GZMA granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) [Homo sapiens] - Gene

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Summary

Official Symbol: GZMAprovided by HGNC
Official Full Name: granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)provided by HGNC
Primary source: HGNC:4708
See related: Ensembl:ENSG00000145649; HPRD:00771; MIM:140050; Vega:OTTHUMG00000097011
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]

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Genomic context

Location :: 5q11-q12

Sequence :: Chromosome: 5; NC_000005.9 (54398474..54406080)

See GZMA in Epigenomics, MapViewer

Chromosome 5 - NC_000005.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

A critical and previously unsuspected role is revealed for granzymes A and B in dictating immunogenicity by influencing the mode of tumor cell death.
Title: A critical role for granzymes in antigen cross-presentation through regulating phagocytosis of killed tumor cells.
The results indicate that GzmA and GzmB are implicated in mechanisms of neurodegeneration in amyotrophic lateral sclerosis.
Title: Granzymes A and B levels in serum of patients with amyotrophic lateral sclerosis.
investigation of substrate specificity toward Jurkat cell proteins; more than 260 cleavage sites, almost exclusively favoring basic residues at the P1 position, in approximately 200 unique protein substrates, were identified
Title: The substrate specificity profile of human granzyme A.
Human eosinophils exert TNF-alpha and granzyme A-mediated tumoricidal activity toward colon carcinoma cells.
Title: Human eosinophils exert TNF-α and granzyme A-mediated tumoricidal activity toward colon carcinoma cells.
Granzyme A is a proinflammatory protease.
Title: Granzyme A is a proinflammatory protease.
The N-terminal GzmA cleavage fragment of PARP-1 acts as a PARP-1 dominant negative, binding to DNA and blocking DNA repair.
Title: The cytotoxic T lymphocyte protease granzyme A cleaves and inactivates poly(adenosine 5'-diphosphate-ribose) polymerase-1.
GrK not only constitutes a redundant functional backup mechanism that assists GrA-induced cell death but that it also displays a unique function by cleaving its own specific substrates.
Title: Granzyme K displays highly restricted substrate specificity that only partially overlaps with granzyme A.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Genetic susceptibility to respiratory syncytial virus bronchiolitis in preterm children is associated with airway remodeling genes and innate immune genes.
Observational study of gene-disease association. (HuGE Navigator)
Title: Interleukin-9 polymorphism in infants with respiratory syncytial virus infection: an opposite effect in boys and girls.
Data suggest that 1, 25(OH)(2) vitamin D(3) suppresses granzyme A probably by down-regulating Th1 cytokine response, and tah vitamin D receptor gene variants might regulate cytotoxic T-cell response by suppression of granzyme A expression in tuberculosis.
Title: Regulatory role of 1, 25-dihydroxyvitamin D3 and vitamin D receptor gene variants on intracellular granzyme A expression in pulmonary tuberculosis.

Submit: New GeneRIF Correction See all (21)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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HIV-1 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

Go to the HIV-1, Human Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_006135.1			BIND	PubMed	GZMA (Granzyme A) interacts with Z-K-SBzl.
NP_006135.1			BIND	PubMed	GZMA (Granzyme A) interacts with Suc-AAPR-pNA.
P12544	P27695	APEX1	HPRD	PubMed
P12544	P12544	GZMA	HPRD	PubMed
P12544	P26583	HMGB2	HPRD	PubMed
P12544	P20700	LMNB1	HPRD	PubMed
P12544	P19338	NCL	HPRD	PubMed
P12544	Q01105	SET	HPRD	PubMed
BioGRID:109256	BioGRID:109391	HMGB2	BioGRID	PubMed	Reconstituted Complex
BioGRID:109256	BioGRID:112316	SET	BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
peptidase activity	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
serine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
apoptotic process	TAS Traceable Author Statement more info	PubMed
cleavage of lamin	IDA Inferred from Direct Assay more info	PubMed
cytolysis	IEA Inferred from Electronic Annotation more info
immune response	TAS Traceable Author Statement more info	PubMed
negative regulation of DNA binding	IDA Inferred from Direct Assay more info	PubMed
negative regulation of endodeoxyribonuclease activity	IDA Inferred from Direct Assay more info	PubMed
negative regulation of oxidoreductase activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
proteolysis involved in cellular protein catabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
extracellular region	IEA Inferred from Electronic Annotation more info
immunological synapse	TAS Traceable Author Statement more info	PubMed
nucleus	TAS Traceable Author Statement more info	PubMed

General protein information

Preferred Names: granzyme A

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

NP_006135.1

EC 3.4.21.78

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NCBI Reference Sequences (RefSeq)

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_027996.1 RefSeqGene

Range

5001..12607

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006144.3 → NP_006135.1 granzyme A precursor

Status: REVIEWED

Source sequence(s)

BC015739, BP330335

Consensus CDS

CCDS3965.1

UniProtKB/Swiss-Prot

P12544

Related

ENSP00000274306, OTTHUMP00000122502, ENST00000274306, OTTHUMT00000214100

Conserved Domains (1) summary

cd00190
Location:29 – 254
Blast Score: 599

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: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000005.9 Reference GRCh37.p5 Primary Assembly

Range

54398474..54406080

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000137.1 Alternate HuRef

Range

51372038..51379264

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC091977.3 (53240..60828)	None
genomic	CH471123.1	EAW54900.1
genomic	U40006.1	AAD00009.1
mRNA	BC015739.1	AAH15739.1
mRNA	BP330335.1	None
mRNA	CR456968.1	CAG33249.1
mRNA	M18737.1	AAA52647.1
other-genetic	DQ893071.2	ABM83997.1
other-genetic	DQ896326.2	ABM87325.1