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Search results 1 to 88 out of 88 for Clptm1

0.025s
Type Details Score
Gene
Type: gene
Organism: chimpanzee
Gene
Type: gene
Organism: dog, domestic
Gene
Type: gene
Organism: cattle
Gene
Type: gene
Organism: zebrafish
Gene
Type: gene
Organism: macaque, rhesus
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: frog, western clawed
Gene
Type: gene
Organism: rat
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Domain
Type: Family
Description: This entry includes cleft lip and palate transmembrane protein 1 (CLPTM1) and cleft lip and palate transmembrane protein 1-like protein (CLPTM1L, also known as CRR9). This entry also includes uncharacterised proteins from fungi and plants. Clefts of the lip and/or palate (CL/P) are some of the most common birth defects. They may be categorised into syndromic or non-syndromic types, with syndromic defects having an underlying chromosomal or teratogenic cause. Around 70% of clefts are non-syndromic and individuals have no typical physical or developmental abnormalities; these clefts generally show polygenetic behaviour and complex inheritance []. Studies have identified regions on chromosomes 19 and 11 which may be involved in non-syndromic cleft lip and palates; this included a novel gene on chromosome 19, cleft lip and palate-associated transmembrane protein 1 (CLPTM1) []. The Poliovirus receptor-related 1 gene (PVRL1), which is located on chromosome 11, has also been shown to associate with non-syndromic cleft lip and palates [, ].Human CLPTM1L is a scramblase that mediates the translocation glucosaminylphosphatidylinositol (alpha-D-GlcN-1-6-(1,2-diacyl-sn-glycero-3-phospho)-1D-myo-inositol, GlcN-PI) across the endoplasmic reticulum (ER) membrane, from the cytosolic leaflet to the luminal leaflet of the ER membrane, where it participates in the biosynthesis of glycosylphosphatidylinositol (GPI) []. It protects non-small cell lung cancer tumour cells from genotoxic apoptosis and may contribute to lung cancer risk [, ].
Publication
First Author: Yoshiura K
Year: 1998
Journal: Genomics
Title: Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate.
Volume: 54
Issue: 2
Pages: 231-40
Gene
Type: gene
Organism: human
Publication
First Author: Ge Y
Year: 2018
Journal: Neuron
Title: Clptm1 Limits Forward Trafficking of GABAA Receptors to Scale Inhibitory Synaptic Strength.
Volume: 97
Issue: 3
Pages: 596-610.e8
Protein
Organism: Mus musculus/domesticus
Length: 539  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 664  
Fragment?: false
Publication
First Author: Turhani D
Year: 2005
Journal: J Craniomaxillofac Surg
Title: Mutation analysis of CLPTM 1 and PVRL 1 genes in patients with non-syndromic clefts of lip, alveolus and palate.
Volume: 33
Issue: 5
Pages: 301-6
Publication
First Author: Sözen MA
Year: 2001
Journal: Nat Genet
Title: Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela.
Volume: 29
Issue: 2
Pages: 141-2
Publication
First Author: Sözen MA
Year: 2009
Journal: Genet Test Mol Biomarkers
Title: Mutation analysis of the PVRL1 gene in caucasians with nonsyndromic cleft lip/palate.
Volume: 13
Issue: 5
Pages: 617-21
Publication
First Author: James MA
Year: 2014
Journal: Cancer Res
Title: CRR9/CLPTM1L regulates cell survival signaling and is required for Ras transformation and lung tumorigenesis.
Volume: 74
Issue: 4
Pages: 1116-27
Publication
First Author: James MA
Year: 2012
Journal: PLoS One
Title: Functional characterization of CLPTM1L as a lung cancer risk candidate gene in the 5p15.33 locus.
Volume: 7
Issue: 6
Pages: e36116
Publication
First Author: Wang Y
Year: 2022
Journal: Proc Natl Acad Sci U S A
Title: Genome-wide CRISPR screen reveals CLPTM1L as a lipid scramblase required for efficient glycosylphosphatidylinositol biosynthesis.
Volume: 119
Issue: 14
Pages: e2115083119
Gene
Type: gene
Organism: dog, domestic
Gene
Type: gene
Organism: chimpanzee
Gene
Type: gene
Organism: cattle
Gene
Type: gene
Organism: chicken
Gene
Type: gene
Organism: zebrafish
Gene
Type: gene
Organism: macaque, rhesus
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
Publication
First Author: Takeuchi T
Year: 1997
Journal: J Immunol
Title: Transgenic expression of a novel thymic epithelial cell antigen stimulates abberant development of thymocytes.
Volume: 159
Issue: 2
Pages: 726-33
Publication
First Author: Takeuchi T
Year: 1995
Journal: Int Immunol
Title: Characterization of a 50 kDa surface membrane protein on thymic stromal cells as an important factor for early T cell development.
Volume: 7
Issue: 4
Pages: 583-90
Publication
First Author: Miyazawa H
Year: 1999
Journal: Biochim Biophys Acta
Title: Structure and promoter region of the surface membrane protein HS9 gene expressed on the thymic epithelial cells.
Volume: 1444
Issue: 3
Pages: 407-11
GXD Expression  
Probe: MGI:3807489
Assay Type: Immunohistochemistry
Annotation Date: 2008-09-24
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3552328
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:3807523
Age: postnatal adult
Note: Expression is in lymph node cells in the outer cortex.
Specimen Label: 3E
Detected: true
Specimen Num: 3
GXD Expression  
Probe: MGI:3807489
Assay Type: Immunohistochemistry
Annotation Date: 2008-09-24
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1752322
Pattern: Not Specified
Stage: TS22
Assay Id: MGI:3807503
Age: embryonic day 14.0
Note: Expression is in stromal cells.
Specimen Label: 2A
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:3807489
Assay Type: Immunohistochemistry
Annotation Date: 2008-09-24
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1930628
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:3807503
Age: postnatal week 5
Note: Expression is in the subcapsular area.
Specimen Label: 2C
Detected: true
Specimen Num: 2
GXD Expression  
Probe: MGI:3807489
Assay Type: Immunohistochemistry
Annotation Date: 2008-09-24
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1930628
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:3807523
Age: postnatal adult
Note: Expression is in the subcapsular area.
Specimen Label: 3A
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:3807489
Assay Type: Immunohistochemistry
Annotation Date: 2008-09-24
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3580928
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:3807523
Age: postnatal adult
Note: Expression is in white pulp lymphocytes outside the periarteriolar sheath.
Specimen Label: 3C
Detected: true
Specimen Num: 2
GXD Expression  
Probe: MGI:3807489
Assay Type: Immunohistochemistry
Annotation Date: 2008-09-24
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3586328
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:3807503
Age: postnatal week 5
Note: Expression is in some outer cortex areas.
Specimen Label: 2C
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:3807489
Assay Type: Immunohistochemistry
Annotation Date: 2008-09-24
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3586328
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:3807523
Age: postnatal adult
Specimen Label: 3A
Detected: true
Specimen Num: 1
Publication      
First Author: The Centre for Phenogenomics
Year: 2022
Journal: MGI Direct Data Submission
Title: Direct Data Submission for The Centre for Phenogenomics Alleles.
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: Araki K
Year: 1999
Journal: Cell Mol Biol (Noisy-le-grand)
Title: Exchangeable gene trap using the Cre/mutated lox system.
Volume: 45
Issue: 5
Pages: 737-50
Publication
First Author: Taniwaki T
Year: 2005
Journal: Dev Growth Differ
Title: Characterization of an exchangeable gene trap using pU-17 carrying a stop codon-beta geo cassette.
Volume: 47
Issue: 3
Pages: 163-72
Publication
First Author: Hansen J
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome.
Volume: 100
Issue: 17
Pages: 9918-22
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: Velocigene
Year: 2008
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals)
Publication      
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
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 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: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Rat to Mouse ISO GO annotation transfer
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: 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: Mouse Genome Informatics Scientific Curators
Year: 2000
Title: Gene Ontology Annotation by electronic association of SwissProt Keywords with GO terms
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: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
Publication        
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
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 (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
Publication      
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
Publication      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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 Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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
Allele
Name: cleft lip and palate associated transmembrane protein 1; endonuclease-mediated mutation 1, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Null/knockout