NPL (N-acetylneuraminate pyruvate lyase) - Rat Genome Database

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Gene: NPL (N-acetylneuraminate pyruvate lyase) Homo sapiens
Analyze
Symbol: NPL
Name: N-acetylneuraminate pyruvate lyase
RGD ID: 1348386
HGNC Page HGNC
Description: Exhibits identical protein binding activity. Predicted to be involved in N-acetylneuraminate catabolic process. Predicted to localize to cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C112; C1orf13; DHDPS1; dihydrodipicolinate synthase; dihydrodipicolinate synthetase homolog 1; MGC149582; MGC61869; N-acetylneuraminate lyase; N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase); N-acetylneuraminate pyruvate-lyase; N-acetylneuraminic acid aldolase; NAL; NALase; NPL1; sialate lyase; sialate-pyruvate lyase; sialic acid aldolase; sialic acid lyase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: NPLP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1182,789,293 - 182,830,384 (+)EnsemblGRCh38hg38GRCh38
GRCh381182,789,773 - 182,830,384 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371182,758,908 - 182,799,519 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361181,028,017 - 181,065,211 (+)NCBINCBI36hg18NCBI36
Build 341179,493,050 - 179,530,245NCBI
Celera1155,872,543 - 155,909,737 (+)NCBI
Cytogenetic Map1q25.3NCBI
HuRef1153,994,259 - 154,035,194 (+)NCBIHuRef
CHM1_11184,181,835 - 184,222,761 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (TAS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:11318611   PMID:11737202   PMID:12453637   PMID:12477932   PMID:15489334   PMID:16147865   PMID:16710414   PMID:19057931   PMID:21832049   PMID:22692205   PMID:25416956   PMID:26186194  
PMID:28514442   PMID:31452512   PMID:32296183  


Genomics

Comparative Map Data
NPL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1182,789,293 - 182,830,384 (+)EnsemblGRCh38hg38GRCh38
GRCh381182,789,773 - 182,830,384 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371182,758,908 - 182,799,519 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361181,028,017 - 181,065,211 (+)NCBINCBI36hg18NCBI36
Build 341179,493,050 - 179,530,245NCBI
Celera1155,872,543 - 155,909,737 (+)NCBI
Cytogenetic Map1q25.3NCBI
HuRef1153,994,259 - 154,035,194 (+)NCBIHuRef
CHM1_11184,181,835 - 184,222,761 (+)NCBICHM1_1
Npl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391153,378,762 - 153,425,460 (-)NCBIGRCm39mm39
GRCm39 Ensembl1153,378,761 - 153,425,791 (-)Ensembl
GRCm381153,503,016 - 153,549,714 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1153,503,015 - 153,550,045 (-)EnsemblGRCm38mm10GRCm38
MGSCv371155,350,146 - 155,396,844 (-)NCBIGRCm37mm9NCBIm37
MGSCv361155,265,234 - 155,311,932 (-)NCBImm8
Celera1155,927,936 - 155,974,856 (-)NCBICelera
Cytogenetic Map1G3NCBI
Npl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21365,655,099 - 65,697,464 (-)NCBI
Rnor_6.0 Ensembl1370,938,082 - 70,980,913 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01370,938,073 - 70,981,179 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01375,903,277 - 75,946,223 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41368,524,023 - 68,567,312 (-)NCBIRGSC3.4rn4RGSC3.4
Celera1365,558,454 - 65,600,109 (-)NCBICelera
Cytogenetic Map13q21NCBI
Npl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540621,633,032 - 21,670,958 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540621,633,979 - 21,670,279 (+)NCBIChiLan1.0ChiLan1.0
NPL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11161,957,118 - 161,997,635 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1161,958,896 - 161,997,222 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01158,305,203 - 158,346,531 (+)NCBIMhudiblu_PPA_v0panPan3
NPL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1716,186,693 - 16,226,658 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl716,192,005 - 16,224,033 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha715,773,528 - 15,812,293 (+)NCBI
ROS_Cfam_1.0715,916,535 - 15,955,524 (+)NCBI
UMICH_Zoey_3.1715,828,310 - 15,866,959 (+)NCBI
UNSW_CanFamBas_1.0715,937,498 - 15,975,727 (+)NCBI
UU_Cfam_GSD_1.0716,066,339 - 16,105,552 (+)NCBI
Npl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934489,095,379 - 89,129,855 (-)NCBI
SpeTri2.0NW_0049364816,942,128 - 6,977,042 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NPL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9124,093,603 - 124,132,860 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19124,093,579 - 124,132,862 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
NPL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12546,543,645 - 46,582,700 (-)NCBI
ChlSab1.1 Ensembl2546,541,401 - 46,581,767 (-)Ensembl
Vero_WHO_p1.0NW_02366605547,760,165 - 47,800,243 (-)NCBI
Npl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462481410,968,218 - 11,006,637 (-)NCBI

Position Markers
SHGC-58621  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371182,784,216 - 182,784,317UniSTSGRCh37
Build 361181,050,839 - 181,050,940RGDNCBI36
Celera1155,895,365 - 155,895,466RGD
Cytogenetic Map1q25UniSTS
HuRef1154,019,891 - 154,019,992UniSTS
TNG Radiation Hybrid Map186477.0UniSTS
SHGC-76016  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371182,765,051 - 182,765,279UniSTSGRCh37
Build 361181,031,674 - 181,031,902RGDNCBI36
Celera1155,876,200 - 155,876,428RGD
Cytogenetic Map1q25UniSTS
HuRef1154,000,726 - 154,000,954UniSTS
TNG Radiation Hybrid Map186481.0UniSTS
GeneMap99-GB4 RH Map1634.24UniSTS
NPL__6071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371182,797,956 - 182,798,753UniSTSGRCh37
Build 361181,064,579 - 181,065,376RGDNCBI36
Celera1155,909,105 - 155,909,902RGD
HuRef1154,033,631 - 154,034,428UniSTS
G20642  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371182,799,300 - 182,799,454UniSTSGRCh37
Build 361181,065,923 - 181,066,077RGDNCBI36
Celera1155,910,449 - 155,910,603RGD
Cytogenetic Map1q25UniSTS
HuRef1154,034,975 - 154,035,129UniSTS
A006A04  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371182,799,300 - 182,799,454UniSTSGRCh37
Build 361181,065,923 - 181,066,077RGDNCBI36
Celera1155,910,449 - 155,910,603RGD
Cytogenetic Map1q25UniSTS
HuRef1154,034,975 - 154,035,129UniSTS
GeneMap99-GB4 RH Map1635.56UniSTS
D1S3690  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p33UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map13q22.2UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map9q33UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2656
Count of miRNA genes:940
Interacting mature miRNAs:1116
Transcripts:ENST00000258317, ENST00000367550, ENST00000367552, ENST00000367553, ENST00000367554, ENST00000367555, ENST00000460179, ENST00000460690, ENST00000463899, ENST00000471010, ENST00000479721, ENST00000488424
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
Medium 61 813 141 123 1093 114 342 28 410 169 124 518 11 340 40 3
Low 2362 2058 1574 494 830 342 3954 2027 3311 233 1309 1064 163 1 863 2689 1 2
Below cutoff 10 120 6 4 21 6 60 139 11 12 20 19 1 59 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_053009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001200050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001200051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001200052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001200056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_030769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF338436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI249145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL525867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY336748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC058003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB961482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000258317   ⟹   ENSP00000258317
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1182,794,350 - 182,830,384 (+)Ensembl
RefSeq Acc Id: ENST00000367552   ⟹   ENSP00000356523
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1182,794,350 - 182,829,679 (+)Ensembl
RefSeq Acc Id: ENST00000367553   ⟹   ENSP00000356524
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1182,792,259 - 182,830,132 (+)Ensembl
RefSeq Acc Id: ENST00000367554   ⟹   ENSP00000356525
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1182,789,449 - 182,830,384 (+)Ensembl
RefSeq Acc Id: ENST00000367555   ⟹   ENSP00000356526
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1182,789,769 - 182,830,384 (+)Ensembl
RefSeq Acc Id: ENST00000460179
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1182,818,638 - 182,829,909 (+)Ensembl
RefSeq Acc Id: ENST00000460690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1182,789,449 - 182,812,190 (+)Ensembl
RefSeq Acc Id: ENST00000463899
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1182,789,737 - 182,827,020 (+)Ensembl
RefSeq Acc Id: ENST00000471010
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1182,792,231 - 182,806,532 (+)Ensembl
RefSeq Acc Id: ENST00000479721
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1182,789,773 - 182,816,747 (+)Ensembl
RefSeq Acc Id: ENST00000488424
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1182,789,293 - 182,830,384 (+)Ensembl
RefSeq Acc Id: ENST00000614468   ⟹   ENSP00000482415
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1182,794,350 - 182,830,384 (+)Ensembl
RefSeq Acc Id: NM_001200050   ⟹   NP_001186979
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381182,789,773 - 182,830,384 (+)NCBI
GRCh371182,758,584 - 182,799,519 (+)ENTREZGENE
HuRef1153,994,259 - 154,035,194 (+)ENTREZGENE
CHM1_11184,181,835 - 184,222,761 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001200051   ⟹   NP_001186980
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381182,789,773 - 182,830,384 (+)NCBI
GRCh371182,758,584 - 182,799,519 (+)ENTREZGENE
HuRef1153,994,259 - 154,035,194 (+)ENTREZGENE
CHM1_11184,181,835 - 184,222,761 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001200052   ⟹   NP_001186981
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381182,789,773 - 182,830,384 (+)NCBI
GRCh371182,758,584 - 182,799,519 (+)ENTREZGENE
HuRef1153,994,259 - 154,035,194 (+)ENTREZGENE
CHM1_11184,181,835 - 184,222,761 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001200056   ⟹   NP_001186985
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381182,789,773 - 182,830,384 (+)NCBI
GRCh371182,758,584 - 182,799,519 (+)ENTREZGENE
HuRef1153,994,259 - 154,035,194 (+)ENTREZGENE
CHM1_11184,181,835 - 184,222,761 (+)NCBI
Sequence:
RefSeq Acc Id: NM_030769   ⟹   NP_110396
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381182,789,773 - 182,830,384 (+)NCBI
GRCh371182,758,584 - 182,799,519 (+)ENTREZGENE
Build 361181,028,017 - 181,065,211 (+)NCBI Archive
Celera1155,872,543 - 155,909,737 (+)RGD
HuRef1153,994,259 - 154,035,194 (+)ENTREZGENE
CHM1_11184,181,835 - 184,222,761 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_110396   ⟸   NM_030769
- Peptide Label: isoform 1
- UniProtKB: Q9BXD5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001186985   ⟸   NM_001200056
- Peptide Label: isoform 3
- UniProtKB: Q9BXD5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001186981   ⟸   NM_001200052
- Peptide Label: isoform 5
- UniProtKB: A0A087WZ70 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001186980   ⟸   NM_001200051
- Peptide Label: isoform 4
- UniProtKB: Q9BXD5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001186979   ⟸   NM_001200050
- Peptide Label: isoform 2
- UniProtKB: Q9BXD5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000258317   ⟸   ENST00000258317
RefSeq Acc Id: ENSP00000482415   ⟸   ENST00000614468
RefSeq Acc Id: ENSP00000356524   ⟸   ENST00000367553
RefSeq Acc Id: ENSP00000356523   ⟸   ENST00000367552
RefSeq Acc Id: ENSP00000356526   ⟸   ENST00000367555
RefSeq Acc Id: ENSP00000356525   ⟸   ENST00000367554

Promoters
RGD ID:6786145
Promoter ID:HG_KWN:6468
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000085464,   OTTHUMT00000085465,   OTTHUMT00000085467,   OTTHUMT00000085468,   UC001GPO.1,   UC009WYB.1,   UC009WYC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361181,025,154 - 181,025,654 (+)MPROMDB
RGD ID:6786144
Promoter ID:HG_KWN:6469
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000098457,   UC001GPQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361181,027,451 - 181,027,951 (+)MPROMDB
RGD ID:6858322
Promoter ID:EPDNEW_H2326
Type:multiple initiation site
Name:NPL_2
Description:N-acetylneuraminate pyruvate lyase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2327  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381182,789,647 - 182,789,707EPDNEW
RGD ID:6858324
Promoter ID:EPDNEW_H2327
Type:multiple initiation site
Name:NPL_1
Description:N-acetylneuraminate pyruvate lyase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2326  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381182,789,773 - 182,789,833EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1 copy number loss See cases [RCV000051221] Chr1:175035040..186042595 [GRCh38]
Chr1:175004176..186011727 [GRCh37]
Chr1:173270799..184278350 [NCBI36]
Chr1:1q25.1-31.1
pathogenic
GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1 copy number loss See cases [RCV000053948] Chr1:179032905..199724897 [GRCh38]
Chr1:179002040..199694025 [GRCh37]
Chr1:177268663..197960648 [NCBI36]
Chr1:1q25.2-32.1
pathogenic
GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1 copy number loss See cases [RCV000053949] Chr1:182137726..186931125 [GRCh38]
Chr1:182106861..186900257 [GRCh37]
Chr1:180373484..185166880 [NCBI36]
Chr1:1q25.3-31.1
pathogenic
NM_001200050.1(NPL):c.662C>T (p.Ser221Phe) single nucleotide variant Malignant melanoma [RCV000060010] Chr1:182822180 [GRCh38]
Chr1:182791315 [GRCh37]
Chr1:181057938 [NCBI36]
Chr1:1q25.3
not provided
GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1 copy number loss See cases [RCV000134144] Chr1:176595962..196301688 [GRCh38]
Chr1:176565098..196270818 [GRCh37]
Chr1:174831721..194537441 [NCBI36]
Chr1:1q25.2-31.3
pathogenic
GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3 copy number gain See cases [RCV000134876] Chr1:171039975..186875957 [GRCh38]
Chr1:171009116..186845089 [GRCh37]
Chr1:169275740..185111712 [NCBI36]
Chr1:1q24.3-31.1
pathogenic
GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1 copy number loss See cases [RCV000142369] Chr1:170929720..191065409 [GRCh38]
Chr1:170898861..191034539 [GRCh37]
Chr1:169165485..189301162 [NCBI36]
Chr1:1q24.3-31.2
pathogenic
GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1 copy number loss See cases [RCV000143688] Chr1:170036068..187555148 [GRCh38]
Chr1:170005209..187524280 [GRCh37]
Chr1:168271833..185790903 [NCBI36]
Chr1:1q24.2-31.1
pathogenic
GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1 copy number loss See cases [RCV000240242] Chr1:181572003..191524283 [GRCh37]
Chr1:1q25.3-31.2
pathogenic
NM_001200050.1(NPL):c.541G>A (p.Val181Met) single nucleotide variant not specified [RCV000238625] Chr1:182818681 [GRCh38]
Chr1:182787816 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 copy number loss See cases [RCV000447098] Chr1:161676893..184071723 [GRCh37]
Chr1:1q23.3-25.3
pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)x1 copy number loss See cases [RCV000445748] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1q25.2-25.3(chr1:179564752-183850820)x1 copy number loss See cases [RCV000448646] Chr1:179564752..183850820 [GRCh37]
Chr1:1q25.2-25.3
pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)x1 copy number loss See cases [RCV000448809] Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1q25.3(chr1:180830413-183981164)x3 copy number gain See cases [RCV000448160] Chr1:180830413..183981164 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)x1 copy number loss See cases [RCV000448686] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3
pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1 copy number loss See cases [RCV000512128] Chr1:179011314..199022759 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3 copy number gain See cases [RCV000512520] Chr1:173138799..185129406 [GRCh37]
Chr1:1q25.1-25.3
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q25.1-31.1(chr1:173131908-187406532)x1 copy number loss not provided [RCV000736735] Chr1:173131908..187406532 [GRCh37]
Chr1:1q25.1-31.1
pathogenic
GRCh37/hg19 1q25.3(chr1:182776678-182781819)x1 copy number loss not provided [RCV000749255] Chr1:182776678..182781819 [GRCh37]
Chr1:1q25.3
benign
GRCh37/hg19 1q25.3(chr1:182777405-182781819)x1 copy number loss not provided [RCV000749256] Chr1:182777405..182781819 [GRCh37]
Chr1:1q25.3
benign
GRCh37/hg19 1q25.3(chr1:182777405-182786953)x0 copy number loss not provided [RCV000749257] Chr1:182777405..182786953 [GRCh37]
Chr1:1q25.3
benign
GRCh37/hg19 1q25.3(chr1:182778160-182781819)x1 copy number loss not provided [RCV000749258] Chr1:182778160..182781819 [GRCh37]
Chr1:1q25.3
benign
NM_030769.2(NPL):c.579G>A (p.Gln193=) single nucleotide variant not provided [RCV000961330] Chr1:182818662 [GRCh38]
Chr1:182787797 [GRCh37]
Chr1:1q25.3
benign
GRCh37/hg19 1q25.3(chr1:181863430-183148056)x1 copy number loss not provided [RCV000762696] Chr1:181863430..183148056 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_030769.2(NPL):c.354A>G (p.Pro118=) single nucleotide variant not provided [RCV000966134] Chr1:182814848 [GRCh38]
Chr1:182783983 [GRCh37]
Chr1:1q25.3
benign
NC_000001.10:g.172652343_183538289del10885947 deletion 1q24q25 microdeletion syndrome [RCV000785662] Chr1:172652343..183538289 [GRCh37]
Chr1:1q24.3-25.3
pathogenic
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
NM_030769.2(NPL):c.738+7G>A single nucleotide variant not provided [RCV000883966] Chr1:182822206 [GRCh38]
Chr1:182791341 [GRCh37]
Chr1:1q25.3
benign
GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1 copy number loss not provided [RCV001005157] Chr1:177551193..199599056 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1q25.3(chr1:180586428-183178629)x3 copy number gain not provided [RCV001005158] Chr1:180586428..183178629 [GRCh37]
Chr1:1q25.3
uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16781 AgrOrtholog
COSMIC NPL COSMIC
Ensembl Genes ENSG00000135838 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000258317 UniProtKB/Swiss-Prot
  ENSP00000356523 UniProtKB/Swiss-Prot
  ENSP00000356524 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000356525 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000356526 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000482415 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000258317 UniProtKB/Swiss-Prot
  ENST00000367552 UniProtKB/Swiss-Prot
  ENST00000367553 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000367554 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000367555 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000614468 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 3.20.20.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000135838 GTEx
HGNC ID HGNC:16781 ENTREZGENE
Human Proteome Map NPL Human Proteome Map
InterPro Aldolase_TIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DapA-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NanA UniProtKB/Swiss-Prot
KEGG Report hsa:80896 UniProtKB/Swiss-Prot
NCBI Gene 80896 ENTREZGENE
OMIM 611412 OMIM
PANTHER PTHR12128 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DHDPS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25602 PharmGKB
PIRSF DHDPS UniProtKB/Swiss-Prot
PRINTS DHPICSNTHASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DHDPS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WZ70 ENTREZGENE, UniProtKB/TrEMBL
  NPL_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2R839 UniProtKB/Swiss-Prot
  Q4G0Q8 UniProtKB/Swiss-Prot
  Q4G0Z2 UniProtKB/Swiss-Prot
  Q64L88 UniProtKB/Swiss-Prot
  Q6PEL0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-07 NPL  N-acetylneuraminate pyruvate lyase    N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)  Symbol and/or name change 5135510 APPROVED