SPTLC1

SPTLC1
Identifiers
Aliases	SPTLC1, HSAN1, HSN1, LBC1, LCB1, SPT1, SPTI, serine palmitoyltransferase long chain base subunit 1
External IDs	OMIM: 605712; MGI: 1099431; HomoloGene: 4681; GeneCards: SPTLC1; OMA:SPTLC1 - orthologs
Gene location (Human)
Chr.	Chromosome 9 (human)
End	92,115,413 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	53,531,433 bp
RNA expression pattern
	Top expressed in
	oral cavity; ; skin of hip; ; mucosa of sigmoid colon; ; Achilles tendon; ; skin of thigh; ; germinal epithelium; ; Epithelium of choroid plexus; ; mucosa of pharynx; ; vulva; ; mucosa of paranasal sinus;
	Top expressed in
	gastrula; ; decidua; ; submandibular gland; ; retinal pigment epithelium; ; transitional epithelium of urinary bladder; ; saccule; ; ciliary body; ; iris; ; parotid gland; ; secondary oocyte;
	More reference expression data
	n/a
Gene ontology
Molecular function	serine C-palmitoyltransferase activity; acyltransferase activity; protein binding; pyridoxal phosphate binding; catalytic activity; transferase activity;
Cellular component	integral component of membrane; membrane; SPOTS complex; serine C-palmitoyltransferase complex; endoplasmic reticulum membrane; endoplasmic reticulum;
Biological process	sphingolipid metabolic process; sphinganine biosynthetic process; sphingosine biosynthetic process; sphingomyelin biosynthetic process; positive regulation of lipophagy; lipid metabolism; sphingolipid biosynthetic process; biosynthesis; ceramide biosynthetic process; regulation of fat cell apoptotic process;
	Sources:Amigo / QuickGO
Orthologs
	10558
	268656
	ENSG00000090054
	ENSMUSG00000021468
	O15269
	O35704
	NM_001281303; NM_006415; NM_178324; NM_001368272; NM_001368273
	NM_009269
	NP_001268232; NP_006406; NP_847894; NP_001355201; NP_001355202
	NP_033295
	Wikidata
View/Edit Human	View/Edit Mouse

Serine palmitoyltransferase, long chain base subunit 1, also known as SPTLC1, is a protein which in humans is encoded by the SPTLC1 gene.^[5]^[6]

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. Alternatively spliced variants encoding different isoforms have been identified.^[5]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000090054 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000021468 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: SPTLC1 serine palmitoyltransferase, long chain base subunit 1".
^ Weiss B, Stoffel W (October 1997). "Human and murine serine-palmitoyl-CoA transferase--cloning, expression and characterization of the key enzyme in sphingolipid synthesis". Eur. J. Biochem. 249 (1): 239–47. doi:10.1111/j.1432-1033.1997.00239.x. PMID 9363775.

External links

GeneReviews/NIH/NCBI/UW entry on Hereditary Sensory Neuropathy Type I

Template:PBB Controls

This protein-related article is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000090054 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000021468 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: SPTLC1 serine palmitoyltransferase, long chain base subunit 1".

[pmid9363775-6] Weiss B, Stoffel W (October 1997). "Human and murine serine-palmitoyl-CoA transferase--cloning, expression and characterization of the key enzyme in sphingolipid synthesis". Eur. J. Biochem. 249 (1): 239–47. doi:10.1111/j.1432-1033.1997.00239.x. PMID 9363775.

[1]

[2]

[3]

[4]

[5]

[6]

v t e Transferases: acyltransferases (EC 2.3)
2.3.1: other than amino-acyl groups	acetyltransferases: Acetyl-Coenzyme A acetyltransferase N-Acetylglutamate synthase Choline acetyltransferase Dihydrolipoyl transacetylase Acetyl-CoA C-acyltransferase Beta-galactoside transacetylase Chloramphenicol acetyltransferase N-acetyltransferase Serotonin N-acetyl transferase HGSNAT ARD1A Histone acetyltransferase P300/CBP NAT2 palmitoyltransferases: Carnitine O-palmitoyltransferase CPT1 CPT2 Serine C-palmitoyltransferase SPTLC1 SPTLC2 other: Acyltransferase like 2 Aminolevulinic acid synthase Beta-ketoacyl-ACP synthase Glyceronephosphate O-acyltransferase Lecithin—cholesterol acyltransferase Glycerol-3-phosphate O-acyltransferase 1-acylglycerol-3-phosphate O-acyltransferase 2-acylglycerol-3-phosphate O-acyltransferase ABHD5
2.3.2: Aminoacyltransferases	Gamma-glutamyl transpeptidase Peptidyl transferase Transglutaminase Tissue transglutaminase Keratinocyte transglutaminase Factor XIII
2.3.3: converted into alkyl on transfer	Citrate synthase Decylcitrate synthase Citrate (Re)-synthase Decylhomocitrate synthase 2-methylcitrate synthase 2-ethylmalate synthase 3-ethylmalate synthase ATP citrate lyase Malate synthase HMG-CoA synthase HMGCS2 2-hydroxyglutarate synthase 3-propylmalate synthase 2-isopropylmalate synthase Homocitrate synthase Sulfoacetaldehyde acetyltransferase

References

Further reading

External links