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PRSS48 serine protease 48 [ Homo sapiens (human) ]

Gene ID: 345062, updated on 12-Jun-2021

Summary

Official Symbol
PRSS48provided by HGNC
Official Full Name
serine protease 48provided by HGNC
Primary source
HGNC:HGNC:24635
See related
Ensembl:ENSG00000189099
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
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
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (151276482..151291862)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (152198325..152213014)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986196 Neighboring gene Sharpr-MPRA regulatory region 3738 Neighboring gene SH3 domain containing 19 Neighboring gene uncharacterized LOC105377485 Neighboring gene RNA, U6 small nuclear 1282, pseudogene Neighboring gene FHIP1A divergent transcript Neighboring gene FHF complex subunit HOOK interacting protein 1A

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
XP_011530223.1
XP_011530224.1

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
    Related
    ENSP00000401328.2, ENST00000455694.6
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    151276482..151291862
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531922.2XP_011530224.1  serine protease 48 isoform X2

    UniProtKB/Swiss-Prot
    Q7RTY5
    Related
    ENSP00000401420.2, ENST00000441586.2
    Conserved Domains (1) summary
    cl21584
    Location:25122
    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. XM_011531921.3XP_011530223.1  serine protease 48 isoform X1

    Conserved Domains (2) summary
    smart00020
    Location:50285
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:51288
    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 ...
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