Gene and Protein Information
Species	TM	AA	Chromosomal Location	Gene Symbol	Gene Name	Reference
Human	1	473	9q22.31	SPTLC1	serine palmitoyltransferase long chain base subunit 1
Mouse	1	473	13 B1	Sptlc1	serine palmitoyltransferase, long chain base subunit 1
Rat	1	473	17p14	Sptlc1	serine palmitoyltransferase, long chain base subunit 1

Previous and Unofficial Names

hereditary sensory neuropathy, type 1 | HSN1 | LCB1 | Serine-palmitoyl-CoA transferase 1 | SPTI | serine palmitoyltransferase, long chain base subunit 1 | serine palmitoyltransferase

Database Links
Alphafold	O15269 (Hs), O35704 (Mm), D4A2H2 (Rn)
BRENDA	2.3.1.50
CATH/Gene3D	3.40.640.10, 3.90.1150.10
ChEMBL Target	CHEMBL1250343 (Hs)
Ensembl Gene	ENSG00000090054 (Hs), ENSMUSG00000021468 (Mm), ENSRNOG00000010882 (Rn)
Entrez Gene	10558 (Hs), 268656 (Mm), 361213 (Rn)
Human Protein Atlas	ENSG00000090054 (Hs)
KEGG Enzyme	2.3.1.50
KEGG Gene	hsa:10558 (Hs), mmu:268656 (Mm), rno:361213 (Rn)
OMIM	605712 (Hs)
Pharos	O15269 (Hs)
RefSeq Nucleotide	NM_178324 (Hs), NM_006415 (Hs), NM_009269 (Mm), NM_001108406 (Rn)
RefSeq Protein	NP_006406 (Hs), NP_847894 (Hs), NP_033295 (Mm), NP_001101876 (Rn)
UniProtKB	O15269 (Hs), O35704 (Mm), D4A2H2 (Rn)
Wikipedia	SPTLC1 (Hs)

Enzyme Reaction
EC Number: 2.3.1.50 L-serine + palmitoyl-CoA -> 3-ketosphinganine + coenzyme A + CO2

Cofactors
Cofactor Species Comments Reference pyridoxal 5-phosphate Human

Download all structure-activity data for this target as a CSV file

Inhibitors
Key to terms and symbols	View all chemical structures	Click column headers to sort
Ligand Sp. Action Value Parameter Reference myriocin Mm Inhibition 9.6 pKi 1 ⤷ pKi 9.6 (Ki 2.8x10-10 M) [1]

Clinically-Relevant Mutations and Pathophysiology
Disease:  Neuropathy, hereditary sensory and autonomic, type IA; HSAN1A Synonyms: Hereditary sensory and autonomic neuropathy [Disease Ontology: DOID:11533] Hereditary sensory and autonomic neuropathy type 1 [Orphanet: ORPHA36386] Disease Ontology: DOID:11533 OMIM: 162400 Orphanet: ORPHA36386