Property Summary

NCBI Gene PubMed Count 42
PubMed Score 141.01
PubTator Score 86.47

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
Multiple myeloma 1.173 8.6e-04
astrocytic glioma -1.400 3.1e-02
psoriasis -3.000 4.9e-04
medulloblastoma, large-cell -1.100 3.5e-03
autosomal dominant Emery-Dreifuss muscul... 1.115 2.0e-03
juvenile dermatomyositis 1.194 8.0e-14
acute quadriplegic myopathy 1.126 1.5e-06
tuberculosis -1.600 1.1e-04
intraductal papillary-mucinous neoplasm ... 1.500 3.1e-02
aldosterone-producing adenoma -1.076 1.9e-02
ovarian cancer -1.900 1.0e-07

Protein-protein Interaction (3)

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
19923297 Adult-onset hereditary sensory and autonomic neuropathy type (HSAN)I is the hypothetical result of a gain-of-function mutation in SPTLC1 that leads to accumulation of a toxic metabolite.
19651702 Observational study of gene-disease association. (HuGE Navigator)
19592499 Cell polarity factor Par3 binds SPTLC1 and modulates monocyte serine palmitoyltransferase activity and chemotaxis
19416851 discovery of 2 proteins, ssSPTa and ssSPTb, which each interacts with both hLCB1 and hLCB2, suggesting that there are 4 distinct human SPT isozymes.
19362163 SPT subunit 1 might be present also in focal adhesions and the nucleus.
19132419 we show that none of the HSAN I mutations interferes with serine palmitoyltransferase complex formation; the G387A mutation is most likely not directly associated with Hereditary sensory neuropathy type 1
18484747 Physical interaction of ABCA1 and SPTLC1 results in reduction of ABCA1 activity and that inhibition of this interaction produces enhanced cholesterol efflux.
18018475 SPTLC1 mutational analysis reveals the C133W mutation, a mutation common in British hereditary sensory and autonomic neuropathy type I patients.
17982236 serine palmitoyltransferase and ceramidase are two major ceramide metabolizing enzymes that may have roles in psoriatic epidermis
17331073 Results suggest that functional serine palmitoyltransferase is not a dimer, but a higher organized complex, composed of three distinct subunits (SPTLC1, SPTLC2 and SPTLC3) with a molecular mass of 480 kDa.
16210380 Transgenic mouse lines that ubiquitously overexpress either wild-type or mutant SPTLC1 represent a novel mouse model of peripheral neuropathy and confirm the link between mutant SPT and neuronal dysfunction.
15467453 SPT1 aggregation preceded cell death in hypoxia and represents the first evidence of acute protein aggregation during hypoxia.
15037712 A novel missense mutation in exon 13 of the SPTLC1 gene (c.1160G-->C; p.G387A) in twin sisters with a severe HSN I phenotype is reported.
12445191 an increase in transepidermal water loss is an obligatory trigger for the upregulation of serine palmitoyltransferase mRNA expression in human epidermis

AA Sequence

MATATEQWVLVEMVQALYEAPAYHLILEGILILWIIRLLFSKTYKLQERSDLTVKEKEELIEEWQPEPLV      1 - 70
PPVPKDHPALNYNIVSGPPSHKTVVNGKECINFASFNFLGLLDNPRVKAAALASLKKYGVGTCGPRGFYG     71 - 140
TFDVHLDLEDRLAKFMKTEEAIIYSYGFATIASAIPAYSKRGDIVFVDRAACFAIQKGLQASRSDIKLFK    141 - 210
HNDMADLERLLKEQEIEDQKNPRKARVTRRFIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFG    211 - 280
VLGEHGRGVTEHYGINIDDIDLISANMENALASIGGFCCGRSFVIDHQRLSGQGYCFSASLPPLLAAAAI    281 - 350
EALNIMEENPGIFAVLKEKCGQIHKALQGISGLKVVGESLSPAFHLQLEESTGSREQDVRLLQEIVDQCM    351 - 420
NRSIALTQARYLEKEEKCLPPPSIRVVVTVEQTEEELERAASTIKEVAQAVLL                     421 - 473
//

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.
22688191 2012 Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
22302274 2012 Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.
21618344 2011 Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.
21269460 2011 Initial characterization of the human central proteome.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20504773 2010 A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity.
20182505 2010 Orm family proteins mediate sphingolipid homeostasis.
20097765 2010 Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.
19923297 2009 Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1.
19651702 2009 Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
19592499 2009 Cell polarity factor Par3 binds SPTLC1 and modulates monocyte serine palmitoyltransferase activity and chemotaxis.
19416851 2009 Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities.
19362163 2009 Serine palmitoyltransferase subunit 1 is present in the endoplasmic reticulum, nucleus and focal adhesions, and functions in cell morphology.
19132419 2009 A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated.
18484747 2008 SPTLC1 binds ABCA1 to negatively regulate trafficking and cholesterol efflux activity of the transporter.
18018475 2007 Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese.
17982236 2007 A study on altered expression of serine palmitoyltransferase and ceramidase in psoriatic skin lesion.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17331073 2007 Is the mammalian serine palmitoyltransferase a high-molecular-mass complex?
17194770 2006 The essential nature of sphingolipids in plants as revealed by the functional identification and characterization of the Arabidopsis LCB1 subunit of serine palmitoyltransferase.
17060578 2006 Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene.
17023427 2006 Cloning and initial characterization of a new subunit for mammalian serine-palmitoyltransferase.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16210380 2005 Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15467453 2004 Hypoxia causes aggregation of serine palmitoyltransferase followed by non-apoptotic death of human lymphocytes.
15164053 2004 DNA sequence and analysis of human chromosome 9.
15037712 2004 SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14152213 1964 SENSORY RADICULAR NEUROPATHY ASSOCIATED WITH MUSCLE WASTING IN TWO CASES.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12445191 2002 Permeability barrier disruption increases the level of serine palmitoyltransferase in human epidermis.
11479835 2001 Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe.
11242114 2001 Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.
11242106 2001 SPTLC1 is mutated in hereditary sensory neuropathy, type 1.
10722759 2000 Serine palmitoyltransferase regulates de novo ceramide generation during etoposide-induced apoptosis.
10722674 2000 Purification of the serine palmitoyltransferase complex responsible for sphingoid base synthesis by using affinity peptide chromatography techniques.
10713067 2000 Tsc3p is an 80-amino acid protein associated with serine palmitoyltransferase and required for optimal enzyme activity.
9363775 1997 Human and murine serine-palmitoyl-CoA transferase--cloning, expression and characterization of the key enzyme in sphingolipid synthesis.