GZMK granzyme K [Homo sapiens (human)] - Gene

Summary

Official Symbol: GZMKprovided by HGNC
Official Full Name: granzyme Kprovided by HGNC
Primary source: HGNC:HGNC:4711
See related: Ensembl:ENSG00000113088 MIM:600784; AllianceGenome:HGNC:4711
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: TRYP2
Summary: This gene product is a member of a group of related serine proteases from the cytoplasmic granules of cytotoxic lymphocytes. Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here lacks consensus sequences for N-glycosylation present in other granzymes. [provided by RefSeq, Jul 2008]
Expression: Biased expression in lymph node (RPKM 65.9), spleen (RPKM 22.6) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q11.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (55024256..55034570)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (55851867..55862179)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (54320084..54330398)

Chromosome 5 - NC_000005.10 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Granzyme K mediates IL-23-dependent inflammation and keratinocyte proliferation in psoriasis.
Title: Granzyme K mediates IL-23-dependent inflammation and keratinocyte proliferation in psoriasis.
Granzyme K- and amphiregulin-expressing cytotoxic T cells and activated extrafollicular B cells are potential drivers of IgG4-related disease.
Title: Granzyme K- and amphiregulin-expressing cytotoxic T cells and activated extrafollicular B cells are potential drivers of IgG4-related disease.
High expression of angiotensin-converting enzyme 2 receptor (ACE-2), transmembrane protease serine (TMPRSS), and P-selectin in platelets lead to thrombosis formation in COVID-19 patients.
Title: High expression of angiotensin-converting enzyme 2 receptor (ACE-2), transmembrane protease serine (TMPRSS), and P-selectin in platelets lead to thrombosis formation in COVID-19 patients.
Granzyme K contributes to endothelial microvascular damage and leakage during skin inflammation.
Title: Granzyme K contributes to endothelial microvascular damage and leakage during skin inflammation.
Human Granzyme K Is a Feature of Innate T Cells in Blood, Tissues, and Tumors, Responding to Cytokines Rather than TCR Stimulation.
Title: Human Granzyme K Is a Feature of Innate T Cells in Blood, Tissues, and Tumors, Responding to Cytokines Rather than TCR Stimulation.
We here provide ex vivo evidence that CCR5highGZMK+CD4+ effector memory T cells are involved in immune surveillance during homeostasis, but could also play a role in pathology
Title: Human CCR5high effector memory cells perform CNS parenchymal immune surveillance via GZMK-mediated transendothelial diapedesis.
GzmK induced IL-6 expression in keratinocytes and skin fibroblasts that was dependent on PAR-1 activation. Re-epithelialization showed the greatest degree of improvement of all healing parameters, suggesting that keratinocytes are sensitive to GzmK-mediated proteolysis. In support, keratinocytes, but not skin fibroblasts, exposed to GzmK showed impaired wound healing in vitro
Title: Granzyme K Expressed by Classically Activated Macrophages Contributes to Inflammation and Impaired Remodeling.
Extracellular granzyme K mediates endothelial activation through the cleavage of PAR-1.
Title: Extracellular granzyme K mediates endothelial activation through the cleavage of protease-activated receptor-1.
Carbamate pesticides significantly reduced the intracellular levels of perforin, GrA, GrB, Gr3/K, and GRN in NK-92CI cells.
Title: Effect of carbamate pesticides on perforin, granzymes A-B-3/K, and granulysin in human natural killer cells.
Data indicate N-terminomics on the human and mouse granzymes A and K by combined fractional diagonal chromatography (COFRADIC).
Title: Substrate specificities of the granzyme tryptases A and K.

Submit: New GeneRIF Correction See all GeneRIFs (20)

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 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 endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables serine-type peptidase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in granzyme-mediated programmed cell death signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein maturation	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IEA Inferred from Electronic Annotation 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: granzyme K

Names: NK-Tryp-2; NK-tryptase-2; fragmentin-3; granzyme 3; granzyme K (granzyme 3; tryptase II); granzyme K (serine protease, granzyme 3; tryptase II); tryptase II

NP_002095.1

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_002104.3 → NP_002095.1 granzyme K precursor

See identical proteins and their annotated locations for NP_002095.1

Status: REVIEWED

Source sequence(s)

AC034238, BC035802

Consensus CDS

CCDS3964.1

UniProtKB/Swiss-Prot

B2R563, P49863

Related

ENSP00000231009.2, ENST00000231009.3

Conserved Domains (2) summary

smart00020
Location:26 → 254

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:27 → 257

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 ...