Recombinant Human SPTLC1, His-tagged

• Cat.No.: SPTLC1-30887TH
• Product Overview: Recombinant fragment, corresponding to amino acids 221-473 of Human SPTLC1 with N terminal His tag; MWt 33 kDa ,

Specification

• Description: Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5-phosphate as a cofactor. The product of this gene is the long chain base subunit 1 of serine palmitoyltransferase. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified.
• Conjugation: HIS
• Source: E. coli
• Tissue specificity: Widely expressed. Not detected in small intestine.
• Form: Lyophilised:Reconstitute with 148 μl aqua dest.
• Storage buffer: Preservative: NoneConstituents: 0.5% Trehalose, 6M Urea, 100mM Sodium phosphate, 10mM Sodium chloride, pH 4.5
• Storage: Shipped at 4°C. Upon delivery aliquot and store at -80oC. Avoid freeze / thaw cycles.
• Sequences of amino acids: LKEQEIEDQKNPRKARVTRRFIVVEGLYMNTGTICPLPEL VKLKYKYKARIFLEESLSFGVLGEHGRGVTEHYGINID DIDLISANMENALASIGGFCCGRSFVIDHQRLSGQGYC FSASLPPLLAAAAIEALNIMEENPGIFAVLKEKCGQIH KALQGISGLKVVGESLSPAFHLQLEESTGSREQDVRLLQE IVDQCMNRSIALTQARYLEKEEKCLPPPSIRVVVTVEQ TEEELERAASTIKEVAQAVLL
• Sequence Similarities: Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.

Gene Information

• Gene Name: SPTLC1 serine palmitoyltransferase, long chain base subunit 1 [ Homo sapiens ]
• Official Symbol: SPTLC1
• Synonyms: SPTLC1; serine palmitoyltransferase, long chain base subunit 1; hereditary sensory neuropathy, type 1 , HSN1; serine palmitoyltransferase 1; hLCB1; HSAN1; LCB1; SPTI
• Gene ID: 10558
• mRNA Refseq: NM_178324
• Protein Refseq: NP_847894
• MIM: 605712
• Uniprot ID: O15269
• Chromosome Location: 9q22.31
• Pathway: Metabolic pathways, organism-specific biosystem; Metabolism of lipids and lipoproteins, organism-specific biosystem; Sphingolipid metabolism, organism-specific biosystem; Sphingolipid metabolism, organism-specific biosystem; Sphingolipid metabolism, conserved biosystem
• Function: protein binding; pyridoxal phosphate binding; serine C-palmitoyltransferase activity; transferase activity; transferase activity, transferring acyl groups