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    Sppl2a signal peptide peptidase like 2A [ Mus musculus (house mouse) ]

    Gene ID: 66552, updated on 9-Dec-2024

    Summary

    Official Symbol
    Sppl2aprovided by MGI
    Official Full Name
    signal peptide peptidase like 2Aprovided by MGI
    Primary source
    MGI:MGI:1913802
    See related
    Ensembl:ENSMUSG00000027366 AllianceGenome:MGI:1913802
    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
    2010106G01Rik; C130089K23Rik
    Summary
    Predicted to enable aspartic endopeptidase activity, intramembrane cleaving and protein homodimerization activity. Involved in membrane protein proteolysis and regulation of immune response. Located in late endosome membrane and lysosomal membrane. Is expressed in genitourinary system; skeleton; and thymus primordium. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Orthologous to human SPPL2A (signal peptide peptidase like 2A). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in bladder adult (RPKM 13.9), liver E18 (RPKM 10.3) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Sppl2a in Genome Data Viewer
    Location:
    2 F1; 2 61.76 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (126732311..126775706, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (126890391..126933791, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene transient receptor potential cation channel, subfamily M, member 7 Neighboring gene STARR-positive B cell enhancer ABC_E11158 Neighboring gene solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 3 pseudogene Neighboring gene microRNA 3473g Neighboring gene predicted gene, 46761 Neighboring gene STARR-seq mESC enhancer starr_05613 Neighboring gene STARR-seq mESC enhancer starr_05614 Neighboring gene STARR-seq mESC enhancer starr_05617 Neighboring gene STARR-seq mESC enhancer starr_05618 Neighboring gene predicted gene, 52496 Neighboring gene STARR-positive B cell enhancer ABC_E9531 Neighboring gene adaptor-related protein complex AP-4, epsilon 1 Neighboring gene STARR-seq mESC enhancer starr_05619

    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)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables aspartic endopeptidase activity, intramembrane cleaving IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables aspartic endopeptidase activity, intramembrane cleaving ISO
    Inferred from Sequence Orthology
    more info
     
    enables aspartic endopeptidase activity, intramembrane cleaving ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in membrane protein ectodomain proteolysis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in membrane protein ectodomain proteolysis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in membrane protein intracellular domain proteolysis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in membrane protein intracellular domain proteolysis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in membrane protein proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in membrane protein proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in membrane protein proteolysis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in membrane protein proteolysis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of immune response ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in Golgi-associated vesicle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in Golgi-associated vesicle membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in Golgi-associated vesicle membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in cytoplasmic side of endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasmic side of endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasmic side of endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in late endosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in late endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in lumenal side of endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in lumenal side of endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lumenal side of endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    signal peptide peptidase-like 2A
    Names
    IMP-3
    SPP-like 2A protein
    intramembrane protease 3
    presenilin-like protein 2
    protein SPPL2a
    NP_075709.2
    XP_036018348.1
    XP_036018349.1
    XP_036018350.1

    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_023220.2NP_075709.2  signal peptide peptidase-like 2A precursor

      See identical proteins and their annotated locations for NP_075709.2

      Status: VALIDATED

      Source sequence(s)
      AB041547, AI853709, AL732330
      Consensus CDS
      CCDS16690.1
      UniProtKB/Swiss-Prot
      A2AI51, Q8R354, Q9JJF9
      Related
      ENSMUSP00000028844.5, ENSMUST00000028844.11
      Conserved Domains (2) summary
      pfam04258
      Location:214499
      Peptidase_A22B; Signal peptide peptidase
      cl28883
      Location:44163
      PA; Protease-associated (PA) domain. The PA domain is an insert domain in a diverse fraction of proteases. The significance of the PA domain to many of the proteins in which it is inserted is undetermined. It may be a protein-protein interaction domain. At ...

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      126732311..126775706 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036162455.1XP_036018348.1  signal peptide peptidase-like 2A isoform X1

      Conserved Domains (2) summary
      pfam04258
      Location:214517
      Peptidase_A22B; Signal peptide peptidase
      cl28883
      Location:44163
      PA; Protease-associated (PA) domain. The PA domain is an insert domain in a diverse fraction of proteases. The significance of the PA domain to many of the proteins in which it is inserted is undetermined. It may be a protein-protein interaction domain. At ...
    2. XM_036162456.1XP_036018349.1  signal peptide peptidase-like 2A isoform X2

      Conserved Domains (2) summary
      pfam04258
      Location:206491
      Peptidase_A22B; Signal peptide peptidase
      cl28883
      Location:36155
      PA; Protease-associated (PA) domain. The PA domain is an insert domain in a diverse fraction of proteases. The significance of the PA domain to many of the proteins in which it is inserted is undetermined. It may be a protein-protein interaction domain. At ...
    3. XM_036162457.1XP_036018350.1  signal peptide peptidase-like 2A isoform X2

      Conserved Domains (2) summary
      pfam04258
      Location:206491
      Peptidase_A22B; Signal peptide peptidase
      cl28883
      Location:36155
      PA; Protease-associated (PA) domain. The PA domain is an insert domain in a diverse fraction of proteases. The significance of the PA domain to many of the proteins in which it is inserted is undetermined. It may be a protein-protein interaction domain. At ...

    RNA

    1. XR_004940684.1 RNA Sequence

    2. XR_004940683.1 RNA Sequence

    3. XR_004940682.1 RNA Sequence

    4. XR_004940687.1 RNA Sequence

    5. XR_004940685.1 RNA Sequence

    6. XR_004940686.1 RNA Sequence