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Search results 1 to 81 out of 81 for Kptn

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Type Details Score
Gene
11133 | KPTN
Type: gene
Organism: human
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Gene
456166 | KPTN
Type: gene
Organism: chimpanzee
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Gene
533926 | KPTN
Type: gene
Organism: cattle
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Gene
445248 | kptn
Type: gene
Organism: zebrafish
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Gene
717322 | KPTN
Type: gene
Organism: macaque, rhesus
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Gene
101752009 | KPTN
Type: gene
Organism: chicken
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Gene
100216175 | kptn
Type: gene
Organism: frog, western clawed
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Gene
308107 | Kptn
Type: gene
Organism: rat
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Gene
612136 | KPTN
Type: gene
Organism: dog, domestic
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Protein Coding Gene
MGI:1890380 | Kptn
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Domain
IPR029982 | Kptn
Type: Family
Description: Kaptin (Kptn) is an actin-associated protein that may be involved in the actin organisation in platelets and neurons [, , ]. Mutations in the kaptin gene cause mental retardation, autosomal recessive 41 (MRT41) []. Kaptin is a component of the KICSTOR complex which is found in the lysosome and interacts with the GATOR1 complex, binding it to the lysosomal membrane surface. KICSTOR is a negative regulator of mTORC1 signalling during amino acid or glucose starvation [].
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Publication
24239382 | -
First Author: Baple EL
Year: 2014
Journal: Am J Hum Genet
Title: Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.
Volume: 94
Issue: 1
Pages: 87-94
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Protein
Q8VCX6
Organism: Mus musculus/domesticus
Length: 430  
Fragment?: false
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Publication
28199306 | J:240399
First Author: Wolfson RL
Year: 2017
Journal: Nature
Title: KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1.
Volume: 543
Issue: 7645
Pages: 438-442
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Protein
G3X8R1
Organism: Mus musculus/domesticus
Length: 430  
Fragment?: false
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Publication
10099934 | -
First Author: Bearer EL
Year: 1999
Journal: Eur J Cell Biol
Title: 2E4 (kaptin): a novel actin-associated protein from human blood platelets found in lamellipodia and the tips of the stereocilia of the inner ear.
Volume: 78
Issue: 2
Pages: 117-26
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Publication
1372044 | -
First Author: Bearer EL
Year: 1992
Journal: J Neurosci
Title: An actin-associated protein present in the microtubule organizing center and the growth cones of PC-12 cells.
Volume: 12
Issue: 3
Pages: 750-61
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Publication
37437211 | J:343200
First Author: Levitin MO
Year: 2023
Journal: Brain
Title: Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
Volume: 146
Issue: 11
Pages: 4766-4783
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Protein Coding Gene
MGP_CAROLIEiJ_G0029223 | -
Type: protein_coding_gene
Organism: Mus caroli
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Protein Coding Gene
MGP_129S1SvImJ_G0031699 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AJ_G0031671 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AKRJ_G0031596 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_BALBcJ_G0031678 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C3HHeJ_G0031400 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI_C57BL6J_1890380 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C57BL6NJ_G0032144 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CASTEiJ_G0030751 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CBAJ_G0031359 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_DBA2J_G0031515 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_FVBNJ_G0031471 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_LPJ_G0031600 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NODShiLtJ_G0031506 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NZOHlLtJ_G0032173 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PWKPhJ_G0030475 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_WSBEiJ_G0030848 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PahariEiJ_G0021079 | -
Type: protein_coding_gene
Organism: Mus pahari
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Protein Coding Gene
MGP_SPRETEiJ_G0030303 | -
Type: protein_coding_gene
Organism: Mus spretus
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Publication
23870131 | J:200082
First Author: White JK
Year: 2013
Journal: Cell
Title: Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.
Volume: 154
Issue: 2
Pages: 452-64
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Publication
14755058 | J:88183
First Author: Hong HK
Year: 2004
Journal: Proc Natl Acad Sci U S A
Title: The gene for soluble N-ethylmaleimide sensitive factor attachment protein alpha is mutated in hydrocephaly with hop gait (hyh) mice.
Volume: 101
Issue: 6
Pages: 1748-53
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Publication
12016511 | J:76561
First Author: Chae TH
Year: 2002
Journal: Mamm Genome
Title: Mapping of the mouse hyh gene to a YAC/BAC contig on proximal Chromosome 7.
Volume: 13
Issue: 5
Pages: 239-44
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Publication
- | J:175295
     
First Author: Mouse Genome Informatics and the Wellcome Trust Sanger Institute Mouse Genetics Project (MGP)
Year: 2011
Journal: Database Release
Title: Obtaining and Loading Phenotype Annotations from the Wellcome Trust Sanger Institute (WTSI) Mouse Resources Portal
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Publication
- | J:66660
       
First Author: Mouse Genome Database and National Center for Biotechnology Information Editorial Staff Collaboration
Year: 2001
Title: LocusLink Collaboration
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Publication
30973865 | J:274872
First Author: Ingham NJ
Year: 2019
Journal: PLoS Biol
Title: Mouse screen reveals multiple new genes underlying mouse and human hearing loss.
Volume: 17
Issue: 4
Pages: e3000194
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Publication
- | J:155845
     
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
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Publication
38355793 | J:345621
First Author: Adams DJ
Year: 2024
Journal: Nature
Title: Genetic determinants of micronucleus formation in vivo.
Volume: 627
Issue: 8002
Pages: 130-136
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Publication
- | J:94790
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Mouse Synonym Curation
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Publication
- | J:80001
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: FANTOM2 Data Curation in Mouse Genome Informatics
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Publication
21677750 | J:173534
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
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Publication
- | J:204739
     
First Author: International Knockout Mouse Consortium
Year: 2014
Journal: Database Download
Title: MGI download of modified allele data from IKMC and creation of new knockout alleles
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Publication
- | J:72247
       
First Author: DDB, FB, MGI, GOA, ZFIN curators
Year: 2001
Title: Gene Ontology annotation through association of InterPro records with GO terms
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Publication
- | J:342604
       
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
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Publication
- | J:85000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
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Publication
11217851 | J:65060
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
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Publication
14610273 | J:86696
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
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Publication
- | J:141210
     
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
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Publication
- | J:293217
       
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
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Publication
- | J:342587
       
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
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Publication
- | J:68900
     
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
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Publication
12466851 | J:80000
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
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Publication
- | J:164563
       
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
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Publication
- | J:75000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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Publication
- | J:157972
     
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
- | J:161428
       
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
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Publication
- | J:63103
     
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
- | J:53168
     
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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Publication
- | J:90438
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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Publication
- | J:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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Publication
- | J:155721
     
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
- | J:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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Publication
- | J:91388
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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Publication
- | J:144086
     
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
- | J:262123
     
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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Publication
- | J:144087
     
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
Kptn<tm1a(EUCOMM)Wtsi> | MGI:4433701
Name: kaptin; targeted mutation 1a, Wellcome Trust Sanger Institute
Allele Type: Targeted
Attribute String: Conditional ready, Null/knockout, Reporter
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Genotype
Genotype
Symbol: Kptn/Kptn
Background: C57BL/6N-Kptn
Zygosity: hm
Has Mutant Allele: true
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DO Term
DOID:0081206 | autosomal recessive intellectual developmental disorder 41
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Strain
MGI:5781390 | B6JTyr;B6N-Kptn<tm1a(EUCOMM)Wtsi>/Wtsi
Attribute String: mutant stock, targeted mutation
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Genotype
Genotype
Symbol: Kptn/Kptn
Background: involves: C57BL/6N
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Kptn/Kptn
Background: B6JTyr;B6N-Kptn/Wtsi
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Kptn/Kptn
Background: Not Specified
Zygosity: hm
Has Mutant Allele: true
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Strain
MGI:5556584 | B6Brd;B6N-Tyr<c-Brd> Kptn<tm1a(EUCOMM)Wtsi>/WtsiOulu
Attribute String: mutant strain, targeted mutation, spontaneous mutation
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