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Search results 201 to 258 out of 258 for Herc1

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0.039s
Type Details Score
GXD Expression  
Probe: MGI:4417582
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1763923
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825355
Age: embryonic day 14.5
Image: euxassay_010717_18
Specimen Label: euxassay_010717_18
Detected: true
Specimen Num: 18
GXD Expression  
Probe: MGI:4417582
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1763923
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825355
Age: embryonic day 14.5
Image: euxassay_010717_19
Specimen Label: euxassay_010717_19
Detected: true
Specimen Num: 19
GXD Expression  
Probe: MGI:4417582
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1763923
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825355
Age: embryonic day 14.5
Image: euxassay_010717_20
Specimen Label: euxassay_010717_20
Detected: true
Specimen Num: 20
GXD Expression  
Probe: MGI:4417582
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1763923
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825355
Age: embryonic day 14.5
Image: euxassay_010717_21
Specimen Label: euxassay_010717_21
Detected: true
Specimen Num: 21
GXD Expression  
Probe: MGI:4417582
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1763923
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825355
Age: embryonic day 14.5
Image: euxassay_010717_22
Specimen Label: euxassay_010717_22
Detected: true
Specimen Num: 22
Publication
First Author: Kannan M
Year: 2017
Journal: Proc Natl Acad Sci U S A
Title: WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.
Volume: 114
Issue: 44
Pages: E9308-E9317
Publication
First Author: Butterfield NC
Year: 2021
Journal: Nat Commun
Title: Accelerating functional gene discovery in osteoarthritis.
Volume: 12
Issue: 1
Pages: 467
Publication      
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
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: MGC Data curation in Mouse Genome Informatics
Publication
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
Publication      
First Author: MGI and IMPC
Year: 2017
Journal: MGI Direct Data Submission
Title: MGI Curation of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC)
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Function or Process or Component Unknown following Literature Review
Publication
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
Publication  
First Author: Bedogni F
Year: 2021
Journal: Front Mol Neurosci
Title: Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development.
Volume: 14
Pages: 686034
Publication      
First Author: International Mouse Strain Resource
Year: 2014
Journal: Database Download
Title: MGI download of germline transmission data for alleles from IMSR strain data
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: Cyagen Biosciences Inc.
Year: 2022
Title: Cyagen Biosciences Website.
Publication      
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
Publication
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
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Chromosome assignment of mouse genes using the Mouse Genome Sequencing Consortium (MGSC) assembly and the ENSEMBL Database
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: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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: 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: Adams DJ
Year: 2024
Journal: Nature
Title: Genetic determinants of micronucleus formation in vivo.
Volume: 627
Issue: 8002
Pages: 130-136
Publication        
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
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: 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
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).
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
Publication      
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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
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
Publication      
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
Publication
First Author: Utine GE
Year: 2017
Journal: Eur J Med Genet
Title: HERC1 mutations in idiopathic intellectual disability.
Volume: 60
Issue: 5
Pages: 279-283
Publication
First Author: Chong-Kopera H
Year: 2006
Journal: J Biol Chem
Title: TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase.
Volume: 281
Issue: 13
Pages: 8313-6
Publication
First Author: Bachiller S
Year: 2015
Journal: Cell Mol Life Sci
Title: The HERC1 E3 Ubiquitin Ligase is essential for normal development and for neurotransmission at the mouse neuromuscular junction.
Volume: 72
Issue: 15
Pages: 2961-71
Publication
First Author: Aggarwal S
Year: 2016
Journal: Am J Med Genet A
Title: A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.
Volume: 170
Issue: 7
Pages: 1868-73
Allele
Name: HECT and RLD domain containing E3 ubiquitin protein ligase family member 1; endonuclease-mediated mutation 1, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Null/knockout
Allele  
Name: HECT and RLD domain containing E3 ubiquitin protein ligase family member 1; tambaleante
Allele Type: Spontaneous
Publication
First Author: Rosa JL
Year: 1997
Journal: Oncogene
Title: A giant protein that stimulates guanine nucleotide exchange on ARF1 and Rab proteins forms a cytosolic ternary complex with clathrin and Hsp70.
Volume: 15
Issue: 1
Pages: 1-6
Publication
First Author: Rosa JL
Year: 1996
Journal: EMBO J
Title: p619, a giant protein related to the chromosome condensation regulator RCC1, stimulates guanine nucleotide exchange on ARF1 and Rab proteins.
Volume: 15
Issue: 16
Pages: 4262-73
Publication  
First Author: Ruiz R
Year: 2016
Journal: Front Neuroanat
Title: HERC 1 Ubiquitin Ligase Mutation Affects Neocortical, CA3 Hippocampal and Spinal Cord Projection Neurons: An Ultrastructural Study.
Volume: 10
Pages: 42
Protein Domain
Type: Domain
Description: This SPRY domain is found in the HERC1, a large protein related to chromosome condensation regulator RCC1. It is widely expressed in many tissues, playing an important role in intracellular membrane trafficking in the cytoplasm as well as Golgi apparatus [, ]. It is both a ubiquitin-protein ligase and a guanine nucleotide exchange factor for ARF and Rab family GTPases. Like other HERC proteins, HERC1 also interacts with tuberous sclerosis 2 (TSC2, tuberin), which suppresses cell growth, and results in the destabilization of TSC2 []. HERC1 is essential for neurotransmitter release and neuronal activity [, ]. Mutations in HERC1 lead to syndromic intellectual disability [, ].
Strain
Attribute String: coisogenic, mutant strain, spontaneous mutation
Genotype
Symbol: Herc1/Herc1
Background: involves: DW/J
Zygosity: hm
Has Mutant Allele: true
Publication
First Author: Roy DS
Year: 2021
Journal: Neuron
Title: Anterior thalamic dysfunction underlies cognitive deficits in a subset of neuropsychiatric disease models.
Volume: 109
Issue: 16
Pages: 2590-2603.e13
Protein
Organism: Mus musculus/domesticus
Length: 367  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 4859  
Fragment?: false
Publication
First Author: Gerhard DS
Year: 2004
Journal: Genome Res
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Volume: 14
Issue: 10B
Pages: 2121-7