Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, western clawed |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
cattle |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
dog, domestic |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
Microtubule-associated serine/threonine-protein kinase 1 (MAST1) belongs to the MAST family, which is characterised by containing a serine/threonine kinase domain and a PDZ (postsynaptic density protein-95/discs large/zona occludens-1) domain []. It links the dystrophin/utrophin network with microtubule filaments via the syntrophins []. MAST1 localises in the DAPC/UAPC, which is found within the postsynaptic region of the neuromuscular junction (NMJ) and central synapses []. The splice variant of its C-terminal affects its subcellular localisation within neurons []. Mutations in this protein cause mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCC-CH-CM) but they were also found in patients with autism and microcephaly, suggesting that MAST1 alterations are involved in a wide spectrum of neurodevelopmental diseases []. |
|
•
•
•
•
•
|
Publication |
First Author: |
Tripathy R |
Year: |
2018 |
Journal: |
Neuron |
Title: |
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. |
Volume: |
100 |
Issue: |
6 |
Pages: |
1354-1368.e5 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lumeng C |
Year: |
1999 |
Journal: |
Nat Neurosci |
Title: |
Interactions between beta 2-syntrophin and a family of microtubule-associated serine/threonine kinases. |
Volume: |
2 |
Issue: |
7 |
Pages: |
611-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yano R |
Year: |
2003 |
Journal: |
Neuroscience |
Title: |
Sast124, a novel splice variant of syntrophin-associated serine/threonine kinase (SAST), is specifically localized in the restricted brain regions. |
Volume: |
117 |
Issue: |
2 |
Pages: |
373-81 |
|
•
•
•
•
•
|
Publication |
First Author: |
Garland P |
Year: |
2008 |
Journal: |
Brain Res |
Title: |
Expression of the MAST family of serine/threonine kinases. |
Volume: |
1195 |
|
Pages: |
12-9 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
405
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
636
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
658
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1570
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Valiente M |
Year: |
2005 |
Journal: |
J Biol Chem |
Title: |
Binding of PTEN to specific PDZ domains contributes to PTEN protein stability and phosphorylation by microtubule-associated serine/threonine kinases. |
Volume: |
280 |
Issue: |
32 |
Pages: |
28936-43 |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus caroli |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus pahari |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus spretus |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3584907 |
Assay Type: |
RNA in situ |
Annotation Date: |
2005-08-30 |
Strength: |
Absent |
Sex: |
Male |
Emaps: |
EMAPS:1716828 |
|
Stage: |
TS28 |
Assay Id: |
MGI:3586121 |
Age: |
postnatal adult |
Image: |
Adult |
|
Specimen Label: |
Adult |
Detected: |
false |
Specimen Num: |
9 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3584907 |
Assay Type: |
RNA in situ |
Annotation Date: |
2005-08-30 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1915526 |
Pattern: |
Regionally restricted |
Stage: |
TS26 |
Assay Id: |
MGI:3586121 |
Age: |
embryonic day 18.0 |
Image: |
E18 |
Note: |
Expression was detected in a subset of cells in the inner neuroblastic layer. |
Specimen Label: |
E18 |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3584907 |
Assay Type: |
RNA in situ |
Annotation Date: |
2005-08-30 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1915527 |
Pattern: |
Regionally restricted |
Stage: |
TS27 |
Assay Id: |
MGI:3586121 |
Age: |
postnatal day 0-1 |
Image: |
P0/1 |
Note: |
Expression was detected in the scleral inner neuroblastic layer. |
Specimen Label: |
P0/1 |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3584907 |
Assay Type: |
RNA in situ |
Annotation Date: |
2005-08-30 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1915527 |
Pattern: |
Regionally restricted |
Stage: |
TS27 |
Assay Id: |
MGI:3586121 |
Age: |
postnatal day 2-3 |
Image: |
P2/3 |
Note: |
Expression was detected in the scleral inner neuroblastic layer. |
Specimen Label: |
P2/3 |
Detected: |
true |
Specimen Num: |
5 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3584907 |
Assay Type: |
RNA in situ |
Annotation Date: |
2005-08-30 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1915528 |
Pattern: |
Regionally restricted |
Stage: |
TS28 |
Assay Id: |
MGI:3586121 |
Age: |
postnatal day 4-5 |
Image: |
P4/5 |
Note: |
Expression was detected in the scleral inner neuroblastic layer. |
Specimen Label: |
P4/5 |
Detected: |
true |
Specimen Num: |
6 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3584907 |
Assay Type: |
RNA in situ |
Annotation Date: |
2005-08-30 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1915528 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:3586121 |
Age: |
postnatal day 6-7 |
Image: |
P6/7 |
|
Specimen Label: |
P6/7 |
Detected: |
true |
Specimen Num: |
7 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3584907 |
Assay Type: |
RNA in situ |
Annotation Date: |
2005-08-30 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1915528 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:3586121 |
Age: |
postnatal day 8-10 |
Image: |
P8/10 |
|
Specimen Label: |
P8/10 |
Detected: |
true |
Specimen Num: |
8 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3584907 |
Assay Type: |
RNA in situ |
Annotation Date: |
2005-08-30 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3598824 |
Pattern: |
Not Specified |
Stage: |
TS24 |
Assay Id: |
MGI:3586121 |
Age: |
embryonic day 16.0 |
|
|
Specimen Label: |
Embryo |
Detected: |
true |
Specimen Num: |
11 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3584907 |
Assay Type: |
RNA in situ |
Annotation Date: |
2005-08-30 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1647028 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:3586121 |
Age: |
postnatal day 6 |
|
Note: |
Expression was widespread. |
Specimen Label: |
CNS |
Detected: |
true |
Specimen Num: |
10 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3584907 |
Assay Type: |
RNA in situ |
Annotation Date: |
2005-08-30 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1915727 |
Pattern: |
Not Specified |
Stage: |
TS27 |
Assay Id: |
MGI:3586121 |
Age: |
postnatal day 2-3 |
Image: |
P2/3 |
Note: |
Expression was detected in the outer neuroblastic layer. |
Specimen Label: |
P2/3 |
Detected: |
true |
Specimen Num: |
5 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3584907 |
Assay Type: |
RNA in situ |
Annotation Date: |
2005-08-30 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1915728 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:3586121 |
Age: |
postnatal day 4-5 |
Image: |
P4/5 |
Note: |
Expression was detected in the outer neuroblastic layer. |
Specimen Label: |
P4/5 |
Detected: |
true |
Specimen Num: |
6 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3584907 |
Assay Type: |
RNA in situ |
Annotation Date: |
2005-08-30 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1859224 |
Pattern: |
Regionally restricted |
Stage: |
TS24 |
Assay Id: |
MGI:3586121 |
Age: |
embryonic day 16.0 |
Image: |
E16 |
Note: |
Expression was detected in the inner neuroblastic layer. |
Specimen Label: |
E16 |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3584907 |
Assay Type: |
RNA in situ |
Annotation Date: |
2005-08-30 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1646924 |
Pattern: |
Not Specified |
Stage: |
TS24 |
Assay Id: |
MGI:3586121 |
Age: |
embryonic day 16.0 |
|
|
Specimen Label: |
Embryo |
Detected: |
true |
Specimen Num: |
11 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3584907 |
Assay Type: |
RNA in situ |
Annotation Date: |
2005-08-30 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3574228 |
Pattern: |
Regionally restricted |
Stage: |
TS28 |
Assay Id: |
MGI:3586121 |
Age: |
postnatal day 6-7 |
Image: |
P6/7 |
Note: |
Expression was detected in amacrine cells. |
Specimen Label: |
P6/7 |
Detected: |
true |
Specimen Num: |
7 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3584907 |
Assay Type: |
RNA in situ |
Annotation Date: |
2005-08-30 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3574228 |
Pattern: |
Regionally restricted |
Stage: |
TS28 |
Assay Id: |
MGI:3586121 |
Age: |
postnatal day 8-10 |
Image: |
P8/10 |
Note: |
Expression was detected in amacrine cells. |
Specimen Label: |
P8/10 |
Detected: |
true |
Specimen Num: |
8 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3584907 |
Assay Type: |
RNA in situ |
Annotation Date: |
2005-08-30 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1717122 |
Pattern: |
Regionally restricted |
Stage: |
TS22 |
Assay Id: |
MGI:3586121 |
Age: |
embryonic day 14.0 |
|
Note: |
Expression was detected in the inner neuroblastic layer. |
Specimen Label: |
E14 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
Publication |
First Author: |
Krieser RJ |
Year: |
2000 |
Journal: |
Gene |
Title: |
Deoxyribonuclease II: structure and chromosomal localization of the murine gene, and comparison with the genomic structure of the human and three C. elegans homologs. |
Volume: |
252 |
Issue: |
1-2 |
Pages: |
155-62 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sasaki N |
Year: |
2010 |
Journal: |
Mol Cell Neurosci |
Title: |
Sonic hedgehog signaling regulates actin cytoskeleton via Tiam1-Rac1 cascade during spine formation. |
Volume: |
45 |
Issue: |
4 |
Pages: |
335-44 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chai G |
Year: |
2021 |
Journal: |
Neuron |
Title: |
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. |
Volume: |
109 |
Issue: |
2 |
Pages: |
241-256.e9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Strausberg RL |
Year: |
2002 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |
Volume: |
99 |
Issue: |
26 |
Pages: |
16899-903 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information Editorial Staff Collaboration |
Year: |
2001 |
|
Title: |
LocusLink Collaboration |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Blackshaw S |
Year: |
2004 |
Journal: |
PLoS Biol |
Title: |
Genomic analysis of mouse retinal development. |
Volume: |
2 |
Issue: |
9 |
Pages: |
E247 |
|
•
•
•
•
•
|
Publication |
First Author: |
GO Central curators, GOA curators, Rhea curators |
Year: |
2020 |
|
Title: |
Automatic Gene Ontology annotation based on Rhea mapping |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
GOA curators, MGI curators |
Year: |
2001 |
|
Title: |
Gene Ontology annotation based on Enzyme Commission mapping |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2016 |
|
Title: |
Automatic assignment of GO terms using logical inference, based on on inter-ontology links |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Wellcome Trust Sanger Institute |
Year: |
2010 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the EUCOMM and EUCOMMTools projects by the Wellcome Trust Sanger Institute |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
|
Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Carninci P |
Year: |
2005 |
Journal: |
Science |
Title: |
The transcriptional landscape of the mammalian genome. |
Volume: |
309 |
Issue: |
5740 |
Pages: |
1559-63 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kawai J |
Year: |
2001 |
Journal: |
Nature |
Title: |
Functional annotation of a full-length mouse cDNA collection. |
Volume: |
409 |
Issue: |
6821 |
Pages: |
685-90 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zambrowicz BP |
Year: |
2003 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. |
Volume: |
100 |
Issue: |
24 |
Pages: |
14109-14 |
|
•
•
•
•
•
|
Publication |
First Author: |
GemPharmatech |
Year: |
2020 |
|
Title: |
GemPharmatech Website. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Skarnes WC |
Year: |
2011 |
Journal: |
Nature |
Title: |
A conditional knockout resource for the genome-wide study of mouse gene function. |
Volume: |
474 |
Issue: |
7351 |
Pages: |
337-42 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI) |
Year: |
2008 |
Journal: |
Database Download |
Title: |
Mouse Gene Trap Data Load from dbGSS |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
Year: |
2011 |
|
Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
|
Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Okazaki Y |
Year: |
2002 |
Journal: |
Nature |
Title: |
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. |
Volume: |
420 |
Issue: |
6915 |
Pages: |
563-73 |
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2). |
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Publication |
First Author: |
MGI Genome Annotation Group and UniGene Staff |
Year: |
2015 |
Journal: |
Database Download |
Title: |
MGI-UniGene Interconnection Effort |
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Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
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Title: |
Annotation inferences using phylogenetic trees |
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Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
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Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
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Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
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Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
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Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
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Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
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Allele |
Name: |
microtubule associated serine/threonine kinase 1; endonuclease-mediated mutation 2, David A Keays |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Null/knockout |
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Allele |
Name: |
microtubule associated serine/threonine kinase 1; endonuclease-mediated mutation 1, David A Keays |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Dominant negative |
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Genotype |
Symbol: |
Mast1/Mast1<+> |
Background: |
B6.Cg-Mast1 |
Zygosity: |
ht |
Has Mutant Allele: |
true |
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DO Term |
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Publication |
First Author: |
Wang D |
Year: |
2006 |
Journal: |
Am J Physiol Renal Physiol |
Title: |
Coexpression of MAST205 inhibits the activity of Na+/H+ exchanger NHE3. |
Volume: |
290 |
Issue: |
2 |
Pages: |
F428-37 |
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Protein Domain |
Type: |
Domain |
Description: |
MAST (Microtubule-Associated Serine/Threonine) kinases are characterised by containing a serine/threonine kinase domain and a PDZ (postsynaptic density protein-95/discs large/zona occludens-1) domain []. There are four mammalian MAST kinases, named MAST1-MAST4. MAST1, MAST2, and MAST3 bind and phosphorylate the tumor suppressor PTEN, and may contribute to the regulation and stabilization of PTEN []. MAST1 links the dystrophin/utrophin network with microtubule filaments via the syntrophins []. MAST1 localises in the DAPC/UAPC, which is found within the postsynaptic region of the neuromuscular junction (NMJ) and central synapses []. The splice variant of its C-terminal affects its subcellular localisation within neurons []. MAST2 is involved in the regulation of the Fc-gamma receptor of the innate immune response in macrophages, and may also be involved in the regulation of the Na+/H+ exchanger NHE3 []. |
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Publication |
First Author: |
Spinelli E |
Year: |
2021 |
Journal: |
Ann Neurol |
Title: |
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy. |
Volume: |
90 |
Issue: |
2 |
Pages: |
274-284 |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
868
 |
Fragment?: |
true |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1734
 |
Fragment?: |
false |
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•
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1321
 |
Fragment?: |
false |
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•
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1739
 |
Fragment?: |
false |
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•
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1642
 |
Fragment?: |
false |
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•
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