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    Cep290 centrosomal protein 290 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 314787, updated on 9-Dec-2024

    Summary

    Official Symbol
    Cep290provided by RGD
    Official Full Name
    centrosomal protein 290provided by RGD
    Primary source
    RGD:1311640
    See related
    EnsemblRapid:ENSRNOG00000056458 AllianceGenome:RGD:1311640
    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
    RGD1311640
    Summary
    Predicted to enable identical protein binding activity. Predicted to be involved in several processes, including cilium assembly; positive regulation of DNA-templated transcription; and positive regulation of intracellular protein transport. Predicted to act upstream of or within several processes, including determination of left/right symmetry; photoreceptor cell maintenance; and retina development in camera-type eye. Located in ciliary basal body. Human ortholog(s) of this gene implicated in several diseases, including Bardet-Biedl syndrome 14; Joubert syndrome 5; Leber congenital amaurosis 10; Meckel syndrome 4; and Senior-Loken syndrome. Orthologous to human CEP290 (centrosomal protein 290). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Testes (RPKM 103.0), Brain (RPKM 53.6) and 9 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Cep290 in Genome Data Viewer
    Location:
    7q21
    Exon count:
    59
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 7 NC_086025.1 (37196765..37285955)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 7 NC_051342.1 (35310071..35399388)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 7 NC_005106.4 (40217269..40306327)

    Chromosome 7 - NC_086025.1Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORA48 Neighboring gene transmembrane O-mannosyltransferase targeting cadherins 3 Neighboring gene transfer RNA proline (anticodon GGG) 7 Neighboring gene uncharacterized LOC134479675 Neighboring gene similar to human chromosome 12 open reading frame 50 Neighboring gene RNA 5'-phosphate and 3'-OH ligase 1 Neighboring gene ribosomal protein S13, pseudogene 9

    Genomic regions, transcripts, and products

    Expression

    • 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

    General gene information

    Markers

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    NOT enables microtubule minus-end binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables molecular_function ND
    No biological Data available
    more info
     
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
     
    involved_in camera-type eye development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ciliary basal body-plasma membrane docking IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within ciliary basal body-plasma membrane docking ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in ciliary transition zone assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within ciliary transition zone assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cilium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within determination of left/right symmetry ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within establishment or maintenance of cell polarity ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within heart development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in kidney development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within kidney development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in microtubule cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in non-motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within non-motile cilium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within photoreceptor cell maintenance ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of intracellular protein transport ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within protein localization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein transport ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of establishment of protein localization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within response to endoplasmic reticulum stress ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within retina development in camera-type eye ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    part_of MKS complex ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in centriolar satellite IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in centriolar satellite ISO
    Inferred from Sequence Orthology
    more info
     
    located_in centriole ISO
    Inferred from Sequence Orthology
    more info
     
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in ciliary transition zone ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in photoreceptor connecting cilium ISO
    Inferred from Sequence Orthology
    more info
     
    located_in photoreceptor distal connecting cilium ISO
    Inferred from Sequence Orthology
    more info
     
    located_in photoreceptor outer segment ISO
    Inferred from Sequence Orthology
    more info
     
    located_in photoreceptor proximal connecting cilium ISO
    Inferred from Sequence Orthology
    more info
     
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in rod photoreceptor outer segment ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    centrosomal protein of 290 kDa
    Names
    centrosomal protein 290kDa

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001135755.2NP_001129227.1  centrosomal protein of 290 kDa isoform 2

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000007
      UniProtKB/TrEMBL
      A0A0G2K715, A0A8I5ZYJ8
      Related
      ENSRNOP00000074021.1, ENSRNOT00000082090.3
      Conserved Domains (3) summary
      COG1196
      Location:16412359
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:10831858
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam16574
      Location:12901417
      CEP209_CC5; Coiled-coil region of centrosome protein CE290
    2. NM_001401003.1NP_001387932.1  centrosomal protein of 290 kDa isoform 1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000007
      UniProtKB/TrEMBL
      A0A8I5ZYJ8

    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_086025.1 Reference GRCr8

      Range
      37196765..37285955
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039079085.2XP_038935013.1  centrosomal protein of 290 kDa isoform X1

      UniProtKB/TrEMBL
      A0A8I5ZYJ8
      Conserved Domains (4) summary
      COG1196
      Location:19182636
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      PRK05771
      Location:429557
      PRK05771; V-type ATP synthase subunit I; Validated
      TIGR02168
      Location:13602135
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam16574
      Location:15671694
      CEP209_CC5; Coiled-coil region of centrosome protein CE290
    2. XM_039079087.2XP_038935015.1  centrosomal protein of 290 kDa isoform X4

      UniProtKB/TrEMBL
      A0A8I5ZYJ8
      Conserved Domains (4) summary
      COG1196
      Location:19182638
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      PRK05771
      Location:429557
      PRK05771; V-type ATP synthase subunit I; Validated
      TIGR02168
      Location:13602135
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam16574
      Location:15671694
      CEP209_CC5; Coiled-coil region of centrosome protein CE290
    3. XM_039079086.2XP_038935014.1  centrosomal protein of 290 kDa isoform X3

      UniProtKB/TrEMBL
      A0A8I5ZYJ8
      Conserved Domains (4) summary
      COG1196
      Location:19002638
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      PRK05771
      Location:429557
      PRK05771; V-type ATP synthase subunit I; Validated
      TIGR02168
      Location:13602135
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam16574
      Location:15671694
      CEP209_CC5; Coiled-coil region of centrosome protein CE290
    4. XM_017594843.3XP_017450332.1  centrosomal protein of 290 kDa isoform X2

      UniProtKB/TrEMBL
      A0A0G2K929, A0A8I5ZYJ8
      Related
      ENSRNOP00000074837.1, ENSRNOT00000085684.3
    5. XM_063263467.1XP_063119537.1  centrosomal protein of 290 kDa isoform X5

      UniProtKB/TrEMBL
      A0A8I5ZYJ8
    6. XM_039079090.2XP_038935018.1  centrosomal protein of 290 kDa isoform X8

      UniProtKB/TrEMBL
      A0A8I5ZYJ8
      Related
      ENSRNOP00000083059.1, ENSRNOT00000101678.2
      Conserved Domains (3) summary
      COG1196
      Location:16652383
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:11071882
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam16574
      Location:13141441
      CEP209_CC5; Coiled-coil region of centrosome protein CE290
    7. XM_039079091.2XP_038935019.1  centrosomal protein of 290 kDa isoform X9

      UniProtKB/TrEMBL
      A0A8I5ZYJ8
      Conserved Domains (3) summary
      COG1196
      Location:16342352
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:10761851
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam16574
      Location:12831410
      CEP209_CC5; Coiled-coil region of centrosome protein CE290
    8. XM_039079092.2XP_038935020.1  centrosomal protein of 290 kDa isoform X10

      UniProtKB/TrEMBL
      A0A8I5ZYJ8
      Conserved Domains (3) summary
      COG1196
      Location:16342352
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:10761851
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam16574
      Location:12831410
      CEP209_CC5; Coiled-coil region of centrosome protein CE290
    9. XM_063263468.1XP_063119538.1  centrosomal protein of 290 kDa isoform X6

      UniProtKB/TrEMBL
      A0A8I5ZYJ8
    10. XM_039079088.2XP_038935016.1  centrosomal protein of 290 kDa isoform X6

      UniProtKB/TrEMBL
      A0A8I5ZYJ8
      Conserved Domains (4) summary
      COG1196
      Location:19182636
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      PRK05771
      Location:429557
      PRK05771; V-type ATP synthase subunit I; Validated
      TIGR02168
      Location:13602135
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam16574
      Location:15671694
      CEP209_CC5; Coiled-coil region of centrosome protein CE290
    11. XM_039079089.2XP_038935017.1  centrosomal protein of 290 kDa isoform X7

      UniProtKB/TrEMBL
      A0A8I5ZYJ8
      Related
      ENSRNOP00000106392.1, ENSRNOT00000132492.1
      Conserved Domains (4) summary
      COG1196
      Location:19182636
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      PRK05771
      Location:429557
      PRK05771; V-type ATP synthase subunit I; Validated
      TIGR02168
      Location:13602135
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam16574
      Location:15671694
      CEP209_CC5; Coiled-coil region of centrosome protein CE290
    12. XM_039079094.2XP_038935022.1  centrosomal protein of 290 kDa isoform X11

      Conserved Domains (3) summary
      COG1196
      Location:7001418
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:142917
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam16574
      Location:349476
      CEP209_CC5; Coiled-coil region of centrosome protein CE290

    RNA

    1. XR_005486624.2 RNA Sequence

    2. XR_005486625.2 RNA Sequence