SPTLC1
Sign in to saveAlso known as HSAN1, HSN1, LBC1, LCB1, SPT1, SPTI, serine palmitoyltransferase long chain base subunit 1
Serine palmitoyltransferase, long chain base subunit 1, also known as SPTLC1, is a protein which in humans is encoded by the SPTLC1 gene.
Gene data
SPTLC1- Name
- serine palmitoyltransferase long chain base subunit 1
- Type
- protein-coding
- Position
- 92,000,087–92,115,491 (−)
- Aliases
- ALS27, HSAN1, HSN1, LBC1, LCB1, SPT1, SPTI
- Ensembl
- ENSG00000090054
- RefSeq RNA
- NM_001281303.2, NM_001368272.1, NM_001368273.1, NM_006415.4, NM_178324.3
- RefSeq protein
- NP_001268232.1, NP_001355201.1, NP_001355202.1, NP_006406.1, NP_847894.1
This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. Pseudogenes of this gene have been defined on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
serine palmitoyltransferase long chain base subunit 1
- Symbol
- SPTLC1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 9:92,000,087-92,115,491
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 4681
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/10558
- genomic end
- 92115413
- genomic start
- 92000087
- chromosome
- human chromosome 9
- cytogenetic location
- 9q22.31
Sources (4)
via Wikidata · CC0
~1 min read
Encyclopedic overview
3 sectionsContents
- References
- Further reading
- External links
Serine palmitoyltransferase, long chain base subunit 1, also known as SPTLC1, is a protein which in humans is encoded by the SPTLC1 gene.
Serine palmitoyltransferase, which consists of two different subunits, is the initial enzyme in sphingolipid biosynthesis. It converts L-serine and palmitoyl CoA to 3-oxosphinganine with pyridoxal 5'-phosphate as a cofactor. The product of this gene is the long chain base subunit 1 of serine palmitoyltransferase. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1, macular disease, and juvenile amyotrophic lateral sclerosis. Alternatively spliced variants encoding different isoforms have been identified.
Excerpted from Wikipedia’s “SPTLC1” article, available under the CC BY-SA 4.0 licence.