Details for: SPTLC1
Associated with
Other Information
Genular Protein ID: 1362049628
Symbol: SPTC1_HUMAN
Name: Serine palmitoyltransferase 1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 9363775
Title: Human and murine serine-palmitoyl-CoA transferase. Cloning, expression and characterization of the key enzyme in sphingolipid synthesis.
PubMed ID: 9363775
PubMed ID: 11242114
Title: Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.
PubMed ID: 11242114
DOI: 10.1038/85879
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15164053
Title: DNA sequence and analysis of human chromosome 9.
PubMed ID: 15164053
DOI: 10.1038/nature02465
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 17023427
Title: Cloning and initial characterization of a new subunit for mammalian serine-palmitoyltransferase.
PubMed ID: 17023427
PubMed ID: 19648650
Title: The SPTLC3 subunit of serine palmitoyltransferase generates short chain sphingoid bases.
PubMed ID: 19648650
PubMed ID: 19416851
Title: Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities.
PubMed ID: 19416851
PubMed ID: 20504773
Title: A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity.
PubMed ID: 20504773
PubMed ID: 20182505
Title: Orm family proteins mediate sphingolipid homeostasis.
PubMed ID: 20182505
DOI: 10.1038/nature08787
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 21994399
Title: MicroRNA-137/181c regulates serine palmitoyltransferase and in turn amyloid beta, novel targets in sporadic Alzheimer's disease.
PubMed ID: 21994399
PubMed ID: 23629659
Title: Phosphorylation of serine palmitoyltransferase long chain-1 (SPTLC1) on tyrosine 164 inhibits its activity and promotes cell survival.
PubMed ID: 23629659
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
PubMed ID: 30700557
Title: The ORMDL/Orm-serine palmitoyltransferase (SPT) complex is directly regulated by ceramide: Reconstitution of SPT regulation in isolated membranes.
PubMed ID: 30700557
PubMed ID: 33558761
Title: Structural insights into the regulation of human serine palmitoyltransferase complexes.
PubMed ID: 33558761
PubMed ID: 33558762
Title: Structural insights into the assembly and substrate selectivity of human SPT-ORMDL3 complex.
PubMed ID: 33558762
PubMed ID: 37308477
Title: Ceramide sensing by human SPT-ORMDL complex for establishing sphingolipid homeostasis.
PubMed ID: 37308477
PubMed ID: 15037712
Title: SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.
PubMed ID: 15037712
PubMed ID: 17060578
Title: Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene.
PubMed ID: 17060578
PubMed ID: 16959974
Title: The consensus coding sequences of human breast and colorectal cancers.
PubMed ID: 16959974
PubMed ID: 19651702
Title: Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
PubMed ID: 19651702
DOI: 10.1093/brain/awp198
PubMed ID: 19132419
Title: A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated.
PubMed ID: 19132419
PubMed ID: 21618344
Title: Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.
PubMed ID: 21618344
DOI: 10.1002/humu.21481
PubMed ID: 22302274
Title: Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.
PubMed ID: 22302274
PubMed ID: 23454272
Title: Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype.
PubMed ID: 23454272
PubMed ID: 24247255
Title: Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation.
PubMed ID: 24247255
PubMed ID: 30420926
Title: V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I.
PubMed ID: 30420926
DOI: 10.1155/2018/1898151
PubMed ID: 34459874
Title: Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
PubMed ID: 34459874
PubMed ID: 34059824
Title: Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
PubMed ID: 34059824
PubMed ID: 36204986
Title: A de novo c.113 T > C: p.L38R mutation of SPTLC1: case report of a girl with sporadic juvenile amyotrophic lateral sclerosis.
PubMed ID: 36204986
Sequence Information:
- Length: 473
- Mass: 52744
- Checksum: BA9E056A869D2EA2
- Sequence:
MATATEQWVL VEMVQALYEA PAYHLILEGI LILWIIRLLF SKTYKLQERS DLTVKEKEEL IEEWQPEPLV PPVPKDHPAL NYNIVSGPPS HKTVVNGKEC INFASFNFLG LLDNPRVKAA ALASLKKYGV GTCGPRGFYG TFDVHLDLED RLAKFMKTEE AIIYSYGFAT IASAIPAYSK RGDIVFVDRA ACFAIQKGLQ ASRSDIKLFK HNDMADLERL LKEQEIEDQK NPRKARVTRR FIVVEGLYMN TGTICPLPEL VKLKYKYKAR IFLEESLSFG VLGEHGRGVT EHYGINIDDI DLISANMENA LASIGGFCCG RSFVIDHQRL SGQGYCFSAS LPPLLAAAAI EALNIMEENP GIFAVLKEKC GQIHKALQGI SGLKVVGESL SPAFHLQLEE STGSREQDVR LLQEIVDQCM NRSIALTQAR YLEKEEKCLP PPSIRVVVTV EQTEEELERA ASTIKEVAQA VLL
Genular Protein ID: 2236438418
Symbol: Q6NUL7_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
Sequence Information:
- Length: 513
- Mass: 57396
- Checksum: F8870EF1B008FEC3
- Sequence:
MATATEQWVL VEMVQALYEA PAYHLILEGI LILWIIRLLF SKTYKLQERS DLTVKEKEEL IEEWQPEPLV PPVPKDHPAL NYNIVSGPPS HKTVVNGKEC INFASFNFLG LLDNPRVKAA ALASLKKYGV GTCGPRGFYG TFDVHLDLED RLAKFMKTEE AIIYSYGFAT IASAIPAYSK RGDIVFVDRA ACFAIQKGLQ ASRSDIKLFK HNDMADLERL LKEQEIEDQK NPRKARVTRR FIVVEGLYMN TGTICPLPEL VKLKYKYKAR IFLEESLSFG VLGEHGRGVT EHYGINIDDI DLISANMENA LASIGGFCCG RSFVIDHQRL SGQGYCFSAS LPPLLAAAAI EALNIMEENP GIFAVLKEKC GQIHKALQGI SGLKVVGESL SPAFHLQLEE STGSREQDVR LLQEIVDQCM NRSIALTRAR YLEKEEKCLP PPRGRTGESC VHHQGGSPGR PALGRVPGPW PPATQHAERT QDSRWPWSGL KESKNMWIFD RIVTKWCQYG PIV
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.