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    QPRT quinolinate phosphoribosyltransferase [ Homo sapiens (human) ]

    Gene ID: 23475, updated on 6-Jun-2024

    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
    NEW
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    Genomic context

    See QPRT in Genome Data Viewer
    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_000016.10Genomic 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

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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

    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)

    NEW Try the new Transcript table

    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/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_001318250.2NP_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:36136
      TIM; TIM-like beta/alpha barrel domains
    3. NM_014298.6NP_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:18285
      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_2023_10

    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_005255223.4XP_005255280.3  nicotinate-nucleotide pyrophosphorylase [carboxylating] isoform X1

      UniProtKB/TrEMBL
      V9HWJ5

    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_054379976.1XP_054235951.1  nicotinate-nucleotide pyrophosphorylase [carboxylating] isoform X2

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