Format

Send to:

Choose Destination

NAPRT nicotinate phosphoribosyltransferase [ Homo sapiens (human) ]

Gene ID: 93100, updated on 1-Jun-2020

Summary

Official Symbol
NAPRTprovided by HGNC
Official Full Name
nicotinate phosphoribosyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:30450
See related
Ensembl:ENSG00000147813 MIM:611552
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
NAPRT1; PP3856
Summary
Nicotinic acid (NA; niacin) is converted by nicotinic acid phosphoribosyltransferase (NAPRT; EC 2.4.2.11) to NA mononucleotide (NaMN), which is then converted to NA adenine dinucleotide (NaAD), and finally to nicotinamide adenine dinucleotide (NAD), which serves as a coenzyme in cellular redox reactions and is an essential component of a variety of processes in cellular metabolism including response to stress (Hara et al., 2007).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in duodenum (RPKM 19.1), small intestine (RPKM 16.7) and 25 other tissues See more
Orthologs

Genomic context

See NAPRT in Genome Data Viewer
Location:
8q24.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (143574585..143578349, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (144656955..144660881, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100310756 Neighboring gene gasdermin D Neighboring gene maestro heat like repeat family member 6 Neighboring gene eukaryotic translation elongation factor 1 delta Neighboring gene tigger transposable element derived 5 Neighboring gene pyrroline-5-carboxylate reductase 3

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?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
nicotinate phosphoribosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nicotinate phosphoribosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
nicotinate-nucleotide diphosphorylase (carboxylating) activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
NAD biosynthesis via nicotinamide riboside salvage pathway TAS
Traceable Author Statement
more info
 
NAD biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NAD salvage IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
response to oxidative stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
azurophil granule lumen TAS
Traceable Author Statement
more info
 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
nicotinate phosphoribosyltransferase
Names
FHA-HIT-interacting protein
NAPRTase
nicotinate phosphoribosyltransferase domain containing 1
nicotinate phosphoribosyltransferase domain-containing protein 1
nicotinic acid phosphoribosyltransferase
NP_001273758.1
NP_001350074.1
NP_001350075.1
NP_660202.3
XP_016869464.1
XP_016869465.1
XP_016869466.1
XP_016869467.1
XP_016869468.1
XP_024303100.1
XP_024303101.1

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_001286829.2NP_001273758.1  nicotinate phosphoribosyltransferase isoform 2

    See identical proteins and their annotated locations for NP_001273758.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AB242230, AC067930, AY214327
    Consensus CDS
    CCDS69555.1
    UniProtKB/Swiss-Prot
    Q6XQN6
    Related
    ENSP00000390949.3, ENST00000426292.7
    Conserved Domains (2) summary
    PLN02885
    Location:15512
    PLN02885; nicotinate phosphoribosyltransferase
    cd01570
    Location:15398
    NAPRTase_A; Nicotinate phosphoribosyltransferase (NAPRTase), subgroup A. Nicotinate phosphoribosyltransferase catalyses the formation of NAMN and PPi from 5-phosphoribosy -1-pyrophosphate (PRPP) and nicotinic acid, this is the first, and also rate limiting, reaction ...
  2. NM_001363145.1NP_001350074.1  nicotinate phosphoribosyltransferase isoform 3

    Status: VALIDATED

    Source sequence(s)
    AB242230, AC067930, BC006284, CN260784
    Conserved Domains (1) summary
    cl28369
    Location:15498
    PncB; Nicotinic acid phosphoribosyltransferase [Coenzyme transport and metabolism]
  3. NM_001363146.1NP_001350075.1  nicotinate phosphoribosyltransferase isoform 4

    Status: VALIDATED

    Source sequence(s)
    AB242230, AC067930, BC006284, CN260784, HY010368
    Conserved Domains (1) summary
    cl28369
    Location:37297
    PncB; Nicotinic acid phosphoribosyltransferase [Coenzyme transport and metabolism]
  4. NM_145201.6NP_660202.3  nicotinate phosphoribosyltransferase isoform 1

    See identical proteins and their annotated locations for NP_660202.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB242230, AC067930, BC006284, CN260784
    Consensus CDS
    CCDS6403.2
    UniProtKB/Swiss-Prot
    Q6XQN6
    Related
    ENSP00000401508.2, ENST00000449291.7
    Conserved Domains (2) summary
    PLN02885
    Location:15525
    PLN02885; nicotinate phosphoribosyltransferase
    cd01570
    Location:15398
    NAPRTase_A; Nicotinate phosphoribosyltransferase (NAPRTase), subgroup A. Nicotinate phosphoribosyltransferase catalyses the formation of NAMN and PPi from 5-phosphoribosy -1-pyrophosphate (PRPP) and nicotinic acid, this is the first, and also rate limiting, reaction ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    143574585..143578349 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447333.1XP_024303101.1  nicotinate phosphoribosyltransferase isoform X8

    Conserved Domains (1) summary
    cl28369
    Location:37264
    PncB; Nicotinic acid phosphoribosyltransferase [Coenzyme transport and metabolism]
  2. XM_017013977.2XP_016869466.1  nicotinate phosphoribosyltransferase isoform X3

  3. XM_017013978.2XP_016869467.1  nicotinate phosphoribosyltransferase isoform X4

  4. XM_017013975.2XP_016869464.1  nicotinate phosphoribosyltransferase isoform X1

  5. XM_024447332.1XP_024303100.1  nicotinate phosphoribosyltransferase isoform X7

    Conserved Domains (1) summary
    cl28369
    Location:2313
    PncB; Nicotinic acid phosphoribosyltransferase [Coenzyme transport and metabolism]
  6. XM_017013979.2XP_016869468.1  nicotinate phosphoribosyltransferase isoform X6

  7. XM_017013976.2XP_016869465.1  nicotinate phosphoribosyltransferase isoform X2

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187571.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    64825..68370 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center