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

    Gene ID: 20773, updated on 23-Jun-2021

    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
    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
    Sp; LCB; 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
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    Genomic context

    See Sptlc2 in Genome Data Viewer
    Location:
    12; 12 D2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109 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)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 12 NC_000078.5 (88648839..88729180, complement)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 53736 Neighboring gene isthmin 2 Neighboring gene predicted gene, 51956 Neighboring gene predicted gene, 33444 Neighboring gene 60S ribosomal protein L21-like Neighboring gene alkB homolog 1, histone H2A dioxygenase Neighboring gene microRNA 3068

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Targeted (4)  1 citation
    • Endonuclease-mediated (1) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • mKIAA0526

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables acyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    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 transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in adipose tissue development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ceramide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    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
     
    acts_upstream_of_or_within sphingolipid metabolic process IEA
    Inferred from Electronic Annotation
    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
    PubMed 
    acts_upstream_of_or_within sphingosine biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion HDA PubMed 
    part_of serine C-palmitoyltransferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of serine C-palmitoyltransferase complex ISA
    Inferred from Sequence Alignment
    more info
    PubMed 
    part_of serine C-palmitoyltransferase complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)

    1. NM_011479.4NP_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
      P97363
      UniProtKB/TrEMBL
      Q542D6
      Related
      ENSMUSP00000021424.5, ENSMUST00000021424.5
      Conserved Domains (2) summary
      PLN02483
      Location:65540
      PLN02483; serine palmitoyltransferase
      COG0156
      Location:115530
      BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000078.7 Reference GRCm39 C57BL/6J

      Range
      87351832..87435129 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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