SPTLC1 Polyclonal Antibody | anti-SPTLC1 antibody

Anti-SPTLC1 Antibody

Cat. Num. AAA177916

• Gene Names: SPTLC1; HSN1; LBC1; LCB1; SPT1; SPTI; HSAN1
• Reactivity: Human, Mouse, Rat
• Applications: Western Blot, Immunohistochemistry
• Purity: Immunogen Affinity Purified
• Synonyms: SPTLC1; Polyclonal Antibody; Anti-SPTLC1 Antibody; Serine palmitoyltransferase 1; HSAN; HSAN1; HSN1; LBC1; LCB 1; LCB1; Long chain base biosynthesis protein 1; MGC14645; Serine C palmitoyltransferase; Serine palmitoyl CoA transferase 1; Serine palmitoyltransferase long chain base subunit 1; Serine palmitoyl transferase subunit 1; Serine-palmitoyl-CoA transferase 1; SPT 1; SPT1; SPTC1_HUMAN; SPTI; SPTLC 1; SPTLC1 antibody; serine palmitoyltransferase; long chain base subunit 1; anti-SPTLC1 antibody

• Reactivity: Human, Mouse, Rat
• Clonality: Polyclonal
• Purity/Purification: Immunogen Affinity Purified
• Form/Format: Lyophilized. Each vial contains 5mg BSA, 0.9mg NaCl, 0.2mg Na2HPO4, 0.05mg NaN3.
• Sequence Length: 513

• Applicable Applications for anti-SPTLC1 antibody: Western Blot (WB), Immunohistochemistry (IHC) Paraffin
• Application Notes: Western Blot Concentration: 0.1-0.5ug/ml; Immunohistochemistry (IHC) Paraffin Concentration: 0.5-1ug/ml
• Immunogen: A synthetic peptide corresponding to a sequence at the C-terminus of human SPTLC1 (444-473aa IRVVVTVEQTEEELERAASTIKEVAQAVLL), different from the related mouse sequence by three amino acids.
• Ig Type: Rabbit IgG
• Reconstitution: Add 0.2ml of distilled water will yield a concentration of 500ug/ml.
• Preparation and Storage: At -20 degree C for one year. After reconstitution, at 4 degree C for one month. It can also be aliquoted and stored frozen at -20 degree C for a longer time. Avoid repeated freezing and thawing.

Western Blot (WB)

(Western blot analysis of SPTLC1 expression in rat brain extract (lane 1), mouse brain extract (lane 2) and MCF-7 whole cell lysates (lane 3). SPTLC1 at 53KD was detected using rabbit anti- SPTLC1 Antigen Affinity purified polyclonal antibody at0.5 ug/mL. The blot was developed using chemiluminescence (ECL) method. )

Immunohistochemistry (IHC)

(SPTLC1 was detected in paraffin-embedded sections of human intestinal cancer tissues using rabbit anti- SPTLC1 Antigen Affinity purified polyclonal antibody at 1ug/mL. The immunohistochemical section was developed using SABC method. )

Related Product Information for anti-SPTLC1 antibody

Description: Rabbit IgG polyclonal antibody for Serine palmitoyltransferase 1(SPTLC1) detection. Tested with WB, IHC-P in Human;Mouse;Rat.

Background: SPTLC1(Serine palmitoyltransferase, long chain base subunit 1), also known as SPT1, LCB1, is a protein which in humans is encoded by the SPTLC1 gene. Dawkins et al. (2001) noted that the SPTLC1 gene maps to chromosome 9q22.1-q22.3. Serine palmitoyltransferase, which consists of two different subunits, is the initial 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.

References

1. Dawkins, J. L., Hulme, D. J., Brahmbhatt, S. B., Auer-Grumbach, M., Nicholson, G. A.Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.Nature Genet. 27: 309-312, 2001. 2. McCampbell, A., Truong, D., Broom, D. C., Allchorne, A., Gable, K., Cutler, R. G., Mattson, M. P., Woolf, C. J., Frosch, M. P., Harmon, J. M., Dunn, T. M., Brown, R. H., Jr.Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy.Hum. Molec. Genet. 14: 3507-3521, 2005. 3. Verhoeven, K., Coen, K., De Vriendt, E., Jacobs, A., Van Gerwen, V., Smouts, I., Pou-Serradell, A., Martin, J.-J., Timmerman, V., De Jonghe, P.SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.Neurology 62: 1001-1002, 2004.

NCBI and Uniprot Product Information

• NCBI GI #: 526252798
• NCBI GeneID: 10558
• NCBI Accession #: NP_001268232.1
• NCBI GenBank Nucleotide #: NM_001281303.1
• UniProt Accession #: O15269; Q5VWB4; Q96IX6; A8K681
• Molecular Weight: 16,073 Da
• NCBI Official Full Name: serine palmitoyltransferase 1 isoform c
• 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
• 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; Membrane protein, integral; EC 2.3.1.50; Transferase

Chromosomal Location of Human Ortholog: 9q22.2

Cellular Component: endoplasmic reticulum membrane; integral to membrane

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

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

Disease: Neuropathy, Hereditary Sensory And Autonomic, Type Ia