Rabbit anti-Human, Mouse SPTLC1 Polyclonal Antibody | anti-SPTLC1 antibody

SPTLC1, NT (Serine Palmitoyltransferase 1, Long Chain Base Biosynthesis Protein 1, LCB 1, Serine-palmitoyl-CoA Transferase 1, SPT 1, SPT1, LCB1) (PE)

Cat. Num. AAA6500402

• Gene Names: SPTLC1; HSN1; LBC1; LCB1; SPT1; SPTI; HSAN1
• Reactivity: Human, Mouse
• Applications: Western Blot
• Purity: Purified by Protein G Affinity Chromatography.
• Synonyms: SPTLC1; Polyclonal Antibody; NT (Serine Palmitoyltransferase 1; Long Chain Base Biosynthesis Protein 1; LCB 1; Serine-palmitoyl-CoA Transferase 1; SPT 1; SPT1; LCB1) (PE); anti-SPTLC1 antibody

• Host: Rabbit
• Reactivity: Human, Mouse
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Recognizes human SPTLC1. Species Crossreactivity: mouse.
• Purity/Purification: Purified by Protein G Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with R-Phycoerythrin (PE).

• Applicable Applications for anti-SPTLC1 antibody: Western Blot (WB), FLISA
• Application Notes: WB: 1:100-1:500; FLISA: 1:1,000; Applications are based on unconjugated antibody.
• Immunogen: Synthetic peptide selected from the N-terminal region of human SPTLC1 (KLH).
• Conjugate: PE
• Note: Preservative Free
• Special Handling: Light sensitive
• Preparation and Storage: Store product at 4 degree C in the dark. DO NOT FREEZE! Stable at 4 degree C for 12 months after receipt as an undiluted liquid. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Caution: PE conjugates are sensitive to light. For maximum recovery of product, centrifuge the original vial prior to removing the cap.

Western Blot (WB)

(Western blot analysis of hSPTLC1-S41 in 293, Hela, K562 cell line and mouse liver tissue lysates (35ug/lane). SPTLC1 (arrow) was detected using the purified Pab.)

Product Categories/Family for anti-SPTLC1 antibody

Antibodies; Enzymes

References

1. Stachowitz, S., et al., J. Invest. Dermatol. 119(5):1048-1052 (2002). 2. Nicholson, G.A., et al., Am. J. Hum. Genet. 69(3):655-659 (2001). 3. Dawkins, J.L., et al., Nat. Genet. 27(3):309-312 (2001). 4. Bejaoui, K., et al., Nat. Genet. 27(3):261-262 (2001). 5. Perry, D.K., et al., J. Biol. Chem. 275(12):9078-9084 (2000).

NCBI and Uniprot Product Information

• NCBI GI #: 6685579
• NCBI GeneID: 10558
• UniProt Accession #: O15269; Q5VWB4; Q96IX6; A8K681
• Molecular Weight: 473
• NCBI Official Full Name: Serine palmitoyltransferase 1
• NCBI Official Synonym Full Names: serine palmitoyltransferase, long chain base subunit 1
• NCBI Official Symbol: SPTLC1
• NCBI Official Synonym Symbols: HSN1; LBC1; LCB1; SPT1; SPTI; HSAN1
• NCBI Protein Information: serine palmitoyltransferase 1; LCB 1; SPT 1; serine C-palmitoyltransferase; serine-palmitoyl-CoA transferase 1; long chain base biosynthesis protein 1
• UniProt Protein Name: Serine palmitoyltransferase 1
• Protein Family: Serine palmitoyltransferase
• UniProt Gene Name: SPTLC1
• UniProt Synonym Gene Names: LCB1; LCB 1; SPT 1; SPT1
• UniProt Entry Name: SPTC1_HUMAN

NCBI Description

This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. Pseudogenes of this gene have been defined on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013]

Uniprot Description

SPTLC1: Serine palmitoyltransferase (SPT). The heterodimer formed with SPTLC2 or SPTLC3 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1- SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference. Defects in SPTLC1 are the cause of hereditary sensory and autonomic neuropathy type 1A (HSAN1A). The hereditary sensory and autonomic neuropathies are a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN1A is an autosomal dominant axonal neuropathy with onset in the second or third decades. Initial symptoms are loss of pain, touch, heat, and cold sensation over the feet, followed by distal muscle wasting and weakness. Loss of pain sensation leads to chronic skin ulcers and distal amputations. Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Lipid Metabolism - sphingolipid; EC 2.3.1.50; Transferase; Membrane protein, integral

Chromosomal Location of Human Ortholog: 9q22.2

Cellular Component: endoplasmic reticulum membrane; integral to membrane

Molecular Function: protein binding; serine C-palmitoyltransferase activity; pyridoxal phosphate binding

Biological Process: sphingolipid metabolic process; sphingolipid biosynthetic process; sphingosine biosynthetic process; ceramide biosynthetic process; sphinganine biosynthetic process; sphingomyelin biosynthetic process

Disease: Neuropathy, Hereditary Sensory And Autonomic, Type Ia