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NPL (N-acetylneuraminate pyruvate lyase)

Identity

Alias (NCBI)C112
C1orf13
NAL
NPL1
HGNC (Hugo) NPL
HGNC Alias symbNPL1
DHDPS1
HGNC Alias namedihydrodipicolinate synthetase homolog 1 (E. coli)
HGNC Previous nameC1orf13
HGNC Previous namechromosome 1 open reading frame 13
 N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)
LocusID (NCBI) 80896
Atlas_Id 70944
Location 1q25.3  [Link to chromosome band 1q25]
Location_base_pair Starts at 182789449 and ends at 182830384 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CERS5 (12q13.12) / NPL (1q25.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 4 ]
  t(1;1)(q25;q25) DHX09/NPL
DHX9/NPL (1q25)
t(1;1)(q25;q25) DHX09/NPL
DHX9/NPL (1q25)

External links

Nomenclature
HGNC (Hugo)NPL   16781
Cards
Entrez_Gene (NCBI)NPL    N-acetylneuraminate pyruvate lyase
AliasesC112; C1orf13; NAL; NPL1
GeneCards (Weizmann)NPL
Ensembl hg19 (Hinxton)ENSG00000135838 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135838 [Gene_View]  ENSG00000135838 [Sequence]  chr1:182789449-182830384 [Contig_View]  NPL [Vega]
ICGC DataPortalENSG00000135838
TCGA cBioPortalNPL
AceView (NCBI)NPL
Genatlas (Paris)NPL
SOURCE (Princeton)NPL
Genetics Home Reference (NIH)NPL
Genomic and cartography
GoldenPath hg38 (UCSC)NPL  -     chr1:182789449-182830384 +  1q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NPL  -     1q25.3   [Description]    (hg19-Feb_2009)
GoldenPathNPL - 1q25.3 [CytoView hg19]  NPL - 1q25.3 [CytoView hg38]
ImmunoBaseENSG00000135838
genome Data Viewer NCBINPL [Mapview hg19]  
OMIM611412   
Gene and transcription
Genbank (Entrez)AF338436 AI249145 AK297017 AK301068 AK313225
RefSeq transcript (Entrez)NM_001200050 NM_001200051 NM_001200052 NM_001200056 NM_030769
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NPL
Alternative Splicing GalleryENSG00000135838
Gene ExpressionNPL [ NCBI-GEO ]   NPL [ EBI - ARRAY_EXPRESS ]   NPL [ SEEK ]   NPL [ MEM ]
Gene Expression Viewer (FireBrowse)NPL [ Firebrowse - Broad ]
GenevisibleExpression of NPL in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80896
GTEX Portal (Tissue expression)NPL
Human Protein AtlasENSG00000135838-NPL [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BXD5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BXD5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BXD5
Splice isoforms : SwissVarQ9BXD5
Catalytic activity : Enzyme4.1.3.3 [ Enzyme-Expasy ]   4.1.3.34.1.3.3 [ IntEnz-EBI ]   4.1.3.3 [ BRENDA ]   4.1.3.3 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ9BXD5
Domains : Interpro (EBI)Aldolase_TIM    DapA-like    NanA   
Domain families : Pfam (Sanger)DHDPS (PF00701)   
Domain families : Pfam (NCBI)pfam00701   
Domain families : Smart (EMBL)DHDPS (SM01130)  
Conserved Domain (NCBI)NPL
Blocks (Seattle)NPL
PDB (RSDB)6ARH   
PDB Europe6ARH   
PDB (PDBSum)6ARH   
PDB (IMB)6ARH   
Structural Biology KnowledgeBase6ARH   
SCOP (Structural Classification of Proteins)6ARH   
CATH (Classification of proteins structures)6ARH   
SuperfamilyQ9BXD5
Human Protein Atlas [tissue]ENSG00000135838-NPL [tissue]
Peptide AtlasQ9BXD5
HPRD14836
IPIIPI00006165   IPI00470729   IPI00827873   IPI00447505   IPI00640193   IPI00643291   IPI00908821   IPI00952692   IPI01009005   
Protein Interaction databases
DIP (DOE-UCLA)Q9BXD5
IntAct (EBI)Q9BXD5
BioGRIDNPL
STRING (EMBL)NPL
ZODIACNPL
Ontologies - Pathways
QuickGOQ9BXD5
Ontology : AmiGOprotein binding  cytosol  carbohydrate metabolic process  N-acetylneuraminate lyase activity  N-acetylneuraminate catabolic process  N-acetylneuraminate catabolic process  identical protein binding  
Ontology : EGO-EBIprotein binding  cytosol  carbohydrate metabolic process  N-acetylneuraminate lyase activity  N-acetylneuraminate catabolic process  N-acetylneuraminate catabolic process  identical protein binding  
NDEx NetworkNPL
Atlas of Cancer Signalling NetworkNPL
Wikipedia pathwaysNPL
Orthology - Evolution
OrthoDB80896
GeneTree (enSembl)ENSG00000135838
Phylogenetic Trees/Animal Genes : TreeFamNPL
HOGENOMQ9BXD5
Homologs : HomoloGeneNPL
Homology/Alignments : Family Browser (UCSC)NPL
Gene fusions - Rearrangements
Fusion : QuiverNPL
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNPL [hg38]
dbVarNPL
ClinVarNPL
MonarchNPL
1000_GenomesNPL 
Exome Variant ServerNPL
GNOMAD BrowserENSG00000135838
Varsome BrowserNPL
Genomic Variants (DGV)NPL [DGVbeta]
DECIPHERNPL [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNPL 
Mutations
ICGC Data PortalNPL 
TCGA Data PortalNPL 
Broad Tumor PortalNPL
OASIS PortalNPL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNPL  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DNPL
Mutations and Diseases : HGMDNPL
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch NPL
DgiDB (Drug Gene Interaction Database)NPL
DoCM (Curated mutations)NPL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NPL (select a term)
intoGenNPL
Cancer3DNPL(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611412   
Orphanet
DisGeNETNPL
MedgenNPL
Genetic Testing Registry NPL
NextProtQ9BXD5 [Medical]
GENETestsNPL
Target ValidationNPL
Huge Navigator NPL [HugePedia]
ClinGenNPL
Clinical trials, drugs, therapy
MyCancerGenomeNPL
Protein Interactions : CTD
Pharm GKB GenePA25602
Clinical trialNPL
Miscellaneous
canSAR (ICR)NPL (select the gene name)
HarmonizomeNPL
DataMed IndexNPL
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNPL
EVEXNPL
GoPubMedNPL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Dec 5 17:19:25 CET 2020
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