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    Sptssa serine palmitoyltransferase, small subunit A [ Mus musculus (house mouse) ]

    Gene ID: 104725, updated on 9-Dec-2024

    Summary

    Official Symbol
    Sptssaprovided by MGI
    Official Full Name
    serine palmitoyltransferase, small subunit Aprovided by MGI
    Primary source
    MGI:MGI:1913399
    See related
    Ensembl:ENSMUSG00000044408 AllianceGenome:MGI:1913399
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Ssspta; 1110002B05Rik
    Summary
    Predicted to contribute to serine C-palmitoyltransferase activity. Predicted to be involved in ceramide biosynthetic process; protein localization; and sphingosine biosynthetic process. Predicted to be located in endoplasmic reticulum. Predicted to be part of serine palmitoyltransferase complex. Is expressed in several structures, including aorta; brain; retina; spleen; and submandibular gland. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 90A and hereditary spastic paraplegia 90B. Orthologous to human SPTSSA (serine palmitoyltransferase small subunit A). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in duodenum adult (RPKM 80.7), adrenal adult (RPKM 58.1) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Sptssa in Genome Data Viewer
    Location:
    12 C1; 12 23.46 cM
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (54692159..54703357, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (54645374..54656572, complement)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 40425 Neighboring gene STARR-seq mESC enhancer starr_32167 Neighboring gene ribosomal protein L13 pseudogene Neighboring gene microRNA 1892 Neighboring gene predicted gene, 40884 Neighboring gene E2F-associated phosphoprotein Neighboring gene predicted gene, 36262

    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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (2) 

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    contributes_to serine C-palmitoyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    contributes_to serine C-palmitoyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables serine C-palmitoyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    contributes_to serine C-palmitoyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in ceramide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within ceramide biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in protein localization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein localization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sphingosine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sphingosine biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of serine palmitoyltransferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of serine palmitoyltransferase complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of serine palmitoyltransferase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    serine palmitoyltransferase small subunit A
    Names
    small subunit of serine palmitoyltransferase A

    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_134054.2NP_598815.2  serine palmitoyltransferase small subunit A

      See identical proteins and their annotated locations for NP_598815.2

      Status: VALIDATED

      Source sequence(s)
      AK003171, BG091867, BY072251
      Consensus CDS
      CCDS36445.1
      UniProtKB/Swiss-Prot
      Q8BHT2, Q8R207
      Related
      ENSMUSP00000053671.7, ENSMUST00000056228.8
      Conserved Domains (1) summary
      pfam11779
      Location:1063
      SPT_ssu-like; Small subunit of serine palmitoyltransferase-like

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    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
      54692159..54703357 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)