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    QPCTL glutaminyl-peptide cyclotransferase like [ Homo sapiens (human) ]

    Gene ID: 54814, updated on 3-Nov-2024

    Summary

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    Official Symbol
    QPCTLprovided by HGNC
    Official Full Name
    glutaminyl-peptide cyclotransferase likeprovided by HGNC
    Primary source
    HGNC:HGNC:25952
    See related
    Ensembl:ENSG00000011478 AllianceGenome:HGNC:25952
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    gQC
    Summary
    Enables glutaminyl-peptide cyclotransferase activity and zinc ion binding activity. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 3.4), prostate (RPKM 3.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See QPCTL in Genome Data Viewer
    Location:
    19q13.32
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45692666..45703987)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (48520206..48531526)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (46195924..46207245)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10790 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10791 Neighboring gene gastric inhibitory polypeptide receptor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14811 Neighboring gene microRNA 642a Neighboring gene microRNA 642b Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10792 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46194747-46195467 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:46196081-46196631 Neighboring gene small nuclear ribonucleoprotein D2 polypeptide Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14814 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46220214-46220884 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46220885-46221555 Neighboring gene F-box protein 46 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:46223908-46224408 Neighboring gene Sharpr-MPRA regulatory regions 3721 and 14243 Neighboring gene Sharpr-MPRA regulatory region 6016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14816 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14817 Neighboring gene meiosis initiator Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46250835-46251627 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46266800-46267354

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Deciphering the role of QPCTL in glioma progression and cancer immunotherapy. Liu Y, et al. Front Immunol, 2023. PMID 37063864, Free PMC Article
    2. Glutaminyl cyclase is an enzymatic modifier of the CD47- SIRPα axis and a target for cancer immunotherapy. Logtenberg MEW, et al. Nat Med, 2019 Apr. PMID 30833751, Free PMC Article
    3. Association studies of novel obesity-related gene variants with quantitative metabolic phenotypes in a population-based sample of 6,039 Danish individuals. Burgdorf KS, et al. Diabetologia, 2012 Jan. PMID 21953277
    4. Isolation of an isoenzyme of human glutaminyl cyclase: retention in the Golgi complex suggests involvement in the protein maturation machinery. Cynis H, et al. J Mol Biol, 2008 Jun 20. PMID 18486145
    5. Structures of human Golgi-resident glutaminyl cyclase and its complexes with inhibitors reveal a large loop movement upon inhibitor binding. Huang KF, et al. J Biol Chem, 2011 Apr 8. PMID 21288892, Free PMC Article

    See all (84) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deciphering the role of QPCTL in glioma progression and cancer immunotherapy.
      Title: Deciphering the role of QPCTL in glioma progression and cancer immunotherapy.
    2. Senescent cells suppress macrophage-mediated corpse removal via upregulation of the CD47-QPCT/L axis.
      Title: Senescent cells suppress macrophage-mediated corpse removal via upregulation of the CD47-QPCT/L axis.
    3. QPCTL is critical for pyroglutamate formation on CD47 at the SIRPalpha binding site shortly after biosynthesis.
      Title: Glutaminyl cyclase is an enzymatic modifier of the CD47- SIRPα axis and a target for cancer immunotherapy.
    4. genetic association studies in Danish population: Quantitative metabolic phenotypes in obesity are associated with SNP in various genes: QPCTL (rs2287019) is associated with body mass index and increased insulinogenic index.
      Title: Association studies of novel obesity-related gene variants with quantitative metabolic phenotypes in a population-based sample of 6,039 Danish individuals.
    Submit: New GeneRIF Correction

    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
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    EBI GWAS Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Meta-analysis identifies common variants associated with body mass index in east Asians.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with QPCTL; predicted interaction to be within the Golgi PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20084

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glutaminyl-peptide cyclotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    glutaminyl-peptide cyclotransferase-like protein
    Names
    glutaminyl cyclase-like
    golgi-resident glutaminyl-peptide cyclotransferase
    isoQC
    NP_001156849.1
    NP_060129.2
    XP_011525350.1
    XP_016882389.1
    XP_047294953.1
    XP_054177283.1
    XP_054177284.1
    XP_054177285.1

    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.

    mRNA and Protein(s)

    1. NM_001163377.2 → NP_001156849.1  glutaminyl-peptide cyclotransferase-like protein isoform 2

      See identical proteins and their annotated locations for NP_001156849.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AC007191, AK222636, BC011553, BP216511
      Consensus CDS
      CCDS54282.1
      UniProtKB/Swiss-Prot
      Q9NXS2
      Related
      ENSP00000387944.2, ENST00000366382.8
      Conserved Domains (1) summary
      cl14876
      Location:116 → 285
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

    2. NM_017659.4 → NP_060129.2  glutaminyl-peptide cyclotransferase-like protein isoform 1

      See identical proteins and their annotated locations for NP_060129.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC007191, AK000091, AK222636, BC011553, BP216511
      Consensus CDS
      CCDS12672.1
      UniProtKB/Swiss-Prot
      Q53HE4, Q96F74, Q9NXS2
      Related
      ENSP00000012049.4, ENST00000012049.10
      Conserved Domains (1) summary
      cd03880
      Location:79 → 379
      M28_QC_like; M28 Zn-Peptidase Glutaminyl Cyclase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      45692666..45703987
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438997.1 → XP_047294953.1  glutaminyl-peptide cyclotransferase-like protein isoform X1

      UniProtKB/TrEMBL
      A0A7I2V5X1
      Related
      ENSP00000504501.1, ENST00000678862.1

    2. XM_017026900.2 → XP_016882389.1  glutaminyl-peptide cyclotransferase-like protein isoform X2

    3. XM_011527048.4 → XP_011525350.1  glutaminyl-peptide cyclotransferase-like protein isoform X3

      Conserved Domains (1) summary
      cl14876
      Location:79 → 191
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      48520206..48531526
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321308.1 → XP_054177283.1  glutaminyl-peptide cyclotransferase-like protein isoform X1

      UniProtKB/TrEMBL
      A0A7I2V5X1

    2. XM_054321309.1 → XP_054177284.1  glutaminyl-peptide cyclotransferase-like protein isoform X2

    3. XM_054321310.1 → XP_054177285.1  glutaminyl-peptide cyclotransferase-like protein isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NXS2.2 GenPept UniProtKB/Swiss-Prot:Q9NXS2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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