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Search results 101 to 200 out of 231 for Rab8a

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Type Details Score
Publication
20551175 | J:161201
First Author: Gao N
Year: 2010
Journal: Genes Dev
Title: Cdx2 regulates endo-lysosomal function and epithelial cell polarity.
Volume: 24
Issue: 12
Pages: 1295-305
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Publication
30626697 | J:273130
First Author: Ding W
Year: 2019
Journal: J Neurosci
Title: Cenpj Regulates Cilia Disassembly and Neurogenesis in the Developing Mouse Cortex.
Volume: 39
Issue: 11
Pages: 1994-2010
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Publication
29330353 | J:260459
First Author: Azizoglu DB
Year: 2017
Journal: Genes Dev
Title: Afadin and RhoA control pancreatic endocrine mass via lumen morphogenesis.
Volume: 31
Issue: 23-24
Pages: 2376-2390
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Publication
1981054 | J:10993
First Author: Saunders AM
Year: 1990
Journal: Genomics
Title: A molecular genetic linkage map of mouse chromosome 7.
Volume: 8
Issue: 3
Pages: 525-35
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Publication
- | J:238766
     
First Author: Shanghai Model Organisms Center
Year: 2017
Journal: MGI Direct Data Submission
Title: Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China
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Publication
20059953 | J:156017
First Author: Yokoyama S
Year: 2009
Journal: Dev Cell
Title: A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58.
Volume: 17
Issue: 6
Pages: 836-48
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Publication
- | J:188991
     
First Author: The Jackson Laboratory
Year: 2012
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by The Jackson Laboratory
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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: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
- | J:211773
     
First Author: Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC)
Year: 2014
Journal: Database Release
Title: Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database
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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:155856
       
First Author: The Gene Ontology Consortium
Year: 2014
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs
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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
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
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:23000
       
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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Publication
- | J:293217
       
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
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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: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:60000
       
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping
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Publication
- | J:342605
       
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
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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: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
30208326 | J:271714
First Author: Luo L
Year: 2018
Journal: Cell Rep
Title: TLR Crosstalk Activates LRP1 to Recruit Rab8a and PI3Kγ for Suppression of Inflammatory Responses.
Volume: 24
Issue: 11
Pages: 3033-3044
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Publication
32303654 | -
First Author: Tang D
Year: 2020
Journal: Proc Natl Acad Sci U S A
Title: Cryo-EM structure of C9ORF72-SMCR8-WDR41 reveals the role as a GAP for Rab8a and Rab11a.
Volume: 117
Issue: 18
Pages: 9876-9883
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Publication
17507647 | -
First Author: Roland JT
Year: 2007
Journal: Mol Biol Cell
Title: Myosin Vb interacts with Rab8a on a tubular network containing EHD1 and EHD3.
Volume: 18
Issue: 8
Pages: 2828-37
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Publication
22219378 | -
First Author: Hokanson DE
Year: 2012
Journal: Mol Biol Cell
Title: EPI64 interacts with Slp1/JFC1 to coordinate Rab8a and Arf6 membrane trafficking.
Volume: 23
Issue: 4
Pages: 701-15
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Allele
Rab8a<em1Smoc> | MGI:7291954
Name: RAB8A, member RAS oncogene family; endonuclease-mediated mutation 1, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Conditional ready, No functional change
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Publication
11856727 | J:83919
First Author: Fukuda M
Year: 2002
Journal: J Biol Chem
Title: Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport.
Volume: 277
Issue: 14
Pages: 12432-6
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Publication
27103069 | J:233688
First Author: Sellier C
Year: 2016
Journal: EMBO J
Title: Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death.
Volume: 35
Issue: 12
Pages: 1276-97
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Publication
16923123 | J:123368
First Author: Itoh T
Year: 2006
Journal: Genes Cells
Title: Screening for target Rabs of TBC (Tre-2/Bub2/Cdc16) domain-containing proteins based on their Rab-binding activity.
Volume: 11
Issue: 9
Pages: 1023-37
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Publication
20805890 | -
First Author: Rivero O
Year: 2010
Journal: PLoS One
Title: Impact of the AHI1 gene on the vulnerability to schizophrenia: a case-control association study.
Volume: 5
Issue: 8
Pages: e12254
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Publication
20045148 | -
First Author: Prior MJ
Year: 2010
Journal: Metabolism
Title: The characterization of Abelson helper integration site-1 in skeletal muscle and its links to the metabolic syndrome.
Volume: 59
Issue: 7
Pages: 1057-64
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Publication
22416225 | -
First Author: Cheng W
Year: 2012
Journal: PLoS Pathog
Title: Structural insights into a unique Legionella pneumophila effector LidA recognizing both GDP and GTP bound Rab1 in their active state.
Volume: 8
Issue: 3
Pages: e1002528
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Publication
22011575 | -
First Author: Schoebel S
Year: 2011
Journal: Proc Natl Acad Sci U S A
Title: Protein LidA from Legionella is a Rab GTPase supereffector.
Volume: 108
Issue: 44
Pages: 17945-50
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Protein Domain
IPR041463 | LidA_long_CC
Type: Domain
Description: LidA, another Rab1-interacting bacterial effector protein [], is translocated by Legionella into the host cytosol at the beginning of infection, and it localized to the Legionella-containing vacuole (LCV) at the cytosolic surface []. It has been shown that tight interaction with Rab1 allows LidA to facilitate the Legionella targeting factor (DrrA/SidM)-catalyzed release of Rab1 from GDP dissociation inhibitors (GDI) []. The base of the protein is formed by two antiparallel coiled-coil structures forming a long coiled-coil domain. This region of LidA interacts with switch and interswitch regions of Rab1 []the nucleotide binding pocket of Rab8a [], hence blocking access to the GDP/GTP-binding site to a great extent [].
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Protein Domain
IPR035832 | AHI1_SH3
Type: Domain
Description: Jouberin, also called AHI-1, is expressed in high levels in the brain, gonad tissues, and skeletal muscle. It is an adaptor protein that interacts with the small GTPase Rab8a and regulates it distribution and function, affecting cilium formation and vesicle transport []. Mutations in the AHI-1 gene can cause Joubert syndrome, a disorder characterized by brainstem malformations, cerebellar aplasia/hypoplasia, and retinal dystrophy []. AHI-1 variation is also associated with susceptibility to schizophrenia []and type 2 diabetes mellitus progression []. AHI-1 contains WD40 and SH3 domains. This entry includes the SH3 domain of jouberin.
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Publication
22908308 | J:191891
First Author: Chen Y
Year: 2012
Journal: J Cell Biol
Title: Rab10 and myosin-Va mediate insulin-stimulated GLUT4 storage vesicle translocation in adipocytes.
Volume: 198
Issue: 4
Pages: 545-60
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Publication
29125462 | J:255588
   
First Author: Steger M
Year: 2017
Journal: Elife
Title: Systematic proteomic analysis of LRRK2-mediated Rab GTPase phosphorylation establishes a connection to ciliogenesis.
Volume: 6
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Publication
18694559 | J:233579
First Author: Tsang WY
Year: 2008
Journal: Dev Cell
Title: CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease.
Volume: 15
Issue: 2
Pages: 187-97
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Publication
37475549 | J:341535
First Author: Li L
Year: 2023
Journal: Acta Biochim Biophys Sin (Shanghai)
Title: A direct interaction between CENTLEIN and RABIN8 is required for primary cilium formation.
Volume: 55
Issue: 9
Pages: 1434-1444
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Publication
33976349 | J:359823
First Author: Sakane A
Year: 2021
Journal: Commun Biol
Title: JRAB/MICAL-L2 undergoes liquid-liquid phase separation to form tubular recycling endosomes.
Volume: 4
Issue: 1
Pages: 551
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Protein
Q68EF0
Organism: Mus musculus/domesticus
Length: 428  
Fragment?: false
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Protein
A0A1W2P7S9
Organism: Mus musculus/domesticus
Length: 65  
Fragment?: true
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Protein
D3YZN2
Organism: Mus musculus/domesticus
Length: 57  
Fragment?: true
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Protein
A0A1W2P6M4
Organism: Mus musculus/domesticus
Length: 149  
Fragment?: true
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Protein
Q8BR32
Organism: Mus musculus/domesticus
Length: 30  
Fragment?: true
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Publication
12221131 | -
First Author: Hattula K
Year: 2002
Journal: Mol Biol Cell
Title: A Rab8-specific GDP/GTP exchange factor is involved in actin remodeling and polarized membrane transport.
Volume: 13
Issue: 9
Pages: 3268-80
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Publication
18367542 | -
First Author: Nakase Y
Year: 2008
Journal: Mol Biol Cell
Title: Meiotic spindle pole bodies acquire the ability to assemble the spore plasma membrane by sequential recruitment of sporulation-specific components in fission yeast.
Volume: 19
Issue: 6
Pages: 2476-87
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Protein Domain
IPR040351 | RAB3IL/RAB3IP/Sec2
Type: Family
Description: Proteins in this entry are guanine nucleotide exchange factors (GEF), including RAB3IL1/RAB3IP from animals, Sec2 from budding yeasts and Spo13 from fission yeasts. The mammalian guanine nucleotide exchange factor for Rab-3A (RAB3IL1) may activate RAB3A, a GTPase that regulates synaptic vesicle exocytosis []. The Rab-3A-interacting protein (RAB3IP) may activate RAB8A and RAB8B, which reorganizes actin and microtubules to form new cell surface domains [].In the yeast Saccharomyces cerevisiae, Rab guanine nucleotide exchange factor Sec2 activates Sec4 by catalyzing the dissociation of GDP from Sec4. Activation of Sec4 by Sec2 is needed for the directed transport of vesicles to sites of exocytosis []. In the yeast Schizosaccharomyces pombe, sporulation-specific protein 13 (Spo13) is required for sporulation. During sporulation the spindle pole body (SPB) forms outer plaques, an essential precursor to the assembly of the forespore membrane (FSM). SPB associates with Spo13 and Spo2, and without these genes the SPB is not modified and the FSM does not form [].
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Publication
30398148 | J:316366
   
First Author: Dhekne HS
Year: 2018
Journal: Elife
Title: A pathway for Parkinson's Disease LRRK2 kinase to block primary cilia and Sonic hedgehog signaling in the brain.
Volume: 7
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Publication
25527643 | J:218246
First Author: Sobajima T
Year: 2014
Journal: Biol Open
Title: Rab11a is required for apical protein localisation in the intestine.
Volume: 4
Issue: 1
Pages: 86-94
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Publication
33727250 | J:334026
 
First Author: Dhekne HS
Year: 2021
Journal: Life Sci Alliance
Title: LRRK2-phosphorylated Rab10 sequesters Myosin Va with RILPL2 during ciliogenesis blockade.
Volume: 4
Issue: 5
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Publication
30209220 | J:266343
First Author: Eguchi T
Year: 2018
Journal: Proc Natl Acad Sci U S A
Title: LRRK2 and its substrate Rab GTPases are sequentially targeted onto stressed lysosomes and maintain their homeostasis.
Volume: 115
Issue: 39
Pages: E9115-E9124
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Publication
33459343 | J:305195
First Author: Malik AU
Year: 2021
Journal: Biochem J
Title: Deciphering the LRRK code: LRRK1 and LRRK2 phosphorylate distinct Rab proteins and are regulated by diverse mechanisms.
Volume: 478
Issue: 3
Pages: 553-578
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Publication
23100251 | -
First Author: Sakane A
Year: 2012
Journal: J Biol Chem
Title: Rab13 small G protein and junctional Rab13-binding protein (JRAB) orchestrate actin cytoskeletal organization during epithelial junctional development.
Volume: 287
Issue: 51
Pages: 42455-68
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Protein
Q8VDV3
Organism: Mus musculus/domesticus
Length: 383  
Fragment?: false
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Publication
23890175 | J:201396
First Author: Sakane A
Year: 2013
Journal: Genes Cells
Title: Junctional Rab13-binding protein (JRAB) regulates cell spreading via filamins.
Volume: 18
Issue: 9
Pages: 810-22
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Protein
Q6DFW0
Organism: Mus musculus/domesticus
Length: 481  
Fragment?: false
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Protein
A0A571BDP7
Organism: Mus musculus/domesticus
Length: 432  
Fragment?: false
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Protein
A0A1W2P7K6
Organism: Mus musculus/domesticus
Length: 460  
Fragment?: false
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Protein
Q8K3B2
Organism: Mus musculus/domesticus
Length: 317  
Fragment?: false
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Protein
D3YXL8
Organism: Mus musculus/domesticus
Length: 86  
Fragment?: true
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Protein
D3Z585
Organism: Mus musculus/domesticus
Length: 310  
Fragment?: false
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Protein
A2ANZ2
Organism: Mus musculus/domesticus
Length: 317  
Fragment?: false
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Protein
D3YZ86
Organism: Mus musculus/domesticus
Length: 430  
Fragment?: false
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Publication
9199166 | -
First Author: Walch-Solimena C
Year: 1997
Journal: J Cell Biol
Title: Sec2p mediates nucleotide exchange on Sec4p and is involved in polarized delivery of post-Golgi vesicles.
Volume: 137
Issue: 7
Pages: 1495-509
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Publication
21944778 | -
First Author: DeJesus-Hernandez M
Year: 2011
Journal: Neuron
Title: Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
Volume: 72
Issue: 2
Pages: 245-56
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Publication
34297726 | -
First Author: Nörpel J
Year: 2021
Journal: PLoS Biol
Title: Structure of the human C9orf72-SMCR8 complex reveals a multivalent protein interaction architecture.
Volume: 19
Issue: 7
Pages: e3001344
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Publication
21795389 | -
First Author: Abou-Zeid N
Year: 2011
Journal: Mol Biol Cell
Title: MICAL-like1 mediates epidermal growth factor receptor endocytosis.
Volume: 22
Issue: 18
Pages: 3431-41
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Publication
21951725 | -
First Author: Rahajeng J
Year: 2012
Journal: Traffic
Title: MICAL-L1 is a tubular endosomal membrane hub that connects Rab35 and Arf6 with Rab8a.
Volume: 13
Issue: 1
Pages: 82-93
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Publication
18413246 | -
 
First Author: Nishimura N
Year: 2008
Journal: Methods Enzymol
Title: Identification and characterization of JRAB/MICAL-L2, a junctional Rab13-binding protein.
Volume: 438
Pages: 141-53
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Publication
20585517 | -
First Author: Sharma M
Year: 2010
Journal: Commun Integr Biol
Title: MICAL-L1: An unusual Rab effector that links EHD1 to tubular recycling endosomes.
Volume: 3
Issue: 2
Pages: 181-3
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Publication
21596566 | -
First Author: Grigoriev I
Year: 2011
Journal: Curr Biol
Title: Rab6, Rab8, and MICAL3 cooperate in controlling docking and fusion of exocytotic carriers.
Volume: 21
Issue: 11
Pages: 967-74
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Protein Domain
IPR028563 | MICAL-L
Type: Family
Description: MICAL (molecule Interacting with CasL) family is a group of multifunctional proteins that contain the calponin homology (CH), a LIM and a coiled-coil (CC) domains []. They interact with receptors on the target cells, help recruiting other proteins, and promote the modulation of their activity with respect to the downstream events []. There is only one MICAL protein found in Drosophila [], while there are 5 MICAL (MICAL1/2/3, MICAL-like1/2) isoforms found in vertebrates []. Drosophila MICAL and vertebrate MICAL1/2/3 contain an extra N-terminal FAD (flavin adenine dinucleotide binding monooxygenase) domain, whose structure resembles that of a flavo-enzyme, p-hydroxybenzoate hydroxylase []. Drosophila MICAL has an NADPH-dependent actin depolymerising activity []. Vertebrate MICALs are also shown to be effectors of small Rab GTPases, which play important roles in vesicular trafficking []. MICAL-like protein 1 (MICAL-L1) interacts with small G proteins and regulates endocytic recycling of receptors [, ]. It forms a complex with Rab13 that regulates EGFR trafficking at late endocytic pathways []. MICAL-L1 also forms a complex with Arf6 that regulates Rab8a function. MICAL-L1 can be regulated by Rab35 [].MICAL-like protein 2 (MICAL-L2, also known as JRAB) interacts with Rab13 []and Rab8 to regulate the endocytic recycling of occludin, claudin and E-cadherin to the plasma membrane. It may thereby regulate the establishment of tight junctions and adherens junctions []. MICAL-L2/JRAB also regulates the reorganisation of the actin cytoskeleton through interactions with actinin-1, actinin-4, and filamentous actin [], and via filamins during cell spreading [].
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Protein Domain
IPR029941 | MICAL3
Type: Family
Description: MICAL (molecule Interacting with CasL) family is a group of multifunctional proteins that contain the calponin homology (CH), a LIM and a coiled-coil (CC) domains []. They interact with receptors on the target cells, help recruiting other proteins, and promote the modulation of their activity with respect to the downstream events []. There is only one MICAL protein found in Drosophila [], while there are 5 MICAL (MICAL1/2/3, MICAL-like1/2) isoforms found in vertebrates []. Drosophila MICAL and vertebrate MICAL1/2/3 contain an extra N-terminal FAD (flavin adenine dinucleotide binding monooxygenase) domain, whose structure resembles that of a flavo-enzyme, p-hydroxybenzoate hydroxylase []. Drosophila MICAL has an NADPH-dependent actin depolymerising activity []. Vertebrate MICALs are also shown to be effectors of small Rab GTPases, which play important roles in vesicular trafficking []. This entry represents MICAL3. MICAL3 links Rab8A and ELKS (a Rab6-interacting cortical factor). The FAD domain of MICAL3 is required to regulate its own turnover and the associated remodelling of vesicle-docking protein complexes []. Also included in MICAL1 from Danio rerio, which is thought to be an [F-actin]-methionine sulfoxide oxidase.
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Protein Domain
IPR027819 | C9orf72
Type: Family
Description: The entry includes Guanine nucleotide exchange factor C9orf72 protein, a component of the C9orf72-SMCR8 complex, which has guanine nucleotide exchange factor activity []and regulates autophagy [, ]. The C9orf72 protein is proposed to be a catalytic component for the exchange of GDP to GTP and promoting autophagosome maturation by converting inactive GDP-bound RAB8A and RAB39B into their active forms []. Defects in the C9orf72 gene are the cause of frontotemporal dementia and/or amyotrophic lateral sclerosis (FTDALS) which is an autosomal dominant neurodegenerative disorder. The disorder is caused by a large expansion of a GGGGCC hexanucleotide within the first C9orf72 intron located between the first and the second non-coding exons. The expansion leads to the loss of transcription of one of the two transcripts encoding isoform 1 and to the formation of nuclear RNA foci []. This family is found in eukaryotes.C9orf72 contains the DENN domain, which forms a heart-shaped structure (), with the N-terminal residues forming one lobe and the C-terminal residues forming the second one. The tripartite DENN (after differentially expressed in neoplastic versus normal cells) domain is found in several proteins that share common structural features and have been shown to be guanine nucleotide exchange factors (GEFs) for Rab GTPases, which are regulators of practically all membrane trafficking events in eukaryotes [, ].
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Publication
26471730 | J:227761
First Author: Lai YC
Year: 2015
Journal: EMBO J
Title: Phosphoproteomic screening identifies Rab GTPases as novel downstream targets of PINK1.
Volume: 34
Issue: 22
Pages: 2840-61
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Publication
33478991 | J:303779
First Author: Urrutia PJ
Year: 2021
Journal: J Neurosci
Title: Tuba Activates Cdc42 during Neuronal Polarization Downstream of the Small GTPase Rab8a.
Volume: 41
Issue: 8
Pages: 1636-1649
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Publication
27193190 | J:240578
First Author: Sullivan PM
Year: 2016
Journal: Acta Neuropathol Commun
Title: The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway.
Volume: 4
Issue: 1
Pages: 51
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Protein
Q3V2Z9
Organism: Mus musculus/domesticus
Length: 70  
Fragment?: true
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Protein
A0A140LJA5
Organism: Mus musculus/domesticus
Length: 65  
Fragment?: true
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Protein
A0A140LID8
Organism: Mus musculus/domesticus
Length: 56  
Fragment?: true
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