MAST1

Protein identityUniProt · HPA

UniProt accession

Q9Y2H9

Gene

MAST1

Ensembl

ENSG00000105613

Chromosome

19

Canonical length

1570 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Vesicles,Cytosol

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

1570 residues, UniProt reviewed canonical sequence.

>Q9Y2H9|MAST1
     1  MSDSLWTALS NFSMPSFPGG SMFRRTKSCR TSNRKSLILT STSPTLPRPH SPLPGHLGSS
    61  PLDSPRNFSP NTPAHFSFAS SRRADGRRWS LASLPSSGYG TNTPSSTVSS SCSSQERLHQ
   121  LPYQPTVDEL HFLSKHFGST ESITDEDGGR RSPAVRPRSR SLSPGRSPSS YDNEIVMMNH
   181  VYKERFPKAT AQMEEKLRDF TRAYEPDSVL PLADGVLSFI HHQIIELARD CLTKSRDGLI
   241  TTVYFYELQE NLEKLLQDAY ERSESLEVAF VTQLVKKLLI IISRPARLLE CLEFNPEEFY
   301  HLLEAAEGHA KEGHLVKTDI PRYIIRQLGL TRDPFPDVVH LEEQDSGGSN TPEQDDLSEG
   361  RSSKAKKPPG ENDFDTIKLI SNGAYGAVYL VRHRDTRQRF AMKKINKQNL ILRNQIQQAF
   421  VERDILTFAE NPFVVGMFCS FETRRHLCMV MEYVEGGDCA TLLKNIGALP VEMARMYFAE
   481  TVLALEYLHN YGIVHRDLKP DNLLITSMGH IKLTDFGLSK MGLMSLTTNL YEGHIEKDAR
   541  EFLDKQVCGT PEYIAPEVIL RQGYGKPVDW WAMGIILYEF LVGCVPFFGD TPEELFGQVI
   601  SDDILWPEGD EALPTEAQLL ISSLLQTNPL VRLGAGGAFE VKQHSFFRDL DWTGLLRQKA
   661  EFIPHLESED DTSYFDTRSD RYHHVNSYDE DDTTEEEPVE IRQFSSCSPR FSKVYSSMEQ
   721  LSQHEPKTPV AAAGSSKREP STKGPEEKVA GKREGLGGLT LREKTWRGGS PEIKRFSASE
   781  ASFLEGEASP PLGARRRFSA LLEPSRFSAP QEDEDEARLR RPPRPSSDPA GSLDARAPKE
   841  ETQGEGTSSA GDSEATDRPR PGDLCPPSKD GDASGPRATN DLVLRRARHQ QMSGDVAVEK
   901  RPSRTGGKVI KSASATALSV MIPAVDPHGS SPLASPMSPR SLSSNPSSRD SSPSRDYSPA
   961  VSGLRSPITI QRSGKKYGFT LRAIRVYMGD TDVYSVHHIV WHVEEGGPAQ EAGLCAGDLI
  1021  THVNGEPVHG MVHPEVVELI LKSGNKVAVT TTPFENTSIR IGPARRSSYK AKMARRNKRP
  1081  SAKEGQESKK RSSLFRKITK QSNLLHTSRS LSSLNRSLSS SDSLPGSPTH GLPARSPTHS
  1141  YRSTPDSAYL GASSQSSSPA SSTPNSPASS ASHHIRPSTL HGLSPKLHRQ YRSARCKSAG
  1201  NIPLSPLAHT PSPTQASPPP LPGHTVGSSH TTQSFPAKLH SSPPVVRPRP KSAEPPRSPL
  1261  LKRVQSAEKL GASLSADKKG ALRKHSLEVG HPDFRKDFHG ELALHSLAES DGETPPVEGL
  1321  GAPRQVAVRR LGRQESPLSL GADPLLPEGA SRPPVSSKEK ESPGGAEACT PPRATTPGGR
  1381  TLERDVGCTR HQSVQTEDGT GGMARAVAKA ALSPVQEHET GRRSSSGEAG TPLVPIVVEP
  1441  ARPGAKAVVP QPLGADSKGL QEPAPLAPSV PEAPRGRERW VLEVVEERTT LSGPRSKPAS
  1501  PKLSPEPQTP SLAPAKCSAP SSAVTPVPPA SLLGSGTKPQ VGLTSRCPAE AVPPAGLTKK
  1561  GVSSPAPPGP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MAST1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.54

Highest tissue expression

93 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MAST1.

Disease | AllUniProt

Conditions MAST1 is implicated in, by any mechanism.

• Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) MIM:618273

Disease | GeneticClinVar

15 pathogenic / likely-pathogenic of 722 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
• MAST1-related disorder

Disease | ImmuneIEDB

Conditions an epitope on MAST1 was assayed in.

• narcolepsy B cell
• multiple sclerosis B cell
• peripheral nervous system disease B cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.16

gnomAD pLI

1

gnomAD missense Z

5.77

DepMap mean gene effect

-0.15

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• brain development
• cytoskeleton organization
• intracellular signal transduction
• protein phosphorylation

Molecular functions

• ATP binding
• magnesium ion binding
• microtubule binding
• protein serine kinase activity
• protein serine/threonine kinase activity

Cellular components

• axon
• dendrite
• microtubule cytoskeleton
• neuron projection
• neuronal cell body
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Protein kinase domain
• AGC-kinase, C-terminal
• PDZ domain
• Serine/threonine-protein kinase, active site
• Protein kinase-like domain superfamily
• Microtubule-associated serine/threonine-protein kinase, pre-PK domain
• Microtubule-associated serine/threonine-protein kinase, pre-PK domain superfamily
• PDZ superfamily
• Microtubule-associated serine/threonine-protein kinase, catalytic domain
• PDZ domain 6
• Serine/threonine-protein kinases, AGC
• Protein kinase domain
• Domain of unknown function (DUF1908)
• PDZ domain

KeywordsUniProt

• ATP-binding
• Cell membrane
• Cell projection
• Cytoplasm
• Cytoskeleton
• Intellectual disability
• Kinase
• Magnesium
• Membrane
• Metal-binding
• Nucleotide-binding
• Phosphoprotein
• Serine/threonine-protein kinase
• Transferase

InteractionsUniProt · HPA

Protein binding partners of MAST1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• SNTB2
• PTEN
• ECSIT
• EXOSC1
• YWHAB
• YWHAE