QPCT glutaminyl-peptide cyclotransferase [Homo sapiens (human)] - Gene

Summary

Official Symbol: QPCTprovided by HGNC
Official Full Name: glutaminyl-peptide cyclotransferaseprovided by HGNC
Primary source: HGNC:HGNC:9753
See related: Ensembl:ENSG00000115828 MIM:607065; AllianceGenome:HGNC:9753
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: QC; GCT; sQC
Summary: This gene encodes human pituitary glutaminyl cyclase, which is responsible for the presence of pyroglutamyl residues in many neuroendocrine peptides. The amino acid sequence of this enzyme is 86% identical to that of bovine glutaminyl cyclase. [provided by RefSeq, Jul 2008]
Expression: Biased expression in adrenal (RPKM 75.9), bone marrow (RPKM 17.6) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p22.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (37344630..37373322)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (37351621..37380410)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (37571773..37600465)

Chromosome 2 - NC_000002.12 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: 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?

A glutaminyl cyclase-catalyzed alpha-synuclein modification identified in human synucleinopathies.
Title: A glutaminyl cyclase-catalyzed α-synuclein modification identified in human synucleinopathies.
QPCT regulation by CTCF leads to sunitinib resistance in renal cell carcinoma by promoting angiogenesis.
Title: QPCT regulation by CTCF leads to sunitinib resistance in renal cell carcinoma by promoting angiogenesis.
A Unique Carboxylic-Acid Hydrogen-Bond Network (CAHBN) Confers Glutaminyl Cyclase Activity on M28 Family Enzymes.
Title: A Unique Carboxylic-Acid Hydrogen-Bond Network (CAHBN) Confers Glutaminyl Cyclase Activity on M28 Family Enzymes.
Hydrazides Are Potent Transition-State Analogues for Glutaminyl Cyclase Implicated in the Pathogenesis of Alzheimer's Disease.
Title: Hydrazides Are Potent Transition-State Analogues for Glutaminyl Cyclase Implicated in the Pathogenesis of Alzheimer's Disease.
The addition of QC activity to core diagnostic CSF biomarkers may be of specific interest in clinical cases with discordant imaging and biochemical biomarker results.
Title: Glutaminyl cyclase activity correlates with levels of Aβ peptides and mediators of angiogenesis in cerebrospinal fluid of Alzheimer's disease patients.
these findings demonstrate a significant association between common single nucleotide polymorphism within QPCT gene and schizophrenia risk in a Han Chinese population.
Title: Common Polymorphisms Within QPCT Gene Are Associated with the Susceptibility of Schizophrenia in a Han Chinese Population.
the genetic risk of QPCT gene for schizophrenia also exists in the Han Chinese population.
Title: Common variants in QPCT gene confer risk of schizophrenia in the Han Chinese population.
observations provide evidence for an involvement of QC in Alzheimer's disease pathogenesis and cognitive decline by QC-catalyzed pGlu-Abeta formation
Title: Glutaminyl cyclase in human cortex: correlation with (pGlu)-amyloid-β load and cognitive decline in Alzheimer's disease.
this study demonistrated that QPCT mRNAand protein from mononuclear cells correlated with theseverity of dementia.
Title: Increased glutaminyl cyclase expression in peripheral blood of Alzheimer's disease patients.
Upregulation of QPCT expression is associated with thyroid carcinomas.
Title: Role of glutaminyl cyclases in thyroid carcinomas.

Submit: New GeneRIF Correction See all GeneRIFs (25)

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

EBI GWAS Catalog

Description
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Investigation of single nucleotide polymorphisms and biological pathways associated with response to TNF&#x003b1; inhibitors in patients with rheumatoid arthritis. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Homology

Orthologs from Annotation Pipeline: 353 organisms have orthologs with human gene QPCT
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables glutaminyl-peptide cyclotransferase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables glutaminyl-peptide cyclotransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase	IDA Inferred from Direct Assay more info	PubMed
involved_in protein modification process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
located_in specific granule lumen	TAS Traceable Author Statement more info
located_in tertiary granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: glutaminyl-peptide cyclotransferase

Names: EC; glutaminyl cyclase; glutaminyl-tRNA cyclotransferase; glutamyl cyclase

NP_036545.1

EC 2.3.2.5

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.