Recombinant Human CEP290 Protein, GST-Tagged

• Cat.No.: CEP290-1134H
• Product Overview: Human Cep290 full-length ORF (AAH08641.1, 1 a.a. - 164 a.a.) recombinant protein with GST-tag at N-terminal.

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. [provided by RefSeq, Jul 2008]
• Source: Wheat Germ
• Species: Human
• Tag: GST
• Molecular Mass: 45.6 kDa
• AA Sequence: MAIFKIAALQKVVDNSVSLSELELA NKQYNELTAKYRDILQKDNMLVQRT SNLEHLECENISLKEQVESINKELE ITKEKLHTIEQAWEQETKLGNESSM DKAKKSITNSDIVSISKKITMLEMK ELNERQRAEHCQKMYEHLRTSLKQM EERNFELETKFAEV
• Applications: Enzyme-linked Immunoabsorbent Assay
  Western Blot (Recombinant protein)
  Antibody Production
  Protein Array
• Storage: Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

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