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

Gene ID: 311573, updated on 13-Apr-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
Ensembl: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 C-terminus binding activity; protein domain specific binding activity; and protein kinase 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 colocalize with centriole. Orthologous to human CEP250 (centrosomal protein 250). [provided by Alliance of Genome Resources, Apr 2022]
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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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. Functional characterization of CEP250 variant identified in nonsyndromic retinitis pigmentosa. Huang XF, et al. Hum Mutat, 2019 Aug. PMID 30998843
  3. 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
  4. 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
  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

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

Gene LinkOut

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