GGH gamma-glutamyl hydrolase [Homo sapiens (human)] - Gene

Summary

Official Symbol: GGHprovided by HGNC
Official Full Name: gamma-glutamyl hydrolaseprovided by HGNC
Primary source: HGNC:HGNC:4248
See related: Ensembl:ENSG00000137563 MIM:601509; AllianceGenome:HGNC:4248
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: GH; GATD10
Summary: This gene catalyzes the hydrolysis of folylpoly-gamma-glutamates and antifolylpoly-gamma-glutamates by the removal of gamma-linked polyglutamates and glutamate. [provided by RefSeq, Jul 2008]
Expression: Broad expression in kidney (RPKM 36.6), liver (RPKM 31.0) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q12.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (63015079..63038806, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (63439652..63463378, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (63927638..63951365, complement)

Chromosome 8 - NC_000008.11 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: HPA RNA-seq normal tissues 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?

Interaction between glycolysischolesterol synthesis axis and tumor microenvironment reveal that gamma-glutamyl hydrolase suppresses glycolysis in colon cancer.
Title: Interaction between glycolysis‒cholesterol synthesis axis and tumor microenvironment reveal that gamma-glutamyl hydrolase suppresses glycolysis in colon cancer.
A gamma-glutamyl hydrolase lacking the signal peptide confers susceptibility to folates/antifolates in acute lymphoblastic leukemia cells.
Title: A γ-glutamyl hydrolase lacking the signal peptide confers susceptibility to folates/antifolates in acute lymphoblastic leukemia cells.
Frequency distribution of five SNPs in human GGH gene and their effects on clinical outcomes of Chinese pediatric patients with acute lymphoblastic leukemia.
Title: Frequency distribution of five SNPs in human GGH gene and their effects on clinical outcomes of Chinese pediatric patients with acute lymphoblastic leukemia.
The role of transcription factor Sp1 in the regulation of gamma-glutamyl hydrolase gene expression by the rs3758149 polymorphism in CEM/C1 cells.
Title: The role of transcription factor Sp1 in the regulation of gamma-glutamyl hydrolase gene expression by the rs3758149 polymorphism in CEM/C1 cells.
analysis of seven polymorphisms in genes of folate transport and (de)glutamation pathway on methotrexate polyglutamate levels and response in patients with rheumatoid arthritis: ABCB1, FPGS, GGH and RFC1
Title: Do SNPs in folate pharmacokinetic pathway alter levels of intracellular methotrexate polyglutamates and affect response? A prospective study in Indian patients.
Either methylation of CpG1 or hypermethylation of CpG2 in GGH promoter region can significantly reduce GGH mRNA expression in pediatric patients with acute leukemia.
Title: Methylation level of CpG islands in GGH gene promoter in pediatric acute leukemia.
the results of our study identify GGH as an ERG subtype specific molecular marker with modest prognostic relevance, which may have clinical relevance if analyzed in combination with other molecular markers.
Title: High-Level γ-Glutamyl-Hydrolase (GGH) Expression is Linked to Poor Prognosis in ERG Negative Prostate Cancer.
These results indicate that elevated expressions of the tumor-related genes FPGS/GGH and VEGF are correlated with malignancy of thymic carcinoma and B3 thymoma tumors.
Title: Tumor-related gene expression levels in thymic carcinoma and Type B3 thymoma.
There were no other associations between single -nucleotide polymorphisms and the efficacy of MTX treatment. CONCLUSIONS: The MTHFR 677CC and GGH 401TT and CT genotypes were associated with a reduction in the number of MTX-related adverse events.
Title: Associations between single-nucleotide polymorphisms of RFC-1, GGH, MTHFR , TYMS, and TCII genes and the efficacy and toxicity of methotrexate treatment in patients with rheumatoid arthritis.
the highest expression of GGH and EGFR was noted in the left-sided colon; the highest expression of DHFR, FPGS, TOP1 and ERCC1 was noted in the rectosigmoid, whereas TYMP expression was approximately equivalent in the right-sided colon and rectum
Title: Association between mRNA expression of chemotherapy-related genes and clinicopathological features in colorectal cancer: A large-scale population analysis.

Submit: New GeneRIF Correction See all GeneRIFs (39)

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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Markers

RH102394 (e-PCR)
- UniSTS:96728

SHGC-36870 (e-PCR)
- UniSTS:68845

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables exopeptidase activity	TAS Traceable Author Statement more info	PubMed
enables gamma-glutamyl-peptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables gamma-glutamyl-peptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables omega peptidase activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in tetrahydrofolylpolyglutamate metabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in azurophil granule lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in melanosome	IEA Inferred from Electronic Annotation more info
located_in nucleus	HDA more info	PubMed
located_in specific granule lumen	TAS Traceable Author Statement more info
located_in tertiary granule lumen	TAS Traceable Author Statement more info
is_active_in vacuole	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: gamma-glutamyl hydrolase

Names: gamma-Glu-X carboxypeptidase; gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)

NP_001397855.1

EC 3.4.19.9

NP_003869.1

EC 3.4.19.9

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_028126.1 RefSeqGene

Range

5246..28973

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001410926.1 → NP_001397855.1 gamma-glutamyl hydrolase isoform 2 precursor

Status: REVIEWED

Source sequence(s)

AC120042

Consensus CDS

CCDS94298.1

UniProtKB/TrEMBL

A0A7I2V5X9

Related

ENSP00000504520.1, ENST00000518113.2
NM_003878.3 → NP_003869.1 gamma-glutamyl hydrolase isoform 1 precursor

See identical proteins and their annotated locations for NP_003869.1

Status: REVIEWED

Source sequence(s)

BC025025

Consensus CDS

CCDS6177.1

UniProtKB/Swiss-Prot

Q92820

UniProtKB/TrEMBL

A8K335

Related

ENSP00000260118.6, ENST00000260118.7

Conserved Domains (1) summary

cd01747
Location:36 → 306

GATase1_Glutamyl_Hydrolase; Type 1 glutamine amidotransferase (GATase1) domain found in gamma-Glutamyl Hydrolase