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GZMH granzyme H [ Homo sapiens (human) ]

Gene ID: 2999, updated on 18-Aug-2020

Summary

Official Symbol
GZMHprovided by HGNC
Official Full Name
granzyme Hprovided by HGNC
Primary source
HGNC:HGNC:4710
See related
Ensembl:ENSG00000100450 MIM:116831
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
CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2
Summary
This gene encodes a member of the peptidase S1 family of serine proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a chymotrypsin-like protease. This protein is reported to be constitutively expressed in the NK (natural killer) cells of the immune system and may play a role in the cytotoxic arm of the innate immune response by inducing target cell death and by directly cleaving substrates in pathogen-infected cells. This gene is present in a gene cluster with another member of the granzyme subfamily on chromosome 14. [provided by RefSeq, Nov 2015]
Expression
Broad expression in spleen (RPKM 9.5), bone marrow (RPKM 8.3) and 21 other tissues See more
Orthologs

Genomic context

See GZMH in Genome Data Viewer
Location:
14q12
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (24606480..24609763, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (25075686..25078926, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene chymase 1 Neighboring gene cathepsin G Neighboring gene uncharacterized LOC107984667 Neighboring gene uncharacterized LOC105370413 Neighboring gene granzyme B

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
serine-type endopeptidase activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
cytolysis IEA
Inferred from Electronic Annotation
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane HDA PubMed 

General protein information

Preferred Names
granzyme H
Names
cathepsin G-like 2, protein h-CCPX
cytotoxic T-lymphocyte proteinase
cytotoxic T-lymphocyte-associated serine esterase 1
cytotoxin serine protease-C

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.

mRNA and Protein(s)

  1. NM_001270780.2NP_001257709.1  granzyme H isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region compared to variant 1. It encodes isoform 2 which is shorter than isoform 1. This isoform (2) may undergo proteolytic processing similar to isoform 1.
    Source sequence(s)
    AW204493, BQ054303, CD000418
    Conserved Domains (2) summary
    smart00020
    Location:20175
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:21178
    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 ...
  2. NM_001270781.2NP_001257710.1  granzyme H isoform 3 precursor

    See identical proteins and their annotated locations for NP_001257710.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the coding region compared to variant 1. It encodes isoform 3 which is shorter than isoform 1. This isoform (3) may undergo proteolytic processing similar to isoform 1.
    Source sequence(s)
    AW204493, AY232657
    Consensus CDS
    CCDS59243.1
    UniProtKB/Swiss-Prot
    P20718
    Related
    ENSP00000371988.4, ENST00000382548.4
    Conserved Domains (2) summary
    smart00020
    Location:20153
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:21156
    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 ...
  3. NM_033423.5NP_219491.1  granzyme H isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_219491.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AW204493, BC027974, BQ054303
    Consensus CDS
    CCDS9632.1
    UniProtKB/Swiss-Prot
    P20718
    Related
    ENSP00000216338.4, ENST00000216338.9
    Conserved Domains (1) summary
    cd00190
    Location:21242
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    24606480..24609763 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536683.2XP_011534985.1  granzyme H isoform X1

    Conserved Domains (2) summary
    smart00020
    Location:1205
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:1208
    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 ...
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