AIPL1 (NM_014336) Human Mass Spec Standard

SKU PH304079

AIPL1 MS Standard C13 and N15-labeled recombinant protein (NP_055151)

Product Data

• Tag: C-Myc/DDK
• Species: Human
• Expression Host: HEK293
• Expression cDNA Clone or AA Sequence: [RC204079]
• Predicted MW: 43.9 kDa
• Protein Sequence:
  Protein Sequence

  >RC204079 protein sequence; Red=Cloning site Green=Tags(s); ; MDAALLLNVEGVKKTILHGGTGELPNFITGSRVIFHFRTMKCDEERTVIDDSRQVGQPMHIIIGNMFKLE; VWEILLTSMRVHEVAEFWCDTIHTGVYPILSRSLRQMAQGKDPTEWHVHTCGLANMFAYHTLGYEDLDEL; QKEPQPLVFVIELLQVDAPSDYQRETWNLSNHEKMKAVPVLHGEGNRLFKLGRYEEASSKYQEAIICLRN; LQTKEKPWEVQWLKLEKMINTLILNYCQCLLKKEEYYEVLEHTSDILRHHPGIVKAYYVRARAHAEVWNE; AEAKADLQKVLELEPSMQKAVRRELRLLENRMAEKQEEERLRCRNMLSQGATQPPAEPPTEPPAQSSTEP; PAEPPTAPSAELSAGPPAEPATEPPPSPGHSLQH; ; TRTRPLEQKLISEEDLAANDILDYKDDDDKV
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Concentration: >0.05 µg/µL as determined by microplate BCA method
• Labeling Method: Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine
• Buffer: 25 mM Tris-HCl, 100 mM glycine, pH 7.3
• Storage: Store at -80°C. Avoid repeated freeze-thaw cycles.
• Stability: Stable for 3 months from receipt of products under proper storage and handling conditions.
• Shipping: Dry Ice

Reference Data

• RefSeq: NP_055151
• RefSeq Size: 2990
• RefSeq ORF: 1152
• Synonyms: AIPL2; LCA4
• Locus ID: 23746
• UniProt ID: Q9NZN9
• Cytogenetics: 17p13.2
• Summary: Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
• Protein Families: Druggable Genome