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    Cep250 centrosomal protein 250 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 311573, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Cep250provided by RGD
    Official Full Name
    centrosomal protein 250provided by RGD
    Primary source
    RGD:1562262
    See related
    EnsemblRapid:ENSRNOG00000019340 AllianceGenome:RGD:1562262
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    RGD1562262
    Summary
    Predicted to enable protein domain specific binding activity. Predicted to be involved in several processes, including centrosome cycle; detection of light stimulus involved in visual perception; and non-motile cilium assembly. Predicted to be located in microtubule organizing center; photoreceptor inner segment; and photoreceptor outer segment. Predicted to be part of protein-containing complex. Predicted to be active in centriole and centrosome. Orthologous to human CEP250 (centrosomal protein 250). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Thymus (RPKM 57.2), Kidney (RPKM 52.3) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Cep250 in Genome Data Viewer
    Location:
    3q42
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 3 NC_086021.1 (164931033..164976210)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 3 NC_051338.1 (144470946..144516125)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 3 NC_005102.4 (151508366..151544631)

    Chromosome 3 - NC_086021.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC134486190 Neighboring gene ubiquinol-cytochrome c reductase complex assembly factor 1 Neighboring gene growth differentiation factor 5 Neighboring gene similar to human chromosome 20 open reading frame 173 Neighboring gene ERGIC and golgi 3 Neighboring gene fer-1-like family member 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. The mechanism regulating the dissociation of the centrosomal protein C-Nap1 from mitotic spindle poles. Mayor T, et al. J Cell Sci, 2002 Aug 15. PMID 12140259
    2. Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing. de Castro-Miró M, et al. PLoS One, 2016. PMID 28005958, Free PMC Article
    3. C-Nap1, a novel centrosomal coiled-coil protein and candidate substrate of the cell cycle-regulated protein kinase Nek2. Fry AM, et al. J Cell Biol, 1998 Jun 29. PMID 9647649, Free PMC Article
    4. Functional characterization of CEP250 variant identified in nonsyndromic retinitis pigmentosa. Huang XF, et al. Hum Mutat, 2019 Aug. PMID 30998843
    5. A novel function of CEP135 as a platform protein of C-NAP1 for its centriolar localization. Kim K, et al. Exp Cell Res, 2008 Dec 10. PMID 18851962

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables protein domain specific binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in centriole-centriole cohesion ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in detection of light stimulus involved in visual perception ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitotic cell cycle ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in non-motile cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of protein localization to centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein localization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein localization to centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein localization to organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of centriole-centriole cohesion ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centriole ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ciliary basal body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in photoreceptor inner segment ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in photoreceptor outer segment ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in spindle pole centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    centrosome-associated protein CEP250
    Names
    centrosomal protein 250kDa

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001427194.1 → NP_001414123.1  centrosome-associated protein CEP250

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000003
      UniProtKB/TrEMBL
      F1M7J7
      Related
      ENSRNOP00000052126.5, ENSRNOT00000055251.7

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086021.1 Reference GRCr8

      Range
      164931033..164976210
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039106869.2 → XP_038962797.1  centrosome-associated protein CEP250 isoform X1

      UniProtKB/TrEMBL
      F1M7J7
      Conserved Domains (5) summary
      COG1196
      Location:454 → 1160
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      PRK11281
      Location:1904 → 2295
      PRK11281; mechanosensitive channel MscK
      TIGR02168
      Location:844 → 1544
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      TIGR02169
      Location:240 → 596
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam15035
      Location:39 → 214
      Rootletin; Ciliary rootlet component, centrosome cohesion

    2. XM_063283848.1 → XP_063139918.1  centrosome-associated protein CEP250 isoform X2

    3. XM_039106871.2 → XP_038962799.1  centrosome-associated protein CEP250 isoform X2

      Conserved Domains (5) summary
      COG1196
      Location:419 → 1125
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      PRK11281
      Location:1869 → 2260
      PRK11281; mechanosensitive channel MscK
      TIGR02168
      Location:809 → 1509
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      TIGR02169
      Location:205 → 561
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam15035
      Location:39 → 179
      Rootletin; Ciliary rootlet component, centrosome cohesion

    4. XM_063283849.1 → XP_063139919.1  centrosome-associated protein CEP250 isoform X2

    5. XM_039106870.2 → XP_038962798.1  centrosome-associated protein CEP250 isoform X1

      UniProtKB/TrEMBL
      F1M7J7
      Conserved Domains (5) summary
      COG1196
      Location:454 → 1160
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      PRK11281
      Location:1904 → 2295
      PRK11281; mechanosensitive channel MscK
      TIGR02168
      Location:844 → 1544
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      TIGR02169
      Location:240 → 596
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam15035
      Location:39 → 214
      Rootletin; Ciliary rootlet component, centrosome cohesion

    6. XM_039106872.2 → XP_038962800.1  centrosome-associated protein CEP250 isoform X3

      Conserved Domains (3) summary
      COG1196
      Location:55 → 445
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      PRK11281
      Location:905 → 1296
      PRK11281; mechanosensitive channel MscK
      TIGR02168
      Location:257 → 1060
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    RNA

    1. XR_005502972.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version

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