Sptlc2 serine palmitoyltransferase, long chain base subunit 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sptlc2provided by MGI
Official Full Name: serine palmitoyltransferase, long chain base subunit 2provided by MGI
Primary source: MGI:MGI:108074
See related: Ensembl:ENSMUSG00000021036 AllianceGenome:MGI:108074
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: LCB2; Spt2; LCB2a
Summary: This gene encodes a long chain base subunit of serine palmitoyltransferase. The enzyme, serine palmitoyltransferase, consists of two different subunits, and is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. A mutant allele of this gene in mice is used as a model for the human disease 'Susceptibilty to Psoriasis 1'. Mutations in the human gene are associated with hereditary sensory neuropathy type I. [provided by RefSeq, Sep 2015]
Expression: Ubiquitous expression in placenta adult (RPKM 14.0), large intestine adult (RPKM 10.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 D2; 12 41.52 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (87351832..87435129, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (87305058..87388355, complement)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hepatic deletion of serine palmitoyl transferase 2 impairs ceramide/sphingomyelin balance, bile acids homeostasis and leads to liver damage in mice.
Title: Hepatic deletion of serine palmitoyl transferase 2 impairs ceramide/sphingomyelin balance, bile acids homeostasis and leads to liver damage in mice.
Upregulation of the serine palmitoyltransferase subunit SPTLC2 by endoplasmic reticulum stress inhibits the hepatic insulin response.
Title: Upregulation of the serine palmitoyltransferase subunit SPTLC2 by endoplasmic reticulum stress inhibits the hepatic insulin response.
The expression of SPT2 was stronger in vascular smooth muscle cells and neointima of carotid arteries from knock-out mice compared to wild-type.
Title: DJ-1-mediated upregulation of serine palmitoyltransferase 2 controls vascular neointima via S1P autocrine.
Data suggest that overexpression of serine palmitoyltransferase (Sptlc1 and Sptlc2, serine palmitoyltransferase long chain base subunit 1/2) to elevate de novo sphingolipid biosynthesis induces autophagy in the liver.
Title: Autophagy regulates sphingolipid levels in the liver.
SPTLC2 knockout mice showed decreased ceramide levels in the epidermis, which impaired water-holding capacity and barrier function.
Title: Barrier abnormality due to ceramide deficiency leads to psoriasiform inflammation in a mouse model.
Ldlr gene knockout mice with myeloid cell-specific Sptlc2 haploinsufficiency exhibited significantly less atherosclerosis than controls.
Title: Myeloid cell-specific serine palmitoyltransferase subunit 2 haploinsufficiency reduces murine atherosclerosis.
Data show that LCAT activity was significantly higher in long chain base biosynthesis protein 2 (Sptlc2)+/- and sphingomyelin synthase 2 (Sms2)-/- mice, but markedly lower in ApoE-/- and Ldlr-/- mice.
Title: Regulation of plasma cholesterol esterification by sphingomyelin: effect of physiological variations of plasma sphingomyelin on lecithin-cholesterol acyltransferase activity.
results suggest that Sptlc2-mediated de novo ceramide synthesis is an essential source of C18:0 and very long chain, but not of shorter chain, ceramides in the heart
Title: Cardiomyocyte specific deficiency of serine palmitoyltransferase subunit 2 reduces ceramide but leads to cardiac dysfunction.
Inflammatory response elicited by lipopolysaccharide increases serine palmitoyltransferase activity via upregulation of Sptlc2 in macrophages.
Title: Endotoxin activates de novo sphingolipid biosynthesis via nuclear factor kappa B-mediated upregulation of Sptlc2.
Deficiency of Sptlc2 induces necrotic lesions in gastrointestinal cells followed by atrophic change of the tissue in short term.
Title: Analysis of development of lesions in mice with serine palmitoyltransferase (SPT) deficiency -Sptlc2 conditional knockout mice-.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Gene trapped (1)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12Mit178 (e-PCR), detects polymorphism
- UniSTS:126733

BE115266 (e-PCR)
- UniSTS:261467

NoName (e-PCR)
- UniSTS:236912

D19271 (e-PCR)
- UniSTS:124799

AI173915 (e-PCR)
- UniSTS:160237

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables pyridoxal phosphate binding	IEA Inferred from Electronic Annotation more info
contributes_to serine C-palmitoyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to serine C-palmitoyltransferase activity	ISO Inferred from Sequence Orthology more info	PubMed
enables serine C-palmitoyltransferase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in adipose tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ceramide biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within ceramide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ceramide biosynthetic process	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of lipophagy	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of lipophagy	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sphinganine biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in sphingolipid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sphingolipid biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in sphingolipid biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sphingomyelin biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sphingosine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sphingosine biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sphingosine biosynthetic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HDA more info	PubMed
part_of serine palmitoyltransferase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of serine palmitoyltransferase complex	ISA Inferred from Sequence Alignment more info	PubMed
part_of serine palmitoyltransferase complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: serine palmitoyltransferase 2

Names: LCB 2; SPT 2; long chain base biosynthesis protein 2; long chain base biosynthesis protein 2a; serine-palmitoyl-CoA transferase 2

NP_035609.1

EC 2.3.1.50

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_011479.4 → NP_035609.1 serine palmitoyltransferase 2

See identical proteins and their annotated locations for NP_035609.1

Status: REVIEWED

Source sequence(s)

AK037908, AK044917, BY789607, CF747116, CT030249

Consensus CDS

CCDS26076.1

UniProtKB/Swiss-Prot

P97356, P97363

UniProtKB/TrEMBL

Q542D6

Related

ENSMUSP00000021424.5, ENSMUST00000021424.5

Conserved Domains (2) summary

PLN02483
Location:65 → 540

PLN02483; serine palmitoyltransferase

COG0156
Location:115 → 530

BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]