Property Summary

NCBI Gene PubMed Count 42
Grant Count 45
R01 Count 36
Funding $5,859,575.67
PubMed Score 141.01
PubTator Score 86.47

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Gene RIF (24)

PMID Text
26446223 This study describe aberrant morphology of SPTLC1C133W Dorsal Root Ganglia characterized by increased neurite growth, branching, and expression of p-ERM at neuronal growth cones.
25567748 A novel SPTLC2-S384F variant in 2 unrelated HSAN1 families resulted in elevated plasma 1-deoxySL levels. Expression of this mutant in HEK293 cells increased 1-deoxySL formation. The substrate specificity is affected by phosphorylation at this position.
24673574 SPTLC1 mutations cause mitochondrial abnormalities and ER stress in HSN1 cells.
24247255 Therefore, Ser331 in SPTLC1 is a crucial amino acid, which characterizes the Hereditary sensory and autonomic neuropathy type I phenotype
23629659 Endoplasmic reticulum-resident human protein serine palmitoyltransferase long chain-1 (SPTLC1) is phosphorylated at Tyr(164) by the tyrosine kinase ABL.
23025307 HIV-1 Tat upregulates serine palmitoyltransferase, long chain base subunit 1 (SPTLC1, SPT1) expression in Jurkat T-cells
22302274 The p.CYS133Trp mutation in SPTLC1 is the most common cause of hereditary and autonomic neuropathy in the United Kingdom population.
21618344 SPTLC1 mutations p.S331F and p.A352V result in a reduction of serine palmitoyltransferase activity in vitro and are associated with increased levels of the deoxysphingoid in patients' plasma samples.
20634891 Observational study of gene-disease association. (HuGE Navigator)
20097765 Hereditary sensory neuropathy type 1 is caused by a gain of function mutation in SPTLC1 which causes the accumulation of two neurotoxic sphingolipids
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AA Sequence

MATATEQWVLVEMVQALYEAPAYHLILEGILILWIIRLLFSKTYKLQERSDLTVKEKEELIEEWQPEPLV      1 - 70
PPVPKDHPALNYNIVSGPPSHKTVVNGKECINFASFNFLGLLDNPRVKAAALASLKKYGVGTCGPRGFYG     71 - 140
TFDVHLDLEDRLAKFMKTEEAIIYSYGFATIASAIPAYSKRGDIVFVDRAACFAIQKGLQASRSDIKLFK    141 - 210
HNDMADLERLLKEQEIEDQKNPRKARVTRRFIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFG    211 - 280
VLGEHGRGVTEHYGINIDDIDLISANMENALASIGGFCCGRSFVIDHQRLSGQGYCFSASLPPLLAAAAI    281 - 350
EALNIMEENPGIFAVLKEKCGQIHKALQGISGLKVVGESLSPAFHLQLEESTGSREQDVRLLQEIVDQCM    351 - 420
NRSIALTQARYLEKEEKCLPPPSIRVVVTVEQTEEELERAASTIKEVAQAVLL                     421 - 473
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Text Mined References (50)

PMID Year Title
26446223 2015 Substrate Availability of Mutant SPT Alters Neuronal Branching and Growth Cone Dynamics in Dorsal Root Ganglia.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25691431 2015 ORMDL/serine palmitoyltransferase stoichiometry determines effects of ORMDL3 expression on sphingolipid biosynthesis.
25567748 2015 Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity.
25332431 2014 Autophagy regulates sphingolipid levels in the liver.
25140149 2014 Genetic variation modifies risk for neurodegeneration based on biomarker status.
24673574 2014 Mutations in the SPTLC1 protein cause mitochondrial structural abnormalities and endoplasmic reticulum stress in lymphoblasts.
24247255 2014 Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation.
23629659 2013 Phosphorylation of serine palmitoyltransferase long chain-1 (SPTLC1) on tyrosine 164 inhibits its activity and promotes cell survival.
23454272 2013 Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype.
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