237CNV Loss21882294
nsv912239CNV Loss21882294
nsv912242CNV Loss21882294
nsv912236CNV Gain21882294
nsv912238CNV Gain21882294
nsv9739CNV Gain+Loss18304495

Site Specific Mutation Identification with PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 610349    OMIM disorders: --

3 diseases for MAMSTR:    About MalaCards
substance abuse    multiple sclerosis    bipolar disorder


MAMSTR for disorders           About GeneDecksing


Export disorders for MAMSTR gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for MAMSTR gene integrated from 10 sources:
(articles sorted by number of sources associating them with MAMSTR)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Coactivation of MEF2 by the SAP domain proteins myocardin and MASTR. (PubMed id 16818234)1, 2, 3 Creemers E.E.... Olson E.N. (Mol. Cell 2006)
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  3. Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. (PubMed id 23449627)1 Cousminer D.L....WidAcn E. (Hum. Mol. Genet. 2013)
  4. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (PubMed id 21926972)1 (Nat. Genet. 2011)
  5. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. (PubMed id 21833088)1  ....Compston A. (Nature 2011)
  6. Biological, clinical and population relevance of 95 loci for blood lipids. (PubMed id 20686565)1 Teslovich T.M....Kathiresan S. (Nature 2010)
  7. Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. (PubMed id 21060863)1 Ikram M.K....Wong T.Y. (PLoS Genet. 2010)
  8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 284358 HGNC: 26689 AceView: FLJ36070 Ensembl:ENSG00000176909 euGenes: HUgn284358
ECgene: MAMSTR H-InvDB: MAMSTR

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for MAMSTR Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for MAMSTR gene:
Search GeneIP for patents involving MAMSTR

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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