SPTLC3 (serine palmitoyltransferase long chain base subunit 3)

2003-12-01  

Identity

HGNC
LOCATION
20p12.1
LOCUSID
ALIAS
C20orf38,LCB
FUSION GENES

Other Information

Locus ID:

NCBI: 55304
MIM: 611120
HGNC: 16253
Ensembl: ENSG00000172296

Variants:

dbSNP: 55304
ClinVar: 55304
TCGA: ENSG00000172296
COSMIC: SPTLC3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172296ENST00000399002Q9NUV7
ENSG00000172296ENST00000431275H0Y733
ENSG00000172296ENST00000434210B1AKS2
ENSG00000172296ENST00000450297B1AKS3

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Sphingolipid metabolismKEGGko00600
Sphingolipid metabolismKEGGhsa00600
Metabolic pathwaysKEGGhsa01100
Ceramide biosynthesisKEGGM00094
Sphingosine biosynthesisKEGGM00099
Ceramide biosynthesisKEGGhsa_M00094
Sphingosine biosynthesisKEGGhsa_M00099
Sphingolipid signaling pathwayKEGGhsa04071
Sphingolipid signaling pathwayKEGGko04071
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Sphingolipid de novo biosynthesisREACTOMER-HSA-1660661

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
200375892010A genome-wide perspective of genetic variation in human metabolism.252
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
170234272006Cloning and initial characterization of a new subunit for mammalian serine-palmitoyltransferase.63
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
196486502009The SPTLC3 subunit of serine palmitoyltransferase generates short chain sphingoid bases.52
173310732007Is the mammalian serine palmitoyltransferase a high-molecular-mass complex?36
280569802017Association of the SPTLC3 rs364585 polymorphism and serum lipid profiles in two Chinese ethnic groups.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
262651762015LC3B globular structures correlate with survival in esophageal adenocarcinoma.11
286735562017Exome sequencing identifies targets in the treatment-resistant ophthalmoplegic subphenotype of myasthenia gravis.2

Citation

Dessen P

SPTLC3 (serine palmitoyltransferase long chain base subunit 3)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/881/sptlc3