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QPRT quinolinate phosphoribosyltransferase [ Homo sapiens (human) ]

Gene ID: 23475, updated on 2-Nov-2024

Summary

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Official Symbol
QPRTprovided by HGNC
Official Full Name
quinolinate phosphoribosyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:9755
See related
Ensembl:ENSG00000103485 MIM:606248; AllianceGenome:HGNC:9755
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
QPRTase; HEL-S-90n
Summary
This gene encodes a key enzyme in catabolism of quinolinate, an intermediate in the tryptophan-nicotinamide adenine dinucleotide pathway. Quinolinate acts as a most potent endogenous exitotoxin to neurons. Elevation of quinolinate levels in the brain has been linked to the pathogenesis of neurodegenerative disorders such as epilepsy, Alzheimer's disease, and Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Expression
Broad expression in kidney (RPKM 60.9), liver (RPKM 33.8) and 14 other tissues See more
Orthologs
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Genomic context

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See QPRT in Genome Data Viewer
Location:
16p11.2
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (29679008..29698699)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (29947774..29980720)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (29690329..29710020)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene carbonic anhydrase 5A pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10658 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10659 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10660 Neighboring gene Sharpr-MPRA regulatory region 12377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10661 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10663 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10664 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7330 Neighboring gene Sharpr-MPRA regulatory region 12104 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10665 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29688005-29688506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29688507-29689006 Neighboring gene sialophorin Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29690545-29691046 Neighboring gene Sharpr-MPRA regulatory region 8247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29706317-29706848 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:29710774-29710948 Neighboring gene CRISPRi-validated cis-regulatory element chr16.2261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10667 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7331 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29720469-29721050 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29721051-29721632 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29723379-29723960 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29731775-29732277 Neighboring gene RN7SK pseudogene 127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10669 Neighboring gene uncharacterized LOC124903673 Neighboring gene chromosome 16 open reading frame 54

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. A comprehensive analysis of the role of QPRT in breast cancer. Yan Y, et al. Sci Rep, 2023 Sep 18. PMID 37723185, Free PMC Article
  2. Characterization and functional expression of the cDNA encoding human brain quinolinate phosphoribosyltransferase. Fukuoka S, et al. Adv Exp Med Biol, 1999. PMID 10721107
  3. QPRT: a potential marker for follicular thyroid carcinoma including minimal invasive variant; a gene expression, RNA and immunohistochemical study. Hinsch N, et al. BMC Cancer, 2009 Mar 26. PMID 19321014, Free PMC Article
  4. Activation of the kynurenine pathway and increased production of the excitotoxin quinolinic acid following traumatic brain injury in humans. Yan EB, et al. J Neuroinflammation, 2015 May 30. PMID 26025142, Free PMC Article
  5. Expression of the Kynurenine Pathway in Human Peripheral Blood Mononuclear Cells: Implications for Inflammatory and Neurodegenerative Disease. Jones SP, et al. PLoS One, 2015. PMID 26114426, Free PMC Article

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A comprehensive analysis of the role of QPRT in breast cancer.
    Title: A comprehensive analysis of the role of QPRT in breast cancer.
  2. Targeting NAD(+) Biosynthesis Overcomes Panobinostat and Bortezomib-Induced Malignant Glioma Resistance.
    Title: Targeting NAD(+) Biosynthesis Overcomes Panobinostat and Bortezomib-Induced Malignant Glioma Resistance.
  3. Silencing DSCAM-AS1 suppresses the growth and invasion of ER-positive breast cancer cells by downregulating both DCTPP1 and QPRT.
    Title: Silencing DSCAM-AS1 suppresses the growth and invasion of ER-positive breast cancer cells by downregulating both DCTPP1 and QPRT.
  4. Hepatic QPRT thus likely served as a cellular factor that dampened productive hepatitis c virus replication.
    Title: Quinolinate Phosphoribosyltransferase is an Antiviral Host Factor Against Hepatitis C Virus Infection.
  5. Our data suggest that QPRT may play an important role in the pathogenesis of autism spectrum disorders in Chr16p11.2 deletion carriers.
    Title: Loss of the Chr16p11.2 ASD candidate gene QPRT leads to aberrant neuronal differentiation in the SH-SY5Y neuronal cell model.
  6. WT1 knock-down gave a corresponding decrease in QPRT gene and protein expression. Chromatin-immunoprecipitation revealed WT1 binding to a conserved site in the first intron of the QPRT gene.
    Title: Anti-apoptotic quinolinate phosphoribosyltransferase (QPRT) is a target gene of Wilms' tumor gene 1 (WT1) protein in leukemic cells.
  7. The structural features, size distribution, heat aggregation and ITC studies of the full-length enzyme and the enzyme lacking helix alpha1 strongly suggest that human QPRT acts as a hexamer for cooperative reactant binding via three dimeric subunits and maintaining stability.
    Title: Structural Insights into the Quaternary Catalytic Mechanism of Hexameric Human Quinolinate Phosphoribosyltransferase, a Key Enzyme in de novo NAD Biosynthesis.
  8. Report of the crystal structure of human QPRT bound to its inhibitor phthalic acid (PHT) and kinetic analysis of PHT inhibition of human QPRT.
    Title: The crystal structure of human quinolinic acid phosphoribosyltransferase in complex with its inhibitor phthalic acid.
  9. QPRT is a potential new marker for the immunohistochemical screening of follicular thyroid nodules.
    Title: QPRT: a potential marker for follicular thyroid carcinoma including minimal invasive variant; a gene expression, RNA and immunohistochemical study.
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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables nicotinate-nucleotide diphosphorylase (carboxylating) activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nicotinate-nucleotide diphosphorylase (carboxylating) activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables nicotinate-nucleotide diphosphorylase (carboxylating) activity TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in NAD biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in NAD biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in NAD metabolic process TAS
Traceable Author Statement
more info
  
involved_in quinolinate catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within quinolinate catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in quinolinate catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of catalytic complex IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 

General protein information

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Preferred Names
nicotinate-nucleotide pyrophosphorylase [carboxylating]
Names
epididymis secretory sperm binding protein Li 90n
nicotinate-nucleotide pyrophosphorylase (carboxylating)
NP_001305178.1
NP_001305179.2
NP_055113.3
XP_005255280.3
XP_054235951.1
XP_054235952.1

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_001318249.1 → NP_001305178.1  nicotinate-nucleotide pyrophosphorylase [carboxylating] isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, lacks an exon in the CDS and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform 2, which is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK293195, AL563955, BC005060, BG576832, BX508036
    UniProtKB/TrEMBL
    B4DDH4
    Conserved Domains (1) summary
    cl21457
    Location:38 → 139
    TIM_phosphate_binding; TIM barrel proteins share a structurally conserved phosphate binding motif and in general share an eight beta/alpha closed barrel structure. Specific for this family is the conserved phosphate binding site at the edges of strands 7 and 8. The phosphate ...

  2. NM_001318250.2 → NP_001305179.2  nicotinate-nucleotide pyrophosphorylase [carboxylating] isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 3, which lacks an internal in-frame segment, and is shorter compared to isoform 1.
    Source sequence(s)
    AC009086, AC009133
    Consensus CDS
    CCDS81965.1
    UniProtKB/TrEMBL
    H3BP73
    Related
    ENSP00000455183.1, ENST00000562473.1
    Conserved Domains (1) summary
    cl21457
    Location:36 → 136
    TIM; TIM-like beta/alpha barrel domains

  3. NM_014298.6 → NP_055113.3  nicotinate-nucleotide pyrophosphorylase [carboxylating] isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC009086, AC009133
    Consensus CDS
    CCDS10651.1
    UniProtKB/Swiss-Prot
    Q15274, Q53XW7, Q96G22, Q9BSG6
    UniProtKB/TrEMBL
    V9HWJ5
    Related
    ENSP00000378782.4, ENST00000395384.9
    Conserved Domains (1) summary
    TIGR00078
    Location:18 → 285
    nadC; nicotinate-nucleotide pyrophosphorylase

RNA

  1. NR_134536.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains multiple differences compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AL563955, BC005060, BG576832, BJ997057, BX508036

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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    29679008..29698699
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005255223.4 → XP_005255280.3  nicotinate-nucleotide pyrophosphorylase [carboxylating] isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    29947774..29980720
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379976.1 → XP_054235951.1  nicotinate-nucleotide pyrophosphorylase [carboxylating] isoform X2

  2. XM_054379977.1 → XP_054235952.1  nicotinate-nucleotide pyrophosphorylase [carboxylating] isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q15274.3 GenPept UniProtKB/Swiss-Prot:Q15274

Gene LinkOut

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