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Search results 1 to 83 out of 83 for Tbc1d23

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Categories

Hits by Category

Hits by Strain

Type Details Score
Gene
55773 | TBC1D23
Type: gene
Organism: human
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Gene
100493673 | tbc1d23
Type: gene
Organism: frog, western clawed
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Gene
304019 | Tbc1d23
Type: gene
Organism: rat
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Gene
460554 | TBC1D23
Type: gene
Organism: chimpanzee
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Gene
478539 | TBC1D23
Type: gene
Organism: dog, domestic
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Gene
518370 | TBC1D23
Type: gene
Organism: cattle
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Gene
418383 | TBC1D23
Type: gene
Organism: chicken
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Gene
798995 | tbc1d23
Type: gene
Organism: zebrafish
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Gene
701253 | TBC1D23
Type: gene
Organism: macaque, rhesus
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Protein Domain
IPR039755 | TBC1D23
Type: Family
Description: TBC1 domain family member 23 (TBC1D23) is a catalytically inactive member of a family of Rab GTPase-activating proteins (GAPs) which plays a role in endosome-to-Golgi trafficking and isimportant for normal brain development, especially in axonal and dendritic growth. It functions as a bridging factor between golgin-97/245 and the FAM21 subunit of the WASH (Wiskott-Aldrich syndrome protein and SCAR homologue) complex on endosomal vesicles []. Mutations of the TBC1D23 gene cause pontocerebellar hypoplasia and alter cortical development [].
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Protein Coding Gene
MGI:1914831 | Tbc1d23
Type: protein_coding_gene
Organism: mouse, laboratory
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Publication
28823707 | J:248438
First Author: Ivanova EL
Year: 2017
Journal: Am J Hum Genet
Title: Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
Volume: 101
Issue: 3
Pages: 428-440
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Publication
29084197 | J:249681
First Author: Shin JJH
Year: 2017
Journal: Nat Cell Biol
Title: TBC1D23 is a bridging factor for endosomal vesicle capture by golgins at the trans-Golgi.
Volume: 19
Issue: 12
Pages: 1424-1432
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Publication
22312129 | J:181861
First Author: De Arras L
Year: 2012
Journal: J Immunol
Title: Spatiotemporal inhibition of innate immunity signaling by the Tbc1d23 RAB-GAP.
Volume: 188
Issue: 6
Pages: 2905-13
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Protein
Q8K0F1
Organism: Mus musculus/domesticus
Length: 684  
Fragment?: false
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Protein
A0A2I3BRD1
Organism: Mus musculus/domesticus
Length: 699  
Fragment?: false
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Protein Coding Gene
MGP_CAROLIEiJ_G0020822 | -
Type: protein_coding_gene
Organism: Mus caroli
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Protein Coding Gene
MGP_129S1SvImJ_G0022896 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AJ_G0022863 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AKRJ_G0022835 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_BALBcJ_G0022863 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C3HHeJ_G0022626 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI_C57BL6J_1914831 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C57BL6NJ_G0023311 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CASTEiJ_G0022153 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CBAJ_G0022599 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_DBA2J_G0022731 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_FVBNJ_G0022706 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_LPJ_G0022798 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NODShiLtJ_G0022724 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NZOHlLtJ_G0023326 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PWKPhJ_G0021892 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_WSBEiJ_G0022197 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PahariEiJ_G0016522 | -
Type: protein_coding_gene
Organism: Mus pahari
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Protein Coding Gene
MGP_SPRETEiJ_G0021722 | -
Type: protein_coding_gene
Organism: Mus spretus
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GXD Expression
GXD Expression
   
Probe: MGI:7384512
Assay Type: RT-PCR
Annotation Date: 2022-11-15
Strength: Present
Sex: Male
Emaps: EMAPS:3819023
Stage: TS23
Assay Id: MGI:7384534
Age: embryonic day 15.5
Image: 4
Specimen Label: WT
Detected: true
Specimen Num: 1
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GXD Expression
GXD Expression
   
Probe: MGI:7384512
Assay Type: RT-PCR
Annotation Date: 2022-11-15
Strength: Present
Sex: Male
Emaps: EMAPS:3819023
Stage: TS23
Assay Id: MGI:7384534
Age: embryonic day 15.5
Image: 4
Specimen Label: Fmr1 KO
Detected: true
Specimen Num: 2
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Publication
33323119 | J:302571
First Author: Casingal CR
Year: 2020
Journal: Mol Brain
Title: Identification of FMRP target mRNAs in the developmental brain: FMRP might coordinate Ras/MAPK, Wnt/β-catenin, and mTOR signaling during corticogenesis.
Volume: 13
Issue: 1
Pages: 167
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Publication
10725249 | J:60984
First Author: Ko MS
Year: 2000
Journal: Development
Title: Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development.
Volume: 127
Issue: 8
Pages: 1737-49
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Publication
- | J:346132
       
First Author: The Gene Ontology Consortium
Year: 2016
Title: Automatic assignment of GO terms using logical inference, based on on inter-ontology links
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Publication
12520002 | J:91812
First Author: Stryke D
Year: 2003
Journal: Nucleic Acids Res
Title: BayGenomics: a resource of insertional mutations in mouse embryonic stem cells.
Volume: 31
Issue: 1
Pages: 278-81
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Publication
- | J:204812
     
First Author: International Mouse Strain Resource
Year: 2014
Journal: Database Download
Title: MGI download of germline transmission data for alleles from IMSR strain data
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Publication
- | J:148605
     
First Author: Wellcome Trust Sanger Institute
Year: 2009
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by the Wellcome Trust Sanger Institute
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Publication
18799693 | J:142754
First Author: Hansen GM
Year: 2008
Journal: Genome Res
Title: Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Volume: 18
Issue: 10
Pages: 1670-9
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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:85000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
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Publication
16141072 | J:99680
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
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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
- | J:23000
       
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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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
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: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:326541
       
First Author: Cyagen Biosciences Inc.
Year: 2022
Title: Cyagen Biosciences 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
21267068 | J:153498
First Author: Diez-Roux G
Year: 2011
Journal: PLoS Biol
Title: A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Volume: 9
Issue: 1
Pages: e1000582
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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:57747
     
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
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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: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: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: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:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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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: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:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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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: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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Publication
31624125 | -
First Author: Huang W
Year: 2019
Journal: Proc Natl Acad Sci U S A
Title: Structural and functional studies of TBC1D23 C-terminal domain provide a link between endosomal trafficking and PCH.
Volume: 116
Issue: 45
Pages: 22598-22608
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Publication
28823706 | -
First Author: Marin-Valencia I
Year: 2017
Journal: Am J Hum Genet
Title: Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
Volume: 101
Issue: 3
Pages: 441-450
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DO Term
DOID:0112324 | pontocerebellar hypoplasia type 11
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Protein Domain
IPR045799 | TBC1D23_C
Type: Domain
Description: This entry represents the C-terminal domain of TBC1D23 which contains the residues for specific FAM21 binding and for the cargo of endosome-derived carriers. It adopts a fold similarto the Pleckstrin homology (PH) domain. Mutations in this protein, and particularly in this domain, are linked with Pontocerebellar hypoplasia (PCH) [, , ], suggesting that the TBC1D23 C-terminal domain is required for neuronal growth and brain development.TBC1 domain family member 23 (TBC1D23) is a catalytically inactive member of a family of Rab GTPase-activating proteins (GAPs) which plays a role in endosome-to-Golgi trafficking and is important for normal brain development, especially in axonal and dendritic growth. It functions as a bridging factor between golgin-97/245 and the FAM21 subunit of the WASH (Wiskott-Aldrich syndrome protein and SCAR homologue) complex on endosomal vesicles []. Mutations of the TBC1D23 gene cause pontocerebellar hypoplasia and alter cortical development [].
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Protein
Q9CYI0
Organism: Mus musculus/domesticus
Length: 393  
Fragment?: false
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Protein
A0PJK9
Organism: Mus musculus/domesticus
Length: 393  
Fragment?: false
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Protein
Q3TUY5
Organism: Mus musculus/domesticus
Length: 285  
Fragment?: true
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Protein
B1AQG3
Organism: Mus musculus/domesticus
Length: 214  
Fragment?: true
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Protein
J3KMQ6
Organism: Mus musculus/domesticus
Length: 393  
Fragment?: false
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Protein Domain
IPR028280 | Njmu-R1
Type: Family
Description: This entry represents the eukaryotic protein Njmu-R1, which may play a role in spermatogenesis. In humans, it is found in chromosome 17 open reading frame 75 (C17orf75). It forms a complex with WDR11, which acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1 [].
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Publication
29426865 | -
First Author: Navarro Negredo P
Year: 2018
Journal: Nat Commun
Title: The WDR11 complex facilitates the tethering of AP-1-derived vesicles.
Volume: 9
Issue: 1
Pages: 596
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