GZMA granzyme A [Homo sapiens (human)] - Gene

Summary

Official Symbol: GZMAprovided by HGNC
Official Full Name: granzyme Aprovided by HGNC
Primary source: HGNC:HGNC:4708
See related: Ensembl:ENSG00000145649 MIM:140050; AllianceGenome:HGNC:4708
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: HFSP; CTLA3
Summary: 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 is a T cell- and natural killer cell-specific serine protease that may function as a common component necessary for lysis of target cells by cytotoxic T lymphocytes and natural killer cells. [provided by RefSeq, Jul 2008]
Expression: Broad expression in lymph node (RPKM 24.9), spleen (RPKM 21.4) and 20 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 (55102646..55110252)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (55930246..55937579)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (54398474..54406080)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Homodimeric Granzyme A Opsonizes Mycobacterium tuberculosis and Inhibits Its Intracellular Growth in Human Monocytes via Toll-Like Receptor 4 and CD14.
Title: Homodimeric Granzyme A Opsonizes Mycobacterium tuberculosis and Inhibits Its Intracellular Growth in Human Monocytes via Toll-Like Receptor 4 and CD14.
Heterogeneity induced GZMA-F2R communication inefficient impairs antitumor immunotherapy of PD-1 mAb through JAK2/STAT1 signal suppression in hepatocellular carcinoma.
Title: Heterogeneity induced GZMA-F2R communication inefficient impairs antitumor immunotherapy of PD-1 mAb through JAK2/STAT1 signal suppression in hepatocellular carcinoma.
Elevated Extracellular Levels of Granzymes in Patients with Scrub Typhus.
Title: Elevated Extracellular Levels of Granzymes in Patients with Scrub Typhus.
Granzyme A Produced by gamma9delta2 T Cells Activates ER Stress Responses and ATP Production, and Protects Against Intracellular Mycobacterial Replication Independent of Enzymatic Activity.
Title: Granzyme A Produced by γ(9)δ(2) T Cells Activates ER Stress Responses and ATP Production, and Protects Against Intracellular Mycobacterial Replication Independent of Enzymatic Activity.
Lighting a Fire: Can We Harness Pyroptosis to Ignite Antitumor Immunity?
Title: Lighting a Fire: Can We Harness Pyroptosis to Ignite Antitumor Immunity?
Novel tumour suppressor roles for GZMA and RASGRP1 in Theileria annulata-transformed macrophages and human B lymphoma cells.
Title: Novel tumour suppressor roles for GZMA and RASGRP1 in Theileria annulata-transformed macrophages and human B lymphoma cells.
Extracellular Granzyme A Promotes Colorectal Cancer Development by Enhancing Gut Inflammation.
Title: Extracellular Granzyme A Promotes Colorectal Cancer Development by Enhancing Gut Inflammation.
Granzyme A in Chikungunya and Other Arboviral Infections.
Title: Granzyme A in Chikungunya and Other Arboviral Infections.
COVID-19 pneumonia: CD8(+) T and NK cells are decreased in number but compensatory increased in cytotoxic potential.
Title: COVID-19 pneumonia: CD8(+) T and NK cells are decreased in number but compensatory increased in cytotoxic potential.
this study demonstrated that GZMA from cytotoxic lymphocytes cleaves and activates GSDMB to induce target cell pyroptosis.
Title: Granzyme A from cytotoxic lymphocytes cleaves GSDMB to trigger pyroptosis in target cells.

Submit: New GeneRIF Correction See all GeneRIFs (48)

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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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	Downregulation of cell-surface CD4 induced by HIV-1 Nef prevents monoclonal antibodies against CD4 from blocking the presentation of serine esterase tryptase in human monocytoid and CD4+ lymphoid 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

SHGC-81572 (e-PCR)
- UniSTS:103534

RH119852 (e-PCR)
- UniSTS:133597

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay 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

Process	Evidence Code	Pubs
involved_in apoptotic process	TAS Traceable Author Statement more info	PubMed
involved_in cytotoxic T cell pyroptotic cell death	IDA Inferred from Direct Assay more info	PubMed
involved_in granzyme-mediated programmed cell death signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in granzyme-mediated programmed cell death signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in immune response	TAS Traceable Author Statement more info	PubMed
involved_in killing of cells of another organism	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA binding	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of endodeoxyribonuclease activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of oxidoreductase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein maturation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein maturation	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis involved in protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in pyroptotic inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in response to bacterium	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in immunological synapse	TAS Traceable Author Statement more info	PubMed
located_in nucleus	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: granzyme A

Names: CTL tryptase; Cytotoxic T-lymphocyte-associated serine esterase-3; Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease); HF; Hanukah factor serine protease); cytotoxic T-lymphocyte proteinase 1; fragmentin-1; granzyme 1; granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3); h factor

NP_006135.2

EC 3.4.21.78

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.

Genomic

NG_027996.2 RefSeqGene

Range

5002..12608

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006144.4 → NP_006135.2 granzyme A precursor

Status: REVIEWED

Source sequence(s)

AC091977

Consensus CDS

CCDS3965.1

UniProtKB/Swiss-Prot

A4PHN1, P12544, Q6IB36

Related

ENSP00000274306.6, ENST00000274306.7

Conserved Domains (1) summary

cd00190
Location:29 → 254

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 ...