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    PRSS42P serine protease 42, pseudogene [ Homo sapiens (human) ]

    Gene ID: 339906, updated on 17-Jun-2024

    Summary

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    Official Symbol
    PRSS42Pprovided by HGNC
    Official Full Name
    serine protease 42, pseudogeneprovided by HGNC
    Primary source
    HGNC:HGNC:30716
    See related
    Ensembl:ENSG00000293419 AllianceGenome:HGNC:30716
    Gene type
    pseudo
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PRSS42; TESSP2
    Summary
    This gene encodes a member of a cluster of testis-specific serine proteases. The orthologous mouse gene is expressed during meiosis in pachytene spermatocytes and is required for germ cell survival. This human locus is represented as a pseudogene because it contains an early stop codon that disrupts the trypsin domain, compared to the mouse ortholog. [provided by RefSeq, Jan 2019]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See PRSS42P in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (46829542..46834095, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (46845637..46850190, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (46871032..46875585, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene serine protease 43, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46853020-46853644 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14294 Neighboring gene serine protease 44, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19799 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14295 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14296 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:46887749-46888482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46890183-46891010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46901786-46902286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46914744-46915598 Neighboring gene myosin light chain 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:46929375-46930132 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:46930133-46930890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46931649-46932404 Neighboring gene parathyroid hormone 1 receptor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14297 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46950549-46951124 Neighboring gene Sharpr-MPRA regulatory region 5172 Neighboring gene BLVRB pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Three testis-specific paralogous serine proteases play different roles in murine spermatogenesis and are involved in germ cell survival during meiosis. Yoneda R, et al. Biol Reprod, 2013 May. PMID 23536369
    2. Identification of 4370 expressed sequence tags from a 3'-end-specific cDNA library of human skeletal muscle by DNA sequencing and filter hybridization. Lanfranchi G, et al. Genome Res, 1996 Jan. PMID 8681137
    3. Human and mouse proteases: a comparative genomic approach. Puente XS, et al. Nat Rev Genet, 2003 Jul. PMID 12838346
    4. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. Yao Z, et al. Mol Cell, 2017 Jan 19. PMID 28065597, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Other Names

    • testis serine protease 2

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in side of membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    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.

    RNA

    1. NR_148409.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC109583, AK092703, F36354
      Related
      ENST00000447340.1

    2. NR_160554.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC109583

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      46829542..46834095 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      46845637..46850190 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_182702.2: Suppressed sequence

      Description
      NM_182702.2: This RefSeq was removed because currently there is insufficient support for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z5A4.1 GenPept UniProtKB/Swiss-Prot:Q7Z5A4

    Gene LinkOut

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

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