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    SPPL2C signal peptide peptidase like 2C [ Homo sapiens (human) ]

    Gene ID: 162540, updated on 10-Dec-2024

    Summary

    Official Symbol
    SPPL2Cprovided by HGNC
    Official Full Name
    signal peptide peptidase like 2Cprovided by HGNC
    Primary source
    HGNC:HGNC:28902
    See related
    Ensembl:ENSG00000185294 MIM:608284; AllianceGenome:HGNC:28902
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IMP5
    Summary
    Enables protein homodimerization activity. Predicted to be involved in several processes, including acrosome assembly; fusion of sperm to egg plasma membrane involved in single fertilization; and sperm-egg recognition. Located in cytoplasmic side of endoplasmic reticulum membrane and lumenal side of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
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    Genomic context

    See SPPL2C in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (45844881..45847067)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (46706505..46708691)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (43922247..43924433)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene LINC02210-CRHR1 readthrough Neighboring gene uncharacterized LOC107985028 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:43822876-43823542 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:43823543-43824208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43828999-43829910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43835142-43835642 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43840160-43840660 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:43848965-43849573 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43862413-43862913 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43869433-43869933 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43883739-43884240 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43884241-43884740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43890849-43891705 Neighboring gene corticotropin releasing hormone receptor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43900915-43901416 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:43917814-43918023 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43922169-43923153 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43923154-43924137 Neighboring gene MAPT antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43971863-43972748 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43972749-43973634 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43974521-43975405 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43983393-43983892 Neighboring gene MAPT intronic transcript 1 Neighboring gene uncharacterized LOC105371800 Neighboring gene microtubule associated protein tau

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (19 hits/1247 screens)

    EBI GWAS Catalog

    Description
    Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.
    EBI GWAS Catalog
    Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
    EBI GWAS Catalog
    Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
    EBI GWAS Catalog

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in acrosome assembly  
    involved_in fusion of sperm to egg plasma membrane involved in single fertilization  
    involved_in intracellular calcium ion homeostasis  
    NOT involved_in membrane protein ectodomain proteolysis PubMed 
    NOT involved_in membrane protein intracellular domain proteolysis PubMed 
    involved_in membrane protein proteolysis  
    involved_in protein stabilization  
    involved_in sperm-egg recognition  
    Component Evidence Code Pubs
    is_active_in Golgi-associated vesicle membrane  
    is_active_in cytoplasmic side of endoplasmic reticulum membrane  
    located_in cytoplasmic side of endoplasmic reticulum membrane PubMed 
    located_in endoplasmic reticulum membrane PubMed 
    is_active_in lumenal side of endoplasmic reticulum membrane  
    located_in lumenal side of endoplasmic reticulum membrane PubMed 
    is_active_in lysosomal membrane  

    General protein information

    Preferred Names
    signal peptide peptidase-like 2C
    Names
    IMP-5
    SPP-like 2C
    intramembrane protease 5

    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_175882.3NP_787078.2  signal peptide peptidase-like 2C precursor

      See identical proteins and their annotated locations for NP_787078.2

      Status: VALIDATED

      Source sequence(s)
      AC217771
      Consensus CDS
      CCDS32673.1
      UniProtKB/Swiss-Prot
      Q8IUH8, Q8TC67, Q8WVZ6
      UniProtKB/TrEMBL
      A0A0G2JPF3
      Related
      ENSP00000332488.5, ENST00000329196.7
      Conserved Domains (2) summary
      smart00730
      Location:247519
      PSN; Presenilin, signal peptide peptidase, family
      cd02129
      Location:38175
      PA_hSPPL_like; PA_hSPPL_like: Protease-associated domain containing human signal peptide peptidase-like (hSPPL)-like. This group contains various PA domain-containing proteins similar to hSPPL2a and 2b. These SPPLs are GxGD aspartic proteases. SPPL2a is sorted to the ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      45844881..45847067
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_167251.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      941114..943300 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187663.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      547002..549188
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      46706505..46708691
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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