SPTLC1 (serine palmitoyltransferase long chain base subunit 1)

2014-08-01  

Identity

HGNC
SPTLC1
LOCATION
9q22.31
LOCUSID
10558
ALIAS
HSAN1,HSN1,LBC1,LCB1,SPT1,SPTI
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10558
MIM: 605712
HGNC: 11277
Ensembl: ENSG00000090054

Variants:

dbSNP: 10558
ClinVar: 10558
TCGA: ENSG00000090054
COSMIC: SPTLC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000090054ENST00000262554O15269
ENSG00000090054ENST00000262554A0A024R277
ENSG00000090054ENST00000337841O15269
ENSG00000090054ENST00000642671A0A2R8Y763
ENSG00000090054ENST00000643599A0A2R8Y763
ENSG00000090054ENST00000644140A0A2R8Y4S0
ENSG00000090054ENST00000646481A0A2R8Y763
ENSG00000090054ENST00000646534A0A2R8Y6A2

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
200977652010Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.88
194168512009Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities.75
196517022009Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.41
173310732007Is the mammalian serine palmitoyltransferase a high-molecular-mass complex?36
199232972009Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1.33
162103802005Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy.27
184847472008SPTLC1 binds ABCA1 to negatively regulate trafficking and cholesterol efflux activity of the transporter.19
223022742012Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.19
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18
216183442011Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.17

Citation

Dessen P

SPTLC1 (serine palmitoyltransferase long chain base subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54668/sptlc1