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    PRSS48 serine protease 48 [ Homo sapiens (human) ]

    Gene ID: 345062, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PRSS48provided by HGNC
    Official Full Name
    serine protease 48provided by HGNC
    Primary source
    HGNC:HGNC:24635
    See related
    Ensembl:ENSG00000189099 AllianceGenome:HGNC:24635
    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
    ESSPL
    Summary
    Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Nov 2024]
    Annotation information
    Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See PRSS48 in Genome Data Viewer
    Location:
    4q31.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (151277161..151291862)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (154601056..154615763)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (152198313..152213014)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene SH3 domain containing 19 Neighboring gene uncharacterized LOC105377485 Neighboring gene uncharacterized LOC124900799 Neighboring gene RNA, U6 small nuclear 1282, pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:152236121-152237320 Neighboring gene Sharpr-MPRA regulatory region 2958 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:152312507-152313010 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr4:152328899-152329598 and GRCh37_chr4:152329599-152330298 Neighboring gene FHIP1A divergent transcript

    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 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. Serine proteases. Di Cera E. IUBMB Life, 2009 May. PMID 19180666, Free PMC Article
    2. Serine protease mechanism and specificity. Hedstrom L. Chem Rev, 2002 Dec. PMID 12475199
    3. MEROPS: the peptidase database. Rawlings ND, et al. Nucleic Acids Res, 2008 Jan. PMID 17991683, Free PMC Article
    4. Human and mouse proteases: a comparative genomic approach. Puente XS, et al. Nat Rev Genet, 2003 Jul. PMID 12838346
    5. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    serine protease 48
    Names
    epidermis-specific serine protease-like protein
    protease, serine 48
    testicular tissue protein Li 65
    NP_001340540.1
    NP_899231.4

    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_001353611.1 → NP_001340540.1  serine protease 48 isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) retains a mismatch (G vs. T, rs2407221) at nt 985 compared to the reference genome sequence which results in the loss of a stop codon, compared to variant 1. The resulting isoform (2) has a longer C-terminus, compared to isoform 1.
      Source sequence(s)
      AC104819, AU311614, BC121109
      UniProtKB/TrEMBL
      A0AAG2UVS4
      Conserved Domains (1) summary
      cd00190
      Location:28 → 265
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

    2. NM_183375.5 → NP_899231.4  serine protease 48 isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the allele encoded by the reference genome (GRCh38) and encodes isoform 1.
      Source sequence(s)
      AC104819, BC121109
      Consensus CDS
      CCDS47145.1
      UniProtKB/Swiss-Prot
      Q08E82, Q0VAD4, Q7RTY5
      UniProtKB/TrEMBL
      A0A140VJJ1
      Related
      ENSP00000401328.2, ENST00000455694.7
      Conserved Domains (1) summary
      cd00190
      Location:28 → 265
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

    RNA

    1. NR_178181.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses the same exon combination as variants 1 and 2, but represents the allele encoded by the T2T-CHM13v2.0 genome assembly. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      CP068274

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      151277161..151291862
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791772.1 Reference GRCh38.p14 PATCHES

      Range
      213904..228593
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      154601056..154615763
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7RTY5.2 GenPept UniProtKB/Swiss-Prot:Q7RTY5

    Gene LinkOut

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