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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MAST1 Gene

protein-coding   GIFtS: 52
GCID: GC19P012949

Microtubule Associated Serine/Threonine Kinase 1
  5 related diseases
at
MalaCards
 

Aliases
for MAST1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
Aliases
Microtubule Associated Serine/Threonine Kinase 11 2     SAST1702
SAST2 3 5     Microtubule-Associated Serine/Threonine-Protein Kinase 12
Syntrophin-Associated Serine/Threonine-Protein Kinase2 3     Syntrophin Associated Serine/Threonine Kinase2
EC 2.7.11.13 8     EC 2.7.118
KIAA09733 5     

External Ids:    HGNC: 190341   Entrez Gene: 229832   Ensembl: ENSG000001056137   OMIM: 6122565   UniProtKB: Q9Y2H93   

Export aliases for MAST1 gene to outside databases

Previous GC identifers: GC19U900423 GC19P012811 GC19P012520


Summaries
for MAST1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
GeneCards Summary for MAST1 Gene: 
MAST1 (microtubule associated serine/threonine kinase 1) is a protein-coding gene. Diseases associated with MAST1 include mastitis, and familial breast cancer. GO annotations related to this gene include protein serine/threonine kinase activity and magnesium ion binding. An important paralog of this gene is MAST2.

UniProtKB/Swiss-Prot: MAST1_HUMAN, Q9Y2H9
Function: Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins.
Phosphorylation of DMD or UTRN may modulate their affinities for associated proteins (By similarity)

Gene Wiki entry for MAST1 Gene


Genomic Views
for MAST1 gene

(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011295.11  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MAST1 gene promoter:
         c-Fos   Spz1   AP-1   MZF-1   POU2F1   POU2F1a   Chx10   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MAST1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MAST1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MAST1


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

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.2

MAST1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAST1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P012949:  view genomic region     (about GC identifiers)

Start:
 12,944,765 bp from pter      End:
 12,985,766 bp from pter
Size:
 41,002 bases      Orientation:
 plus strand

Proteins
for MAST1 gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
UniProtKB/Swiss-Prot: MAST1_HUMAN, Q9Y2H9 (See protein sequence)
Recommended Name: Microtubule-associated serine/threonine-protein kinase 1  
Size: 1570 amino acids; 170677 Da
Cofactor: Magnesium (By similarity)
Subunit: Part of a low affinity complex that associates with, but is distinct from, the postsynaptic density.
Interacts with SNTB2 (By similarity)
Subcellular location: Cell membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Cytoplasm,
cytoskeleton (By similarity). Note=Colocalizes with syntrophins at the cell membrane (By similarity)
Sequence caution: Sequence=AAB51171.1; Type=Erroneous gene model prediction; Sequence=AAH27985.2; Type=Erroneous
initiation; Sequence=BAA76817.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for MAST1:
3PS4 (3D)    
Secondary accessions: O00114 Q8N6X0

Explore the universe of human proteins at neXtProt for MAST1: NX_Q9Y2H9

Explore proteomics data for MAST1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y2H9

    • 4/47 DME Specific Peptides for MAST1 (Q9Y2H9) (see all 47)
     MFCSFET  RPRSRSL  KLTDFGL  SYRSTPD 

    MAST1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MAST1 Protein Expression
    REFSEQ proteins: NP_055790.1  
    ENSEMBL proteins: 
     ENSP00000466470   ENSP00000251472   ENSP00000465395   ENSP00000465187  

    Human Recombinant Protein Products for MAST1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for MAST1
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for MAST1
    GenScript Custom Purified and Recombinant Proteins Services for MAST1
    Novus Biologicals MAST1 Protein
    Novus Biologicals MAST1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MAST1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0005886plasma membrane IEA--
    GO:0016020membrane ----

    MAST1 for ontologies           About GeneDecksing



    MAST1 Antibody Products: 
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    Search for Antibodies for MAST1 at Abcam
    Cloud-Clone Corp. Antibodies for MAST1 
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    LSBio Antibodies in human, mouse, rat for MAST1 

    Assay Products for MAST1: 
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    Cloud-Clone Corp. ELISAs for MAST1 
    Cloud-Clone Corp. CLIAs for MAST1

    Protein Domains /
    Families
    for MAST1 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    		 IUPHAR Guide to PHARMACOLOGY protein family classification: Microtubule associated serine/threonine kinase 1 
    MAST family
    Other AGC kinases

    5/8 InterPro protein domains (see all 8):
     IPR002290 Ser/Thr_dual-sp_kinase_dom
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR015022 MA_Ser/Thr_Kinase_dom
     IPR000719 Prot_kinase_cat_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y2H9

    ProtoNet protein and cluster: Q9Y2H9

    2 Blocks protein domains:
    IPB000961 Protein kinase C-terminal domain
    IPB001478 PDZ/DHR/GLGF domain


    UniProtKB/Swiss-Prot: MAST1_HUMAN, Q9Y2H9
    Similarity: Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family
    Similarity: Contains 1 AGC-kinase C-terminal domain
    Similarity: Contains 1 PDZ (DHR) domain
    Similarity: Contains 1 protein kinase domain


    MAST1 for domains           About GeneDecksing


    Function
    for MAST1 gene

    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MAST1_HUMAN, Q9Y2H9
    Function: Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins.
    Phosphorylation of DMD or UTRN may modulate their affinities for associated proteins (By similarity)
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein

         Enzyme Numbers (IUBMB): EC 2.7.11.11 2 EC 2.7.112

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding ISS--
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity ISS--
    GO:0004713protein tyrosine kinase activity ----
    GO:0005515protein binding IPI--
         
    MAST1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for MAST1:
     Decreased substrate adherent c  Elongated cells 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MAST1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MAST1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MAST1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MAST1 

    miRNA
    Products:            		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MAST1
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate MAST1:
    hsa-miR-493* hsa-let-7g* hsa-let-7a-2* hsa-miR-3924
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MAST1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for MAST1
    Sirion Biotech Customized adenovirus for overexpression of MAST1

    Clone
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    OriGene clones in human, mouse for MAST1 (see all 7)
    OriGene ORF clones in mouse, rat for MAST1
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    GenScript: all cDNA clones in your preferred vector: MAST1 (NM_014975)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAST1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAST1

    Cell Line
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    Search LifeMap BioReagents cell lines for MAST1
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAST1


    Pathways & Interactions
    for MAST1 gene

    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MAST1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/37 Interacting proteins for MAST1 (Q9Y2H91, 3 ENSP000002514724) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EGFRP005331, 3, ENSP000002754934EBI-3385920,EBI-297353 I2D: score=2 STRING: ENSP00000275493
    ELAVL3Q145763, ENSP000003521624I2D: score=1 STRING: ENSP00000352162
    PTENP604843, ENSP000003610214I2D: score=1 STRING: ENSP00000361021
    SNTB2Q134253, ENSP000003381914I2D: score=3 STRING: ENSP00000338191
    SNTA1Q134243, ENSP000002173814I2D: score=1 STRING: ENSP00000217381
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468protein phosphorylation ISS--
    GO:0007010cytoskeleton organization ISS--
    GO:0007243intracellular protein kinase cascade ISS--

    MAST1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for MAST1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MAST1

    3 HMDB Compounds for MAST1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--

    Search CenterWatch for drugs/clinical trials and news about MAST1

    Transcripts
    for MAST1 gene

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for MAST1 gene: 
    NM_014975.2  

    Unigene Cluster for MAST1:

    Microtubule associated serine/threonine kinase 1
    Hs.227489  [show with all ESTs]
    Unigene Representative Sequence: NM_014975
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000591495 ENST00000590883 ENST00000251472(uc002mvm.3 uc021upp.1)
    ENST00000588379 ENST00000592713 ENST00000590204 ENST00000589040 ENST00000590553
    ENST00000585791
    miRNA
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    4 QIAGEN miScript miRNA Assays for microRNAs that regulate MAST1:
    hsa-miR-493* hsa-let-7g* hsa-let-7a-2* hsa-miR-3924
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MAST1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MAST1
    Clone
    Products:             		 OriGene clones in human, mouse for MAST1 (see all 7)
    OriGene ORF clones in mouse, rat for MAST1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MAST1 (NM_014975)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAST1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAST1
    Primer
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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MAST1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MAST1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MAST1

    Additional mRNA sequence: 

    AB023190.1 AK297553.1 BC017485.1 BC026709.1 BC027985.1 

    4 DOTS entries:

    DT.111657  DT.91644019  DT.97842203  DT.87046369 

    24/89 AceView cDNA sequences (see all 89):

    BI913022 NM_014975 CR609181 BC017485 BU628948 AB023190 BQ929571 BQ638586 
    BQ222625 CA398145 BQ639245 CD251272 BC027985 CA398146 CR622253 BX279911 
    BU171055 BM726659 BM712892 BM668037 BI757317 BE539862 BQ721496 AL134803 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for MAST1 (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
    SP1:                                      -           -                                               -                                                         
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                      -                                                                                                                     
    SP5:                                                  -                                                                                                         

    ExUns: 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25a · 25b ^ 26a · 26b
    SP1:  -                             -                     
    SP2:                                                      
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for MAST1

    Expression
    for MAST1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MAST1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MAST1 Expression
    About this image


    See MAST1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MAST1

    SOURCE GeneReport for Unigene cluster: Hs.227489
        SABiosciences Custom PCR Arrays for MAST1
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MAST1
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAST1

    Orthologs
    for MAST1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals and fungi.

    Orthologs for MAST1 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Mast11 , 5 microtubule associated serine/threonine kinase 11, 5 85.99(n)1
    94.52(a)1    		   8 (41.32 cM)5
    565271  NM_019945.21  NP_064329.21 
     849119035 
    lizard
    (Anolis carolinensis)    		 Reptilia MAST16
    		 Uncharacterized protein
    		 76(a)
    		 1 ↔ 1
    		 2(28679735-28854064)
    zebrafish
    (Danio rerio)    		 Actinopterygii mast11 microtubule associated serine/threonine kinase 1 70.79(n)
    79.56(a)    		   796739  XM_001337092.2  XP_001337128.2 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG64986
    		 --
    		 28(a)
    		 1 → many
    		 3L(15559113-15569413)
    worm
    (Caenorhabditis elegans)    		 Secernentea kin-46
    		 Protein KIN-4, isoform g
    		 28(a)
    		 possible ortholog
    		 IV(11425742-11447065)
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes KIN826
    FPK16
    		 Putative serine/threonine protein kinase implicate...
    Ser/Thr protein kinase that regulates the putative...
    		 25(a)
    20(a)
    		 many ↔ many
    many ↔ many
    		 III(274404-276566)
    XIV(708523-711204)


    ENSEMBL Gene Tree for MAST1 (if available)
    TreeFam Gene Tree for MAST1 (if available)

    Paralogs
    for MAST1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MAST1 gene
    MAST22  MAST32  MAST42  
    18/27 SIMAP similar genes for MAST1 using alignment to 4 protein entries:     MAST1_HUMAN (see all proteins) (see all similar genes):
    MAST4    MAST3    STK38L    RPS6KA2    RPS6KA3    MAST2
    PRKACA    SGK3    KIN27    PRKACB    PRKACG    PRKY
    PRKX    STK38    AKT1    AKT2    CIT    AKT3

    MAST1 for paralogs           About GeneDecksing



    Genomic Variants
    for MAST1 gene

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/780 SNPs in MAST1 are shown (see all 780)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    VAR_0407694
    		An ovarian serous carcinoma sample4--see VAR_0407692 H Y mis40--------
    VAR_0407684
    		A metastatic melanoma sample4--see VAR_0407682 A T mis40--------
    rs104240011,2
    		C,F,H--12948462(+) tgtttG/Aattta 1 -- us2k124Minor allele frequency- A:0.49NS EA NA WA CSA 2351
    rs358586681,2
    		C--12948572(+) GAAAC-/TTTTTT 1 -- us2k11Minor allele frequency- T:0.00CSA 2
    rs2007096951,2
    		C--12948572(+) GAAACC/TTTTTT 1 -- us2k10--------
    rs1476819301,2
    		--12948661(+) CAACCC/TCCCAA 1 -- us2k10--------
    rs1820610321,2
    		--12948815(+) ACACAC/TGCTGA 1 -- us2k10--------
    rs118832031,2
    		H--12948820(+) CGCTGA/GTATGC 1 -- us2k10--------
    rs1407208791,2
    		--12948825(+) ATATGC/TCAACT 1 -- us2k10--------
    rs773073031,2
    		C--12948837(+) ACTTGA/CCTTTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MAST1 (12944765 - 12985766 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for MAST1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2663622CNV Deletion23128226
    nsv2420CNV Insertion18451855
    nsv911082CNV Loss21882294
    nsv911084CNV Loss21882294
    nsv911083CNV Loss21882294
    dgv3733n71CNV Loss21882294

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    Disorders / Diseases
    for MAST1 gene

    (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.)
    About This Section
    		 OMIM gene information: 612256    OMIM disorders: --

    5 diseases for MAST1:    About MalaCards
    mastitis    familial breast cancer    rabies    breast cancer
    alzheimer's disease


    MAST1 for disorders           About GeneDecksing


    Export disorders for MAST1 gene to outside databases

    Publications
    for MAST1 gene

    (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)
    About This Section

    PubMed articles for MAST1 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with MAST1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    2. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
    3. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)1, 2 Nagase T.... Ohara O. (1999)
    4. Interactions between beta 2-syntrophin and a family of microtubule-associated serine/threonine kinases. (PubMed id 10404183)1, 9 Lumeng C....Chamberlain J.S. (1999)
    5. Sast124, a novel splice variant of syntrophin-associated serine/threonine kinase (SAST), is specifically localized in the restricted brain regions. (PubMed id 12614677)1, 9 Yano R....Hashikawa T. (2003)
    6. Interactome mapping suggests new mechanistic details u nderlying Alzheimer's disease. (PubMed id 21163940)1 Soler-Lopez M....Aloy P. (2011)
    7. Functionally recurrent rearrangements of the MAST kin ase and Notch gene families in breast cancer. (PubMed id 22101766)1 Robinson D.R....Chinnaiyan A.M. (2011)
    8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    9. Regulation of epidermal growth factor receptor traffi cking by lysine deacetylase HDAC6. (PubMed id 20029029)1 Deribe Y.L....Dikic I. (2009)
    10. Patterns of somatic mutation in human cancer genomes. (PubMed id 17344846)2 Greenman C.... Stratton M.R. (2007)

    External Searches for MAST1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing MAST1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 22983 HGNC: 19034 AceView: MAST1 Ensembl:ENSG00000105613 euGenes: HUgn22983
    ECgene: MAST1 H-InvDB: MAST1

    Other Databases showing MAST1 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA0973

    Specialized Databases showing MAST1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MAST1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for MAST1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for MAST1 gene:
    Search GeneIP for patents involving MAST1

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



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    About This Section

     
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