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

NCKIPSD Gene

protein-coding   GIFtS: 55
GCID: GC03M048701

NCK Interacting Protein With SH3 Domain
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Aliases
for NCKIPSD gene

(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
NCK Interacting Protein With SH3 Domain1 2     WASP-Interacting SH3-Domain Protein2 3
AF3P212 3 5     90 KDa1
SPIN902 3 5     SH3 Protein Interacting With Nck1
Dia Interacting Protein1 2     DIP2
Diaphanous Protein Interacting Protein1 2     DIP12
Dia-Interacting Protein 12 3     ORF12
Wiskott-Aldrich Syndrome Protein-Interacting Protein2 3     WASLBP2
54 KDa VacA-Interacting Protein2 3     NCK-Interacting Protein With SH3 Domain2
54 KDa Vimentin-Interacting Protein2 3     SH3 Protein Interacting With Nck, 90 KDa2
90 KDa SH3 Protein Interacting With Nck2 3     AF3p213
VIP542 3     DIP-13
WISH2 3     Diaphanous Protein-Interacting Protein3
SH3 Adapter Protein SPIN902 3     

External Ids:    HGNC: 154861   Entrez Gene: 515172   Ensembl: ENSG000002136727   OMIM: 6066715   UniProtKB: Q9NZQ33   

Export aliases for NCKIPSD gene to outside databases

Previous GC identifers: GC03M048661 GC03M048675


Summaries
for NCKIPSD gene

(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 NCKIPSD Gene:
The protein encoded by this gene is localized exclusively in the cell nucleus. It plays a role in signal
transduction, and may function in the maintenance of sarcomeres and in the assembly of myofibrils into
sarcomeres. It also plays an important role in stress fiber formation. The gene is involved in therapy-related
leukemia by a chromosomal translocation t(3;11)(p21;q23) that involves this gene and the myeloid/lymphoid
leukemia gene. Alternative splicing results in multiple transcript variants of this gene. (provided by RefSeq,
Jul 2013)

GeneCards Summary for NCKIPSD Gene: 
NCKIPSD (NCK interacting protein with SH3 domain) is a protein-coding gene. Diseases associated with NCKIPSD include wiskott-aldrich syndrome, and leukemia, and among its related super-pathways are Regulation of actin dynamics for phagocytic cup formation and Immune System. GO annotations related to this gene include cytoskeletal protein binding and SH3 domain binding.

UniProtKB/Swiss-Prot: SPN90_HUMAN, Q9NZQ3
Function: Has an important role in stress fiber formation induced by active diaphanous protein homolog 1 (DRF1).
Induces microspike formation, in vivo (By similarity). In vitro, stimulates N-WASP-induced ARP2/3 complex
activation in the absence of CDC42 (By similarity). May play an important role in the maintenance of sarcomeres
and/or in the assembly of myofibrils into sarcomeres. Implicated in regulation of actin polymerization and cell
adhesion. Plays a role in angiogenesis

Gene Wiki entry for NCKIPSD Gene


Genomic Views
for NCKIPSD gene

(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_000003.11  NT_022517.18  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NCKIPSD gene promoter:
         E2F-4   E2F-3a   E2F-5   E2F-1   E2F   ATF-2   E2F-2   c-Jun   Tal-1beta   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NCKIPSD promoter sequence
   Search SABiosciences Chromatin IP Primers for NCKIPSD

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


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

Entrez Gene cytogenetic band: 3p21   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M048701:  view genomic region     (about GC identifiers)

Start:
 48,701,364 bp from pter      End:
 48,723,797 bp from pter
Size:
 22,434 bases      Orientation:
 minus strand

Proteins
for NCKIPSD gene

(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: SPN90_HUMAN, Q9NZQ3 (See protein sequence)
Recommended Name: NCK-interacting protein with SH3 domain  
Size: 722 amino acids; 78960 Da
Subunit: Associates with the intermediate filaments, vimentin and desmin. Binds the first and third SH3 domains of
NCK. Binds the proline-rich domains of N-WASP through its SH3 domain (By similarity). Similarly, binds diaphanous
protein homolog 1 (DRF1). Binds the SH3 domains of GRB2 through its proline-rich domains. Interacts with
Helicobacter pylori toxin vacA. Isoform 4 interacts with FHOD1. Interacts with FASLG. Interacts with TMIGD2
Subcellular location: Nucleus. Note=Colocalizes with DRF1 at membrane ruffles, and with Nck at Z-disks in mature
cardiac myocytes
Sequence caution: Sequence=BAG57476.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B4DFL5 Q6GU34 Q6SPF3 Q8TC10 Q9UGM8
Alternative splicing: 5 isoforms:  Q9NZQ3-1   Q9NZQ3-2   Q9NZQ3-3   Q9NZQ3-4   Q9NZQ3-5   (Found in a brain affected by Alzheimer disease. May be due to intron retention. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NCKIPSD: NX_Q9NZQ3

Explore proteomics data for NCKIPSD at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NZQ3

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

    NCKIPSD Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_057537.1  NP_909119.1  

    ENSEMBL proteins: 
     ENSP00000389059   ENSP00000294129   ENSP00000396683   ENSP00000406442   ENSP00000409675  
     ENSP00000416144   ENSP00000408588   ENSP00000416904   ENSP00000342621  
    Reactome Protein details: Q9NZQ3
    Human Recombinant Protein Products for NCKIPSD: 
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    Sino Biological Recombinant Protein for NCKIPSD
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005882intermediate filament NAS10619843
    GO:0008180colocalizes with COP9 signalosome IDA18850735

    NCKIPSD for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for NCKIPSD gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    		 2 InterPro protein domains:
     IPR018556 DUF2013
     IPR001452 SH3_domain

    Graphical View of Domain Structure for InterPro Entry Q9NZQ3

    ProtoNet protein and cluster: Q9NZQ3

    1 Blocks protein domain: IPB001452 SH3 domain signature

    UniProtKB/Swiss-Prot: SPN90_HUMAN, Q9NZQ3
    Similarity: Contains 1 SH3 domain


    NCKIPSD for domains           About GeneDecksing


    Function
    for NCKIPSD gene

    (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: SPN90_HUMAN, Q9NZQ3
    Function: Has an important role in stress fiber formation induced by active diaphanous protein homolog 1 (DRF1).
    Induces microspike formation, in vivo (By similarity). In vitro, stimulates N-WASP-induced ARP2/3 complex
    activation in the absence of CDC42 (By similarity). May play an important role in the maintenance of sarcomeres
    and/or in the assembly of myofibrils into sarcomeres. Implicated in regulation of actin polymerization and cell
    adhesion. Plays a role in angiogenesis

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15095401
    GO:0008092cytoskeletal protein binding NAS10619843
    GO:0017124SH3 domain binding IEA--
         
    NCKIPSD for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NCKIPSD:
     Synthetic lethal with Ras 

         5 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Nckipsd):
     cellular  growth/size  nervous system  no phenotypic analysis  reproductive system 

    NCKIPSD for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for NCKIPSD: Nckipsdtm1Wkso Nckipsdtm1.2Toft

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NCKIPSD 
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    hsa-miR-4254 hsa-miR-1321 hsa-miR-15a hsa-miR-301a hsa-miR-424 hsa-miR-124 hsa-miR-637 hsa-miR-3116
    SwitchGear 3'UTR luciferase reporter plasmid: NCKIPSD 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Pathways & Interactions
    for NCKIPSD gene

    (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 NCKIPSD About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Fcgamma receptor (FCGR) dependent phagocytosis
    		Regulation of actin dynamics for phagocytic cup formation0.80
    		Fcgamma receptor (FCGR) dependent phagocytosis0.80
    2Immune System
    		Immune System0.56
    		Innate Immune System0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    4        Reactome Pathways for NCKIPSD
        Regulation of actin dynamics for phagocytic cup formation
    Fcgamma receptor (FCGR) dependent phagocytosis
    Immune System
    Innate Immune System



    NCKIPSD for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NCKIPSD

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

    5/37 Interacting proteins for NCKIPSD (Q9NZQ32, 3 ENSP000002941294) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005192, 3, ENSP000003614234MINT-8110791 I2D: score=3 STRING: ENSP00000361423
    BAIAP2Q9UQB82, 3, ENSP000003163384MINT-7219383 I2D: score=6 STRING: ENSP00000316338
    PALLDQ8WX932, 3, ENSP000002615094MINT-8109267 I2D: score=1 STRING: ENSP00000261509
    RAC1P630002, 3, ENSP000003484614MINT-7219402 I2D: score=1 STRING: ENSP00000348461
    FYNP062412, 3, ENSP000003576564MINT-8111559 I2D: score=3 STRING: ENSP00000357656
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006607NLS-bearing substrate import into nucleus TAS10648423
    GO:0007010cytoskeleton organization NAS10619843
    GO:0007165signal transduction TAS10648423
    GO:0038096Fc-gamma receptor signaling pathway involved in phagocytosis TAS--
    GO:0045087innate immune response TAS--

    NCKIPSD for ontologies           About GeneDecksing



    Drugs & Compounds
    for NCKIPSD gene

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

    Browse Tocris compounds for NCKIPSD (SPN90)

    Search CenterWatch for drugs/clinical trials and news about NCKIPSD / SPN90

    Transcripts
    for NCKIPSD gene

    (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 NCKIPSD gene (2 alternative transcripts): 
    NM_016453.3  NM_184231.2  

    Unigene Cluster for NCKIPSD:

    NCK interacting protein with SH3 domain
    Hs.655006  [show with all ESTs]
    Unigene Representative Sequence: AJ242655
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000416649 ENST00000294129(uc003cun.3 uc003cum.3) ENST00000413374
    ENST00000470006 ENST00000415281 ENST00000439518(uc010hkh.2) ENST00000454134
    ENST00000453349 ENST00000426678 ENST00000341520

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    hsa-miR-4254 hsa-miR-1321 hsa-miR-15a hsa-miR-301a hsa-miR-424 hsa-miR-124 hsa-miR-637 hsa-miR-3116
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    Inhib. RNA
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    Additional mRNA sequence: 

    AF178432.1 AF303581.1 AJ242655.2 AK294151.1 AL049430.1 AY453794.1 BC006255.2 BC016052.1 
    BC026280.1 

    9 DOTS entries:

    DT.442329  DT.100781728  DT.305127  DT.40271098  DT.97846133  DT.100781726  DT.99950774  DT.95075914 
    DT.92430019 

    1 AceView cDNA sequence:

    BF894800 

    GeneLoc Exon Structure


    Expression
    for NCKIPSD gene

    (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

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


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

    SOURCE GeneReport for Unigene cluster: Hs.655006

    UniProtKB/Swiss-Prot: SPN90_HUMAN, Q9NZQ3
    Tissue specificity: Highest expression in heart, brain, skeletal muscle, kidney and liver. Lower levels in
    placenta, lung, small intestine and leukocytes. Weak expression in colon, thymus and spleen

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    In Situ
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    Orthologs
    for NCKIPSD gene

    (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 NCKIPSD gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Nckipsd1 , 5 NCK interacting protein with SH3 domain1, 5 87.11(n)1
    89.36(a)1    		   9 (59.63 cM)5
    809871  NM_030729.41  NP_109654.21 
     1088083805 
    chicken
    (Gallus gallus)    		 Aves NCKIPSD1 NCK interacting protein with SH3 domain 72.39(n)
    71.82(a)    		   770439  XM_001233773.2  XP_001233774.2 
    lizard
    (Anolis carolinensis)    		 Reptilia NCKIPSD6
    		 NCK interacting protein with SH3 domain
    		 65(a)
    		 1 ↔ 1
    		 2(164066029-164223893)
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC1000039861 NCK-interacting protein with SH3 domain-like 62.22(n)
    58.97(a)    		   100003986  XM_002666097.2  XP_002666143.2 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG22581 CG2258 46.39(n)
    34.37(a)    		   31729  NM_132211.1  NP_572439.1 


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

    Paralogs
    for NCKIPSD gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NCKIPSD gene
    5 SIMAP similar genes for NCKIPSD using alignment to 7 protein entries:     SPN90_HUMAN (see all proteins):
    FNBP1L    GRAP    GRAPL    TXK    FYN

    NCKIPSD for paralogs           About GeneDecksing



    Genomic Variants
    for NCKIPSD gene

    (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

    10/380 SNPs in NCKIPSD are shown (see all 380)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1923770021,2
    		--48710784(+) ATCACC/TGGAAC 2 -- ds50010--------
    rs343832231,2
    		C--48710839(+) TACCAAA/-AAAAA 2 -- ds50011Minor allele frequency- -:0.00NA 2
    rs738304731,2
    		C,F--48711199(+) AAGCTG/ACAGTG 2 -- ds50013Minor allele frequency- A:0.07WA CSA 121
    rs1846129271,2
    		--48711414(+) CATGAA/GGCTCC 2 -- ut310--------
    rs1158647991,2
    		C,F--48711627(+) GGATAC/TAGACC 2 -- ut311Minor allele frequency- T:0.04WA 118
    rs1480421411,2
    		--48711634(+) GACCAA/GGAGGG 2 -- ut310--------
    rs115457551,2
    		C--48711659(-) GGCTGG/TACCAG 2 -- ut312Minor allele frequency- T:0.00NA 4
    rs1995339941,2
    		--48712104(+) GGTCGA/GGTAGC 4 P L mis10--------
    rs178555161,2,4
    		H--48712167(+) AGAGGT/GACTCC 4 /Y /S mis14Minor allele frequency- G:0.00NS EA 420
    rs1875277771,2
    		C--48712172(+) TACTCC/TATGCG 4 I M mis10--------

    HapMap Linkage Disequilibrium report for NCKIPSD (48701364 - 48723797 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for NCKIPSD:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv876762CNV Loss21882294
    nsv834685CNV Loss17160897
    nsv523981CNV Loss19592680
    nsv818138CNV Gain17921354

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    Disorders / Diseases
    for NCKIPSD gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    		 OMIM gene information: 606671    OMIM disorders: --

    UniProtKB/Swiss-Prot: SPN90_HUMAN, Q9NZQ3
  • Note=A chromosomal aberration involving NCKIPSD/AF3p21 is found in therapy-related leukemia.
    Translocation t(3;11)(p21;q23) with KMT2A/MLL1

    • 6 diseases for NCKIPSD:    About MalaCards
    wiskott-aldrich syndrome    leukemia    pancreatic cancer    alzheimer's disease
    pancreatitis    neuronitis


    NCKIPSD for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    2 Novoseek inferred disease relationships for NCKIPSD gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    wiskott-aldrich syndrome 70.8 2 12853106 (1), 11157975 (1)
    leukemia 33.7 6 11241789 (2), 11697487 (2), 10648423 (1)


    Export disorders for NCKIPSD gene to outside databases

    Publications
    for NCKIPSD gene

    (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 NCKIPSD gene, integrated from 9 sources (see all 34):
    (articles sorted by number of sources associating them with NCKIPSD)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel SH3 protein encoded by the AF3p21 gene is fused to the mixed lineage leukemia protein in a therapy-related leukemia with t(3;11)(p21;q23). (PubMed id 10648423)1, 2, 3, 9 Sano K.... Nakamura H. (2000)
    2. The VacA toxin of Helicobacter pylori identifies a new intermediate filament-interacting protein. (PubMed id 10619843)1, 2, 3 de Bernard M....Montecucco C. (2000)
    3. Genomic organization, tissue expression and cellular localization of AF3p21, a fusion partner of MLL in therapy-related leukemia. (PubMed id 11241789)1, 2, 9 Hayakawa A.... Sano K. (2001)
    4. SPIN90 (SH3 protein interacting with Nck, 90 kDa), an adapter protein that is developmentally regulated during cardiac myocyte differentiation. (PubMed id 11278500)1, 2, 9 Lim C.S.... Song W.K. (2001)
    5. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PubMed id 19807924)1, 2 Voss M....Janssen O. (2009)
    6. Identification of FHOD1-binding proteins and mechanisms of FHOD1-regulated actin dynamics. (PubMed id 15095401)1, 2 Westendorf J.J. and Koka S. (2004)
    7. mDia-interacting protein acts downstream of rho-mDia and modifies src activation and stress fiber formation. (PubMed id 11509578)1, 2 Satoh S. and Tominaga T. (2001)
    8. A novel neural Wiskott-Aldrich syndrome protein (N-WASP) binding protein, WISH, induces Arp2/3 complex activation independent of Cdc42. (PubMed id 11157975)1, 9 Fukuoka M....Takenawa T. (2001)
    9. Dia-interacting protein modulates formin-mediated actin assembly at the cell cortex. (PubMed id 17398099)1, 9 Eisenmann K.M....Alberts A.S. (2007)
    10. SPIN90 phosphorylation modulates spine structure and s ynaptic function. (PubMed id 23342115)1 Cho I.H....Song W.K. (2013)

    External Searches for NCKIPSD gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    Genome Databases showing NCKIPSD gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51517 HGNC: 15486 AceView: NCKIPSD Ensembl:ENSG00000213672 euGenes: HUgn51517
    ECgene: NCKIPSD H-InvDB: NCKIPSD

    Other Databases showing NCKIPSD gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NCKIPSD gene

    (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 NCKIPSD Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NCKIPSD Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for NCKIPSD gene

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

    GeneCards and IP:
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