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

Gene ID: 80184, updated on 19-Jul-2014
Official Symbol
CEP290provided by HGNC
Official Full Name
centrosomal protein 290kDaprovided by HGNC
Primary source
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]
See CEP290 in Epigenomics, MapViewer
Location:
12q21.32
Exon count:
58
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 transmembrane protein 38A pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 364 Neighboring gene transmembrane and tetratricopeptide repeat containing 3 Neighboring gene uncharacterized LOC101928541

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
 
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
 
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
 
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
 
centrosome 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
 
Preferred Names
centrosomal protein of 290 kDa
Names
centrosomal protein of 290 kDa
nephrocytsin-6
tumor antigen se2-2
Meckel syndrome, type 4
CTCL tumor antigen se2-2
cancer/testis antigen 87
prostate cancer antigen T21
POC3 centriolar protein homolog
Bardet-Biedl syndrome 14 protein
monoclonal antibody 3H11 antigen

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 

    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 proteins identical to 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
    Blast Score: 198
    Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
    TIGR02168
    Location:10821889
    Blast Score: 192
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

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

mRNA and Protein(s)

  1. XM_005269158.1XP_005269215.1  

    See proteins identical to XP_005269215.1

    Conserved Domains (2) summary
    COG1196
    Location:16712424
    Blast Score: 197
    Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
    TIGR02168
    Location:11131920
    Blast Score: 192
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  2. XM_006719609.1XP_006719672.1  

    See proteins identical to XP_006719672.1

    Conserved Domains (2) summary
    COG1196
    Location:16712424
    Blast Score: 197
    Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
    TIGR02168
    Location:11131920
    Blast Score: 192
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  3. XM_006719610.1XP_006719673.1  

    Conserved Domains (3) summary
    COG1196
    Location:11581911
    Blast Score: 197
    Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
    TIGR02168
    Location:6001407
    Blast Score: 192
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cl19219
    Location:12981382
    Blast Score: 93
    DUF342; Protein of unknown function (DUF342)
  4. XM_005269161.1XP_005269218.1  

    Conserved Domains (3) summary
    COG1196
    Location:11701923
    Blast Score: 201
    Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
    TIGR02168
    Location:6121419
    Blast Score: 194
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cl19219
    Location:13101394
    Blast Score: 93
    DUF342; Protein of unknown function (DUF342)
  5. XM_005269160.1XP_005269217.1  

    Conserved Domains (3) summary
    COG1196
    Location:16712351
    Blast Score: 188
    Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
    TIGR02168
    Location:11701920
    Blast Score: 190
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cl19219
    Location:18111895
    Blast Score: 93
    DUF342; Protein of unknown function (DUF342)

Alternate HuRef

Genomic

  1. AC_000144.1 

    Range
    85509678..85602945
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

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