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 |
|
•
•
•
•
•
|
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 |
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