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
389276282024Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1).0
389276282024Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1).0
366895072023Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans.1
368018572023Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations.1
369663282023Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis.5
366895072023Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans.1
368018572023Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations.1
369663282023Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis.5
349860322022Calcium-Mediated Calpain Activation and Microtubule Dissociation in Cell Model of Hereditary Sensory Neuropathy Type-1 Expressing V144D SPTLC1 Mutation.1
356272782022New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1.2
359041842022The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.4
349860322022Calcium-Mediated Calpain Activation and Microtubule Dissociation in Cell Model of Hereditary Sensory Neuropathy Type-1 Expressing V144D SPTLC1 Mutation.1
356272782022New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1.2
359041842022The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.4
335587622021Structural insights into the assembly and substrate selectivity of human SPT-ORMDL3 complex.37

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/deep-insight-explorer/gene-fusions-explorer/