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    CEP290 centrosomal protein 290 [ Homo sapiens (human) ]

    Gene ID: 80184, updated on 14-Apr-2018
    Official Symbol
    CEP290provided by HGNC
    Official Full Name
    centrosomal protein 290provided by HGNC
    Primary source
    HGNC:HGNC:29021
    See related
    Ensembl:ENSG00000198707 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]
    Expression
    Ubiquitous expression in testis (RPKM 5.0), thyroid (RPKM 3.8) and 25 other tissues See more
    Orthologs
    Location:
    12q21.32
    Exon count:
    60
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 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

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Bardet-Biedl syndrome 14
    MedGen: C2673874 OMIM: 615991 GeneReviews: Bardet-Biedl Syndrome
    Compare labs
    Joubert syndrome 5
    MedGen: C1857780 OMIM: 610188 GeneReviews: Joubert Syndrome
    Compare labs
    Leber congenital amaurosis 10
    MedGen: C1857821 OMIM: 611755 GeneReviews: Leber Congenital Amaurosis
    Compare labs
    Meckel syndrome type 4
    MedGen: C1970161 OMIM: 611134 GeneReviews: Not available
    Compare labs
    Senior-Loken syndrome 6
    MedGen: C1857779 OMIM: 610189 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
    NHGRI GWA Catalog
    • 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 biosystemCilium biogenesis is initiated by the docking of basal bodies, a centriole-derived organelle, to the plasma membrane (reviewed in Reiter et al, 2012). The centriole consists of a multiprotein core su...
    • 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 ...
    • Cilium Assembly, organism-specific biosystem (from REACTOME)
      Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
    • 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...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • 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 organization from the centrosome, organism-specific biosystem (from REACTOME)
      Loss of proteins required for interphase microtubule organization from 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
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • 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
     
    ciliary basal body-plasma membrane docking TAS
    Traceable Author Statement
    more info
     
    cilium assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cilium assembly 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 
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    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 G2/M transition of mitotic cell cycle TAS
    Traceable Author Statement
    more info
     
    regulation of establishment of protein localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ciliary basal body IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    extracellular region TAS
    Traceable Author Statement
    more info
     
    colocalizes_with gamma-tubulin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane HDA PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    photoreceptor connecting cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    specific granule lumen TAS
    Traceable Author Statement
    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
      ENSP00000448012.1, OTTHUMP00000242341, ENST00000552810.5, OTTHUMT00000406344
      Conserved Domains (4) 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
      pfam16574
      Location:12891416
      CEP209_CC5; Coiled-coil region of centrosome protein CE290
      cl19219
      Location:17801864
      DUF342; Protein of unknown function (DUF342)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_017019983.2XP_016875472.1  centrosomal protein of 290 kDa isoform X11

    2. XM_011538763.3XP_011537065.1  centrosomal protein of 290 kDa isoform X10

      Conserved Domains (4) 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
      pfam16574
      Location:12891416
      CEP209_CC5; Coiled-coil region of centrosome protein CE290
      cl19219
      Location:17801864
      DUF342; Protein of unknown function (DUF342)
    3. XM_011538762.3XP_011537064.1  centrosomal protein of 290 kDa isoform X9

      Conserved Domains (4) 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
      pfam16574
      Location:13201447
      CEP209_CC5; Coiled-coil region of centrosome protein CE290
      cl19219
      Location:18111895
      DUF342; Protein of unknown function (DUF342)
    4. XM_017019981.2XP_016875470.1  centrosomal protein of 290 kDa isoform X7

    5. XM_017019980.2XP_016875469.1  centrosomal protein of 290 kDa isoform X5

    6. XM_011538758.3XP_011537060.1  centrosomal protein of 290 kDa isoform X2

      Conserved Domains (4) summary
      COG1196
      Location:19272682
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:13692176
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam16574
      Location:15761703
      CEP209_CC5; Coiled-coil region of centrosome protein CE290
      cl19219
      Location:20672151
      DUF342; Protein of unknown function (DUF342)
    7. XM_011538761.2XP_011537063.1  centrosomal protein of 290 kDa isoform X6

      Conserved Domains (4) summary
      COG1196
      Location:19272687
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:13692176
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam16574
      Location:15761703
      CEP209_CC5; Coiled-coil region of centrosome protein CE290
      cl19219
      Location:20672151
      DUF342; Protein of unknown function (DUF342)
    8. XM_011538760.2XP_011537062.1  centrosomal protein of 290 kDa isoform X4

      Conserved Domains (4) summary
      COG1196
      Location:19272643
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:13692176
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam16574
      Location:15761703
      CEP209_CC5; Coiled-coil region of centrosome protein CE290
      cl19219
      Location:20672151
      DUF342; Protein of unknown function (DUF342)
    9. XM_011538756.3XP_011537058.1  centrosomal protein of 290 kDa isoform X1

      See identical proteins and their annotated locations for XP_011537058.1

      Conserved Domains (4) summary
      COG1196
      Location:19272683
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:13692176
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam16574
      Location:15761703
      CEP209_CC5; Coiled-coil region of centrosome protein CE290
      cl19219
      Location:20672151
      DUF342; Protein of unknown function (DUF342)
    10. XM_011538757.3XP_011537059.1  centrosomal protein of 290 kDa isoform X1

      See identical proteins and their annotated locations for XP_011537059.1

      Conserved Domains (4) summary
      COG1196
      Location:19272683
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:13692176
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam16574
      Location:15761703
      CEP209_CC5; Coiled-coil region of centrosome protein CE290
      cl19219
      Location:20672151
      DUF342; Protein of unknown function (DUF342)
    11. XM_011538766.3XP_011537068.1  centrosomal protein of 290 kDa isoform X14

      Conserved Domains (4) summary
      COG1196
      Location:14142170
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:8561663
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam16574
      Location:10631190
      CEP209_CC5; Coiled-coil region of centrosome protein CE290
      cl19219
      Location:15541638
      DUF342; Protein of unknown function (DUF342)
    12. XM_011538759.2XP_011537061.1  centrosomal protein of 290 kDa isoform X3

      Conserved Domains (4) summary
      COG1196
      Location:19272680
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:13692176
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam16574
      Location:15761703
      CEP209_CC5; Coiled-coil region of centrosome protein CE290
      cl19219
      Location:20672151
      DUF342; Protein of unknown function (DUF342)
    13. XM_017019982.1XP_016875471.1  centrosomal protein of 290 kDa isoform X8

    14. XM_011538765.3XP_011537067.1  centrosomal protein of 290 kDa isoform X13

      Conserved Domains (3) summary
      TIGR02168
      Location:13692176
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam16574
      Location:15761703
      CEP209_CC5; Coiled-coil region of centrosome protein CE290
      cl19219
      Location:20672151
      DUF342; Protein of unknown function (DUF342)
    15. XM_011538764.3XP_011537066.1  centrosomal protein of 290 kDa isoform X12

      Conserved Domains (3) summary
      TIGR02168
      Location:13692176
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam16574
      Location:15761703
      CEP209_CC5; Coiled-coil region of centrosome protein CE290
      cl19219
      Location:20672151
      DUF342; Protein of unknown function (DUF342)

    RNA

    1. XR_001748870.2 RNA Sequence

    2. XR_001748869.1 RNA Sequence

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