SPTLC1

GENE INFORMATION

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Gene name

SPTLC1 (HGNC Symbol)

Synonyms

hLCB1, HSAN1, HSN1, LCB1, SPTI

Description

Serine palmitoyltransferase, long chain base subunit 1 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

9

Cytoband

q22.31

Chromosome location (bp)

92031999 - 92115384

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000090054 (version 78.38)

Entrez gene

10558

UniProt

O15269 (UniProt - Evidence at protein level)

neXtProt

NX_O15269

Antibodypedia

SPTLC1 antibodies
 

PROTEIN VIEW

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SPTLC1-001
 
SPTLC1-002
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SPTLC1-001 ENSP00000262554
ENST00000262554
O15269
Show all »
Show » Show » 473 52.7 No 2
SPTLC1-002 ENSP00000337635
ENST00000337841
O15269
Show all »
Show » Show » 143 16.1 No 1