CEP290

GENE INFORMATION

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Gene name

CEP290 (HGNC Symbol)

Synonyms

3H11Ag, BBS14, CT87, FLJ13615, JBTS5, KIAA0373, LCA10, MKS4, NPHP6, POC3, rd16, SLSN6

Description

Centrosomal protein 290kDa (HGNC Symbol)

Entrez gene 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]

Chromosome

12

Cytoband

q21.32

Chromosome location (bp)

88442793 - 88535993

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000198707 (version 75.37)

Entrez gene

80184

UniProt

O15078 (UniProt - Evidence at protein level)

neXtProt

NX_O15078

Antibodypedia

CEP290 antibodies
 

PROTEIN VIEW

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CEP290-001
 
CEP290-003
 
CEP290-004
 
CEP290-005
 
CEP290-006
 
CEP290-007
 
CEP290-201
 
CEP290-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CEP290-001 ENSP00000448012
ENST00000552810
O15078
Show all »
Show » Show » 2479 290.4 No 0
CEP290-003 ENSP00000473863
ENST00000604024
S4R322
Show all »
Show » Show » 857 100.1 No 0
CEP290-004 ENSP00000448573
ENST00000547926
F8VS29
Show all »
Show » Show » 613 72.5 No 0
CEP290-005 ENSP00000446905
ENST00000547691
O15078
Show all »
Show » Show » 1539 180.1 No 0
CEP290-006 ENSP00000447623
ENST00000550962
F8W097
Show all »
Show » Show » 164 19.4 No 0
CEP290-007 ENSP00000447527
ENST00000552770
F8W0V9
Show all »
Show » Show » 107 12.8 No 0
CEP290-201 ENSP00000308021
ENST00000309041
J3KNF5
Show all »
Show » Show » 2481 290.5 No 0
CEP290-202 ENSP00000380938
ENST00000397838
O15078
Show all »
Show » Show » 1539 180.1 No 0