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    CEP290 centrosomal protein 290 [ Homo sapiens (human) ]

    Gene ID: 80184, updated on 25-Aug-2016
    Official Symbol
    CEP290provided by HGNC
    Official Full Name
    centrosomal protein 290provided by HGNC
    Primary source
    HGNC:HGNC:29021
    See related
    Ensembl:ENSG00000198707 HPRD:08585; HPRD:10856; MIM:610142; Vega:OTTHUMG00000169871
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CT87; MKS4; POC3; rd16; BBS14; JBTS5; LCA10; NPHP6; SLSN6; 3H11Ag
    Summary
    This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    12q21.32
    Exon count:
    60
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (88049013..88142216, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (88442790..88535993, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene chromosome 12 open reading frame 50 Neighboring gene uncharacterized LOC107984542 Neighboring gene chromosome 12 open reading frame 29 Neighboring gene transmembrane protein 38A pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 364 Neighboring gene transmembrane and tetratricopeptide repeat containing 3 Neighboring gene suppressyn-like

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • AURKA Activation by TPX2, organism-specific biosystem (from REACTOME)
      AURKA Activation by TPX2, organism-specific biosystemTPX2 binds to aurora kinase A (AURKA) at centrosomes and promotes its activation by facilitating AURKA active conformation and autophosphorylation of the AURKA threonine residue T288 (Bayliss et al. ...
    • Anchoring of the basal body to the plasma membrane, organism-specific biosystem (from REACTOME)
      Anchoring of the basal body to the plasma membrane, organism-specific biosystemThe primary cilium is a microtubule-based organelle that is present on differentiated cells of nearly all eukaryotes. Cilium biogenesis is initiated by the docking of basal bodies, a centriole-derive...
    • Assembly of the primary cilium, organism-specific biosystem (from REACTOME)
      Assembly of the primary cilium, organism-specific biosystemThe primary cilium is one of two main types of cilia present on the surface of many eukaryotic cells (reviewed in Flieghauf et al, 2007). Unlike the motile cilia, which are generally present in large...
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
      Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
    • Centrosome maturation, organism-specific biosystem (from REACTOME)
      Centrosome maturation, organism-specific biosystemThe centrosome is the primary microtubule organizing center (MTOC) in vertebrate cells and plays an important role in orchestrating the formation of the mitotic spindle. Centrosome maturation is an ...
    • G2/M Transition, organism-specific biosystem (from REACTOME)
      G2/M Transition, organism-specific biosystemCyclin A can also form complexes with Cdc2 (Cdk1). Together with three B-type cyclins, Cdc2 (Cdk1) regulates the transition from G2 into mitosis. These complexes are activated by dephosphorylation of...
    • Loss of Nlp from mitotic centrosomes, organism-specific biosystem (from REACTOME)
      Loss of Nlp from mitotic centrosomes, organism-specific biosystemDuring interphase, Nlp interacts with gamma-tubulin ring complexes (gamma-TuRC), and is thought to contribute to the organization of interphase microtubules (Casenghi et al.,2003). Plk1 is activated...
    • Loss of proteins required for interphase microtubule organizationfrom the centrosome, organism-specific biosystem (from REACTOME)
      Loss of proteins required for interphase microtubule organizationfrom the centrosome, organism-specific biosystemIn addition to recruiting proteins and complexes necessary for increased microtubule nucleation, centrosomal maturation involves the loss of proteins involved in interphase microtubule organization ...
    • Mitotic G2-G2/M phases, organism-specific biosystem (from REACTOME)
      Mitotic G2-G2/M phases, organism-specific biosystem
      Mitotic G2-G2/M phases
    • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
      Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
    • Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystem (from REACTOME)
      Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystemThe mitotic spindle becomes established once centrosomes have migrated to opposite poles and the nuclear envelope has broken down. During this stage, interphase centrosomes mature into mitotic centro...
    • Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystem (from REACTOME)
      Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystemThe kinase activity of PLK1 is required for cell cycle progression as PLK1 phosphorylates and regulates a number of cellular proteins during mitosis. Centrosomic AURKA (Aurora A kinase), catalyticall...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ13615, FLJ21979, KIAA0373

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    NOT microtubule minus-end binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    G2/M transition of mitotic cell cycle TAS
    Traceable Author Statement
    more info
     
    cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cilium morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cilium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    eye photoreceptor cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    hindbrain development ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    otic vesicle formation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    positive regulation of intracellular protein transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pronephros development ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    protein transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of establishment of protein localization IMP
    Inferred from Mutant Phenotype
    more info
     
    Component Evidence Code Pubs
    MKS complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    centriolar satellite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    centriole IEA
    Inferred from Electronic Annotation
    more info
     
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ciliary transition zone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    colocalizes_with gamma-tubulin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    photoreceptor connecting cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    protein complex IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    centrosomal protein of 290 kDa
    Names
    Bardet-Biedl syndrome 14 protein
    CTCL tumor antigen se2-2
    Meckel syndrome, type 4
    POC3 centriolar protein homolog
    cancer/testis antigen 87
    centrosomal protein 290kDa
    monoclonal antibody 3H11 antigen
    nephrocytsin-6
    prostate cancer antigen T21
    tumor antigen se2-2

    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.

    Genomic

    1. NG_008417.1 RefSeqGene

      Range
      5001..98204
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_025114.3NP_079390.3  centrosomal protein of 290 kDa

      See identical proteins and their annotated locations for NP_079390.3

      Status: REVIEWED

      Source sequence(s)
      BC043398, BU676074, DQ109808
      Consensus CDS
      CCDS55858.1
      UniProtKB/Swiss-Prot
      O15078
      UniProtKB/TrEMBL
      Q05BJ6
      Related
      ENSP00000448012, OTTHUMP00000242341, ENST00000552810, OTTHUMT00000406344
      Conserved Domains (2) summary
      COG1196
      Location:16402393
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:10821889
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      88049013..88142216 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019983.1XP_016875472.1  

    2. XM_011538763.2XP_011537065.1  

      Conserved Domains (2) summary
      COG1196
      Location:16402396
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:10821889
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    3. XM_011538762.2XP_011537064.1  

      Conserved Domains (2) summary
      COG1196
      Location:16712427
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:11131920
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    4. XM_011538759.2XP_011537061.1  

      Conserved Domains (3) summary
      COG1196
      Location:19272680
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cl19219
      Location:20672151
      DUF342; Protein of unknown function (DUF342)
      TIGR02168
      Location:13692176
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    5. XM_011538758.2XP_011537060.1  

      Conserved Domains (3) summary
      COG1196
      Location:19272682
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cl19219
      Location:20672151
      DUF342; Protein of unknown function (DUF342)
      TIGR02168
      Location:13692176
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    6. XM_011538756.2XP_011537058.1  

      See identical proteins and their annotated locations for XP_011537058.1

      Conserved Domains (3) summary
      COG1196
      Location:19272683
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cl19219
      Location:20672151
      DUF342; Protein of unknown function (DUF342)
      TIGR02168
      Location:13692176
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    7. XM_011538757.2XP_011537059.1  

      See identical proteins and their annotated locations for XP_011537059.1

      Conserved Domains (3) summary
      COG1196
      Location:19272683
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cl19219
      Location:20672151
      DUF342; Protein of unknown function (DUF342)
      TIGR02168
      Location:13692176
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    8. XM_011538766.2XP_011537068.1  

      Conserved Domains (3) summary
      COG1196
      Location:14142170
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cl19219
      Location:15541638
      DUF342; Protein of unknown function (DUF342)
      TIGR02168
      Location:8561663
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    9. XM_017019981.1XP_016875470.1  

    10. XM_017019980.1XP_016875469.1  

    11. XM_011538761.1XP_011537063.1  

      Conserved Domains (3) summary
      COG1196
      Location:19272687
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cl19219
      Location:20672151
      DUF342; Protein of unknown function (DUF342)
      TIGR02168
      Location:13692176
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    12. XM_011538760.1XP_011537062.1  

      Conserved Domains (3) summary
      COG1196
      Location:19272643
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cl19219
      Location:20672151
      DUF342; Protein of unknown function (DUF342)
      TIGR02168
      Location:13692176
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    13. XM_017019982.1XP_016875471.1  

    14. XM_011538765.2XP_011537067.1  

      Conserved Domains (2) summary
      cl19219
      Location:20672151
      DUF342; Protein of unknown function (DUF342)
      TIGR02168
      Location:13692176
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    15. XM_011538764.2XP_011537066.1  

      Conserved Domains (2) summary
      cl19219
      Location:20672151
      DUF342; Protein of unknown function (DUF342)
      TIGR02168
      Location:13692176
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    RNA

    1. XR_001748870.1 RNA Sequence

    2. XR_001748869.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      88407817..88501072 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)