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    Cep290 centrosomal protein 290 [ Mus musculus (house mouse) ]

    Gene ID: 216274, updated on 9-Dec-2024

    Summary

    Official Symbol
    Cep290provided by MGI
    Official Full Name
    centrosomal protein 290provided by MGI
    Primary source
    MGI:MGI:2384917
    See related
    Ensembl:ENSMUSG00000019971 AllianceGenome:MGI:2384917
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Nphp6; b2b1454Clo; b2b1752Clo
    Summary
    Predicted to enable identical protein binding activity. Involved in cilium assembly; microtubule cytoskeleton organization; and protein transport. Acts upstream of or within several processes, including cilium assembly; photoreceptor cell maintenance; and retina development in camera-type eye. Located in microtubule organizing center and photoreceptor cell cilium. Part of MKS complex. Is active in rod photoreceptor outer segment. Used to study Joubert syndrome 5; Leber congenital amaurosis 10; cystic kidney disease; and visceral heterotaxy. 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 CNS E11.5 (RPKM 1.5), testis adult (RPKM 1.4) and 14 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Cep290 in Genome Data Viewer
    Location:
    10 D1; 10 51.48 cM
    Exon count:
    56
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (100323410..100409527)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (100487548..100575671)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene THO complex 4 pseudogene Neighboring gene transmembrane and tetratricopeptide repeat containing 3 Neighboring gene STARR-seq mESC enhancer starr_27735 Neighboring gene RIKEN cDNA 1700017N19 gene Neighboring gene STARR-positive B cell enhancer mm9_chr10:100051814-100052115 Neighboring gene RNA 5'-phosphate and 3'-OH ligase 1 Neighboring gene STARR-positive B cell enhancer mm9_chr10:100092429-100092730 Neighboring gene STARR-seq mESC enhancer starr_27736 Neighboring gene predicted gene, 35722

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (2) 
    • Endonuclease-mediated (5) 
    • Gene trapped (1) 
    • Spontaneous (1)  1 citation
    • Targeted (5)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC7859

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    NOT enables microtubule minus-end binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ciliary transition zone assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within ciliary transition zone assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cilium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within determination of left/right symmetry IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within establishment or maintenance of cell polarity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in eye photoreceptor cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in hindbrain development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in kidney development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within kidney development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in microtubule cytoskeleton organization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in non-motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in otic vesicle formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within photoreceptor cell maintenance IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within photoreceptor cell maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of intracellular protein transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of intracellular protein transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in pronephros development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within protein localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of establishment of protein localization ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    acts_upstream_of_or_within response to endoplasmic reticulum stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within retina development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of MKS complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in centriolar satellite IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centriolar satellite ISO
    Inferred from Sequence Orthology
    more info
     
    located_in centriolar satellite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centriole ISO
    Inferred from Sequence Orthology
    more info
     
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in centrosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in ciliary basal body ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in ciliary transition zone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in photoreceptor connecting cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in photoreceptor distal connecting cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in photoreceptor proximal connecting cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    is_active_in rod photoreceptor outer segment IGI
    Inferred from Genetic Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    centrosomal protein of 290 kDa
    Names
    Bardet-Biedl syndrome 14 protein homolog
    nephrocystin-6

    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_001400997.1NP_001387926.1  centrosomal protein of 290 kDa isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC153501
    2. NM_146009.4NP_666121.2  centrosomal protein of 290 kDa isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC153501
      Consensus CDS
      CCDS48685.1
      UniProtKB/TrEMBL
      E9Q9M0
      Related
      ENSMUSP00000151388.2, ENSMUST00000220346.2
      Conserved Domains (4) summary
      COG1196
      Location:16412400
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:10831858
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam06273
      Location:85133
      eIF-4B; Plant specific eukaryotic initiation factor 4B
      pfam16574
      Location:12901417
      CEP209_CC5; Coiled-coil region of centrosome protein CE290

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000076.7 Reference GRCm39 C57BL/6J

      Range
      100323410..100409527
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006513526.4XP_006513589.1  centrosomal protein of 290 kDa isoform X1

      Conserved Domains (4) summary
      COG1196
      Location:19182677
      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_006513527.4XP_006513590.1  centrosomal protein of 290 kDa isoform X2

      Conserved Domains (4) summary
      COG1196
      Location:16652424
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:11071882
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      TIGR02169
      Location:8931280
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam16574
      Location:13141441
      CEP209_CC5; Coiled-coil region of centrosome protein CE290
    3. XM_006513528.4XP_006513591.1  centrosomal protein of 290 kDa isoform X3

      See identical proteins and their annotated locations for XP_006513591.1

      UniProtKB/Swiss-Prot
      Q6A078, Q8BIB8
      Related
      ENSMUSP00000151712.2, ENSMUST00000219765.2
      Conserved Domains (4) summary
      COG1196
      Location:16342393
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:10761851
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      TIGR02169
      Location:8621249
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam16574
      Location:12831410
      CEP209_CC5; Coiled-coil region of centrosome protein CE290