PRSS53 serine protease 53 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRSS53provided by HGNC
Official Full Name: serine protease 53provided by HGNC
Primary source: HGNC:HGNC:34407
See related: Ensembl:ENSG00000151006 MIM:610561; AllianceGenome:HGNC:34407
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: POL3S; UNQ308
Summary: Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in skin (RPKM 1.8), spleen (RPKM 1.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p11.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (31083437..31088943, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (31470865..31476371, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (31094758..31100264, complement)

Chromosome 16 - NC_000016.10 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?

Comparative analysis of polyserase-3 with the two human polyserases described to date, revealed that this novel polyprotein is more closely related to polyserase-2 than to polyserase-1.
Title: Identification and characterization of human polyserase-3, a novel protein with tandem serine-protease domains in the same polypeptide chain.

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

EBI GWAS Catalog

Description
Genome-wide association analysis identifies three psoriasis susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Markers

D16S2660 (e-PCR)
- UniSTS:152397

D16S2666 (e-PCR)
- UniSTS:152414

RH91770 (e-PCR)
- UniSTS:85372

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	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: serine protease 53

Names: EDTP308; polyserase-3; polyserine protease 3; protease, serine 53

NP_001034592.1

EC 3.4.21.-

XP_011544118.1

EC 3.4.21.-

XP_011544119.1

EC 3.4.21.-

XP_011544120.1

EC 3.4.21.-

XP_011544121.1

EC 3.4.21.-

XP_011544122.1

EC 3.4.21.-

XP_054236185.1

EC 3.4.21.-

XP_054236186.1

EC 3.4.21.-

XP_054236187.1

EC 3.4.21.-

XP_054236188.1

EC 3.4.21.-

XP_054236189.1

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_001039503.3 → NP_001034592.1 serine protease 53 precursor

See identical proteins and their annotated locations for NP_001034592.1

Status: VALIDATED

Source sequence(s)

AC135050

Consensus CDS

CCDS42153.1

UniProtKB/Swiss-Prot

Q2L4Q9

Related

ENSP00000280606.6, ENST00000280606.7

Conserved Domains (2) summary

smart00020
Location:43 → 267

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:42 → 269

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: 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

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

31083437..31088943 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011545819.3 → XP_011544121.1 serine protease 53 isoform X4

Conserved Domains (3) summary

smart00020
Location:43 → 267

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:42 → 269

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 ...

cl21584
Location:312 → 465

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 ...
XM_011545820.3 → XP_011544122.1 serine protease 53 isoform X5

Conserved Domains (2) summary

smart00020
Location:43 → 267

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:42 → 269

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 ...
XM_011545816.3 → XP_011544118.1 serine protease 53 isoform X1

Conserved Domains (3) summary

smart00020
Location:43 → 314

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:42 → 316

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 ...

cl21584
Location:359 → 512

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 ...
XM_011545818.4 → XP_011544120.1 serine protease 53 isoform X3

Conserved Domains (2) summary

smart00020
Location:43 → 314

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:42 → 316

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 ...
XM_011545817.3 → XP_011544119.1 serine protease 53 isoform X2

Conserved Domains (2) summary

smart00020
Location:43 → 314

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:42 → 316

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 ...