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MAST1 Gene(Protein Coding)

Microtubule Associated Serine/Threonine Kinase 1

GCID:
GC19P012834
GIFtS:
45
Genes Participants
UDN Logo

Aliases for MAST1 Gene

Aliases for MAST1 Gene

  • Microtubule Associated Serine/Threonine Kinase 1 2 3 5
  • Syntrophin-Associated Serine/Threonine-Protein Kinase 3 4
  • EC 2.7.11.1 4 56
  • SAST 3 4
  • Microtubule-Associated Serine/Threonine-Protein Kinase 1 3
  • Syntrophin Associated Serine/Threonine Kinase 3
  • EC 2.7.11 56
  • KIAA0973 4

External Ids for MAST1 Gene

Previous GeneCards Identifiers for MAST1 Gene

  • GC19U900423
  • GC19P012811
  • GC19P012949
  • GC19P012520

Summaries for MAST1 Gene

Entrez Gene Summary for MAST1 Gene

  • This gene is a member of the microtubule-associated serine/threonine kinase (MAST) family. The protein encoded by this gene has an N-terminal serine/threonine kinase domain followed by a postsynaptic density protein-95/discs large/zona occludens-1 (PDZ) domain. In mouse and rat, the orthologous protein associates with the cytoskeleton and can bind both beta-2-syntrophin and neuronal nitric oxide synthase (nNOS) through its PDZ domain. In mouse and rat, this protein also co-localizes with dystrophin- and utrophin-associated protein complexes (DAPC/UAPC) in the vascular endothelium of the central nervous system. [provided by RefSeq, May 2017]

GeneCards Summary for MAST1 Gene

MAST1 (Microtubule Associated Serine/Threonine Kinase 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is MAST2.

UniProtKB/Swiss-Prot for MAST1 Gene

  • 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

Additional gene information for MAST1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAST1 Gene

Genomics for MAST1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for MAST1 Gene

Promoters and enhancers for MAST1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH19I012838 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 550.8 +4.5 4530 0.3 RB1 ZNF335 EGR1 ZNF143 RCOR1 CREM EGR2 SMARCA5 REST ZNF398 RTBDN MAST1 GC19M012844 HOOK2
GH19I012833 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 550.8 +0.3 323 1 HDAC1 HDGF RB1 KLF17 NFXL1 ZNF335 GLIS2 EGR1 ATF7 EGR2 MAST1 RTBDN HOOK2
GH19I012832 Enhancer 1 ENCODE 550.8 -1.3 -1342 0.2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 MAST1 CCDC130 ZNF564 WDR83OS ZNF791 MRI1 ZNF700 ZNF44 TRMT1 ZNF799
GH19I012834 Enhancer 0.9 ENCODE 550.8 -1.6 -1572 0.1 ATF1 ARNT ARID4B SIN3A ZNF48 ZNF207 ZNF143 PAF1 ZNF263 NCOA1 MAST1 CCDC130 ZNF564 WDR83OS ZNF791 MRI1 ZNF700 ZNF44 TRMT1 ZNF799
GH19I012836 Enhancer 0.4 ENCODE 550.8 -0.4 -392 0.2 ZNF639 VEZF1 MAST1 RTBDN GC19M012828 HOOK2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MAST1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MAST1 gene promoter:

Genomic Locations for MAST1 Gene

Genomic Locations for MAST1 Gene
chr19:12,833,934-12,874,953
(GRCh38/hg38)
Size:
41,020 bases
Orientation:
Plus strand
chr19:12,944,765-12,985,766
(GRCh37/hg19)

Genomic View for MAST1 Gene

Genes around MAST1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAST1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAST1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MAST1 Gene

Proteins for MAST1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for MAST1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2H9-MAST1_HUMAN
    Recommended name:
    Microtubule-associated serine/threonine-protein kinase 1
    Protein Accession:
    Q9Y2H9
    Secondary Accessions:
    • O00114
    • Q8N6X0

    Protein attributes for MAST1 Gene

    Size:
    1570 amino acids
    Molecular mass:
    170677 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Part of a low affinity complex that associates with, but is distinct from, the postsynaptic density. Interacts with SNTB2 (By similarity).
    SequenceCaution:
    • Sequence=AAB51171.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAH27985.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA76817.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MAST1 Gene

neXtProt entry for MAST1 Gene

Protein Expression for MAST1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for MAST1 Gene

Q9Y2H9:
  • MMNHVYKERFPKATAQMEE
  • SYKAKMARR
  • PRYIIRQLGL
  • MFCSFET
  • AETVLALEYLH
  • LYEFLVGCVPFFGDTPEELFGQV
  • RPRSRSL
  • CSFETRRHLCMVMEYVEGGDCATL
  • CGTPEYIAPE
  • HIRPSTLHGL
  • ELARDCL
  • KRSSLFRKITKQ
  • DNEIVMMNHVY
  • DELHFLSKHF
  • KSAGNIPLSPLA
  • RSLSPGR
  • GKPVDWWA
  • RPARLLECLEF
  • PRSPLLKRVQS
  • EVVELILKSGNKVA
  • GHIKLTDFGLSK
  • IKLTDFG
  • KVIKSASATALS
  • WPEGDEALP
  • LLHTSRSLSSLNRSLSS
  • EVKQHSFF
  • GIVHRDLKPDN
  • KVYSSME
  • LHQLPYQPT
  • FVERDILTFAENPFVV
  • LLEAAEGHAKEG
  • RFSKVYSS
  • SPLASPMSP
  • RHLCMVMEYVEGGDCATLLKNIGALPV
  • LTDFGLSK
  • KLTDFGL
  • DGRRWSLASLPSSGYGTNTPSSTVSSSCSSQE
  • SYRSTPD
  • TIKLISNGAYGAVYLVRHRDTRQRFA
  • LSFIHHQ
  • TTTPFENTSI
  • LPRPHSPL
  • GHIKLTD
  • LDWTGLLRQKAEFIP
  • NLEKLLQDA
  • VHRDLKP
  • IVHRDLK

Post-translational modifications for MAST1 Gene

No Post-translational modifications

Other Protein References for MAST1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MAST1 Gene

Gene Families for MAST1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MAST1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MAST1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y2H9

UniProtKB/Swiss-Prot:

MAST1_HUMAN :
  • Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.
Family:
  • Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.
genes like me logo Genes that share domains with MAST1: view

Function for MAST1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for MAST1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot 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).

Enzyme Numbers (IUBMB) for MAST1 Gene

Phenotypes From GWAS Catalog for MAST1 Gene

Gene Ontology (GO) - Molecular Function for MAST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding ISS,IEA --
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA,ISS --
GO:0005515 protein binding IPI 20029029
GO:0005524 ATP binding IEA,ISS --
genes like me logo Genes that share ontologies with MAST1: view
genes like me logo Genes that share phenotypes with MAST1: view

Animal Model Products

miRNA for MAST1 Gene

miRTarBase miRNAs that target MAST1

Clone Products

  • Addgene plasmids for MAST1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MAST1 Gene

Localization for MAST1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAST1 Gene

Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Note=Colocalizes with syntrophins at the cell membrane. {ECO:0000250}.

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 MAST1 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 3
cytosol 3
nucleus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MAST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA,IEA --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MAST1: view

Pathways & Interactions for MAST1 Gene

SuperPathways for MAST1 Gene

PathCards logo More details on SuperPathways for MAST1
No Data Available

SIGNOR curated interactions for MAST1 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for MAST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation ISS,IEA --
GO:0007010 cytoskeleton organization ISS,IEA --
GO:0016310 phosphorylation IEA --
GO:0018105 peptidyl-serine phosphorylation IBA --
GO:0035556 intracellular signal transduction ISS,IEA --
genes like me logo Genes that share ontologies with MAST1: view

No data available for Pathways by source for MAST1 Gene

Drugs & Compounds for MAST1 Gene

Products:

  1. Drug

(2) Drugs for MAST1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved Nutra 0
ATP Investigational Nutra Agonist 0

(1) Additional Compounds for MAST1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
 Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with MAST1: view

Transcripts for MAST1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MAST1 Gene

(4) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(89) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MAST1 Gene

Microtubule associated serine/threonine kinase 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for MAST1

Alternative Splicing Database (ASD) splice patterns (SP) for MAST1 Gene

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: -
SP6: -
SP7:
SP8:

ExUns: 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25a · 25b ^ 26a · 26b
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for MAST1 Gene

GeneLoc Exon Structure for
MAST1
ECgene alternative splicing isoforms for
MAST1

Expression for MAST1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MAST1 Gene

mRNA expression in normal human tissues for MAST1 Gene
mRNA expression by BioGPS for MAST1 GenemRNA expression by GTEx for MAST1 Gene

mRNA differential expression in normal tissues according to GTEx for MAST1 Gene

This gene is overexpressed in Brain - Cerebellum (x9.6), Brain - Cerebellar Hemisphere (x9.0), Brain - Cortex (x6.4), and Brain - Frontal Cortex (BA9) (x4.5).

Protein differential expression in normal tissues from HIPED for MAST1 Gene

This gene is overexpressed in Serum (47.6), Fetal Brain (11.1), and Frontal cortex (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MAST1 Gene



Protein tissue co-expression partners for MAST1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MAST1 Gene:

MAST1

SOURCE GeneReport for Unigene cluster for MAST1 Gene:

Hs.227489

Evidence on tissue expression from TISSUES for MAST1 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with MAST1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAST1 Gene

Orthologs for MAST1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MAST1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia MAST1 33 34
  • 98.68 (n)
dog
(Canis familiaris)
 Mammalia -- 34
  • 95 (a)
 OneToMany
-- 34
  • 94 (a)
 OneToMany
MAST1 33
  • 88.81 (n)
cow
(Bos Taurus)
 Mammalia MAST1 33 34
  • 89.32 (n)
oppossum
(Monodelphis domestica)
 Mammalia MAST1 34
  • 88 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia MAST1 34
  • 88 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Mast1 33 16 34
  • 85.99 (n)
rat
(Rattus norvegicus)
 Mammalia MAST1 33
  • 85.57 (n)
lizard
(Anolis carolinensis)
 Reptilia MAST1 34
  • 77 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia mast1 33
  • 67.75 (n)
zebrafish
(Danio rerio)
 Actinopterygii mast1a 33 34
  • 71 (n)
mast1b 34
  • 65 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta CG6498 34
  • 30 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea kin-4 34
  • 30 (a)
 OneToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes KIN82 34
  • 27 (a)
 ManyToMany
FPK1 34
  • 24 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 43 (a)
 OneToMany
Species where no ortholog for MAST1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • 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)
  • 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)

Evolution for MAST1 Gene

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

Paralogs for MAST1 Gene

Paralogs for MAST1 Gene

(27) SIMAP similar genes for MAST1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with MAST1: view

Variants for MAST1 Gene

Sequence variations from dbSNP and Humsavar for MAST1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
VAR_040768 A metastatic melanoma sample p.Ala269Thr
VAR_040769 An ovarian serous carcinoma sample p.His1240Tyr
rs878853165 likely-pathogenic, not provided 12,843,558(+) C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs1000101137 -- 12,855,013(+) T/G genic_upstream_transcript_variant, intron_variant
rs1000101908 -- 12,873,257(+) G/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MAST1 Gene

Variant ID Type Subtype PubMed ID
esv2663622 CNV deletion 23128226
esv3643714 CNV loss 21293372
nsv1153883 CNV duplication 26484159
nsv2420 CNV insertion 18451855
nsv953977 CNV deletion 24416366

Variation tolerance for MAST1 Gene

Residual Variation Intolerance Score: 1.29% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.34; 26.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAST1 Gene

Human Gene Mutation Database (HGMD)
MAST1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAST1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAST1 Gene

Disorders for MAST1 Gene

Additional Disease Information for MAST1

ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for MAST1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MAST1 Gene

Publications for MAST1 Gene

  1. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. Sast124, a novel splice variant of syntrophin-associated serine/threonine kinase (SAST), is specifically localized in the restricted brain regions. (PMID: 12614677) Yano R … Hashikawa T (Neuroscience 2003) 3 22 58
  4. Interactions between beta 2-syntrophin and a family of microtubule-associated serine/threonine kinases. (PMID: 10404183) Lumeng C … Chamberlain JS (Nature neuroscience 1999) 3 22 58
  5. 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. (PMID: 10231032) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 3 4 58

Products for MAST1 Gene

  • Addgene plasmids for MAST1

Sources for MAST1 Gene

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