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NPL (N-acetylneuraminate pyruvate lyase)

Identity

Alias_namesC1orf13
chromosome 1 open reading frame 13
N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)
Alias_symbol (synonym)NPL1
DHDPS1
Other aliasC112
NAL
HGNC (Hugo) NPL
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

 


External links

Nomenclature
HGNC (Hugo)NPL   16781
Cards
Entrez_Gene (NCBI)NPL  80896  N-acetylneuraminate pyruvate lyase
AliasesC112; C1orf13; NAL; NPL1
GeneCards (Weizmann)NPL
Ensembl hg19 (Hinxton)ENSG00000135838 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135838 [Gene_View]  chr1:182789449-182830384 [Contig_View]  NPL [Vega]
ICGC DataPortalENSG00000135838
TCGA cBioPortalNPL
AceView (NCBI)NPL
Genatlas (Paris)NPL
WikiGenes80896
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)
EnsemblNPL - 1q25.3 [CytoView hg19]  NPL - 1q25.3 [CytoView hg38]
Mapping of homologs : NCBINPL [Mapview hg19]  NPL [Mapview hg38]
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
Cluster EST : UnigeneHs.731792 [ NCBI ]
CGAP (NCI)Hs.731792
Alternative Splicing GalleryENSG00000135838
Gene ExpressionNPL [ NCBI-GEO ]   NPL [ EBI - ARRAY_EXPRESS ]   NPL [ SEEK ]   NPL [ MEM ]
Gene Expression Viewer (FireBrowse)NPL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression 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 ]   
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
DMDM Disease mutations80896
Blocks (Seattle)NPL
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
FunCoupENSG00000135838
BioGRIDNPL
STRING (EMBL)NPL
ZODIACNPL
Ontologies - Pathways
QuickGOQ9BXD5
Ontology : AmiGOprotein binding  cytosol  carbohydrate metabolic process  N-acetylneuraminate lyase activity  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 lyase activity  N-acetylneuraminate catabolic process  N-acetylneuraminate catabolic process  identical protein binding  
Pathways : KEGGAmino sugar and nucleotide sugar metabolism   
NDEx NetworkNPL
Atlas of Cancer Signalling NetworkNPL
Wikipedia pathwaysNPL
Orthology - Evolution
OrthoDB80896
GeneTree (enSembl)ENSG00000135838
Phylogenetic Trees/Animal Genes : TreeFamNPL
HOVERGENQ9BXD5
HOGENOMQ9BXD5
Homologs : HomoloGeneNPL
Homology/Alignments : Family Browser (UCSC)NPL
Gene fusions - Rearrangements
Tumor Fusion PortalNPL
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNPL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NPL
dbVarNPL
ClinVarNPL
1000_GenomesNPL 
Exome Variant ServerNPL
ExAC (Exome Aggregation Consortium)ENSG00000135838
GNOMAD BrowserENSG00000135838
Genetic variants : HAPMAP80896
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]  
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] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611412   
Orphanet
DisGeNETNPL
MedgenNPL
Genetic Testing Registry NPL
NextProtQ9BXD5 [Medical]
TSGene80896
GENETestsNPL
Target ValidationNPL
Huge Navigator NPL [HugePedia]
snp3D : Map Gene to Disease80896
BioCentury BCIQNPL
ClinGenNPL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80896
Chemical/Pharm GKB GenePA25602
Clinical trialNPL
Miscellaneous
canSAR (ICR)NPL (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNPL
EVEXNPL
GoPubMedNPL
iHOPNPL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:01:59 CET 2017

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