| SPTLC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | SPTLC2 , HSN1C, LCB2, LCB2A, NSAN1C, SPT2, hLCB2a, serine palmitoyltransferase long chain base subunit 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 605713 MGI: 108074 HomoloGene: 21610 GeneCards: SPTLC2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Serine palmitoyltransferase, long chain base subunit 2, also known as SPTLC2, is a protein which in humans is encoded by the SPTLC2 gene. [5] [6] [7] SPTLC2 belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
SPTLC2 encodes a long chain base subunit of serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. It catalyzes the pyridoxal 5'-phosphate dependent condensation of L-serine with an acyl-CoA thioester to yield an amino alcohol. The composition of the SPT complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC2-SPTSSB complex displays a preference for C18-CoA substrate.
The SPT complex synthesizes molecules used in various biological processes. For example, sphingosine, an 18-carbon amino alcohol with an unsaturated hydrocarbon chain, can be phosphorylated via sphingosine kinase. The resulting sphingosine-1-phosphate is a potent signaling lipid. Sphingosine is also a substrate for the synthesis of various other molecules including, ceramides, sphingomyelin, cerebrosides and globosides.
Epidermal ceramides are critical for normal skin barrier function and SPTLC2 is differentially expressed across body sites to regulate epidermal ceramide composition. In particular, SPTLC2 is upregulated in acral granular layer keratinocytes. [8]
SPTLC2 is widely expressed in all tissues.
Mutations in SPTLC2 were identified in patients with hereditary sensory neuropathy type I. [9]
In response to IL-17A and TNF, SPTLC2 is highly upregulated in psoriasis and is likely responsible for some of the epidermal ceramide alterations seen in psoriasis plaques. [8]
Alternatively spliced variants encoding different isoforms of SPTLC2 have been identified. [5]
SPTLC2 expression is highly increased at the protein level in brains of patients with Alzheimer's disease. No changes are observed at the mRNA level. [10]
Sphingolipids are a class of lipids containing a backbone of sphingoid bases, which are a set of aliphatic amino alcohols that includes sphingosine. They were discovered in brain extracts in the 1870s and were named after the mythological sphinx because of their enigmatic nature. These compounds play important roles in signal transduction and cell recognition. Sphingolipidoses, or disorders of sphingolipid metabolism, have particular impact on neural tissue. A sphingolipid with a terminal hydroxyl group is a ceramide. Other common groups bonded to the terminal oxygen atom include phosphocholine, yielding a sphingomyelin, and various sugar monomers or dimers, yielding cerebrosides and globosides, respectively. Cerebrosides and globosides are collectively known as glycosphingolipids.
Ceramides are a family of waxy lipid molecules. A ceramide is composed of sphingosine and a fatty acid joined by an amide bond. Ceramides are found in high concentrations within the cell membrane of eukaryotic cells, since they are component lipids that make up sphingomyelin, one of the major lipids in the lipid bilayer. Contrary to previous assumptions that ceramides and other sphingolipids found in cell membrane were purely supporting structural elements, ceramide can participate in a variety of cellular signaling: examples include regulating differentiation, proliferation, and programmed cell death (PCD) of cells.
Palmitoyl-CoA is an acyl-CoA thioester. It is an "activated" form of palmitic acid and can be transported into the mitochondrial matrix by the carnitine shuttle system, and once inside can participate in beta-oxidation. Alternatively, palmitoyl-CoA is used as a substrate in the biosynthesis of sphingosine.
In enzymology, a serine C-palmitoyltransferase (EC 2.3.1.50) is an enzyme that catalyzes the chemical reaction:
5'-AMP-activated protein kinase catalytic subunit alpha-1 is an enzyme that in humans is encoded by the PRKAA1 gene.
Serine palmitoyltransferase, long chain base subunit 1, also known as SPTLC1, is a protein which in humans is encoded by the SPTLC1 gene.
SNF-related serine/threonine-protein kinase is an enzyme that in humans is encoded by the SNRK gene.
Phosphorylase b kinase gamma catalytic chain, testis/liver isoform is an enzyme that in humans is encoded by the PHKG2 gene.
28S ribosomal protein S30, mitochondrial is a protein that in humans is encoded by the MRPS30 gene.
Prolyl 4-hydroxylase subunit alpha-2 is an enzyme that in humans is encoded by the P4HA2 gene.
39S ribosomal protein L15, mitochondrial is a protein that in humans is encoded by the MRPL15 gene.
Sphingosine-1-phosphate lyase 1 is an enzyme that in humans is encoded by the SGPL1 gene.
39S ribosomal protein L40, mitochondrial is a protein that in humans is encoded by the MRPL40 gene.
Sphingosine-1-phosphate phosphatase 1 is an enzyme that in humans is encoded by the SGPP1 gene.
Epidermal growth factor receptor kinase substrate 8-like protein 1 is an enzyme that in humans is encoded by the EPS8L1 gene.
39S ribosomal protein L17, mitochondrial is a protein that in humans is encoded by the MRPL17 gene.
28S ribosomal protein S25, mitochondrial is a protein that in humans is encoded by the MRPS25 gene.
Hereditary sensory and autonomic neuropathy type I or hereditary sensory neuropathy type I is a group of autosomal dominant inherited neurological diseases that affect the peripheral nervous system particularly on the sensory and autonomic functions. The hallmark of the disease is the marked loss of pain and temperature sensation in the distal parts of the lower limbs. The autonomic disturbances, if present, manifest as sweating abnormalities.
Ceramide synthase 2, also known as LAG1 longevity assurance homolog 2 or Tumor metastasis-suppressor gene 1 protein is an enzyme that in humans is encoded by the CERS2 gene.
ORMDL sphingolipid biosynthesis regulator 1 is a protein that in humans is encoded by the ORMDL1 gene.
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