Identity
HGNC
LOCATION
9q22.31
LOCUSID
ALIAS
HSAN1,HSN1,LBC1,LCB1,SPT1,SPTI
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10558
MIM: 605712
HGNC: 11277
Ensembl: ENSG00000090054
Variants:
dbSNP: 10558
ClinVar: 10558
TCGA: ENSG00000090054
COSMIC: SPTLC1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38927628 | 2024 | Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1). | 0 |
| 38927628 | 2024 | Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1). | 0 |
| 36689507 | 2023 | Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans. | 1 |
| 36801857 | 2023 | Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations. | 1 |
| 36966328 | 2023 | Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis. | 5 |
| 36689507 | 2023 | Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans. | 1 |
| 36801857 | 2023 | Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations. | 1 |
| 36966328 | 2023 | Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis. | 5 |
| 34986032 | 2022 | Calcium-Mediated Calpain Activation and Microtubule Dissociation in Cell Model of Hereditary Sensory Neuropathy Type-1 Expressing V144D SPTLC1 Mutation. | 1 |
| 35627278 | 2022 | New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1. | 2 |
| 35904184 | 2022 | The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment. | 4 |
| 34986032 | 2022 | Calcium-Mediated Calpain Activation and Microtubule Dissociation in Cell Model of Hereditary Sensory Neuropathy Type-1 Expressing V144D SPTLC1 Mutation. | 1 |
| 35627278 | 2022 | New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1. | 2 |
| 35904184 | 2022 | The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment. | 4 |
| 33558762 | 2021 | Structural 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/sptlc1-(serine-palmitoyltransferase-long-chain-base-subunit-1)
