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PRSS48 serine protease 48 [ Homo sapiens (human) ]

Gene ID: 345062, updated on 1-Oct-2022

Summary

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 active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
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
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Genomic context

See PRSS48 in Genome Data Viewer
Location:
4q31.3
Exon count:
5
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (151277161..151291862)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (154601056..154615763)
105.20220307 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 Sharpr-MPRA regulatory region 2958

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

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

General protein information

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_001353611.1NP_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
    Conserved Domains (1) summary
    cd00190
    Location:28265
    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_183375.5NP_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
    Q0VAD4
    UniProtKB/TrEMBL
    A0A140VJJ1
    Related
    ENSP00000401328.2, ENST00000455694.7
    Conserved Domains (1) summary
    cd00190
    Location:28265
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)