QuickView for SPTLC1 (gene)

Gene Symbol:

SPTLC1 Homo sapiens

Full name:

serine palmitoyltransferase long chain base subunit 1

Synonyms:

HSAN1, HSN1, LBC1, LCB1, SPT1, SPTI, serine palmitoyltransferase 1, LCB 1, SPT 1, long chain base biosynthesis protein 1, serine C-palmitoyltransferase, serine-palmitoyl-CoA transferase 1

Genomic Location:

Chr 9: 93833248-93917511

Description:

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. Mut...

View Full Description

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.

View Less

Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Schizosaccharomyces pombe ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Danio rerio ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GTGCCTT_MIR506 ,  AAGCACT_MIR520F ,  TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-15 ,  Predicted Gene Targets for miR-124a ,  Predicted Gene Targets for miR-137

Cytogenetic Map:

9q22.31

search → result