MAST1 microtubule associated serine/threonine kinase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAST1provided by HGNC
Official Full Name: microtubule associated serine/threonine kinase 1provided by HGNC
Primary source: HGNC:HGNC:19034
See related: Ensembl:ENSG00000105613 MIM:612256; AllianceGenome:HGNC:19034
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SAST; MCCCHCM
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) 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]
Expression: Biased expression in brain (RPKM 10.3), testis (RPKM 1.3) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.13

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (12838515..12874952)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (12963033..12999436)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (12949329..12985766)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

USP28 promotes tumorigenesis and cisplatin resistance by deubiquitinating MAST1 protein in cancer cells.
Title: USP28 promotes tumorigenesis and cisplatin resistance by deubiquitinating MAST1 protein in cancer cells.
CircMAST1 inhibits cervical cancer progression by hindering the N4-acetylcytidine modification of YAP mRNA.
Title: CircMAST1 inhibits cervical cancer progression by hindering the N4-acetylcytidine modification of YAP mRNA.
Mast1 mediates radiation-induced gastric injury via the P38 MAPK pathway.
Title: Mast1 mediates radiation-induced gastric injury via the P38 MAPK pathway.
Cisplatin-mediated activation of glucocorticoid receptor induces platinum resistance via MAST1.
Title: Cisplatin-mediated activation of glucocorticoid receptor induces platinum resistance via MAST1.
MAST1 modulates neuronal differentiation and cell cycle exit via P27 in neuroblastoma cells.
Title: MAST1 modulates neuronal differentiation and cell cycle exit via P27 in neuroblastoma cells.
Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities.
Title: Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities.
Through a proteomics screen, we identified the heat shock protein 90 B (hsp90B) chaperone as a direct MAST1 binding partner essential for its stabilization. Targeting hsp90B sensitized cancer cells to cisplatin predominantly through MAST1 destabilization. Mechanistically, interaction of hsp90B with MAST1 blocked ubiquitination of MAST1 at lysines 317 and 545.
Title: Hsp90B enhances MAST1-mediated cisplatin resistance by protecting MAST1 from proteosomal degradation.
This report showed that de novo MAST1 substitutions are present in patients with autism and microcephaly, raising the prospect that mutations in this gene give rise to a spectrum of neurodevelopmental diseases.
Title: Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
Overexpression of MAST1 or MAST2 gene fusions has a proliferative effect both in vitro and in vivo in breast cancer cell lines.
Title: Functionally recurrent rearrangements of the MAST kinase and Notch gene families in breast cancer.
Discusses cloning of Sast, the mouse ortholog of human MAST1.
Title: Interactions between beta 2-syntrophin and a family of microtubule-associated serine/threonine kinases.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations MedGen: C4748927 OMIM: 618273 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2S2287 (e-PCR)
- UniSTS:69646

SHGC-78625 (e-PCR)
- UniSTS:102081

RH65998 (e-PCR)
- UniSTS:46078

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3-phosphoinositide-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
enables AMP-activated protein kinase activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
enables Rho-dependent protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info
enables eukaryotic translation initiation factor 2alpha kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AS1 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AS121 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AT120 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AXS139 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2BS14 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2BS36 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S10 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S28 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S57 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T11 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T3 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T45 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T6 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H4S1 kinase activity	IEA Inferred from Electronic Annotation more info
enables magnesium ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables microtubule binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein serine/threonine kinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables ribosomal protein S6 kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in brain development	IBA Inferred from Biological aspect of Ancestor more info
involved_in brain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein phosphorylation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in axon	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in neuron projection	ISS Inferred from Sequence or Structural Similarity more info
located_in neuronal cell body	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: microtubule-associated serine/threonine-protein kinase 1

Names: syntrophin associated serine/threonine kinase; syntrophin-associated serine/threonine-protein kinase

NP_055790.1

EC 2.7.11.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_054729.1 RefSeqGene

Range

9585..46022

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_014975.3 → NP_055790.1 microtubule-associated serine/threonine-protein kinase 1

See identical proteins and their annotated locations for NP_055790.1

Status: REVIEWED

Source sequence(s)

AB023190, AC020934, BM681304, DA769770

Consensus CDS

CCDS32921.1

UniProtKB/Swiss-Prot

O00114, Q8N6X0, Q9Y2H9

Related

ENSP00000251472.3, ENST00000251472.9

Conserved Domains (4) summary

smart00220
Location:374 → 647

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd00992
Location:968 → 1050

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd05609
Location:373 → 652

STKc_MAST; Catalytic domain of the Protein Serine/Threonine Kinase, Microtubule-associated serine/threonine kinase

pfam08926
Location:61 → 337

DUF1908; Domain of unknown function (DUF1908)