Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, western clawed |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
Cilia- and flagella-associated protein 53 (CFAP53), also known as coiled-coil domain-containing protein 11 (CCDC11), is a novel centriolar satellite protein essential for the assembly and function of motile cilia and establishment of left-right asymmetry [, ]. In zebrafish, it is required for cilia rotation specifically in Kupffer's vesicle, the zebrafish laterality organ []. |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Publication |
First Author: |
Wu B |
Year: |
2021 |
Journal: |
Front Cell Dev Biol |
Title: |
Essential Role of CFAP53 in Sperm Flagellum Biogenesis. |
Volume: |
9 |
|
Pages: |
676910 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ide T |
Year: |
2020 |
Journal: |
PLoS Genet |
Title: |
CFAP53 regulates mammalian cilia-type motility patterns through differential localization and recruitment of axonemal dynein components. |
Volume: |
16 |
Issue: |
12 |
Pages: |
e1009232 |
|
•
•
•
•
•
|
Publication |
First Author: |
Noël ES |
Year: |
2016 |
Journal: |
Hum Mutat |
Title: |
A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function. |
Volume: |
37 |
Issue: |
2 |
Pages: |
194-200 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
50
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Silva E |
Year: |
2016 |
Journal: |
Mol Biol Cell |
Title: |
Ccdc11 is a novel centriolar satellite protein essential for ciliogenesis and establishment of left-right asymmetry. |
Volume: |
27 |
Issue: |
1 |
Pages: |
48-63 |
|
•
•
•
•
•
|
Publication |
First Author: |
Narasimhan V |
Year: |
2015 |
Journal: |
Hum Mutat |
Title: |
Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer. |
Volume: |
36 |
Issue: |
3 |
Pages: |
307-18 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
514
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
428
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Lu H |
Year: |
2024 |
Journal: |
Development |
Title: |
Localisation and function of key axonemal microtubule inner proteins and dynein docking complex members reveal extensive diversity among vertebrate motile cilia. |
Volume: |
151 |
Issue: |
14 |
|
|
•
•
•
•
•
|
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: |
Zhang R |
Year: |
2022 |
Journal: |
Development |
Title: |
CCDC38 is required for sperm flagellum biogenesis and male fertility in mice. |
Volume: |
149 |
Issue: |
11 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Ho KH |
Year: |
2023 |
Journal: |
Dev Cell |
Title: |
Choroid plexuses carry nodal-like cilia that undergo axoneme regression from early adult stage. |
Volume: |
58 |
Issue: |
23 |
Pages: |
2641-2651.e6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhou L |
Year: |
2023 |
Journal: |
Cell |
Title: |
Structures of sperm flagellar doublet microtubules expand the genetic spectrum of male infertility. |
Volume: |
186 |
Issue: |
13 |
Pages: |
2897-2910.e19 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chen Z |
Year: |
2023 |
Journal: |
Cell |
Title: |
De novo protein identification in mammalian sperm using in situ cryoelectron tomography and AlphaFold2 docking. |
Volume: |
186 |
Issue: |
23 |
Pages: |
5041-5053.e19 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tai L |
Year: |
2023 |
Journal: |
Cell Discov |
Title: |
In-cell structural insight into the stability of sperm microtubule doublet. |
Volume: |
9 |
Issue: |
1 |
Pages: |
116 |
|
•
•
•
•
•
|
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: |
Mouse Genome Informatics and the Consortium: Deciphering the Mechanisms of Developmental Disorders (DMDD) |
Year: |
2017 |
Journal: |
Database Release |
Title: |
Obtaining and Loading Phenotype Annotations from Deciphering the Mechanisms of Developmental Disorders (DMDD) |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Perez-Garcia V |
Year: |
2018 |
Journal: |
Nature |
Title: |
Placentation defects are highly prevalent in embryonic lethal mouse mutants. |
Volume: |
555 |
Issue: |
7697 |
Pages: |
463-468 |
|
•
•
•
•
•
|
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: |
University of California, Davis |
Year: |
2010 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the KOMP project by the University of California, Davis |
|
|
|
|
•
•
•
•
•
|
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: |
2003 |
Journal: |
Database Download |
Title: |
Integrating Computational Gene Models into the Mouse Genome Informatics (MGI) Database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Function or Process or Component Unknown following Literature Review |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2016 |
|
Title: |
Automatic assignment of GO terms using logical inference, based on on inter-ontology links |
|
|
|
|
•
•
•
•
•
|
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: |
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: |
Helmholtz Zentrum Muenchen GmbH |
Year: |
2010 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the EUCOMM and EUCOMMTools projects by the Helmholtz Zentrum Muenchen GmbH (Hmgu) |
|
|
|
|
•
•
•
•
•
|
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: |
Adams DJ |
Year: |
2024 |
Journal: |
Nature |
Title: |
Genetic determinants of micronucleus formation in vivo. |
Volume: |
627 |
Issue: |
8002 |
Pages: |
130-136 |
|
•
•
•
•
•
|
Publication |
First Author: |
MGD Nomenclature Committee |
Year: |
1995 |
|
Title: |
Nomenclature Committee Use |
|
|
|
|
•
•
•
•
•
|
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: |
Cyagen Biosciences Inc. |
Year: |
2022 |
|
Title: |
Cyagen Biosciences Website. |
|
|
|
|
•
•
•
•
•
|
Publication |
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 |
|
|
|
|
•
•
•
•
•
|
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: |
The Gene Ontology Consortium |
Year: |
2010 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
|
|
|
|
•
•
•
•
•
|
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: |
MGI Genome Annotation Group and UniGene Staff |
Year: |
2015 |
Journal: |
Database Download |
Title: |
MGI-UniGene Interconnection Effort |
|
|
|
|
•
•
•
•
•
|
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 (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
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 |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
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 Genome 430 2.0 Array Platform |
|
|
|
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion 23, Hiroshi Hamada |
Allele Type: |
Transgenic |
Attribute String: |
Inserted expressed sequence, Reporter |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, mutant strain, transgenic |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion 19, Hiroshi Hamada |
Allele Type: |
Transgenic |
Attribute String: |
Inserted expressed sequence, Reporter |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion 66, Hiroshi Hamada |
Allele Type: |
Transgenic |
Attribute String: |
Inserted expressed sequence, Reporter |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant stock, transgenic |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
This entry includes CFAP53 and TCHP.Cilia- and flagella-associated protein 53 (CFAP53), also known as coiled-coil domain-containing protein 11 (CCDC11), is a novel centriolar satellite protein essential for the assembly and function of motile cilia and establishment of left-right asymmetry [, ]. In zebrafish, it is required for cilia rotation specifically in Kupffer's vesicle, the zebrafish laterality organ [].Trichoplein keratin filament-binding protein (TCHP) may act as a 'capping' or 'branching' protein for keratin filaments in the cell periphery. It may regulate K8/K18 filament and desmosome organisation mainly at the apical or peripheral regions of simple epithelial cells []. In human, it acts as a tumor suppressor which has the ability to inhibit cell growth and be pro-apoptotic during cell stress. It inhibits cell growth in bladder and prostate cancer cells by a down-regulation of HSPB1 by inhibiting its phosphorylation []. |
|
•
•
•
•
•
|
Publication |
First Author: |
Nishizawa M |
Year: |
2005 |
Journal: |
J Cell Sci |
Title: |
Identification of trichoplein, a novel keratin filament-binding protein. |
Volume: |
118 |
Issue: |
Pt 5 |
Pages: |
1081-90 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
497
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Vecchione A |
Year: |
2009 |
Journal: |
Oncogene |
Title: |
MITOSTATIN, a putative tumor suppressor on chromosome 12q24.1, is downregulated in human bladder and breast cancer. |
Volume: |
28 |
Issue: |
2 |
Pages: |
257-69 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
215
 |
Fragment?: |
true |
|
•
•
•
•
•
|