QPRT quinolinate phosphoribosyltransferase [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

Location:: 16p11.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (29679008..29698699)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (29947774..29980720)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (29690329..29710020)

Chromosome 16 - NC_000016.10 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 comprehensive analysis of the role of QPRT in breast cancer.
Title: A comprehensive analysis of the role of QPRT in breast cancer.
Targeting NAD(+) Biosynthesis Overcomes Panobinostat and Bortezomib-Induced Malignant Glioma Resistance.
Title: Targeting NAD(+) Biosynthesis Overcomes Panobinostat and Bortezomib-Induced Malignant Glioma Resistance.
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.
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.
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.
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.
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.
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.
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.

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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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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 more info	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

EC 2.4.2.19

NP_001305179.2

EC 2.4.2.19

NP_055113.3

EC 2.4.2.19

XP_005255280.3

EC 2.4.2.19

XP_054235951.1

EC 2.4.2.19

XP_054235952.1

EC 2.4.2.19

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)

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 ...
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
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

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

29679008..29698699

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

29947774..29980720

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054379976.1 → XP_054235951.1 nicotinate-nucleotide pyrophosphorylase [carboxylating] isoform X2
XM_054379977.1 → XP_054235952.1 nicotinate-nucleotide pyrophosphorylase [carboxylating] isoform X3