Identity
HGNC
LOCATION
14q13.1
LOCUSID
ALIAS
C14orf147,SSSPTA
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: 171546
MIM: 613540
HGNC: 20361
Ensembl: ENSG00000165389
Variants:
dbSNP: 171546
ClinVar: 171546
TCGA: ENSG00000165389
COSMIC: SPTSSA
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000165389 | ENST00000298130 | Q969W0 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36718090 | 2023 | SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia. | 8 |
| 36718090 | 2023 | SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia. | 8 |
| 32029474 | 2020 | A genome-wide CRISPR/Cas9 screen reveals that the aryl hydrocarbon receptor stimulates sphingolipid levels. | 19 |
| 32029474 | 2020 | A genome-wide CRISPR/Cas9 screen reveals that the aryl hydrocarbon receptor stimulates sphingolipid levels. | 19 |
| 23510452 | 2013 | Identification of small subunit of serine palmitoyltransferase a as a lysophosphatidylinositol acyltransferase 1-interacting protein. | 8 |
| 23510452 | 2013 | Identification of small subunit of serine palmitoyltransferase a as a lysophosphatidylinositol acyltransferase 1-interacting protein. | 8 |
| 19416851 | 2009 | Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities. | 134 |
| 19416851 | 2009 | Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities. | 134 |
Citation
Dessen P
SPTSSA (serine palmitoyltransferase small subunit A)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74219/sptssa-(serine-palmitoyltransferase-small-subunit-a)
