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    Sppl2c signal peptide peptidase 2C [ Mus musculus (house mouse) ]

    Gene ID: 237958, updated on 9-May-2024

    Summary

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    Official Symbol
    Sppl2cprovided by MGI
    Official Full Name
    signal peptide peptidase 2Cprovided by MGI
    Primary source
    MGI:MGI:3045264
    See related
    Ensembl:ENSMUSG00000049506 AllianceGenome:MGI:3045264
    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
    IMP5; 4933407P14Rik
    Summary
    Predicted to enable aspartic endopeptidase activity, intramembrane cleaving and protein homodimerization activity. Predicted to be involved in membrane protein proteolysis. Predicted to act upstream of or within proteolysis. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in Golgi-associated vesicle membrane and lysosomal membrane. Predicted to be integral component of cytoplasmic side of endoplasmic reticulum membrane and integral component of lumenal side of endoplasmic reticulum membrane. Orthologous to human SPPL2C (signal peptide peptidase like 2C). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis adult (RPKM 311.2) See more
    Orthologs
    human all
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    Genomic context

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    See Sppl2c in Genome Data Viewer
    Location:
    11 E1; 11 67.79 cM
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (104077153..104081992)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (104186327..104191166)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 51921 Neighboring gene predicted gene, 42092 Neighboring gene predicted gene, 35469 Neighboring gene corticotropin releasing hormone receptor 1 Neighboring gene STARR-seq mESC enhancer starr_30874 Neighboring gene predicted gene, 53648 Neighboring gene microtubule-associated protein tau Neighboring gene predicted gene, 22743

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Signal peptide peptidase-like 2c impairs vesicular transport and cleaves SNARE proteins. Papadopoulou AA, et al. EMBO Rep, 2019 Mar. PMID 30733281, Free PMC Article
    2. C11orf94/Frey is a key regulator for male fertility by controlling Izumo1 complex assembly. Contreras W, et al. Sci Adv, 2022 Aug 12. PMID 35960805, Free PMC Article
    3. The intramembrane protease SPPL2c promotes male germ cell development by cleaving phospholamban. Niemeyer J, et al. EMBO Rep, 2019 Mar. PMID 30733280, Free PMC Article
    4. CRISPR/Cas9-mediated genome-edited mice reveal 10 testis-enriched genes are dispensable for male fecundity. Park S, et al. Biol Reprod, 2020 Aug 4. PMID 32561905, Free PMC Article
    5. BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. Magdaleno S, et al. PLoS Biol, 2006 Apr. PMID 16602821, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. These data suggest involvement of SPPL2c in acrosome formation during spermatogenesis.
      Title: Signal peptide peptidase-like 2c impairs vesicular transport and cleaves SNARE proteins.
    2. the sarco/endoplasmic reticulum Ca(2+)-ATPase (SERCA2)-regulating protein phospholamban (PLN) is identified as a physiological SPPL2c substrate.
      Title: The intramembrane protease SPPL2c promotes male germ cell development by cleaving phospholamban.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    General gene information

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    Homology

    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables aspartic-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in acrosome assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in fusion of sperm to egg plasma membrane involved in single fertilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intracellular calcium ion homeostasis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in membrane protein intracellular domain proteolysis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in membrane protein proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein stabilization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi-associated vesicle membrane IBA
    Inferred from Biological aspect of Ancestor
    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 endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    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
    		  
    is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    signal peptide peptidase-like 2C
    Names
    IMP-5
    SPP-like 2C
    intramembrane protease 5
    ortholog of human intramembrane protease 5 IMP5
    protein SPP-like 2C
    protein SPPL2c

    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)

    1. NM_001082535.1 → NP_001076004.1  signal peptide peptidase-like 2C isoform b precursor

      See identical proteins and their annotated locations for NP_001076004.1

      Status: VALIDATED

      Source sequence(s)
      AK077122, BC090973, BC100418, CF197856
      Consensus CDS
      CCDS36351.1
      UniProtKB/Swiss-Prot
      A2A6C4
      Related
      ENSMUSP00000091453.6, ENSMUST00000059448.8
      Conserved Domains (2) summary
      cl01342
      Location:254 → 538
      Peptidase_A22B; Signal peptide peptidase
      cl10459
      Location:44 → 181
      Peptidases_S8_S53; Peptidase domain in the S8 and S53 families

    2. NM_199019.2 → NP_950184.2  signal peptide peptidase-like 2C isoform a precursor

      See identical proteins and their annotated locations for NP_950184.2

      Status: VALIDATED

      Source sequence(s)
      AK077122, AV279514, BC090973
      Consensus CDS
      CCDS36352.1
      UniProtKB/Swiss-Prot
      A2A6C4, Q497R4, Q8BHP0
      Related
      ENSMUSP00000102613.2, ENSMUST00000107000.2
      Conserved Domains (2) summary
      cl01342
      Location:254 → 538
      Peptidase_A22B; Signal peptide peptidase
      cl10459
      Location:44 → 181
      Peptidases_S8_S53; Peptidase domain in the S8 and S53 families

    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_000077.7 Reference GRCm39 C57BL/6J

      Range
      104077153..104081992
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A2A6C4.1 GenPept UniProtKB/Swiss-Prot:A2A6C4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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