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CEP290 centrosomal protein 290 [ Homo sapiens (human) ]

Gene ID: 80184, updated on 16-May-2020

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

Genomic context

See CEP290 in Genome Data Viewer
Location:
12q21.32
Exon count:
60
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 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 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
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
 

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)

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)

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.

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

    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

    Related
    ENST00000672414.1
  2. XR_001748869.1 RNA Sequence

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