Gene Gene information from NCBI Gene database.
Entrez ID 84930
Gene name Microtubule associated serine/threonine kinase like
Gene symbol MASTL
Synonyms (NCBI Gene)
GREATWALLGWGWLMAST-LTHC2
Chromosome 10
Chromosome location 10p12.1
Summary This gene encodes a microtubule-associated serine/threonine kinase. Mutations at this locus have been associated with autosomal dominant thrombocytopenia, also known as thrombocytopenia-2. Alternatively spliced transcript variants have been described for
miRNA miRNA information provided by mirtarbase database.
243
miRTarBase ID miRNA Experiments Reference
MIRT021059 hsa-miR-155-5p Reporter assay;Other 18668040
MIRT021059 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT047078 hsa-miR-183-5p CLASH 23622248
MIRT126555 hsa-miR-130a-3p HITS-CLIP 23824327
MIRT126560 hsa-miR-130b-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0000086 Process G2/M transition of mitotic cell cycle IMP 20538976, 20818157
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IBA
GO:0004674 Function Protein serine/threonine kinase activity IDA 20538976
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608221 19042 ENSG00000120539
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96GX5
Protein name Serine/threonine-protein kinase greatwall (GW) (GWL) (hGWL) (EC 2.7.11.1) (Microtubule-associated serine/threonine-protein kinase-like) (MAST-L)
Protein function Serine/threonine kinase that plays a key role in M phase by acting as a regulator of mitosis entry and maintenance (PubMed:19680222). Acts by promoting the inactivation of protein phosphatase 2A (PP2A) during M phase: does not directly inhibit P
PDB 5LOH , 8V5H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 35 202 Protein kinase domain Domain
PF00069 Pkinase 727 835 Protein kinase domain Domain
Sequence
MDPTAGSKKEPGGGAATEEGVNRIAVPKPPSIEEFSIVKPISRGAFGKVYLGQKGGKLYA
VKVVKKADMINKNMTHQVQAERDALALSKSPFIVHLYYSLQSANNVYLVMEYLIGGDVKS
LLHIYGYFDEEMAVKYISEVALALDYLHRHGIIHRDLKPDNMLISNEGHIKLTDFGLSKV
TLNRDINMMDILTTPSMAKPRQ
DYSRTPGQVLSLISSLGFNTPIAEKNQDPANILSACLS
ETSQLSQGLVCPMSVDQKDTTPYSSKLLKSCLETVASNPGMPVKCLTSNLLQSRKRLATS
SASSQSHTFISSVESECHSSPKWEKDCQESDEALGPTMMSWNAVEKLCAKSANAIETKGF
NKKDLELALSPIHNSSALPTTGRSCVNLAKKCFSGEVSWEAVELDVNNINMDTDTSQLGF
HQSNQWAVDSGGISEEHLGKRSLKRNFELVDSSPCKKIIQNKKTCVEYKHNEMTNCYTNQ
NTGLTVEVQDLKLSVHKSQQNDCANKENIVNSFTDKQQTPEKLPIPMIAKNLMCELDEDC
EKNSKRDYLSSSFLCSDDDRASKNISMNSDSSFPGISIMESPLESQPLDSDRSIKESSFE
ESNIEDPLIVTPDCQEKTSPKGVENPAVQESNQKMLGPPLEVLKTLASKRNAVAFRSFNS
HINASNNSEPSRMNMTSLDAMDISCAYSGSYPMAITPTQKRRSCMPHQQTPNQIKSGTPY
RTPKSVRRGVAPVDDGRILGTPDYLAPELLLGRAHGPAVDWWALGVCLFEFLTGIPPFND
ETPQQVFQNILKRDIPWPEGEEKLSDNAQSAVEILLTIDDTKRAGMKELKRHPLF
SDVDW
ENLQHQTMPFIPQPDDETDTSYFEARNTAQHLTVSGFSL
Sequence length 879
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    MASTL Facilitates Mitotic Progression
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
110
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Uncertain significance rs747762064 RCV005913700
Autosomal dominant thrombocytopenia Uncertain significance rs1239580692 RCV002244251
MASTL-related disorder Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity rs200461088, rs2539969168, rs2539708321, rs537654014, rs1012781973, rs141882356, rs142221261, rs144174245, rs767592505, rs146116709, rs746804927, rs756961236, rs148839815, rs144503451, rs146165894
View all (4 more)
RCV003417126
RCV003402283
RCV003400404
RCV003410580
RCV003391303
RCV003924007
RCV003902221
RCV003904662
RCV003916823
RCV003976804
RCV003983520
RCV003959444
RCV003967862
RCV003953474
RCV003918683
RCV003973075
RCV003945814
RCV003918688
RCV003938448
Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities Uncertain significance rs2539964632 RCV002466943
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 28617547, 29976159, 32311005
Calcinosis Cutis Stimulate 28617547
Carcinogenesis Associate 30068336, 37508547
Chromosomal Instability Associate 36787737
Colorectal Neoplasms Associate 30068336, 37508547
Endometrial Neoplasms Associate 33627787
Melanoma Associate 31733171
Neoplasms Associate 26613407, 29976159, 32311005
Neoplasms Stimulate 30068336
Prostatic Neoplasms Associate 36787737