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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NPL Gene

protein-coding   GIFtS: 57
GCID: GC01P182758

N-Acetylneuraminate Pyruvate Lyase (Dihydrodipicolinate...

(Previous name: chromosome 1 open reading frame 13)
(Previous symbol: C1orf13)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
N-Acetylneuraminate Pyruvate Lyase (Dihydrodipicolinate Synthase)1 2     Dihydrodipicolinate Synthetase Homolog 1 (E. Coli)1
C1orf131 2 3 5     NAL2
Sialate-Pyruvate Lyase2 3     NPL12
Sialic Acid Aldolase2 3     Dihydrodipicolinate Synthetase Homolog 12
NALase2 3     N-Acetylneuraminate Lyase2
N-Acetylneuraminic Acid Aldolase2 3     N-Acetylneuraminate Pyruvate-Lyase3
EC 4.1.3.33 8     Sialate Lyase3
C1122 5     Sialic Acid Lyase3
Chromosome 1 Open Reading Frame 131     

External Ids:    HGNC: 167811   Entrez Gene: 808962   Ensembl: ENSG000001358387   OMIM: 6114125   UniProtKB: Q9BXD53   

Export aliases for NPL gene to outside databases

Previous GC identifers: GC01P179278 GC01P180000 GC01P179493 GC01P181025 GC01P153997


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NPL Gene:
This gene encodes a member of the N-acetylneuraminate lyase sub-family of (beta/alpha)(8)-barrel enzymes.
N-acetylneuraminate lyases regulate cellular concentrations of N-acetyl-neuraminic acid (sialic acid) by
mediating the reversible conversion of sialic acid into N-acetylmannosamine and pyruvate. A pseudogene of this
gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple
isoforms have been observed for this gene. (provided by RefSeq, Jan 2011)

GeneCards Summary for NPL Gene: 
NPL (N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)) is a protein-coding gene. Diseases associated with NPL include retinal perforation, and toxic optic neuropathy. GO annotations related to this gene include N-acetylneuraminate lyase activity. An important paralog of this gene is HOGA1.

UniProtKB/Swiss-Prot: NPL_HUMAN, Q9BXD5
Function: Catalyzes the cleavage of N-acetylneuraminic acid (sialic acid) to form pyruvate and N-acetylmannosamine
via a Schiff base intermediate. It prevents sialic acids from being recycled and returning to the cell surface.
Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway. Although human is not able to catalyze
formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded (By
similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NPL gene promoter:
         c-Fos   AML1a   AP-1   S8   c-Rel   FOXO4   c-Jun   Msx-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNPL promoter sequence
   Search SABiosciences Chromatin IP Primers for NPL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NPL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q25   Ensembl cytogenetic band:  1q25.3   HGNC cytogenetic band: 1q25

NPL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NPL gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P182758:  view genomic region     (about GC identifiers)

Start:
182,758,428 bp from pter      End:
182,799,519 bp from pter
Size:
41,092 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NPL_HUMAN, Q9BXD5 (See protein sequence)
Recommended Name: N-acetylneuraminate lyase  
Size: 320 amino acids; 35163 Da
Subunit: Homotetramer (By similarity)
Subcellular location: Cytoplasm (By similarity)
Sequence caution: Sequence=BC042003; Type=Frameshift; Positions=213;
Secondary accessions: B2R839 Q4G0Q8 Q4G0Z2 Q64L88 Q6PEL0
Alternative splicing: 5 isoforms:  Q9BXD5-1   Q9BXD5-2   Q9BXD5-3   Q9BXD5-4   Q9BXD5-5   (No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for NPL: NX_Q9BXD5

Explore proteomics data for NPL at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BXD5

  • 4/6 DME Specific Peptides for NPL (Q9BXD5) (see all 6)
     PMGPPRLPL  KFSDTDLLD  GAVGSTYNYLG  AEAKLKSLDFLS 

    NPL Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NPL Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001186979.1  NP_001186980.1  NP_001186981.1  NP_001186985.1  NP_110396.1  

    ENSEMBL proteins: 
     ENSP00000356526   ENSP00000356524   ENSP00000356523   ENSP00000258317   ENSP00000356521  
     ENSP00000356525  

    Human Recombinant Protein Products for NPL: 
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    Novus Biologicals NPL Proteins
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    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for NPL
    Cloud-Clone Corp. Proteins for NPL 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    NPL for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for NPL


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR013785 Aldolase_TIM
     IPR002220 Dihydrodipicolinate_synth-like

    Graphical View of Domain Structure for InterPro Entry Q9BXD5

    ProtoNet protein and cluster: Q9BXD5

    1 Blocks protein domain: IPB002220 Dihydrodipicolinate synthetase

    UniProtKB/Swiss-Prot: NPL_HUMAN, Q9BXD5
    Similarity: Belongs to the DapA family. NanA subfamily


    NPL for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NPL_HUMAN, Q9BXD5
    Function: Catalyzes the cleavage of N-acetylneuraminic acid (sialic acid) to form pyruvate and N-acetylmannosamine
    via a Schiff base intermediate. It prevents sialic acids from being recycled and returning to the cell surface.
    Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway. Although human is not able to catalyze
    formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded (By
    similarity)
    Catalytic activity: N-acetylneuraminate = N-acetyl-D-mannosamine + pyruvate

         Enzyme Number (IUBMB): EC 4.1.3.31 2

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008747N-acetylneuraminate lyase activity ISS--
    GO:0016829lyase activity ----
         
    NPL for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for NPL:
     Decreased viability of wild-ty  Decreased viability with pacli 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Npl):
     homeostasis/metabolism  immune system 

    NPL for phenotypes           About GeneDecksing

    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NPL 
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    SwitchGear 3'UTR luciferase reporter plasmidNPL 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NPL About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Amino sugar and nucleotide sugar metabolism
    Amino sugar and nucleotide sugar metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1         Kegg Pathway  (Kegg details for NPL):
        Amino sugar and nucleotide sugar metabolism

    UniProtKB/Swiss-Prot: NPL_HUMAN, Q9BXD5
    Pathway: Amino-sugar metabolism; N-acetylneuraminate degradation


    NPL for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NPL

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for NPL (ENSP000002583174) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    GNEENSP000003798394STRING: ENSP00000379839
    NANSENSP000002104444STRING: ENSP00000210444
    RENBPENSP000003773034STRING: ENSP00000377303
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process IEA--
    GO:0008152metabolic process ----
    GO:0019262N-acetylneuraminate catabolic process TAS--

    NPL for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NPL for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NPL

    4 HMDB Compounds for NPL    About this table
    CompoundSynonyms CAS #PubMed Ids
    N-Acetyl-D-mannosamine2-acetamido-2-deoxy-d-monnose (see all 3)3615-17-6--
    N-Acetylmannosamine2-Acetamido-2-deoxy-D-mannose (see all 3)3615-17-6--
    N-Acetylneuraminic acidSialic acid (see all 55)131-48-6--
    Pyruvic acid2-Oxopropanoate (see all 14)127-17-3--

    6 Novoseek inferred chemical compound relationships for NPL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dihydrodipicolinate 97.8 24 15686899 (3), 18077163 (2), 19919824 (2), 18937497 (2) (see all 15)
    glucosamine 6-phosphate 74.5 6 8906124 (2), 8704962 (1)
    sialic acid 60.4 14 8906124 (2), 8636957 (1), 9047371 (1), 17565178 (1) (see all 5)
    lysine 53.8 4 18077163 (1), 9165072 (1), 15686899 (1), 19236959 (1)
    pyruvate 46.7 4 8906124 (2), 15686899 (1)
    n-acetylglucosamine 44.6 4 8906124 (2), 8704962 (1)

    Search CenterWatch for drugs/clinical trials and news about NPL

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NPL gene (5 alternative transcripts): 
    NM_001200050.1  NM_001200051.1  NM_001200052.1  NM_001200056.1  NM_030769.2  

    Unigene Cluster for NPL:

    N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)
    Hs.496969  [show with all ESTs]
    Unigene Representative Sequence: NM_001200050
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000488424(uc010pnx.2 uc001gpp.4 uc009wyc.3) ENST00000460690
    ENST00000463899 ENST00000367555 ENST00000479721 ENST00000471010 ENST00000367553(uc009wyb.3 uc021pfz.1)
    ENST00000460179 ENST00000367552 ENST00000258317 ENST00000367550 ENST00000367554(uc010pny.2 uc001gpo.2)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate NPL (see all 16):
    hsa-miR-579 hsa-miR-607 hsa-miR-125a-5p hsa-miR-4251 hsa-miR-539 hsa-miR-3159 hsa-miR-877* hsa-miR-125b
    SwitchGear 3'UTR luciferase reporter plasmidNPL 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF338436.1 AK297017.1 AK301068.1 AK313225.1 AY336748.1 BC034429.1 BC042003.1 BC058003.1 
    BC125051.1 

    18 DOTS entries:

    DT.446804  DT.100740833  DT.101983110  DT.308396  DT.65286583  DT.100740832  DT.65287930  DT.121443790 
    DT.40131491  DT.429874  DT.100723419  DT.86853899  DT.95210968  DT.121443743  DT.121443763  DT.92424959 
    DT.91745141  DT.91805342 

    24/147 AceView cDNA sequences (see all 147):

    AI433869 BC034429 CA309274 N43918 BE046489 AL554919 CA396517 AI245446 
    AI142898 AI968674 CR592936 AI916625 AI032532 AL525867 BE172867 BM826308 
    BU172763 AW263057 H48512 CD366774 AI803587 AA564574 AI910695 AW183773 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for NPL (see all 10)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b
    SP1:                                      -                 -                                   -                 -                                       
    SP2:                                      -     -     -     -                                   -                 -           -     -     -               
    SP3:                                      -     -     -     -                                   -                 -           -                           
    SP4:                                      -     -     -     -                                   -     -     -     -           -                           
    SP5:                                            -     -     -                                   -                 -           -                           


    ECgene alternative splicing isoforms for NPL

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NPL expression in normal human tissues (normalized intensities)      NPL embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTCAACTGT
    NPL Expression
    About this image


    NPL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Postnatal Endothelial Cells Blood Brain Barrier
             Midbrain tegmentum
             brain/midbrain   
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Postnatal Endothelial Cells Blood Brain Barrier
             Peripheral blood-derived early endothelial progenitor cells
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Conventional Dendritic Cells II Spleen
             Bone Marrow CD105+ Cells   
     
     Blood Brain Barrier (Nervous System)
             Postnatal Endothelial Cells Blood Brain Barrier
     
     Inner Cell Mass (Early Embryonic Tissues)
             Inner Cell Mass Cells Inner Cell Mass

    See NPL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NPL

    SOURCE GeneReport for Unigene cluster: Hs.496969

    UniProtKB/Swiss-Prot: NPL_HUMAN, Q9BXD5
    Tissue specificity: Isoform 2 is expressed in placenta, liver, kidney, pancreas, spleen, thymus, ovary, small
    intestine and peripheral blood leukocyte

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for NPL gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Npl1 , 5 N-acetylneuraminate pyruvate lyase1, 5 86.2(n)1
    86.94(a)1
      1 (65.38 cM)5
    740911  NM_028749.11  NP_083025.11 
     1535030165 
    chicken
    (Gallus gallus)
    Aves NPL1 N-acetylneuraminate pyruvate lyase (dihydrodipicolinate more 72.44(n)
    71.33(a)
      429074  NM_001031560.1  NP_001026731.1 
    lizard
    (Anolis carolinensis)
    Reptilia NPL6
    N-acetylneuraminate pyruvate lyase (dihydrodipicol...
    68(a)
    1 ↔ 1
    GL343203.1(4672277-4693358)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.200482 Xenopus laevis transcribed sequence with weak similarity more 75.15(n)    BX846041.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb53b062 wufb53b06 73.16(n)   322207  CK026364.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0077001 AGAP007700-PA 46.13(n)
    31(a)
      1269533  XM_308175.4  XP_308175.3 


    ENSEMBL Gene Tree for NPL (if available)
    TreeFam Gene Tree for NPL (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NPL gene
    HOGA12  

    NPL for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NPL
    PGOHUM00000240626


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/801 SNPs in NPL are shown (see all 801)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1414843051,2
    --182756655(+) AATTGC/TAGCAA 5 -- us2k10--------
    rs1907432841,2
    --182756779(+) CTGCAC/TTGTGG 5 -- us2k10--------
    rs1504222151,2
    --182756843(+) TGGGGA/GCAAGA 5 -- us2k10--------
    rs1808877131,2
    --182756918(+) CTGCCA/GCTTAT 5 -- us2k10--------
    rs1858312721,2
    --182756946(+) CCTGCA/GGTTCA 5 -- us2k10--------
    rs109111351,2
    C,F,A--182756967(+) TTTTGT/CTGCCT 5 -- us2k110Minor allele frequency- C:0.35NA WA CSA EA 370
    rs342609061,2
    C--182757062(+) CTCTT-/CA    
       
    /CACA
    CACAC
    5 -- us2k10--------
    rs716785991,2
    C--182757063(+) CACAC-/CAACACA 5 -- us2k10--------
    rs1407555841,2
    --182757094(+) ACACA-/CCCCACC 5 -- us2k10--------
    rs600217191,2
    C--182757095(+) CACAC-/A/A   
       CACAC
    CACCC
    10 -- us2k1 cds10--------

    HapMap Linkage Disequilibrium report for NPL (182758428 - 182799519 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for NPL:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2665632CNV Deletion23128226
    esv26933CNV Loss19812545
    nsv159118CNV Loss16902084


    Human Gene Mutation Database (HGMD): NPL
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611412    OMIM disorders: --

    12 diseases for NPL:    About MalaCards
    retinal perforation    toxic optic neuropathy    language disorder    primary cutaneous amyloidosis
    endophthalmitis    amyloidosis    influenza    pneumonia
    retinitis    neuropathy    prostate cancer    prostatitis

    1 disease from the University of Copenhagen DISEASES database for NPL:
    Endocarditis

    NPL for disorders           About GeneDecksing

    Genetic Association Database (GAD): NPL

    Export disorders for NPL gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NPL gene, integrated from 9 sources (see all 31):
    (articles sorted by number of sources associating them with NPL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus. (PubMed id 11318611)1, 2, 3 Sood R....Carpten J.D. (2001)
    2. A novel splice variant of human gene NPL, mainly expressed in human liver, kidney and peripheral blood leukocyte. (PubMed id 16147865)1, 2, 9 Wu M.... Mao Y. (2005)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Metabolism of vertebrate amino sugars with N-glycolyl groups: elucidating the intracellular fate of the non-human sialic acid N- glycolylneuraminic acid. (PubMed id 22692205)2 Bergfeld A.K.... Varki A. (2012)
    6. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    7. Homology modeling and molecular dynamics study on N-acetylneuraminate lyase. (PubMed id 19057931)1 Chu H.Y....Zhang H.X. (2009)
    8. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (2007)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 80896 HGNC: 16781 AceView: NPL Ensembl:ENSG00000135838 euGenes: HUgn80896
    ECgene: NPL Kegg: 80896 H-InvDB: NPL

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NPL Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NPL gene:
    Search GeneIP for patents involving NPL

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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