QuickView for CEP290 (gene)

Gene Symbol:

CEP290 Homo sapiens

Full name:

centrosomal protein 290

Synonyms:

3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16, 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, centrosomal protein 290kDa, monoclonal antibody 3H11 antigen, nephrocytsin-6, prostate cancer antigen T21, tumor antigen se2-2

Genomic Location:

Chr 12: 86966921-87060124

Description:

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-myristo...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Bos taurus ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GGAMTNNNNNTCCY_UNKNOWN ,  TCCCRNNRTGC_UNKNOWN ,  CART1_01 ,  AACTTT_UNKNOWN

Cytogenetic Map:

12q21.32

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