PRSS21 serine protease 21 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRSS21provided by HGNC
Official Full Name: serine protease 21provided by HGNC
Primary source: HGNC:HGNC:9485
See related: Ensembl:ENSG00000007038 MIM:608159; AllianceGenome:HGNC:9485
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ESP1; ESP-1; TEST1; TESTISIN
Summary: This gene encodes a cell-surface anchored serine protease, which is a member of the trypsin family of serine proteases. The encoded protein is predicted to be active on peptide linkages involving the carboxyl group of lysine or arginine. The encoded protein localizes to the cytoplasm and the plasma membrane of premeiotic testicular germ cells and may be involved in progression of testicular tumors of germ cell origin. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
Expression: Biased expression in testis (RPKM 26.0), bone marrow (RPKM 4.4) and 4 other tissues See more
Orthologs: all
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Genomic context

Location:: 16p13.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (2817237..2821719)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (2837810..2842292)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (2867238..2871720)

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?

Testisin activates PAR-2, inducing PAR-2 loss from the cell surface, internalization, and cellular signaling.
Title: Proteolytic activation of the protease-activated receptor (PAR)-2 by the glycosylphosphatidylinositol-anchored serine protease testisin.
Testisin may promote carcinogenesis by inhibiting tumor suppressor activity of maspin.
Title: Interaction of testisin with maspin and its impact on invasion and cell death resistance of cervical cancer cells.
These data suggest that aberrant regulation of PRSS21 may underlie certain secondary male infertility syndromes, such as "easily decapitated" spermatozoa in humans.
Title: The glycosylphosphatidylinositol-anchored serine protease PRSS21 (testisin) imparts murine epididymal sperm cell maturation and fertilizing ability.
The results demonstrate for the first time that aberrant methylation of specific CpG sites near the transcription initiation site is an important factor in testisin gene silencing in TGCT.
Title: Epigenetic silencing of the putative tumor suppressor gene testisin in testicular germ cell tumors.
Loss of Testisin is caused, at least in part, by DNA hypermethylation and histone deacetylation, and suggest a tumour suppressor role for Testisin in testicular tumorigenesis.
Title: Hypermethylation of the 5' CpG island of the gene encoding the serine protease Testisin promotes its loss in testicular tumorigenesis.

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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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of PRSS21	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
capsid	gag	Depletion of the PRSS21 expression upregulates HIV-1 CA A92E mutant infectivity in CsA-untreated HeLa cells and downregulates its infectivity in CsA-treated HeLa cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66608 (e-PCR)
- UniSTS:79361

UniSTS:482327 (e-PCR)
- UniSTS:482327

NoName (e-PCR)
- UniSTS:486439

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
enables serine-type peptidase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in spermatogenesis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in side of membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: testisin

Names: eosinophil serine protease 1; protease, serine 21; serine protease from eosinophils

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_001270452.2 → NP_001257381.1 testisin isoform 4 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses two alternate splice sites in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AA860356, AB031331, BI827608, BX454526

UniProtKB/TrEMBL

I3L0U2

Related

ENSP00000458341.1, ENST00000574813.5

Conserved Domains (2) summary

smart00020
Location:41 → 194

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:42 → 184

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_006799.4 → NP_006790.1 testisin isoform 1 preproprotein

See identical proteins and their annotated locations for NP_006790.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AB031331, AF058300

Consensus CDS

CCDS10478.1

UniProtKB/Swiss-Prot

Q9NS34, Q9P2V6, Q9Y6M0

UniProtKB/TrEMBL

I3L3C7

Related

ENSP00000005995.3, ENST00000005995.8

Conserved Domains (1) summary

cd00190
Location:42 → 283

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_144956.3 → NP_659205.1 testisin isoform 2 preproprotein

See identical proteins and their annotated locations for NP_659205.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AA860356, AB031331, BI334059, BX454526

UniProtKB/TrEMBL

I3L3C7

Related

ENSP00000460351.1, ENST00000574265.1

Conserved Domains (2) summary

smart00020
Location:41 → 279

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:42 → 281

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_144957.3 → NP_659206.1 testisin isoform 3 preproprotein

See identical proteins and their annotated locations for NP_659206.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

AA860356, AB031331, BX454526, CB529999

Consensus CDS

CCDS45388.1

UniProtKB/TrEMBL

I3L3C7

Related

ENSP00000407741.3, ENST00000450020.7

Conserved Domains (2) summary

smart00020
Location:41 → 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 ...

RNA

NR_073012.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses two alternate splice sites, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AA860356, AB031331, BG717268, BX454526