NAPRT (nicotinate phosphoribosyltransferase) - Rat Genome Database

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Gene: NAPRT (nicotinate phosphoribosyltransferase) Homo sapiens
Analyze
Symbol: NAPRT
Name: nicotinate phosphoribosyltransferase
RGD ID: 1602193
HGNC Page HGNC
Description: Exhibits nicotinate phosphoribosyltransferase activity. Involved in response to oxidative stress. Localizes to cytosol.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: FHA-HIT-interacting protein; NAPRT1; NAPRTase; nicotinate phosphoribosyltransferase domain containing 1; nicotinate phosphoribosyltransferase domain-containing protein 1; nicotinic acid phosphoribosyltransferase; PP3856
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8143,574,785 - 143,578,649 (-)EnsemblGRCh38hg38GRCh38
GRCh388143,574,585 - 143,578,349 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,656,955 - 144,660,500 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,728,098 - 144,731,636 (-)NCBINCBI36hg18NCBI36
Celera8140,967,186 - 140,970,744 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,908,475 - 139,912,033 (-)NCBIHuRef
CHM1_18144,697,179 - 144,700,664 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:14704851   PMID:15146197   PMID:17604275   PMID:18029348   PMID:18821565   PMID:19056867   PMID:21492230   PMID:21742010   PMID:21873635   PMID:22570471  
PMID:22863883   PMID:22939629   PMID:23376485   PMID:23533145   PMID:24097869   PMID:25416956   PMID:26344197   PMID:26496610   PMID:26675378   PMID:27342126   PMID:28416276   PMID:28514442  
PMID:28860121   PMID:28986522   PMID:31268507   PMID:31439867   PMID:31511522   PMID:31980649  


Genomics

Comparative Map Data
NAPRT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8143,574,785 - 143,578,649 (-)EnsemblGRCh38hg38GRCh38
GRCh388143,574,585 - 143,578,349 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,656,955 - 144,660,500 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,728,098 - 144,731,636 (-)NCBINCBI36hg18NCBI36
Celera8140,967,186 - 140,970,744 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,908,475 - 139,912,033 (-)NCBIHuRef
CHM1_18144,697,179 - 144,700,664 (-)NCBICHM1_1
Naprt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391575,762,812 - 75,766,330 (-)NCBIGRCm39mm39
GRCm39 Ensembl1575,762,805 - 75,766,330 (-)Ensembl
GRCm381575,890,963 - 75,894,481 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1575,890,956 - 75,894,481 (-)EnsemblGRCm38mm10GRCm38
MGSCv371575,721,394 - 75,724,911 (-)NCBIGRCm37mm9NCBIm37
MGSCv361575,718,219 - 75,721,736 (-)NCBImm8
Celera1577,391,944 - 77,395,461 (-)NCBICelera
Cytogenetic Map15D3NCBI
Naprt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27107,576,645 - 107,580,102 (-)NCBI
Rnor_6.0 Ensembl7116,922,944 - 116,926,555 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07116,922,979 - 116,926,436 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07116,814,946 - 116,818,403 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47113,865,273 - 113,868,730 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17113,899,517 - 113,902,960 (-)NCBI
Celera7103,933,643 - 103,937,100 (-)NCBICelera
Cytogenetic Map7q34NCBI
Naprt
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,280,223 - 2,283,613 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,280,223 - 2,283,613 (-)NCBIChiLan1.0ChiLan1.0
NAPRT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18143,343,280 - 143,347,347 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8143,340,928 - 143,362,971 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08140,328,119 - 140,331,972 (-)NCBIMhudiblu_PPA_v0panPan3
NAPRT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,235,985 - 37,239,261 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,235,045 - 37,239,224 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,192,494 - 37,195,827 (-)NCBI
ROS_Cfam_1.01337,707,832 - 37,711,165 (-)NCBI
UMICH_Zoey_3.11337,382,167 - 37,385,501 (-)NCBI
UNSW_CanFamBas_1.01337,499,120 - 37,502,451 (-)NCBI
UU_Cfam_GSD_1.01337,980,305 - 37,983,640 (-)NCBI
Naprt
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053031,128,622 - 1,131,790 (+)NCBI
SpeTri2.0NW_0049364708,554,739 - 8,557,889 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NAPRT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4969,524 - 986,750 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14983,428 - 986,750 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
NAPRT
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18137,794,933 - 137,799,145 (-)NCBI
ChlSab1.1 Ensembl8137,792,993 - 137,798,658 (-)Ensembl

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5316
Count of miRNA genes:962
Interacting mature miRNAs:1205
Transcripts:ENST00000276844, ENST00000340490, ENST00000426292, ENST00000435154, ENST00000449291, ENST00000460623, ENST00000462059, ENST00000464332, ENST00000480946, ENST00000488096, ENST00000491904, ENST00000498076, ENST00000525583, ENST00000529179, ENST00000532645
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2
Medium 2409 2834 1684 611 1750 452 4168 1927 2870 387 1408 1548 171 1204 2628 2
Low 29 155 40 13 197 13 189 268 843 32 46 63 3 160 3 2
Below cutoff 1 2 3 18 4 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001286829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB242230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC067930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF258565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY214325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY214326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY214327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN260784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS463824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY010368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB275307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000340490   ⟹   ENSP00000341136
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,574,787 - 143,578,339 (-)Ensembl
RefSeq Acc Id: ENST00000426292   ⟹   ENSP00000390949
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,574,787 - 143,578,343 (-)Ensembl
RefSeq Acc Id: ENST00000435154   ⟹   ENSP00000405670
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,574,785 - 143,578,343 (-)Ensembl
RefSeq Acc Id: ENST00000449291   ⟹   ENSP00000401508
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,574,785 - 143,578,330 (-)Ensembl
RefSeq Acc Id: ENST00000460623   ⟹   ENSP00000478911
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,574,785 - 143,576,162 (-)Ensembl
RefSeq Acc Id: ENST00000462059
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,577,267 - 143,578,321 (-)Ensembl
RefSeq Acc Id: ENST00000464332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,574,787 - 143,576,801 (-)Ensembl
RefSeq Acc Id: ENST00000480946
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,576,440 - 143,578,193 (-)Ensembl
RefSeq Acc Id: ENST00000488096
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,575,600 - 143,577,915 (-)Ensembl
RefSeq Acc Id: ENST00000491904
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,576,943 - 143,578,649 (-)Ensembl
RefSeq Acc Id: ENST00000498076
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,574,786 - 143,575,415 (-)Ensembl
RefSeq Acc Id: ENST00000525583   ⟹   ENSP00000437102
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,575,432 - 143,578,218 (-)Ensembl
RefSeq Acc Id: ENST00000529179
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,574,785 - 143,575,323 (-)Ensembl
RefSeq Acc Id: ENST00000532645   ⟹   ENSP00000433245
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,575,623 - 143,578,158 (-)Ensembl
RefSeq Acc Id: NM_001286829   ⟹   NP_001273758
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,574,785 - 143,578,330 (-)NCBI
HuRef8139,908,475 - 139,912,041 (-)NCBI
CHM1_18144,697,179 - 144,700,664 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363145   ⟹   NP_001350074
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,574,785 - 143,578,330 (-)NCBI
RefSeq Acc Id: NM_001363146   ⟹   NP_001350075
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,574,785 - 143,578,330 (-)NCBI
RefSeq Acc Id: NM_145201   ⟹   NP_660202
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,574,785 - 143,578,330 (-)NCBI
GRCh378144,656,955 - 144,660,881 (-)NCBI
Build 368144,728,098 - 144,731,636 (-)NCBI Archive
Celera8140,967,186 - 140,970,744 (-)RGD
HuRef8139,908,475 - 139,912,041 (-)NCBI
CHM1_18144,697,179 - 144,700,664 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013975   ⟹   XP_016869464
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,574,585 - 143,578,343 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013976   ⟹   XP_016869465
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,574,785 - 143,578,343 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013977   ⟹   XP_016869466
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,574,585 - 143,578,343 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013978   ⟹   XP_016869467
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,574,585 - 143,578,343 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013979   ⟹   XP_016869468
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,574,585 - 143,578,223 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447332   ⟹   XP_024303100
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,574,585 - 143,578,334 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447333   ⟹   XP_024303101
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,574,585 - 143,578,349 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_660202   ⟸   NM_145201
- Peptide Label: isoform 1
- UniProtKB: Q6XQN6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001273758   ⟸   NM_001286829
- Peptide Label: isoform 2
- UniProtKB: Q6XQN6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016869466   ⟸   XM_017013977
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016869467   ⟸   XM_017013978
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016869464   ⟸   XM_017013975
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016869468   ⟸   XM_017013979
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016869465   ⟸   XM_017013976
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024303101   ⟸   XM_024447333
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_024303100   ⟸   XM_024447332
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: NP_001350075   ⟸   NM_001363146
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001350074   ⟸   NM_001363145
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000390949   ⟸   ENST00000426292
RefSeq Acc Id: ENSP00000433245   ⟸   ENST00000532645
RefSeq Acc Id: ENSP00000437102   ⟸   ENST00000525583
RefSeq Acc Id: ENSP00000341136   ⟸   ENST00000340490
RefSeq Acc Id: ENSP00000401508   ⟸   ENST00000449291
RefSeq Acc Id: ENSP00000405670   ⟸   ENST00000435154
RefSeq Acc Id: ENSP00000478911   ⟸   ENST00000460623
Protein Domains
NAPRTase_C   NAPRTase_N

Promoters
RGD ID:7214357
Promoter ID:EPDNEW_H12925
Type:initiation region
Name:NAPRT_1
Description:nicotinate phosphoribosyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12926  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,578,330 - 143,578,390EPDNEW
RGD ID:7214359
Promoter ID:EPDNEW_H12926
Type:initiation region
Name:NAPRT_2
Description:nicotinate phosphoribosyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12925  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,578,614 - 143,578,674EPDNEW
RGD ID:6806658
Promoter ID:HG_KWN:62268
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000276844,   NM_145201,   OTTHUMT00000346707,   OTTHUMT00000346709,   OTTHUMT00000346710,   OTTHUMT00000346711,   OTTHUMT00000346712,   OTTHUMT00000346713,   OTTHUMT00000346714,   OTTHUMT00000346715,   OTTHUMT00000346716
Position:
Human AssemblyChrPosition (strand)Source
Build 368144,731,591 - 144,732,962 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_145201.5(NAPRT):c.838C>T (p.Pro280Ser) single nucleotide variant Malignant melanoma [RCV000068194] Chr8:143576689 [GRCh38]
Chr8:144658859 [GRCh37]
Chr8:144730002 [NCBI36]
Chr8:8q24.3
not provided
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144056476-144733805)x1 copy number loss not provided [RCV000747921] Chr8:144056476..144733805 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144621035-144713934)x0 copy number loss not provided [RCV000747936] Chr8:144621035..144713934 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144621839-144694067)x3 copy number gain not provided [RCV000747938] Chr8:144621839..144694067 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144623574-144685178)x3 copy number gain not provided [RCV000747939] Chr8:144623574..144685178 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144623574-144687901)x3 copy number gain not provided [RCV000747940] Chr8:144623574..144687901 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144623574-144694067)x3 copy number gain not provided [RCV000747941] Chr8:144623574..144694067 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144641370-144685178)x3 copy number gain not provided [RCV000747944] Chr8:144641370..144685178 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144641370-144694067)x3 copy number gain not provided [RCV000747945] Chr8:144641370..144694067 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144641370-144695499)x3 copy number gain not provided [RCV000747946] Chr8:144641370..144695499 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144641949-144688309)x3 copy number gain not provided [RCV000747947] Chr8:144641949..144688309 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144642054-144685178)x3 copy number gain not provided [RCV000747950] Chr8:144642054..144685178 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144642054-144686512)x3 copy number gain not provided [RCV000747951] Chr8:144642054..144686512 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144642918-144685178)x3 copy number gain not provided [RCV000747953] Chr8:144642918..144685178 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144644648-144689146)x3 copy number gain not provided [RCV000747954] Chr8:144644648..144689146 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144644686-144672215)x3 copy number gain not provided [RCV000747955] Chr8:144644686..144672215 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144644970-144672215)x3 copy number gain not provided [RCV000747956] Chr8:144644970..144672215 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144658716-144685178)x3 copy number gain not provided [RCV000747957] Chr8:144658716..144685178 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144658716-144689146)x3 copy number gain not provided [RCV000747958] Chr8:144658716..144689146 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 copy number loss not provided [RCV001006152] Chr8:143616831..144930611 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_145201.6(NAPRT):c.960C>T (p.Asp320=) single nucleotide variant not provided [RCV000961159] Chr8:143576494 [GRCh38]
Chr8:144658664 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
NM_145201.6(NAPRT):c.1447-7C>G single nucleotide variant not provided [RCV000961158] Chr8:143575100 [GRCh38]
Chr8:144657270 [GRCh37]
Chr8:8q24.3
benign
NM_145201.6(NAPRT):c.351C>T (p.Pro117=) single nucleotide variant not provided [RCV000893214] Chr8:143577819 [GRCh38]
Chr8:144659989 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
NM_145201.6(NAPRT):c.218G>A (p.Arg73Gln) single nucleotide variant not provided [RCV000909537] Chr8:143578101 [GRCh38]
Chr8:144660271 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30450 AgrOrtholog
COSMIC NAPRT COSMIC
Ensembl Genes ENSG00000147813 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000278488 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000341136 UniProtKB/TrEMBL
  ENSP00000390949 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000401508 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000405670 UniProtKB/TrEMBL
  ENSP00000433245 UniProtKB/TrEMBL
  ENSP00000437102 UniProtKB/TrEMBL
  ENSP00000478911 UniProtKB/TrEMBL
  ENSP00000480017 UniProtKB/Swiss-Prot
  ENSP00000487629 UniProtKB/TrEMBL
  ENSP00000487892 UniProtKB/TrEMBL
  ENSP00000488253 UniProtKB/TrEMBL
  ENSP00000488704 UniProtKB/TrEMBL
  ENSP00000488794 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000340490 UniProtKB/TrEMBL
  ENST00000426292 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000435154 UniProtKB/TrEMBL
  ENST00000449291 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000460623 UniProtKB/TrEMBL
  ENST00000525583 UniProtKB/TrEMBL
  ENST00000532645 UniProtKB/TrEMBL
  ENST00000621955 UniProtKB/Swiss-Prot
  ENST00000632020 UniProtKB/TrEMBL
  ENST00000632139 UniProtKB/Swiss-Prot
  ENST00000632636 UniProtKB/TrEMBL
  ENST00000632672 UniProtKB/TrEMBL
  ENST00000633197 UniProtKB/TrEMBL
Gene3D-CATH 3.20.20.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000147813 GTEx
  ENSG00000278488 GTEx
HGNC ID HGNC:30450 ENTREZGENE
Human Proteome Map NAPRT Human Proteome Map
InterPro Aldolase_TIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAPRTase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAPRTase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nic_PRibTrfase-Fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nic_PRibTrfase_pncB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nicotinate_pribotase-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:93100 UniProtKB/Swiss-Prot
NCBI Gene 93100 ENTREZGENE
OMIM 611552 OMIM
PANTHER PTHR11098 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam NAPRTase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAPRTase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671293 PharmGKB
PIRSF NAPRT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51690 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs NAPRTase_put UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WUT5_HUMAN UniProtKB/TrEMBL
  C9J8U2_HUMAN UniProtKB/TrEMBL
  G5E977_HUMAN UniProtKB/TrEMBL
  H0YDA6_HUMAN UniProtKB/TrEMBL
  H0YF31_HUMAN UniProtKB/TrEMBL
  PNCB_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A7BFI3 UniProtKB/Swiss-Prot
  Q6PJL1 UniProtKB/Swiss-Prot
  Q6XQN4 UniProtKB/Swiss-Prot
  Q6XQN5 UniProtKB/Swiss-Prot
  Q8N5E8 UniProtKB/Swiss-Prot
  Q9BRG0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-07-01 NAPRT  nicotinate phosphoribosyltransferase  NAPRT1  nicotinate phosphoribosyltransferase domain containing 1  Symbol and/or name change 5135510 APPROVED
2011-09-01 NAPRT1  nicotinate phosphoribosyltransferase domain containing 1  NAPRT1  nicotinate phosphoribosyltransferase domain containing 1  Symbol and/or name change 5135510 APPROVED