Recombinant Human CEP290, His-tagged

• Cat.No.: CEP290-11112H
• Product Overview: Recombinant Human CEP290 protein, fused to His-tag, was expressed in E.coli and purified by Ni-sepharose.

Specification

• 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-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.
• Source: E.coli
• Species: Human
• Tag: His
• Protein length: 869-1103a.a.
• Storage: The protein is stored in PBS buffer at -20℃. Avoid repeated freezing and thawing cycles.
• Storage Buffer: 1M PBS (58mM Na2HPO4,17mM NaH2PO4, 68mM NaCl, pH8. ) added with 300mM Imidazole and 0.7% Sarcosyl, 15%glycerol.

Gene Information

• Gene Name: CEP290 centrosomal protein 290kDa [ Homo sapiens ]
• Official Symbol: CEP290
• Synonyms: CEP290; centrosomal protein 290kDa; centrosomal protein of 290 kDa; 3H11Ag; BBS14; cancer/testis antigen 87; CT87; FLJ13615; JBTS5; Joubert syndrome 5; KIAA0373; LCA10; Meckel syndrome; type 4; MKS4; nephrocystin 6; NPHP6; POC3; POC3 centriolar protein homolog (Chlamydomonas); rd16; SLSN6; nephrocytsin-6; tumor antigen se2-2; Meckel syndrome, type 4; CTCL tumor antigen se2-2; prostate cancer antigen T21; POC3 centriolar protein homolog; Bardet-Biedl syndrome 14 protein; monoclonal 3H11 antigen; FLJ21979
• Gene ID: 80184
• mRNA Refseq: NM_025114
• Protein Refseq: NP_079390
• MIM: 610142
• UniProt ID: O15078
• Chromosome Location: 12q21.33
• Pathway: Cell Cycle, organism-specific biosystem; Cell Cycle, Mitotic, organism-specific biosystem; Centrosome maturation, organism-specific biosystem; G2/M Transition, organism-specific biosystem; Loss of Nlp from mitotic centrosomes, organism-specific biosystem; Loss of proteins required for interphase microtubule organization??from the centrosome, organism-specific biosystem; Mitotic G2-G2/M phases, organism-specific biosystem
• Function: NOT microtubule minus-end binding; protein binding