MAST1 (microtubule associated serine/threonine kinase 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 22983
Gene name Microtubule associated serine/threonine kinase 1
Gene symbol MAST1
Synonyms (NCBI Gene)
MCCCHCMSAST
Chromosome 19
Chromosome location 19p13.13
Summary 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) d
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs878853165 C>T Likely-pathogenic Missense variant, coding sequence variant
rs1323140691 G>A Likely-pathogenic Missense variant, coding sequence variant
rs1568408280 GAG>- Pathogenic Coding sequence variant, inframe deletion
rs1568413207 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT017887 hsa-miR-335-5p Microarray 18185580
MIRT019332 hsa-miR-148b-3p Microarray 17612493
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (39)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding IEA
GO:0000287 Function Magnesium ion binding ISS
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
612256 19034 ENSG00000105613
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y2H9
Protein name Microtubule-associated serine/threonine-protein kinase 1 (EC 2.7.11.1) (Syntrophin-associated serine/threonine-protein kinase)
Protein function Microtubule-associated protein essential for correct brain development (PubMed:30449657). Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins. Phosphorylation of DMD or UTRN may modulate their affinitie
PDB 2M9X , 3PS4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08926 DUF1908 61 → 337 Domain of unknown function (DUF1908) Domain
PF00069 Pkinase 374 → 647 Protein kinase domain Domain
PF17820 PDZ_6 1000 → 1052 PDZ domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in fetal brain. {ECO:0000269|PubMed:30449657}.
Sequence 
MSDSLWTALSNFSMPSFPGGSMFRRTKSCRTSNRKSLILTSTSPTLPRPHSPLPGHLGSS
PLDSPRNFSPNTPAHFSFASSRRADGRRWSLASLPSSGYGTNTPSSTVSSSCSSQERLHQ
LPYQPTVDELHFLSKHFGSTESITDEDGGRRSPAVRPRSRSLSPGRSPSSYDNEIVMMNH
VYKERFPKATAQMEEKLRDFTRAYEPDSVLPLADGVLSFIHHQIIELARDCLTKSRDGLI
TTVYFYELQENLEKLLQDAYERSESLEVAFVTQLVKKLLIIISRPARLLECLEFNPEEFY
HLLEAAEGHAKEGHLVKTDIPRYIIRQLGLTRDPFPDVVHLEEQDSGGSNTPEQDDLSEG
RSSKAKKPPGENDFDTIKLISNGAYGAVYLVRHRDTRQRFAMKKINKQNLILRNQIQQAF
VERDILTFAENPFVVGMFCSFETRRHLCMVMEYVEGGDCATLLKNIGALPVEMARMYFAE
TVLALEYLHNYGIVHRDLKPDNLLITSMGHIKLTDFGLSKMGLMSLTTNLYEGHIEKDAR
EFLDKQVCGTPEYIAPEVILRQGYGKPVDWWAMGIILYEFLVGCVPFFGDTPEELFGQVI
SDDILWPEGDEALPTEAQLLISSLLQTNPLVRLGAGGAFEVKQHSFFRDLDWTGLLRQKA
EFIPHLESEDDTSYFDTRSDRYHHVNSYDEDDTTEEEPVEIRQFSSCSPRFSKVYSSMEQ
LSQHEPKTPVAAAGSSKREPSTKGPEEKVAGKREGLGGLTLREKTWRGGSPEIKRFSASE
ASFLEGEASPPLGARRRFSALLEPSRFSAPQEDEDEARLRRPPRPSSDPAGSLDARAPKE
ETQGEGTSSAGDSEATDRPRPGDLCPPSKDGDASGPRATNDLVLRRARHQQMSGDVAVEK
RPSRTGGKVIKSASATALSVMIPAVDPHGSSPLASPMSPRSLSSNPSSRDSSPSRDYSPA
VSGLRSPITIQRSGKKYGFTLRAIRVYMGDTDVYSVHHIVWHVEEGGPAQEAGLCAGDLI
THVNGEPVHGMVHPEVVELILKSGNKVAVTTTPFENTSIRIGPARRSSYKAKMARRNKRP
SAKEGQESKKRSSLFRKITKQSNLLHTSRSLSSLNRSLSSSDSLPGSPTHGLPARSPTHS
YRSTPDSAYLGASSQSSSPASSTPNSPASSASHHIRPSTLHGLSPKLHRQYRSARCKSAG
NIPLSPLAHTPSPTQASPPPLPGHTVGSSHTTQSFPAKLHSSPPVVRPRPKSAEPPRSPL
LKRVQSAEKLGASLSADKKGALRKHSLEVGHPDFRKDFHGELALHSLAESDGETPPVEGL
GAPRQVAVRRLGRQESPLSLGADPLLPEGASRPPVSSKEKESPGGAEACTPPRATTPGGR
TLERDVGCTRHQSVQTEDGTGGMARAVAKAALSPVQEHETGRRSSSGEAGTPLVPIVVEP
ARPGAKAVVPQPLGADSKGLQEPAPLAPSVPEAPRGRERWVLEVVEERTTLSGPRSKPAS
PKLSPEPQTPSLAPAKCSAPSSAVTPVPPASLLGSGTKPQVGLTSRCPAEAVPPAGLTKK
GVSSPAPPGP
Sequence length 1570
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
90
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
MAST1-related disorder Pathogenic rs1568413207 RCV003892681
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations Likely pathogenic; Pathogenic rs2145907078, rs1969917438, rs2145907069, rs2512536694, rs2512531898, rs2512523412, rs2512526900, rs1568409494, rs1568409502, rs1568413207 RCV002226863
RCV002250105
RCV002272813
RCV002471562
RCV003227539
RCV003333579
RCV004594994
RCV000735990
RCV000735991
RCV000735992
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability Likely benign; Benign rs1969972459, rs373376362, rs1442703139, rs200207566 RCV001252574
RCV001251825
RCV001251824
RCV001251823
See cases Benign; Likely benign rs149277170 RCV002253186
Show/Hide Text Mining Associations (8)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 26417591
Breast Neoplasms Associate 30303537, 33499882
Cerebellar Diseases Associate 38003592
Cognition Disorders Associate 38003592
Developmental Disabilities Associate 38003592
Megalancephaly Polymicrogyria Polydactyly Hydrocephalus Syndrome Associate 38284444
Prostatic Neoplasms Associate 39318189
Spinocerebellar Ataxia 29 Associate 38284444