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- Table of Contents
Facts about Serine palmitoyltransferase 1.
The composition of this serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex indicates a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme utilizes both C14-CoA and C16-CoA as substrates, with a small preference for C14-CoA.
Human | |
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Gene Name: | SPTLC1 |
Uniprot: | O15269 |
Entrez: | 10558 |
Belongs to: |
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class-II pyridoxal-phosphate-dependent aminotransferase family |
EC 2.3.1.50; hereditary sensory neuropathy, type 1; HSAN1; LBC1; LCB 1; LCB1HSAN; Long chain base biosynthesis protein 1; MGC14645; serine C-palmitoyltransferase; serine palmitoyltransferase 1; serine palmitoyltransferase, long chain base subunit 1; Serine-palmitoyl-CoA transferase 1; SPT 1; SPT1HSN1; SPTI
Mass (kDA):
52.744 kDA
Human | |
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Location: | 9q22.31 |
Sequence: | 9; NC_000009.12 (92031141..92115413, complement) |
Widely expressed. Not detected in small intestine.
Endoplasmic reticulum membrane; Single-pass membrane protein.
PMID: 9363775 by Weiss B., et al. Human and murine serine-palmitoyl-CoA transferase. Cloning, expression and characterization of the key enzyme in sphingolipid synthesis.
PMID: 11242114 by Dawkins J.L., et al. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.