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Search results 201 to 227 out of 227 for Cep295

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Type Details Score
Protein Domain
IPR039893 | CEP120-like
Type: Family
Description: CEP120 is a centrosomal protein required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner []. It has been shown to interact with SPICE1 and CPAP []. This entry also includes CEP120-like proteins from plants and fungi, which do not have centrosomes.Mutations of the CEP120 gene cause short-rib thoracic dysplasia 13 with or without polydactyly (SRTD13) []and Joubert syndrome 31 (JBTS31) [].
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Publication
18689890 | J:139579
First Author: Turner LM
Year: 2008
Journal: Genetics
Title: Comparative analysis of testis protein evolution in rodents.
Volume: 179
Issue: 4
Pages: 2075-89
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Publication
23810536 | -
First Author: Comartin D
Year: 2013
Journal: Curr Biol
Title: CEP120 and SPICE1 cooperate with CPAP in centriole elongation.
Volume: 23
Issue: 14
Pages: 1360-6
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Publication
11941369 | J:78051
First Author: Collin GB
Year: 2002
Journal: Nat Genet
Title: Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.
Volume: 31
Issue: 1
Pages: 74-8
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Publication
22693585 | J:187422
First Author: Collin GB
Year: 2012
Journal: PLoS One
Title: The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway.
Volume: 7
Issue: 5
Pages: e37925
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Publication
32965218 | -
   
First Author: Chen C
Year: 2020
Journal: Elife
Title: Alstrom syndrome gene is a stem-cell-specific regulator of centriole duplication in the Drosophila testis.
Volume: 9
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Publication
32060285 | -
First Author: Atorino ES
Year: 2020
Journal: Nat Commun
Title: CEP44 ensures the formation of bona fide centriole wall, a requirement for the centriole-to-centrosome conversion.
Volume: 11
Issue: 1
Pages: 903
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Protein Domain
IPR029299 | ALMS_motif
Type: Domain
Description: This domain is found at the C terminus of centrosome-associated protein ALMS1, centrosomal protein of 295 kDa (CEP295, also known as KIAA1731) and (E2-independent) E3 ubiquitin-conjugating enzyme FATS (also known as C10orf90) [, ]. These proteins play a role in centrosomal functions. ALMS1 is implicated in ciliary function, cell cycle control, and intracellular transport. It interacts with alpha-actinin and components of the endosomal recycling pathway []. CEP295 is a centriole-enriched microtubule-binding protein involved in centriole biogenesis, essential for the generation of the distal portion of newborn centrioles and recruitment of centriolar proteins, such as POC1B, POC5 and CEP135 [, ].Centrosome-associated protein Alms1a, the Drosophila homologue of centrosome-associated protein ALMS1, plays critical role in ensuring centrosome duplication in asymmetrically dividing germline stem cells (GSCs), which is essential for the production of centrosomes and centrioles in all downstream germ cells []. This domain directly interacts with Klp10, a microtubule-depolymerizing kinesin of kinesin-13 family, at GSC centrosome []. Alms1a might recruit SAK for daughter centriole duplication [].
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Protein
Q8K4E0
Organism: Mus musculus/domesticus
Length: 3251  
Fragment?: false
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Protein
D2J0Y4
Organism: Mus musculus/domesticus
Length: 644  
Fragment?: false
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Protein
G3UZF7
Organism: Mus musculus/domesticus
Length: 691  
Fragment?: false
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Protein
Q3ULM5
Organism: Mus musculus/domesticus
Length: 607  
Fragment?: true
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Protein
A0A1D5RMI8
Organism: Mus musculus/domesticus
Length: 3720  
Fragment?: false
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Protein
G3UZA2
Organism: Mus musculus/domesticus
Length: 97  
Fragment?: true
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Protein
Q9D4E0
Organism: Mus musculus/domesticus
Length: 285  
Fragment?: false
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Publication
36355624 | J:340700
First Author: Zhang Z
Year: 2023
Journal: Hum Reprod
Title: IQUB deficiency causes male infertility by affecting the activity of p-ERK1/2/RSPH3.
Volume: 38
Issue: 1
Pages: 168-179
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Protein
Q7TSG1
Organism: Mus musculus/domesticus
Length: 988  
Fragment?: false
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Publication
27626380 | J:236599
First Author: Dickinson ME
Year: 2016
Journal: Nature
Title: High-throughput discovery of novel developmental phenotypes.
Volume: 537
Issue: 7621
Pages: 508-514
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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
- | J:136110
     
First Author: Velocigene
Year: 2008
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals)
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Publication
- | J:157065
     
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)
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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
24194600 | J:228563
First Author: Koscielny G
Year: 2014
Journal: Nucleic Acids Res
Title: The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data.
Volume: 42
Issue: Database issue
Pages: D802-9
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Publication
- | J:78475
       
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
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Publication
15489334 | -
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
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Publication
- | J:57747
     
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
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Publication
19468303 | -
First Author: Church DM
Year: 2009
Journal: PLoS Biol
Title: Lineage-specific biology revealed by a finished genome assembly of the mouse.
Volume: 7
Issue: 5
Pages: e1000112
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