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NPL Gene

protein-coding   GIFtS: 57
GCID: GC01P182758

N-Acetylneuraminate Pyruvate Lyase (Dihydrodipicolinate...

(Previous name: chromosome 1 open reading frame 13)
(Previous symbol: C1orf13)
  Search for NPL
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   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 Chromatin IP Primers for NPL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NPL_HUMAN, Q9BXD5 (See protein sequence)
Recommended Name: N-acetylneuraminate lyase  
Size: 320 amino acids; 35163 Da
Subunit: Homotetramer (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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for NPL (Q9BXD5) (see all 6)
     PMGPPRLPL  KFSDTDLLD  GAVGSTYNYLG  AEAKLKSLDFLS 


    See NPL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  
    Reactome Protein details: Q9BXD5

    NPL Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for NPL

     
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    Search eBioscience for ELISAs for NPL 


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


    Find genes that share domains with NPL           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008747N-acetylneuraminate lyase activity ISS--
    GO:0016829lyase activity ----
         
    Find genes that share ontologies with NPL           About GenesLikeMe


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

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

    Find genes that share phenotypes with NPL           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NPL
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NPL
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    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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    Predesigned siRNA for gene silencing in human, mouse, rat NPL

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NPL_HUMAN, Q9BXD5: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1
    vacuole1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    Find genes that share ontologies with NPL           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for NPL About    
    See pathways by source

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


    Find genes that share SuperPaths with NPL           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for NPL
        Sialic acid metabolism


    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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NPL
    Interactions:

        Search GeneGlobe Interaction Network for NPL

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

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

    InteractantInteraction Details
    GeneCardExternal ID(s)
    GNEENSP000003798394STRING: ENSP00000379839
    NANSENSP000002104444STRING: ENSP00000210444
    RENBPENSP000003773034STRING: ENSP00000377303
    PAICSENSP000003825954STRING: ENSP00000382595
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

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

    Find genes that share ontologies with NPL           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with NPL           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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)

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    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
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    GenScript: all cDNA clones in your preferred vector (see all 2): NPL (NM_001005335)
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      QuantiTect SYBR Green Assays in human, mouse, rat NPL
      QuantiFast Probe-based Assays in human, mouse, rat NPL

    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 

    Selected AceView cDNA sequences (see all 147):

    AA564574 CR592936 BE046489 AI142898 AF338436 BE551607 AL525867 AL554919 
    BU172763 AA233620 BM826308 AI245446 AI694448 AI942375 AW263057 N43918 
    CA396517 BM989844 AI433869 AI032532 BC034429 BC058003 AW183773 AI910695 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NPL expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Mature Endothelial Cells Blood Brain Barrier
             Midbrain tegmentum
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Erythroblasts Hematopoietic Bone Marrow
     
     Inner Cell Mass (Early Embryonic Tissues)
             Inner Cell Mass Cells Inner Cell Mass
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Endothelium (Cardiovascular System)
             Mature Endothelial Cells Blood Brain Barrier
    NPL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NPL Protein Expression

    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for NPL gene from Selected 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_001031560.2  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 AgaP_AGAP007700 46.08(n)
    30.88(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)
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    Paralogs for NPL gene
    HOGA12  

    Find genes that share paralogs with NPL           About GenesLikeMe


    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for NPL (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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NPL
    DNA2.0 Custom Variant and Variant Library Synthesis for NPL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611412    OMIM disorders: --

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

    Find genes that share disorders with NPL           About GenesLikeMe

    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)
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    PubMed articles for NPL gene, integrated from 10 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. (Genomics 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. (DNA Seq. 2005)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 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. (Genome Res. 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. (J. Biol. Chem. 2012)
    6. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    7. Homology modeling and molecular dynamics study on N-acetylneuraminate lyase. (PubMed id 19057931)1 Chu H.Y....Zhang H.X. (J Mol Model 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. (BMC Med. Genet. 2007)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    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)
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    Entrez Gene: 80896 HGNC: 16781 AceView: NPL Ensembl:ENSG00000135838 euGenes: HUgn80896
    ECgene: NPL Kegg: 80896 H-InvDB: NPL

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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