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    CEP290 centrosomal protein 290 [ Homo sapiens (human) ]

    Gene ID: 80184, updated on 19-Jul-2021

    Summary

    Official Symbol
    CEP290provided by HGNC
    Official Full Name
    centrosomal protein 290provided by HGNC
    Primary source
    HGNC:HGNC:29021
    See related
    Ensembl:ENSG00000198707 MIM:610142
    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
    NEW
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    Genomic context

    See CEP290 in Genome Data Viewer
    Location:
    12q21.32
    Exon count:
    60
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (88049013..88142216, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (88442793..88535865, 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 O-mannosyltransferase targeting cadherins 3 Neighboring gene suppressyn-like

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ13615, FLJ21979, KIAA0373

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    NOT enables microtubule minus-end binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    PubMed 
    involved_in ciliary basal body-plasma membrane docking IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in ciliary transition zone assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cilium assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in eye photoreceptor cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in hindbrain development ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in kidney development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in non-motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in otic vesicle formation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of intracellular protein transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in pronephros development ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in protein transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within regulation of establishment of protein localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of MKS complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in centriolar satellite IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ciliary basal body IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in ciliary transition zone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in membrane HDA PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in photoreceptor connecting cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in specific granule lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    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

    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.

    Genomic

    1. NG_008417.2 RefSeqGene

      Range
      5129..98201
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_694

    mRNA and Protein(s)

    1. NM_025114.4NP_079390.3  centrosomal protein of 290 kDa

      See identical proteins and their annotated locations for NP_079390.3

      Status: REVIEWED

      Source sequence(s)
      AC091516, BC043398, DQ109808
      Consensus CDS
      CCDS55858.1
      UniProtKB/Swiss-Prot
      O15078
      UniProtKB/TrEMBL
      Q05BJ6
      Related
      ENSP00000448012.1, ENST00000552810.6
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 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

      Related
      ENSP00000308021.8, ENST00000309041.12
      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

      Related
      ENSP00000502161.1, ENST00000675476.1
      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

      Related
      ENST00000672414.2
    2. XR_001748869.1 RNA Sequence

      Related
      ENST00000675794.1
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