Rabbit anti-Human Serine Palmitoyltransferase 1 Polyclonal Antibody | anti-SPTLC1 antibody

Serine Palmitoyltransferase 1

Cat. Num. AAA395484

• Gene Names: SPTLC1; HSAN; HSN1; LBC1; LCB1; SPT1; SPTI; HSAN1; hLCB1
• Reactivity: Human
• Applications: Western Blot, Immunohistochemistry
• Purity: Antigen Immunoaffiinity Purification
• Synonyms: Serine Palmitoyltransferase 1; Polyclonal Antibody; Long chain base biosynthesis protein 1; LCB-1; LCB1; Serine-palmitoyl-CoA transferase 1; SPT1; SPT 1; SPT-1; anti-SPTLC1 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Antigen Immunoaffiinity Purification
• Form/Format: Provided as ligand affinity purified antibody in phosphate buffered saline with 0.08% sodium azide
• Sequence Length: 473

• Applicable Applications for anti-SPTLC1 antibody: Western Blot (WB), Immunohistochemistry (IHC)
• Immunogen: Synthetic peptide derived from the human serine palmitoyltransferase enzyme.
• Positive Control: Ubiquitously expressed
• Preparation and Storage: Product should be stored at -20 degree C. Aliquot to avoid freeze/thaw cycles

Immunohistochemistry (IHC)

(Left: Immunohistochemical staining of normal human lung tissue with serine palmitoyltransferase 1 antibody at 15 ug/ml.)

Related Product Information for anti-SPTLC1 antibody

Sphingolipids play essential roles in various cellular events, including proliferation, differentiation, senescence, apoptosis, and inflammatory responses. Serine palmitoyltransferase (SPT) is the initial and rate-limiting enzyme in the de novo sphingolipid biosynthesis, and thus regulates the level of sphingolipids in cells. Immunohistochemical study revealed widespread distribution of the enzyme with most strong expression in brain and digestive tract. Two subunits, SPT1 and SPT2 at a stoichiometry of 1:1, are involved in the enzymatic activity of SPT.

Product Categories/Family for anti-SPTLC1 antibody

Antigen Immunoaffinity Purified Polyclonal; Transcription Factors

NCBI and Uniprot Product Information

• NCBI GI #: 5454084
• NCBI GeneID: 10558
• NCBI Accession #: NP_006406.1
• NCBI GenBank Nucleotide #: NM_006415.2
• UniProt Accession #: O15269; Q5VWB4; Q96IX6; A8K681
• Molecular Weight: 52.7 kDa
• NCBI Official Full Name: serine palmitoyltransferase 1 isoform a
• NCBI Official Synonym Full Names: serine palmitoyltransferase, long chain base subunit 1
• NCBI Official Symbol: SPTLC1
• NCBI Official Synonym Symbols: HSAN; HSN1; LBC1; LCB1; SPT1; SPTI; HSAN1; hLCB1
• 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

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. [provided by RefSeq, Jul 2008]

Uniprot Description

Function: 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. Ref.8

Catalytic activity: Palmitoyl-CoA + L-serine = CoA + 3-dehydro-D-sphinganine + CO2. Ref.8

Cofactor: Pyridoxal phosphate

By similarity.

Pathway: Lipid metabolism; sphingolipid metabolism.

Subunit structure: Heterodimer with SPTLC2 or SPTLC3. Component of the serine palmitoyltransferase (SPT) complex, composed of SPTLC1, either SPTLC2 or SPTLC3, and either SPTSSA or SPTSSB. Interacts with SPTSSA and SPTSSB; the interaction is direct. Interacts with ORMDL3. Ref.8 Ref.10

Subcellular location: Endoplasmic reticulum membrane; Single-pass membrane protein

By similarity.

Tissue specificity: Widely expressed. Not detected in small intestine. Ref.7

Involvement in disease: Hereditary sensory and autonomic neuropathy 1A (HSAN1A) [MIM:162400]: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by prominent sensory abnormalities with a variable degree of motor and autonomic dysfunction. The neurological phenotype is often complicated by severe infections, osteomyelitis, and amputations. HSAN1A is an autosomal dominant axonal form 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2 Ref.9 Ref.15 Ref.16 Ref.17 Ref.18

Sequence similarities: Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.

Caution: Variant Ala-387 has been originally thought to cause HSAN1A (Ref.12). Subsequently, it has been shown to be a rare, benign polymorphism found in homozygous state in a healthy individual (Ref.16).

Biophysicochemical propertiesKinetic parameters:KM=0.75 mM for serine Ref.9Vmax=1350 pmol/min/mg enzyme