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MGP004284

Record overview

MGPD IDMGP004284
Gene ID10558
SpeciesHomo sapiens (Human)
Gene Nameserine palmitoyltransferase, long chain base subunit 1
Gene Symbol SPTLC1
SynonymsHSN1; LBC1; LCB1; SPT1; SPTI; HSAN1;
Alternate namesserine palmitoyltransferase 1; LCB 1; SPT 1; long chain base biosynthesis protein 1; serine C-palmitoyltransferase; serine-palmitoyl-CoA transferase 1;
Chromosome9
Map Location9q22.2
EC Number2.3.1.50
SummaryThis 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]
OrthologsView orthologs and multiple alignments for SPTLC1

Proteins

serine palmitoyltransferase 1 isoform a
Refseq ID:NP_006406
Protein GI:5454084
UniProt ID:O15269
mRNA ID:NM_006415
Length:473
RefSeq Status:
MATATEQWVLVEMVQALYEAPAYHLILEGILILWIIRLLFSKTYKLQERSDLTVKEKEELIEEWQPEPLVPPVPKDHPALNYNIVSGPPSHKTVVNGKEC
INFASFNFLGLLDNPRVKAAALASLKKYGVGTCGPRGFYGTFDVHLDLEDRLAKFMKTEEAIIYSYGFATIASAIPAYSKRGDIVFVDRAACFAIQKGLQ
ASRSDIKLFKHNDMADLERLLKEQEIEDQKNPRKARVTRRFIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFGVLGEHGRGVTEHYGINIDDI
DLISANMENALASIGGFCCGRSFVIDHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENPGIFAVLKEKCGQIHKALQGISGLKVVGESLSPAFHLQLEE
STGSREQDVRLLQEIVDQCMNRSIALTQARYLEKEEKCLPPPSIRVVVTVEQTEEELERAASTIKEVAQAVLL
 
serine palmitoyltransferase 1 isoform b
Refseq ID:NP_847894
Protein GI:30474871
UniProt ID:O15269
mRNA ID:NM_178324
Length:143
RefSeq Status:
MATATEQWVLVEMVQALYEAPAYHLILEGILILWIIRLLFSKTYKLQERSDLTVKEKEELIEEWQPEPLVPPVPKDHPALNYNIVSGPPSHKTVVNGKEC
INFASFNFLGLLDNPRVKAAALASLKKYGVGTCGPRGFYGTFE
 
serine palmitoyltransferase 1 isoform c
Refseq ID:NP_001268232
Protein GI:526252798
UniProt ID:O15269
mRNA ID:NM_001281303
Length:513
RefSeq Status:
MATATEQWVLVEMVQALYEAPAYHLILEGILILWIIRLLFSKTYKLQERSDLTVKEKEELIEEWQPEPLVPPVPKDHPALNYNIVSGPPSHKTVVNGKEC
INFASFNFLGLLDNPRVKAAALASLKKYGVGTCGPRGFYGTFDVHLDLEDRLAKFMKTEEAIIYSYGFATIASAIPAYSKRGDIVFVDRAACFAIQKGLQ
ASRSDIKLFKHNDMADLERLLKEQEIEDQKNPRKARVTRRFIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFGVLGEHGRGVTEHYGINIDDI
DLISANMENALASIGGFCCGRSFVIDHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENPGIFAVLKEKCGQIHKALQGISGLKVVGESLSPAFHLQLEE
STGSREQDVRLLQEIVDQCMNRSIALTQARYLEKEEKCLPPPRGRTGESCVHHQGGSPGRPALGRVPGPWPPATQHAERTQDSRWPWSGLKESKNMWIFD
RIVTKWCQYGPIV
 
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