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CEP290 centrosomal protein 290kDa [ Homo sapiens (human) ]

Gene ID: 80184, updated on 25-Apr-2015
Official Symbol
CEP290provided by HGNC
Official Full Name
centrosomal protein 290kDaprovided 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
See CEP290 in MapViewer
Location:
12q21.32
Exon count:
60
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 ribosomal protein S4X pseudogene 15 Neighboring gene chromosome 12 open reading frame 50 Neighboring gene chromosome 12 open reading frame 29 Neighboring gene uncharacterized LOC105369883 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?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ13615, FLJ21979, KIAA0373

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
establishment or maintenance of cell polarity IEA
Inferred from Electronic Annotation
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 
mitotic cell cycle TAS
Traceable Author Statement
more info
 
organelle organization 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 cAMP metabolic process IEA
Inferred from Electronic Annotation
more info
 
regulation of establishment of protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
TCTN-B9D complex ISS
Inferred from Sequence or Structural Similarity
more info
 
centriolar satellite IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
 
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
 
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
PubMed 
Preferred Names
centrosomal protein of 290 kDa
Names
centrosomal protein of 290 kDa
Bardet-Biedl syndrome 14 protein
CTCL tumor antigen se2-2
Meckel syndrome, type 4
POC3 centriolar protein homolog
cancer/testis antigen 87
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 ATPases [Cell division and chromosome partitioning]
    TIGR02168
    Location:10821889
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011538763.1XP_011537065.1  

    Conserved Domains (2) summary
    COG1196
    Location:16402396
    Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
    TIGR02168
    Location:10821889
    Chromosome_partition_protein_Smc; chromosome segregation protein SMC, common bacterial type
  2. XM_011538762.1XP_011537064.1  

    Conserved Domains (2) summary
    COG1196
    Location:16712427
    Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
    TIGR02168
    Location:11131920
    Chromosome_partition_protein_Smc; chromosome segregation protein SMC, common bacterial type
  3. XM_011538759.1XP_011537061.1  

    Conserved Domains (3) summary
    COG1196
    Location:19272680
    Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
    cl19219
    Location:20672151
    DUF342; Protein of unknown function (DUF342)
    TIGR02168
    Location:13692176
    Chromosome_partition_protein_Smc; chromosome segregation protein SMC, common bacterial type
  4. XM_011538758.1XP_011537060.1  

    Conserved Domains (3) summary
    COG1196
    Location:19272682
    Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
    cl19219
    Location:20672151
    DUF342; Protein of unknown function (DUF342)
    TIGR02168
    Location:13692176
    Chromosome_partition_protein_Smc; chromosome segregation protein SMC, common bacterial type
  5. XM_011538761.1XP_011537063.1  

    Conserved Domains (3) summary
    COG1196
    Location:19272687
    Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
    cl19219
    Location:20672151
    DUF342; Protein of unknown function (DUF342)
    TIGR02168
    Location:13692176
    Chromosome_partition_protein_Smc; chromosome segregation protein SMC, common bacterial type
  6. XM_011538760.1XP_011537062.1  

    Conserved Domains (3) summary
    COG1196
    Location:19272643
    Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
    cl19219
    Location:20672151
    DUF342; Protein of unknown function (DUF342)
    TIGR02168
    Location:13692176
    Chromosome_partition_protein_Smc; chromosome segregation protein SMC, common bacterial type
  7. XM_011538756.1XP_011537058.1  

    See identical proteins and their annotated locations for XP_011537058.1

    Conserved Domains (3) summary
    COG1196
    Location:19272683
    Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
    cl19219
    Location:20672151
    DUF342; Protein of unknown function (DUF342)
    TIGR02168
    Location:13692176
    Chromosome_partition_protein_Smc; chromosome segregation protein SMC, common bacterial type
  8. XM_011538757.1XP_011537059.1  

    See identical proteins and their annotated locations for XP_011537059.1

    Conserved Domains (3) summary
    COG1196
    Location:19272683
    Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
    cl19219
    Location:20672151
    DUF342; Protein of unknown function (DUF342)
    TIGR02168
    Location:13692176
    Chromosome_partition_protein_Smc; chromosome segregation protein SMC, common bacterial type
  9. XM_011538766.1XP_011537068.1  

    Conserved Domains (3) summary
    COG1196
    Location:14142170
    Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
    cl19219
    Location:15541638
    DUF342; Protein of unknown function (DUF342)
    TIGR02168
    Location:8561663
    Chromosome_partition_protein_Smc; chromosome segregation protein SMC, common bacterial type
  10. XM_011538765.1XP_011537067.1  

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

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

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

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