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QPRT quinolinate phosphoribosyltransferase [ Homo sapiens (human) ]

Gene ID: 23475, updated on 5-Aug-2018

Summary

Official Symbol
QPRTprovided by HGNC
Official Full Name
quinolinate phosphoribosyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:9755
See related
Ensembl:ENSG00000103485 MIM:606248; Vega:OTTHUMG00000097770
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

Genomic context

See QPRT in Genome Data Viewer
Location:
16p11.2
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (29670588..29698699)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (29690334..29709324)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene SMG1 pseudogene 2 Neighboring gene solute carrier family 7 member 5 pseudogene 1 Neighboring gene carbonic anhydrase 5A pseudogene 1 Neighboring gene sialophorin Neighboring gene RNA, 7SK small nuclear pseudogene 127 Neighboring gene chromosome 16 open reading frame 54

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
NAD biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NAD biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
NAD metabolic process TAS
Traceable Author Statement
more info
 
protein complex oligomerization IDA
Inferred from Direct Assay
more info
PubMed 
quinolinate catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
quinolinate catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 

General protein information

Preferred Names
nicotinate-nucleotide pyrophosphorylase [carboxylating]
Names
epididymis secretory sperm binding protein Li 90n
nicotinate-nucleotide pyrophosphorylase (carboxylating)
NP_001305178.1
NP_001305179.1
NP_055113.2
XP_005255280.2
XP_016878590.1

NCBI Reference Sequences (RefSeq)

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_001318249.1NP_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/Swiss-Prot
    Q15274
    UniProtKB/TrEMBL
    B4DDH4
    Conserved Domains (1) summary
    cl21457
    Location:38139
    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_001318250.1NP_001305179.1  nicotinate-nucleotide pyrophosphorylase [carboxylating] isoform 3 precursor

    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)
    AK293195, AL563955, BC005060, BG576832, BP314322, BX508036
    Consensus CDS
    CCDS81965.1
    UniProtKB/Swiss-Prot
    Q15274
    UniProtKB/TrEMBL
    B4DDH4
    Related
    ENSP00000455183.1, OTTHUMP00000255066, ENST00000562473.1, OTTHUMT00000433678
    Conserved Domains (1) summary
    cl21457
    Location:36136
    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 ...
  3. NM_014298.4NP_055113.2  nicotinate-nucleotide pyrophosphorylase [carboxylating] isoform 1 precursor

    See identical proteins and their annotated locations for NP_055113.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK293195, AL563955, BC010033, BG576832, BX508036
    Consensus CDS
    CCDS10651.1
    UniProtKB/Swiss-Prot
    Q15274
    UniProtKB/TrEMBL
    B4DDH4, V9HWJ5
    Related
    ENSP00000378782.4, OTTHUMP00000123405, ENST00000395384.8, OTTHUMT00000215011
    Conserved Domains (2) summary
    cd01572
    Location:17284
    QPRTase; Quinolinate phosphoribosyl transferase (QAPRTase or QPRTase), also called nicotinate-nucleotide pyrophosphorylase, is involved in the de novo synthesis of NAD in both prokaryotes and eukaryotes. It catalyses the reaction of quinolinic acid (QA) with ...
    TIGR00078
    Location:18285
    nadC; nicotinate-nucleotide pyrophosphorylase

RNA

  1. NR_134536.1 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)
    AK293195, AL563955, BC005060, BG576832, BJ997057, BX508036

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    29670588..29698699
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005255223.3XP_005255280.2  nicotinate-nucleotide pyrophosphorylase [carboxylating] isoform X1

    Conserved Domains (2) summary
    cd01572
    Location:99367
    QPRTase; Quinolinate phosphoribosyl transferase (QAPRTase or QPRTase), also called nicotinate-nucleotide pyrophosphorylase, is involved in the de novo synthesis of NAD in both prokaryotes and eukaryotes. It catalyses the reaction of quinolinic acid (QA) with ...
    TIGR00078
    Location:100368
    nadC; nicotinate-nucleotide pyrophosphorylase
  2. XM_017023101.1XP_016878590.1  nicotinate-nucleotide pyrophosphorylase [carboxylating] isoform X2

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