PRSS48 serine protease 48 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 4q31.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (151277161..151291862)
RS_2023_10	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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

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 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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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 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

EC 3.4.21.-

NP_899231.4

EC 3.4.21.-

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)

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

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 ...
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

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