Human Gene NAMPT (ENST00000222553.8_12) from GENCODE V47lift37
  Description: nicotinamide phosphoribosyltransferase (from RefSeq NM_005746.3)
Gencode Transcript: ENST00000222553.8_12
Gencode Gene: ENSG00000105835.13_16
Transcript (Including UTRs)
   Position: hg19 chr7:105,888,744-105,925,429 Size: 36,686 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr7:105,891,529-105,925,330 Size: 33,802 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:105,888,744-105,925,429)mRNA (may differ from genome)Protein (491 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NAMPT_HUMAN
DESCRIPTION: RecName: Full=Nicotinamide phosphoribosyltransferase; Short=NAmPRTase; Short=Nampt; EC=2.4.2.12; AltName: Full=Pre-B-cell colony-enhancing factor 1; Short=Pre-B cell-enhancing factor; AltName: Full=Visfatin;
FUNCTION: Catalyzes the condensation of nicotinamide with 5- phosphoribosyl-1-pyrophosphate to yield nicotinamide mononucleotide, an intermediate in the biosynthesis of NAD. It is the rate limiting component in the mammalian NAD biosynthesis pathway (By similarity).
CATALYTIC ACTIVITY: Nicotinamide D-ribonucleotide + diphosphate = nicotinamide + 5-phospho-alpha-D-ribose 1-diphosphate.
ENZYME REGULATION: Inhibited by FK866. FK866 competes for the same binding site as nicotinamide, but due to its very low dissociation rate, it is essentially an irreversible inhibitor.
PATHWAY: Cofactor biosynthesis; NAD(+) biosynthesis; nicotinamide D-ribonucleotide from 5-phospho-alpha-D-ribose 1-diphosphate and nicotinamide: step 1/1.
SUBUNIT: Homodimer.
SUBCELLULAR LOCATION: Cytoplasm (By similarity).
TISSUE SPECIFICITY: Expressed in large amounts in bone marrow, liver tissue, and muscle. Also present in heart, placenta, lung, and kidney tissues.
SIMILARITY: Belongs to the NAPRTase family.
CAUTION: Was originally (PubMed:8289818) thought to be a cytokine which acts on early B-lineage precursor cells, by enhancing the effect of IL-7 and SCF on pre-B-cell colony formation.
SEQUENCE CAUTION: Sequence=AAQ96862.1; Type=Erroneous gene model prediction; Sequence=EAL24400.1; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NAMPT
Diseases sorted by gene-association score: gestational diabetes (12), idiopathic recurrent pericarditis (9), ascariasis (8), diabetes mellitus, noninsulin-dependent (3), obesity (3), vascular disease (3), overnutrition (1), diabetes mellitus, insulin-dependent (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 265.16 RPKM in Whole Blood
Total median expression: 1242.31 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -34.7099-0.351 Picture PostScript Text
3' UTR -594.302785-0.213 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015977 - Nic_PRibTrfase-like
IPR016471 - Nicotinamide_PRibTrfase
IPR002638 - Quinolinate_PRibosylTrfase_C

Pfam Domains:
PF04095 - Nicotinate phosphoribosyltransferase (NAPRTase) family
PF18127 - Nicotinamide phosphoribosyltransferase, N-terminal domain

SCOP Domains:
51690 - Nicotinate/Quinolinate PRTase C-terminal domain-like
54675 - Nicotinate/Quinolinate PRTase N-terminal domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2E5B - X-ray MuPIT 2E5C - X-ray MuPIT 2E5D - X-ray MuPIT 2GVG - X-ray MuPIT 2GVJ - X-ray MuPIT 3DGR - X-ray MuPIT 3DHD - X-ray MuPIT 3DHF - X-ray MuPIT 3DKJ - X-ray MuPIT 3DKL - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P43490
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0004514 nicotinate-nucleotide diphosphorylase (carboxylating) activity
GO:0005125 cytokine activity
GO:0005515 protein binding
GO:0008144 drug binding
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0047280 nicotinamide phosphoribosyltransferase activity

Biological Process:
GO:0007165 signal transduction
GO:0007267 cell-cell signaling
GO:0007565 female pregnancy
GO:0007623 circadian rhythm
GO:0008284 positive regulation of cell proliferation
GO:0009435 NAD biosynthetic process
GO:0010469 regulation of receptor activity
GO:0014070 response to organic cyclic compound
GO:0019363 pyridine nucleotide biosynthetic process
GO:0032922 circadian regulation of gene expression
GO:0034356 NAD biosynthesis via nicotinamide riboside salvage pathway
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048511 rhythmic process
GO:0048661 positive regulation of smooth muscle cell proliferation
GO:0051770 positive regulation of nitric-oxide synthase biosynthetic process
GO:0008286 insulin receptor signaling pathway
GO:0060612 adipose tissue development

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016607 nuclear speck
GO:0030054 cell junction
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  HQ447548 - Synthetic construct Homo sapiens clone IMAGE:100070887; CCSB014616_01 pre-B-cell colony enhancing factor 1 (NAMPT) gene, encodes complete protein.
KJ898163 - Synthetic construct Homo sapiens clone ccsbBroadEn_07557 NAMPT gene, encodes complete protein.
LF209513 - JP 2014500723-A/17016: Polycomb-Associated Non-Coding RNAs.
U02020 - Human pre-B cell enhancing factor (PBEF) mRNA, complete cds.
BC072439 - Homo sapiens nicotinamide phosphoribosyltransferase, mRNA (cDNA clone MGC:87988 IMAGE:6023159), complete cds.
BC106046 - Homo sapiens nicotinamide phosphoribosyltransferase, mRNA (cDNA clone MGC:117256 IMAGE:6161081), complete cds.
AK292851 - Homo sapiens cDNA FLJ76475 complete cds, highly similar to Homo sapiens pre-B-cell colony enhancing factor 1 (PBEF1), transcript variant 1, mRNA.
AB590725 - Synthetic construct DNA, clone: pFN21AE1941, Homo sapiens PBEF1 gene for nicotinamide phosphoribosyltransferase, without stop codon, in Flexi system.
BC020691 - Homo sapiens nicotinamide phosphoribosyltransferase, mRNA (cDNA clone IMAGE:4717726), with apparent retained intron.
AK304085 - Homo sapiens cDNA FLJ55038 complete cds, highly similar to Nicotinamide phosphoribosyltransferase (EC 2.4.2.12).
CU687232 - Synthetic construct Homo sapiens gateway clone IMAGE:100022973 5' read PBEF1 mRNA.
MA445090 - JP 2018138019-A/17016: Polycomb-Associated Non-Coding RNAs.
LF329215 - JP 2014500723-A/136718: Polycomb-Associated Non-Coding RNAs.
LF329214 - JP 2014500723-A/136717: Polycomb-Associated Non-Coding RNAs.
LF329213 - JP 2014500723-A/136716: Polycomb-Associated Non-Coding RNAs.
LF329212 - JP 2014500723-A/136715: Polycomb-Associated Non-Coding RNAs.
JD305316 - Sequence 286340 from Patent EP1572962.
JD494882 - Sequence 475906 from Patent EP1572962.
JD509880 - Sequence 490904 from Patent EP1572962.
LF329211 - JP 2014500723-A/136714: Polycomb-Associated Non-Coding RNAs.
AL832518 - Homo sapiens mRNA; cDNA DKFZp666B131 (from clone DKFZp666B131).
L29050 - Human G0S9 mRNA, instability elements.
JD550829 - Sequence 531853 from Patent EP1572962.
JD233834 - Sequence 214858 from Patent EP1572962.
LF329210 - JP 2014500723-A/136713: Polycomb-Associated Non-Coding RNAs.
JD265439 - Sequence 246463 from Patent EP1572962.
LF329209 - JP 2014500723-A/136712: Polycomb-Associated Non-Coding RNAs.
JD424784 - Sequence 405808 from Patent EP1572962.
LF329207 - JP 2014500723-A/136710: Polycomb-Associated Non-Coding RNAs.
AK023341 - Homo sapiens cDNA FLJ13279 fis, clone OVARC1001055, moderately similar to PRE-B CELL ENHANCING FACTOR PRECURSOR.
JD265718 - Sequence 246742 from Patent EP1572962.
JD565428 - Sequence 546452 from Patent EP1572962.
JD268370 - Sequence 249394 from Patent EP1572962.
LF329204 - JP 2014500723-A/136707: Polycomb-Associated Non-Coding RNAs.
JD236421 - Sequence 217445 from Patent EP1572962.
JD051949 - Sequence 32973 from Patent EP1572962.
JD239595 - Sequence 220619 from Patent EP1572962.
MA564792 - JP 2018138019-A/136718: Polycomb-Associated Non-Coding RNAs.
MA564791 - JP 2018138019-A/136717: Polycomb-Associated Non-Coding RNAs.
MA564790 - JP 2018138019-A/136716: Polycomb-Associated Non-Coding RNAs.
MA564789 - JP 2018138019-A/136715: Polycomb-Associated Non-Coding RNAs.
MA564788 - JP 2018138019-A/136714: Polycomb-Associated Non-Coding RNAs.
MA564787 - JP 2018138019-A/136713: Polycomb-Associated Non-Coding RNAs.
MA564786 - JP 2018138019-A/136712: Polycomb-Associated Non-Coding RNAs.
MA564784 - JP 2018138019-A/136710: Polycomb-Associated Non-Coding RNAs.
MA564781 - JP 2018138019-A/136707: Polycomb-Associated Non-Coding RNAs.
LF329203 - JP 2014500723-A/136706: Polycomb-Associated Non-Coding RNAs.
LF329202 - JP 2014500723-A/136705: Polycomb-Associated Non-Coding RNAs.
LF329201 - JP 2014500723-A/136704: Polycomb-Associated Non-Coding RNAs.
JD486710 - Sequence 467734 from Patent EP1572962.
JD382700 - Sequence 363724 from Patent EP1572962.
JD332082 - Sequence 313106 from Patent EP1572962.
JD493071 - Sequence 474095 from Patent EP1572962.
JD546877 - Sequence 527901 from Patent EP1572962.
JD242502 - Sequence 223526 from Patent EP1572962.
LF329198 - JP 2014500723-A/136701: Polycomb-Associated Non-Coding RNAs.
LF329191 - JP 2014500723-A/136694: Polycomb-Associated Non-Coding RNAs.
JD406871 - Sequence 387895 from Patent EP1572962.
LF329190 - JP 2014500723-A/136693: Polycomb-Associated Non-Coding RNAs.
MA564780 - JP 2018138019-A/136706: Polycomb-Associated Non-Coding RNAs.
MA564779 - JP 2018138019-A/136705: Polycomb-Associated Non-Coding RNAs.
MA564778 - JP 2018138019-A/136704: Polycomb-Associated Non-Coding RNAs.
MA564775 - JP 2018138019-A/136701: Polycomb-Associated Non-Coding RNAs.
MA564768 - JP 2018138019-A/136694: Polycomb-Associated Non-Coding RNAs.
MA564767 - JP 2018138019-A/136693: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
NAD-BIOSYNTHESIS-III - NAD salvage

Reactome (by CSHL, EBI, and GO)

Protein P43490 (Reactome details) participates in the following event(s):

R-HSA-197250 NAMPT transfers PRIB to NAM to form NAMN
R-HSA-1368108 BMAL1:CLOCK,NPAS2 activates circadian gene expression
R-HSA-400253 Circadian Clock
R-HSA-197264 Nicotinamide salvaging
R-HSA-196807 Nicotinate metabolism
R-HSA-196849 Metabolism of water-soluble vitamins and cofactors
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A4D0Q9, A4D0R0, ENST00000222553.1, ENST00000222553.2, ENST00000222553.3, ENST00000222553.4, ENST00000222553.5, ENST00000222553.6, ENST00000222553.7, NAMPT_HUMAN, NM_005746, P43490, PBEF, PBEF1, Q3KQV0, Q8WW95, uc317dfc.1, uc317dfc.2
UCSC ID: ENST00000222553.8_12
RefSeq Accession: NM_005746.3
Protein: P43490 (aka NAMPT_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.