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NUP188 Gene

protein-coding   GIFtS: 53
GCID: GC09P131709

Nucleoporin 188kDa

(Previous name: KIAA0169)
(Previous symbol: KIAA0169)
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)
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Aliases
Nucleoporin 188kDa1 2
KIAA01691 2 3
hNup1882 3
Nucleoporin NUP188 Homolog2
KIAA10695

External Ids:    HGNC: 178591   Entrez Gene: 235112   Ensembl: ENSG000000953197   OMIM: 6155875   UniProtKB: Q5SRE53   

Export aliases for NUP188 gene to outside databases

Previous GC identifers: GC09U900613 GC09P128789 GC09P130749 GC09P101317


(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 NUP188 Gene:
The nuclear pore complex (NPC) is found on the nuclear envelope and forms a gateway that regulates the flow of
proteins and RNAs between the cytoplasm and nucleoplasm. The NPC is comprised of approximately 30 distinct
proteins collectively known as nucleoporins. Nucleoporins are pore-complex-specific glycoproteins which often
have cytoplasmically oriented O-linked N-acetylglucosamine residues and numerous repeats of the pentapeptide
sequence XFXFG. However, the nucleoporin protein encoded by this gene does not contain the typical FG repeat
sequences found in most vertebrate nucleoporins. This nucleoporin is thought to form part of the scaffold for the
central channel of the nuclear pore. (provided by RefSeq, Jan 2013)

GeneCards Summary for NUP188 Gene:
NUP188 (nucleoporin 188kDa) is a protein-coding gene. Diseases associated with NUP188 include influenza, and malaria. An important paralog of this gene is ENSG00000251184.

UniProtKB/Swiss-Prot: NU188_HUMAN, Q5SRE5
Function: May function as a component of the nuclear pore complex (NPC)




(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:
NC_000009.12  NC_018920.2  NT_008470.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the NUP188 gene promoter:
         p300   Pax-2   NF-AT   FOXL1   NF-AT4   POU2F1   NF-AT2   POU2F1a   NF-AT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNUP188 promoter sequence
   Search Chromatin IP Primers for NUP188

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NUP188


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

Entrez Gene cytogenetic band: 9q34.11   Ensembl cytogenetic band:  9q34.11   HGNC cytogenetic band: 9q34.13

NUP188 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NUP188 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P131709:  view genomic region     (about GC identifiers)

Start:
131,709,977 bp from pter      End:
131,769,375 bp from pter
Size:
59,399 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NU188_HUMAN, Q5SRE5 (See protein sequence)
Recommended Name: Nucleoporin NUP188 homolog  
Size: 1749 amino acids; 196043 Da
Sequence caution: Sequence=CAD97835.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q14675 Q2TA87 Q7Z3K8 Q8IWF1
Alternative splicing: 2 isoforms:  Q5SRE5-1   Q5SRE5-2   

Explore the universe of human proteins at neXtProt for NUP188: NX_Q5SRE5

Explore proteomics data for NUP188 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys38, Lys344, Lys470, Lys479, Lys481, Lys500, Lys720, Lys812, Lys876, Lys1409,
                                 Lys1496, Lys1684, Lys1727
  • Modification sites at PhosphoSitePlus

  • See NUP188 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_056169.1  
    ENSEMBL proteins: 
     ENSP00000361658  
    Reactome Protein details: Q5SRE5

    NUP188 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for NUP188

    NUP188 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    NUP188 Assay Products:

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    Cloud-Clone Corp. ELISAs for NUP188
    Cloud-Clone Corp. CLIAs for NUP188


    (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:
     IPR018864 Nucleoporin_Nup188
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q5SRE5

    ProtoNet protein and cluster: Q5SRE5


    NUP188 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NU188_HUMAN, Q5SRE5
    Function: May function as a component of the nuclear pore complex (NPC)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
         
    NUP188 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NUP188
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NUP188
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NUP188

    miRNA
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    miRTarBase miRNAs that target NUP188:
    hsa-mir-93-5p (MIRT048851), hsa-mir-20a-5p (MIRT050586), hsa-mir-31-5p (MIRT049874), hsa-mir-324-5p (MIRT043097)

    Block miRNA regulation of human, mouse, rat NUP188 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate NUP188:
    hsa-miR-140-3p hsa-miR-548a-3p hsa-miR-1323 hsa-miR-889 hsa-miR-3121-3p hsa-miR-548e hsa-miR-1267 hsa-miR-548o
    SwitchGear 3'UTR luciferase reporter plasmidNUP188 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for NUP188
    Predesigned siRNA for gene silencing in human, mouse, rat NUP188

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: NUP188 (NM_015354)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NUP188
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NUP188

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NUP188


    (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
    NU188_HUMAN, Q5SRE5: Nucleus, nuclear pore complex (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005635nuclear envelope TAS--
    GO:0005643nuclear pore IEA--

    NUP188 for ontologies           About GeneDecksing


    (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 NUP188 About   (see all 14)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Regulation of Glucokinase by Glucokinase Regulatory Protein
    Transport of the SLBP Dependant Mature mRNA0.92
    Export of Viral Ribonucleoproteins from Nucleus0.88
    Transport of Mature mRNAs Derived from Intronless Transcripts0.92
    Transport of Ribonucleoproteins into the Host Nucleus0.88
    Transport of the SLBP independent Mature mRNA0.91
    Regulation of Glucokinase by Glucokinase Regulatory Protein0.87
    Nuclear import of Rev protein0.91
    Glucose transport0.87
    2HIV Life Cycle
    HIV Life Cycle0.91
    HIV Infection0.62
    Late Phase of HIV Life Cycle0.91
    Host Interactions of HIV factors0.60
    3Interferon Signaling
    Interferon Signaling0.59
    ISG15 antiviral mechanism0.42
    Cytokine Signaling in Immune system0.59
    Antiviral mechanism by IFN-stimulated genes0.42
    4Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    5Transport of Mature Transcript to Cytoplasm
    Transport of Mature Transcript to Cytoplasm0.93
    Transport of Mature mRNA derived from an Intron-Containing Transcript0.93

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    Selected Reactome Pathways for NUP188 (see all 6)
        Rev-mediated nuclear export of HIV RNA
    Regulation of Glucokinase by Glucokinase Regulatory Protein
    Nuclear import of Rev protein
    Nuclear Pore Complex (NPC) Disassembly
    Vpr-mediated nuclear import of PICs


    1 Kegg Pathway  (Kegg details for NUP188):
        RNA transport


    NUP188 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NUP188
    Interactions:

        Search GeneGlobe Interaction Network for NUP188

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NUP188 (Q5SRE53 ENSP000003616584) via UniProtKB, MINT, STRING, and/or I2D (see all 76)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTP4A3O753653, ENSP000003322744I2D: score=2 STRING: ENSP00000332274
    SLX4Q8IY923, ENSP000002940084I2D: score=2 STRING: ENSP00000294008
    CHMP243863, ENSP000003503864I2D: score=1 STRING: ENSP00000350386
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    RAE1P784063, ENSP000003602864I2D: score=1 STRING: ENSP00000360286
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0005975carbohydrate metabolic process TAS--
    GO:0007077mitotic nuclear envelope disassembly TAS--
    GO:0008645hexose transport TAS--
    GO:0010827regulation of glucose transport TAS--

    NUP188 for ontologies           About GeneDecksing



    (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 NUP188 (NU188)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NUP188 gene: 
    NM_015354.2  

    Unigene Cluster for NUP188:

    Nucleoporin 188kDa
    Hs.308340  [show with all ESTs]
    Unigene Representative Sequence: NM_015354
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372577(uc004bws.1) ENST00000491990 ENST00000550219 ENST00000464729
    ENST00000465344 ENST00000477069(uc004bwu.3) ENST00000491502 ENST00000467044
    ENST00000485158 ENST00000495726 ENST00000487952
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8 qRT-PCR Assays for microRNAs that regulate NUP188:
    hsa-miR-140-3p hsa-miR-548a-3p hsa-miR-1323 hsa-miR-889 hsa-miR-3121-3p hsa-miR-548e hsa-miR-1267 hsa-miR-548o
    SwitchGear 3'UTR luciferase reporter plasmidNUP188 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for NUP188
    Predesigned siRNA for gene silencing in human, mouse, rat NUP188
    Clone
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    OriGene clones in human, mouse for NUP188 (see all 5)
    OriGene ORF clones in mouse, rat for NUP188
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NUP188 (NM_015354)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NUP188
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NUP188
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for NUP188
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NUP188
      QuantiTect SYBR Green Assays in human, mouse, rat NUP188
      QuantiFast Probe-based Assays in human, mouse, rat NUP188

    Additional mRNA sequence: 

    AK025292.1 BC005407.1 BC040352.1 BC111045.1 BX537774.1 D79991.1 DQ656057.2 

    24 DOTS entries:

    DT.100789340  DT.91999929  DT.451800  DT.95367701  DT.91859080  DT.453134  DT.91883544  DT.91718341 
    DT.121164427  DT.95166310  DT.75117762  DT.100789342  DT.100894864  DT.95214869  DT.100789338  DT.121164473 
    DT.121164474  DT.40123767  DT.91655264  DT.91693550  DT.91818681  DT.91871611  DT.91920996  DT.100789341 

    Selected AceView cDNA sequences (see all 431):

    BF058618 BM561059 AI082021 BU196907 BG766997 BQ063289 AL046732 AU131175 
    BG034455 BM976201 BG767117 CF138219 BQ643463 BC005407 BM907176 AW337913 
    BC040352 CD369024 AU143089 BQ058021 BM782516 BE888084 BQ962015 BG761675 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NUP188 (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29a · 29b ^ 30a · 30b ^ 31 ^ 32a · 32b ^ 33a · 33b ^ 34 ^ 35 ^ 36 ^ 37 ^ 38a · 38b ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44
    SP1:        -                                   -                             -                                         -                                       
    SP2:        -                                   -                             -                                                                                 
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:  -     -                                                                                                                                                   


    ECgene alternative splicing isoforms for NUP188

    (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)
    About This Section

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    NUP188 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGAGCCGAG
    NUP188 Expression
    About this image

    NUP188 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NUP188 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.308340
        Custom PCR Arrays for NUP188
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NUP188

    (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 NUP188 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nup1881 , 5 nucleoporin 1881, 5 87.57(n)1
    94.28(a)1
      2 (21.49 cM)5
    2276991  NM_198304.21  NP_938046.21 
     302863975 
    chicken
    (Gallus gallus)
    Aves NUP1881 nucleoporin 188kDa 76.59(n)
    85.93(a)
      417198  NM_001030690.1  NP_001025861.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    74(a)
    1 → many
    AAWZ02037334(220-15822)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.209422 Xenopus laevis transcribed sequence 76.4(n)    BU152763.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufk95d022 Transcribed sequences 75.63(n)    AL915677.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG87716
    --
    19(a)
    1 → many
    2R(8567472-8573670)


    ENSEMBL Gene Tree for NUP188 (if available)
    TreeFam Gene Tree for NUP188 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NUP188 gene
    ENSG000002511842  

    NUP188 for paralogs           About GeneDecksing



    (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)
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    Selected SNPs for NUP188 (see all 1508)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs357052531,2
    C--131712199(+) GCCACT/-TTTTT 1 -- int11Minor allele frequency- -:0.50NA 2
    rs1130491511,2
    C--131718266(+) TTACCCTTT/-  
            
    CTAAG
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1996726681,2
    C--131720987(+) TATCAA/GGAGGT 1 -- us2k10--------
    rs1403508811,2
    C--131720990(+) CAGGAA/GGTAGA 1 -- us2k10--------
    rs1837354151,2
    C--131721072(+) ATCCAA/GGCATA 1 -- us2k10--------
    rs1452927601,2
    C,F--131721103(+) CACTGT/CCAAAG 1 -- us2k12Minor allele frequency- C:0.00NA EU 5875
    rs1476309771,2
    C,F--131721134(+) AATGAT/CCTGCG 1 -- us2k12Minor allele frequency- C:0.00NA EU 5875
    rs2010276071,2
    C--131721138(+) ATCTGC/TGCAAA 1 -- us2k10--------
    rs1442099261,2
    C--131721146(+) AAATAC/TAGATG 1 -- us2k10--------
    rs1489300431,2
    C,F--131721190(+) GCCAGC/TGGATC 1 -- us2k12Minor allele frequency- T:0.00NA EU 5875

    HapMap Linkage Disequilibrium report for NUP188 (131709977 - 131769375 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for NUP188:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2739079CNV Deletion23290073
    nsv509323CNV Insertion20534489
    dgv8297n71CNV Loss21882294
    nsv831729CNV Loss17160897
    nsv893902CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing NUP188:
    Birth Defects
    SeqTarget long-range PCR primers for resequencing NUP188
    DNA2.0 Custom Variant and Variant Library Synthesis for NUP188

    (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.)
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    OMIM gene information: 615587    OMIM disorders: --

    UniProtKB/Swiss-Prot: NU188_HUMAN, Q5SRE5
  • Note=Copy number variations of NUP188 gene may be a cause of heterotaxy, a congenital heart disease
    resulting from abnormalities in left-right (LR) body patterning (PubMed:21282601)

  • 2 diseases for NUP188:    About MalaCards
    influenza    malaria


    NUP188 for disorders           About GeneDecksing


    Export disorders for NUP188 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 NUP188 gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with NUP188)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a new vertebrate nucleoporin, Nup188, with the use of a novel organelle trap assay. (PubMed id 11029043)1, 2, 3 Miller B.R.... Forbes D.J. (Mol. Biol. Cell 2000)
    2. Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1. (PubMed id 8724849)1, 2 Nagase T.... Nomura N. (DNA Res. 1996)
    3. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    4. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    6. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    7. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    8. Proteomic analysis of I+4I^1 integrin adhesion complexes reveals I+-subunit-dependent protein recruitment. (PubMed id 22623428)1 Byron A....Humphries M.J. (Proteomics 2012)
    9. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)
    10. Proteome-wide identification of ubiquitylation sites by conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (J. Proteome Res. 2012)

    (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: 23511 HGNC: 17859 AceView: NUP188 Ensembl:ENSG00000095319 euGenes: HUgn23511
    ECgene: NUP188 Kegg: 23511 H-InvDB: NUP188

    (According to HUGE)
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    HUGE: KIAA0169 KIAA1069

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NUP188 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 NUP188 gene:
    Search GeneIP for patents involving NUP188

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



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