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CEP290 centrosomal protein 290 [ Homo sapiens (human) ]

Gene ID: 80184, updated on 3-Jun-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
See CEP290 in Genome Data Viewer
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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