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NCKAP1 Gene

protein-coding   GIFtS: 62
GCID: GC02M183789

NCK-Associated Protein 1

  See NCKAP1-related disease
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
NCK-Associated Protein 11 2     p125Nap12 3
NAP12 3 5     NAP1252
Membrane-Associated Protein HEM-22 3     KIAA05873
HEM22 3     NAP 13

External Ids:    HGNC: 76661   Entrez Gene: 107872   Ensembl: ENSG000000616767   OMIM: 6048915   UniProtKB: Q9Y2A73   

Export aliases for NCKAP1 gene to outside databases

Previous GC identifers: GC02M181996 GC02M182472 GC02M183753 GC02M183992 GC02M183615 GC02M183497 GC02M175648


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for NCKAP1 Gene:
NCKAP1 (NCK-associated protein 1) is a protein-coding gene. Diseases associated with NCKAP1 include nance-horan syndrome. An important paralog of this gene is NCKAP1L.

UniProtKB/Swiss-Prot: NCKP1_HUMAN, Q9Y2A7
Function: Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin
filament reorganization via its interaction with the Arp2/3 complex. Actin remodeling activity is regulated by
RAC1

Gene Wiki entry for NCKAP1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NCKAP1 gene promoter:
         STAT1   LHX3b/Lhx3b   FOXF2   AML1a   STAT1alpha   GATA-2   AREB6   S8   LHX3a/Lhx3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 10): NCKAP1 promoter sequence
   Search Chromatin IP Primers for NCKAP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NCKAP1


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

Entrez Gene cytogenetic band: 2q32   Ensembl cytogenetic band:  2q32.1   HGNC cytogenetic band: 2q32

NCKAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NCKAP1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M183789:  view genomic region     (about GC identifiers)

Start:
183,773,843 bp from pter      End:
183,903,586 bp from pter
Size:
129,744 bases      Orientation:
minus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: NCKP1_HUMAN, Q9Y2A7 (See protein sequence)
Recommended Name: Nck-associated protein 1  
Size: 1128 amino acids; 128790 Da
Subunit: Component of the WAVE1 complex composed of ABI2, CYFIP1 or CYFIP2, BRK1, NCKAP1 and WASF1/WAVE1. Within
the complex, a heterdimer containing NCKAP1 and CYFIP1 interacts with a heterotrimer formed by WAVE1, ABI2 and
BRK1. Component of the WAVE2 complex composed of ABI1, CYFIP1/SRA1, NCKAP1/NAP1 and WASF2/WAVE2. CYFIP2 binds to
activated RAC1 which causes the complex to dissociate, releasing activated WASF1. The complex can also be
activated by NCK1. Associates preferentially with the first SH3 domain of NCK. Interacts with NYAP1, NYAP2 and
MYO16 (By similarity)
Sequence caution: Sequence=BAA25513.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for NCKAP1:
3P8C (3D)    
Secondary accessions: O60329 Q53QN5 Q53S94 Q53Y35
Alternative splicing: 2 isoforms:  Q9Y2A7-1   Q9Y2A7-2   

Explore the universe of human proteins at neXtProt for NCKAP1: NX_Q9Y2A7

Explore proteomics data for NCKAP1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys16, Lys58, Lys895
  • Modification sites at PhosphoSitePlus

  • See NCKAP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_038464.1  NP_995314.1  

    ENSEMBL proteins: 
     ENSP00000355348   ENSP00000354251  
    Reactome Protein details: Q9Y2A7

    NCKAP1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for NCKAP1

     
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    antibodies-online proteins for NCKAP1 (4 products) 

     
    antibodies-online peptides for NCKAP1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR019137 Nck-associated_protein-1

    Graphical View of Domain Structure for InterPro Entry Q9Y2A7

    ProtoNet protein and cluster: Q9Y2A7

    UniProtKB/Swiss-Prot: NCKP1_HUMAN, Q9Y2A7
    Similarity: Belongs to the HEM-1/HEM-2 family


    Find genes that share domains with NCKAP1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: NCKP1_HUMAN, Q9Y2A7
    Function: Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin
    filament reorganization via its interaction with the Arp2/3 complex. Actin remodeling activity is regulated by
    RAC1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11418237
    GO:0032403protein complex binding IDA18560548
    GO:0048365contributes to Rac GTPase binding IDA--
         
    Find genes that share ontologies with NCKAP1           About GenesLikeMe


    Phenotypes:
         7 GenomeRNAi human phenotypes for NCKAP1:
     Decreased Salmonella enterica   Decreased Salmonella enterica   Decreased Salmonella enterica   Decreased Salmonella enterica  
     Decreased Salmonella enterica   Decreased Salmonella-containin  Synthetic lethal with Ras 

         6 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Nckap1):
     cardiovascular system  cellular  digestive/alimentary  embryogenesis  mortality/aging 
     nervous system 

    Find genes that share phenotypes with NCKAP1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for NCKAP1

    miRNA
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    miRTarBase miRNAs that target NCKAP1:
    hsa-mir-30a-5p (MIRT028458), hsa-mir-142-3p (MIRT021593), hsa-mir-18b-5p (MIRT042408), hsa-mir-132-3p (MIRT045845), hsa-mir-155-5p (MIRT020619)

    Block miRNA regulation of human, mouse, rat NCKAP1 using miScript Target Protectors
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    hsa-miR-3163 hsa-miR-140-5p hsa-miR-365 hsa-miR-34c-3p hsa-miR-607 hsa-miR-4255 hsa-miR-551b* hsa-miR-4282
    SwitchGear 3'UTR luciferase reporter plasmidNCKAP1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NCKAP1

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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
    NCKP1_HUMAN, Q9Y2A7: Cell membrane; Single-pass membrane protein; Cytoplasmic side (By similarity). Cell
    projection, lamellipodium membrane; Single-pass membrane protein; Cytoplasmic side (By similarity). Note=At the
    interface between the lamellipodial actin meshwork and the membrane (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol4
    cytoskeleton2
    endoplasmic reticulum1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0016021integral component of membrane IEA--
    GO:0030027lamellipodium ----
    GO:0031209SCAR complex IDA--
    GO:0031258lamellipodium membrane IEA--

    Find genes that share ontologies with NCKAP1           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 NCKAP1 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57
    Regulation of Actin Cytoskeleton0.57
    2Fcgamma receptor (FCGR) dependent phagocytosis
    Regulation of actin dynamics for phagocytic cup formation0.77
    Fcgamma receptor (FCGR) dependent phagocytosis0.77
    3Apoptotic Pathways in Synovial Fibroblasts
    Rac1 Pathway0.65
    4G protein signaling RAC1 in cellular process
    G protein signaling RAC1 in cellular process0.37
    5CDC42 signaling events
    RAC1 signaling pathway0.34


    Find genes that share SuperPaths with NCKAP1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for NCKAP1
        Rac1 Pathway

    1 GeneGo (Thomson Reuters) Pathway for NCKAP1
        G-protein signaling RAC1 in cellular process

    Selected BioSystems Pathways for NCKAP1 (see all 6)
        Diurnally regulated genes with circadian orthologs
    Regulation of Actin Cytoskeleton
    E-cadherin signaling in the nascent adherens junction
    Stabilization and expansion of the E-cadherin adherens junction
    ErbB1 downstream signaling

    1 Reactome Pathway for NCKAP1
        Regulation of actin dynamics for phagocytic cup formation


    1 Kegg Pathway  (Kegg details for NCKAP1):
        Regulation of actin cytoskeleton

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NCKAP1
    Interactions:

        GeneGlobe Interaction Network for NCKAP1

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

    Selected Interacting proteins for NCKAP1 (Q9Y2A71, 2, 3 ENSP000003542514) via UniProtKB, MINT, STRING, and/or I2D (see all 71)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABI1Q8IZP01, 2, 3, ENSP000003653124EBI-389845,EBI-375446 MINT-45990 MINT-45997 MINT-45983 I2D: score=6 STRING: ENSP00000365312
    YWHABP319462, 3, ENSP000003001614MINT-50942 I2D: score=4 STRING: ENSP00000300161
    GAS7O608612, 3, ENSP000003226084MINT-72920 I2D: score=3 STRING: ENSP00000322608
    WASF2Q9Y6W52, 3, ENSP000003962114MINT-45986 I2D: score=2 STRING: ENSP00000396211
    CYFIP1Q7L5761, 2, 3, ENSP000003245494EBI-389845,EBI-1048143 MINT-8307391 I2D: score=2 STRING: ENSP00000324549
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 27):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0001756somitogenesis IEA--
    GO:0001843neural tube closure IEA--
    GO:0006915apoptotic process TAS10673335
    GO:0007354zygotic determination of anterior/posterior axis, embryo IEA--

    Find genes that share ontologies with NCKAP1           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 NCKAP1 (NCKP1)



    (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 NCKAP1 gene (2 alternative transcripts): 
    NM_013436.4  NM_205842.2  

    Unigene Cluster for NCKAP1:

    NCK-associated protein 1
    Hs.603732  [show with all ESTs]
    Unigene Representative Sequence: AB011159
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361354 ENST00000360982(uc002upb.3 uc002upc.3) ENST00000477988
    ENST00000478449 ENST00000471640 ENST00000492058 ENST00000493359 ENST00000495619

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    Selected qRT-PCR Assays for microRNAs that regulate NCKAP1 (see all 17):
    hsa-miR-3163 hsa-miR-140-5p hsa-miR-365 hsa-miR-34c-3p hsa-miR-607 hsa-miR-4255 hsa-miR-551b* hsa-miR-4282
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    Additional mRNA sequence: 

    AB011159.1 AB014509.1 AK001291.1 AK292914.1 BC015025.1 BT007033.1 

    18 DOTS entries:

    DT.100824866  DT.100824859  DT.87017197  DT.75170947  DT.120967117  DT.97859535  DT.120967122  DT.95161100 
    DT.99936368  DT.100658132  DT.100824857  DT.120967161  DT.91654745  DT.100824858  DT.120967073  DT.91764130 
    DT.91764146  DT.95087700 

    Selected AceView cDNA sequences (see all 452):

    BQ962637 AA580371 AB011159 BM828104 CD723488 BQ027326 N45518 AA336304 
    NM_205842 BM721730 AA862525 BM833719 AU127635 AU133066 BM541265 AU124752 
    CB127971 NM_013436 AI811671 AU124348 AU125389 CB051462 F08768 AU133346 

    GeneLoc Exon Structure


    (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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    NCKAP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGCCCTGTT
    NCKAP1 Expression
    About this image


    NCKAP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Gonad (Reproductive System)
             Primordial Germ Cells Primitive Gonad
     
     Yolk Sac (Extraembryonic Tissues)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
     
     Blood (Cardiovascular System)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Primitive Streak (Early Embryonic Tissues)
             Endoderm Progenitor Cells Anterior Primitive Streak
    NCKAP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NCKAP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.603732

    UniProtKB/Swiss-Prot: NCKP1_HUMAN, Q9Y2A7
    Tissue specificity: Expressed in all tissues examined except peripheral blood leukocytes, with highest expression
    in brain, heart, and skeletal muscle

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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 eukaryotes.

    Orthologs for NCKAP1 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nckap11 , 5 NCK-associated protein 11, 5 91.28(n)1
    99.38(a)1
      2 (48.21 cM)5
    508841  NM_016965.21  NP_058661.11 
     805005125 
    chicken
    (Gallus gallus)
    Aves NCKAP11 NCK-associated protein 1 87.1(n)
    99.29(a)
      424000  XM_001232274.3  XP_001232275.2 
    lizard
    (Anolis carolinensis)
    Reptilia NCKAP16
    NCK-associated protein 1
    99(a)
    1 ↔ 1
    GL343221.1(1906805-1974675)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.238482 Xenopus laevis transcribed sequence with moderate similarity more 81.55(n)    CA788519.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570547662   -- 77.54(n)    57054766 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hem1 , 3 axonogenesis3
    HEM-protein1
    59(a)3
    58.39(n)1
    60.43(a)1
      3 79D43
    404621  NM_079490.41  NP_524214.11 
    worm
    (Caenorhabditis elegans)
    Secernentea gex-31 gex-3 50.59(n)
    42.31(a)
      178191  NM_069967.5  NP_502368.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons GRL1 GRL 39.53(n)
    25.49(a)
      818077  NM_001036408.2  NP_001031485.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g05445001 Os08g0544500 41.04(n)
    25.73(a)
      4346211  NM_001068941.1  NP_001062406.2 


    ENSEMBL Gene Tree for NCKAP1 (if available)
    TreeFam Gene Tree for NCKAP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NCKAP1 gene
    NCKAP1L2  
    1 SIMAP similar gene for NCKAP1 using alignment to 1 protein entry:     NCKP1_HUMAN:
    NCKAP1L

    Find genes that share paralogs with NCKAP1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for NCKAP1
    PGOHUM00000241901


    (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 NCKAP1 (see all 2021)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1926112671,2
    --183789166(+) AAACAC/TTGGGT 2 -- int10--------
    rs1467377761,2
    C--183789236(+) TTTTAC/TGTCTT 2 -- int10--------
    rs1498339161,2
    C--183789304(+) CTCAA-/TTTTTT 2 -- int10--------
    rs558860591,2
    C,F--183789488(+) TAGCTG/CACCTG 2 -- int14Minor allele frequency- C:0.30WA CSA 124
    rs75101,2
    C,F,A,H--183789649(-) TACCTT/GCCATA 2 -- ut3129Minor allele frequency- G:0.37MN NA NS EA CSA WA 3914
    rs1837323181,2
    --183790019(+) AACCAC/TAGGTA 2 -- ut310--------
    rs1441516531,2
    --183790051(+) ATGAAA/GTAATT 2 -- ut310--------
    rs46666011,2
    C,F,H--183790072(+) TGAATG/ACTATA 2 -- ut3126Minor allele frequency- A:0.06NA NS EA WA CSA 2384
    rs1866674991,2
    C--183790219(+) AATAAG/TCTCAG 2 -- ut310--------
    rs1465094601,2
    C--183790222(+) AATCTC/TAGTGA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for NCKAP1 (183773843 - 183903586 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for NCKAP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv875485CNV Gain21882294
    nsv818096CNV Gain17921354
    esv8239CNV Gain19470904
    dgv1276e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): NCKAP1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NCKAP1
    DNA2.0 Custom Variant and Variant Library Synthesis for NCKAP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604891    OMIM disorders: --

    1 disease for NCKAP1:    
    About MalaCards
    nance-horan syndrome


    Find genes that share disorders with NCKAP1           About GenesLikeMe

    2 Novoseek inferred disease relationships for NCKAP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    scar 58.5 5 18261908 (1), 15296761 (1), 17894861 (1)
    alzheimers disease 22.3 5 11418237 (2), 10673335 (1)


    Export disorders for NCKAP1 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 NCKAP1 gene, integrated from 10 sources (see all 53):
    (articles sorted by number of sources associating them with NCKAP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of a novel apoptosis-related gene, human Nap1 (NCKAP1), and its possible relation to Alzheimer disease. (PubMed id 10673335)1, 2, 3, 9 Suzuki T.... Sakaki Y. (Genomics 2000)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. 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)
    4. Mechanism of regulation of WAVE1-induced actin nucleation by Rac1 and Nck. (PubMed id 12181570)1, 3 Eden S....Kirschner M.W. (Nature 2002)
    5. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2 Nagase T....Ohara O. (DNA Res. 1998)
    6. A novel ligand for an SH3 domain of the adaptor protein Nck bears an SH2 domain and nuclear signaling motifs. (PubMed id 9344857)1, 3 Matuoka K.... Takenawa T. (Biochem. Biophys. Res. Commun. 1997)
    7. Isolation of hNap1BP which interacts with human Nap 1 (NCKAP1) whose expression is down-regulated in Alzheimer's disease. (PubMed id 11418237)1, 9 Yamamoto A.... Sakaki Y. (Gene 2001)
    8. Abi1 is essential for the formation and activation of a WAVE2 signalling complex. (PubMed id 15048123)1, 9 Innocenti M....Scita G. (Nat. Cell Biol. 2004)
    9. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    10. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 10787 HGNC: 7666 AceView: NCKAP1 Ensembl:ENSG00000061676 euGenes: HUgn10787
    ECgene: NCKAP1 Kegg: 10787 H-InvDB: NCKAP1

    (According to HUGE)
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    HUGE: KIAA0587

    (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 NCKAP1 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 NCKAP1 gene:
    Search GeneIP for patents involving NCKAP1

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



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