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

Gene ID: 314787, updated on 2-Nov-2024

Summary

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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, Nov 2024]
Expression
Biased expression in Testes (RPKM 103.0), Brain (RPKM 53.6) and 9 other tissues See more
Orthologs
human mouse all
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Genomic context

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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

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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 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. Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome. Helou J, et al. J Med Genet, 2007 Oct. PMID 17617513, Free PMC Article
  2. Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Perrault I, et al. Hum Mutat, 2007 Apr. PMID 17345604
  3. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. den Hollander AI, et al. Am J Hum Genet, 2006 Sep. PMID 16909394, Free PMC Article
  4. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Brancati F, et al. Am J Hum Genet, 2007 Jul. PMID 17564967, Free PMC Article
  5. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Baala L, et al. Am J Hum Genet, 2007 Jul. PMID 17564974, Free PMC Article

See all (41) 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 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

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

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_001135755.2 → NP_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:1641 → 2359
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:1083 → 1858
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam16574
    Location:1290 → 1417
    CEP209_CC5; Coiled-coil region of centrosome protein CE290

  2. NM_001401003.1 → NP_001387932.1  centrosomal protein of 290 kDa isoform 1

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000007

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_039079085.2 → XP_038935013.1  centrosomal protein of 290 kDa isoform X1

    UniProtKB/TrEMBL
    A0A8I5ZYJ8
    Conserved Domains (4) summary
    COG1196
    Location:1918 → 2636
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    PRK05771
    Location:429 → 557
    PRK05771; V-type ATP synthase subunit I; Validated
    TIGR02168
    Location:1360 → 2135
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam16574
    Location:1567 → 1694
    CEP209_CC5; Coiled-coil region of centrosome protein CE290

  2. XM_039079087.2 → XP_038935015.1  centrosomal protein of 290 kDa isoform X4

    UniProtKB/TrEMBL
    A0A8I5ZYJ8
    Conserved Domains (4) summary
    COG1196
    Location:1918 → 2638
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    PRK05771
    Location:429 → 557
    PRK05771; V-type ATP synthase subunit I; Validated
    TIGR02168
    Location:1360 → 2135
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam16574
    Location:1567 → 1694
    CEP209_CC5; Coiled-coil region of centrosome protein CE290

  3. XM_039079086.2 → XP_038935014.1  centrosomal protein of 290 kDa isoform X3

    UniProtKB/TrEMBL
    A0A8I5ZYJ8
    Conserved Domains (4) summary
    COG1196
    Location:1900 → 2638
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    PRK05771
    Location:429 → 557
    PRK05771; V-type ATP synthase subunit I; Validated
    TIGR02168
    Location:1360 → 2135
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam16574
    Location:1567 → 1694
    CEP209_CC5; Coiled-coil region of centrosome protein CE290

  4. XM_017594843.3 → XP_017450332.1  centrosomal protein of 290 kDa isoform X2

    UniProtKB/TrEMBL
    A0A0G2K929, A0A8I5ZYJ8
    Related
    ENSRNOP00000074837.1, ENSRNOT00000085684.3

  5. XM_063263467.1 → XP_063119537.1  centrosomal protein of 290 kDa isoform X5

  6. XM_039079090.2 → XP_038935018.1  centrosomal protein of 290 kDa isoform X8

    UniProtKB/TrEMBL
    A0A8I5ZYJ8
    Related
    ENSRNOP00000083059.1, ENSRNOT00000101678.2
    Conserved Domains (3) summary
    COG1196
    Location:1665 → 2383
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:1107 → 1882
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam16574
    Location:1314 → 1441
    CEP209_CC5; Coiled-coil region of centrosome protein CE290

  7. XM_039079091.2 → XP_038935019.1  centrosomal protein of 290 kDa isoform X9

    UniProtKB/TrEMBL
    A0A8I5ZYJ8
    Conserved Domains (3) summary
    COG1196
    Location:1634 → 2352
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:1076 → 1851
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam16574
    Location:1283 → 1410
    CEP209_CC5; Coiled-coil region of centrosome protein CE290

  8. XM_039079092.2 → XP_038935020.1  centrosomal protein of 290 kDa isoform X10

    UniProtKB/TrEMBL
    A0A8I5ZYJ8
    Conserved Domains (3) summary
    COG1196
    Location:1634 → 2352
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:1076 → 1851
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam16574
    Location:1283 → 1410
    CEP209_CC5; Coiled-coil region of centrosome protein CE290

  9. XM_063263468.1 → XP_063119538.1  centrosomal protein of 290 kDa isoform X6

  10. XM_039079088.2 → XP_038935016.1  centrosomal protein of 290 kDa isoform X6

    UniProtKB/TrEMBL
    A0A8I5ZYJ8
    Conserved Domains (4) summary
    COG1196
    Location:1918 → 2636
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    PRK05771
    Location:429 → 557
    PRK05771; V-type ATP synthase subunit I; Validated
    TIGR02168
    Location:1360 → 2135
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam16574
    Location:1567 → 1694
    CEP209_CC5; Coiled-coil region of centrosome protein CE290

  11. XM_039079089.2 → XP_038935017.1  centrosomal protein of 290 kDa isoform X7

    UniProtKB/TrEMBL
    A0A8I5ZYJ8
    Related
    ENSRNOP00000106392.1, ENSRNOT00000132492.1
    Conserved Domains (4) summary
    COG1196
    Location:1918 → 2636
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    PRK05771
    Location:429 → 557
    PRK05771; V-type ATP synthase subunit I; Validated
    TIGR02168
    Location:1360 → 2135
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam16574
    Location:1567 → 1694
    CEP209_CC5; Coiled-coil region of centrosome protein CE290

  12. XM_039079094.2 → XP_038935022.1  centrosomal protein of 290 kDa isoform X11

    Conserved Domains (3) summary
    COG1196
    Location:700 → 1418
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:142 → 917
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam16574
    Location:349 → 476
    CEP209_CC5; Coiled-coil region of centrosome protein CE290

RNA

  1. XR_005486624.2 RNA Sequence

  2. XR_005486625.2 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version

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