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Aliases for NCKIPSD Gene

Aliases for NCKIPSD Gene

  • NCK Interacting Protein With SH3 Domain 2 3 5
  • Wiskott-Aldrich Syndrome Protein-Interacting Protein 3 4
  • SH3 Protein Interacting With Nck, 90 KDa 2 3
  • 90 KDa SH3 Protein Interacting With Nck 3 4
  • Diaphanous Protein Interacting Protein 2 3
  • 54 KDa Vimentin-Interacting Protein 3 4
  • WASP-Interacting SH3-Domain Protein 3 4
  • 54 KDa VacA-Interacting Protein 3 4
  • SH3 Adapter Protein SPIN90 3 4
  • Dia-Interacting Protein 1 3 4
  • Dia Interacting Protein 2 3
  • AF3P21 3 4
  • SPIN90 3 4
  • VIP54 3 4
  • WISH 3 4
  • NCK-Interacting Protein With SH3 Domain 3
  • Diaphanous Protein-Interacting Protein 4
  • WASLBP 3
  • DIP-1 4
  • ORF1 3
  • DIP1 3
  • DIP 3

External Ids for NCKIPSD Gene

Previous GeneCards Identifiers for NCKIPSD Gene

  • GC03M048661
  • GC03M048675

Summaries for NCKIPSD Gene

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 Lymphoid Leukemia and Wiskott-Aldrich Syndrome. Among its related pathways are Innate Immune System and Regulation of actin dynamics for phagocytic cup formation. GO annotations related to this gene include SH3 domain binding and cytoskeletal protein binding.

UniProtKB/Swiss-Prot for NCKIPSD Gene

  • 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NCKIPSD Gene

Genomics for NCKIPSD Gene

Regulatory Elements for NCKIPSD Gene

Enhancers for NCKIPSD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G048707 0.9 ENCODE dbSUPER 34.7 -22.7 -22719 2.8 BHLHE40 ZNF10 CEBPB CEBPG NR2F2 ZFHX2 POLR2A ZNF416 SP7 WDR6 NCKIPSD QRICH1 PRKAR2A-AS1 PRKAR2A IP6K2
GH03G048682 1.3 ENCODE dbSUPER 20.3 +0.8 755 5.8 HDGF FOXA2 PKNOX1 CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B WDR6 AMT NCKIPSD CELSR3-AS1 CELSR3 ARIH2 ENSG00000235236 ENSG00000223343 P4HTM IP6K2
GH03G048714 1.3 ENCODE dbSUPER 12.6 -30.1 -30085 3.2 HDGF PKNOX1 ATF1 ARID4B SIN3A DMAP1 YBX1 YY1 ETS1 GLIS2 WDR6 NCKIPSD PRKAR2A-AS1 PRKAR2A QARS MST1 IP6K2
GH03G048696 0.7 ENCODE dbSUPER 22.4 -10.2 -10178 0.7 ZSCAN5C PRDM1 YY1 NCKIPSD IP6K2
GH03G048654 1.1 Ensembl ENCODE 10.6 +30.0 29957 2.8 ARID4B SIN3A RAD21 ETS1 ZNF143 ZNF207 FOS CREM EGR2 SP5 WDR6 TMEM89 UQCRC1 NCKIPSD FBXW12 PRKAR2A PRKAR2A-AS1 CDC25A PIR43914 MIR4793
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NCKIPSD on UCSC Golden Path with GeneCards custom track

Promoters for NCKIPSD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000152135 664 1401 FOXA2 ATF1 CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 ZNF48 ZBTB7B

Genomic Location for NCKIPSD Gene

Chromosome:
3
Start:
48,673,839 bp from pter
End:
48,686,364 bp from pter
Size:
12,526 bases
Orientation:
Minus strand

Genomic View for NCKIPSD Gene

Genes around NCKIPSD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NCKIPSD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NCKIPSD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NCKIPSD Gene

Proteins for NCKIPSD Gene

  • Protein details for NCKIPSD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZQ3-SPN90_HUMAN
    Recommended name:
    NCK-interacting protein with SH3 domain
    Protein Accession:
    Q9NZQ3
    Secondary Accessions:
    • B4DFL5
    • Q6GU34
    • Q6SPF3
    • Q8TC10
    • Q9UGM8

    Protein attributes for NCKIPSD Gene

    Size:
    722 amino acids
    Molecular mass:
    78960 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=BAG57476.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for NCKIPSD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NCKIPSD Gene

Post-translational modifications for NCKIPSD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for NCKIPSD

No data available for DME Specific Peptides for NCKIPSD Gene

Domains & Families for NCKIPSD Gene

Protein Domains for NCKIPSD Gene

Suggested Antigen Peptide Sequences for NCKIPSD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with NCKIPSD: view

No data available for Gene Families and UniProtKB/Swiss-Prot for NCKIPSD Gene

Function for NCKIPSD Gene

Molecular function for NCKIPSD Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for NCKIPSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15095401
GO:0008092 cytoskeletal protein binding NAS 10619843
GO:0017124 SH3 domain binding IEA --
genes like me logo Genes that share ontologies with NCKIPSD: view
genes like me logo Genes that share phenotypes with NCKIPSD: view

Animal Models for NCKIPSD Gene

MGI Knock Outs for NCKIPSD:

Animal Model Products

CRISPR Products

miRNA for NCKIPSD Gene

miRTarBase miRNAs that target NCKIPSD

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NCKIPSD Gene

Localization for NCKIPSD Gene

Subcellular locations from UniProtKB/Swiss-Prot for NCKIPSD Gene

Nucleus. Note=Colocalizes with DRF1 at membrane ruffles, and with Nck at Z-disks in mature cardiac myocytes.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NCKIPSD gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for NCKIPSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament NAS 10619843
GO:0008180 colocalizes_with COP9 signalosome IDA 18850735
genes like me logo Genes that share ontologies with NCKIPSD: view

Pathways & Interactions for NCKIPSD Gene

genes like me logo Genes that share pathways with NCKIPSD: view

SIGNOR curated interactions for NCKIPSD Gene

Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for NCKIPSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006607 NLS-bearing protein import into nucleus TAS 10648423
GO:0007010 cytoskeleton organization NAS 10619843
GO:0007165 signal transduction TAS 10648423
GO:0010976 positive regulation of neuron projection development IEA --
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis TAS --
genes like me logo Genes that share ontologies with NCKIPSD: view

Drugs & Compounds for NCKIPSD Gene

No Compound Related Data Available

Transcripts for NCKIPSD Gene

mRNA/cDNA for NCKIPSD Gene

(9) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NCKIPSD Gene

NCK interacting protein with SH3 domain:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NCKIPSD Gene

No ASD Table

Relevant External Links for NCKIPSD Gene

GeneLoc Exon Structure for
NCKIPSD
ECgene alternative splicing isoforms for
NCKIPSD

Expression for NCKIPSD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NCKIPSD Gene

Protein differential expression in normal tissues from HIPED for NCKIPSD Gene

This gene is overexpressed in Peripheral blood mononuclear cells (25.3), Frontal cortex (15.9), and Platelet (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NCKIPSD Gene



Protein tissue co-expression partners for NCKIPSD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NCKIPSD Gene:

NCKIPSD

SOURCE GeneReport for Unigene cluster for NCKIPSD Gene:

Hs.655006

mRNA Expression by UniProt/SwissProt for NCKIPSD Gene:

Q9NZQ3-SPN90_HUMAN
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.

Evidence on tissue expression from TISSUES for NCKIPSD Gene

  • Nervous system(4.5)
  • Blood(4.3)
  • Heart(4.2)
  • Skin(4.2)
  • Bone marrow(4.1)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with NCKIPSD: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NCKIPSD Gene

Orthologs for NCKIPSD Gene

This gene was present in the common ancestor of animals.

Orthologs for NCKIPSD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NCKIPSD 34 35
  • 99.54 (n)
dog
(Canis familiaris)
Mammalia NCKIPSD 35
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NCKIPSD 34 35
  • 88.55 (n)
mouse
(Mus musculus)
Mammalia Nckipsd 34 16 35
  • 87.11 (n)
rat
(Rattus norvegicus)
Mammalia Nckipsd 34
  • 86.16 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NCKIPSD 35
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NCKIPSD 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves NCKIPSD 34 35
  • 72.53 (n)
lizard
(Anolis carolinensis)
Reptilia NCKIPSD 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nckipsd 34
  • 66.19 (n)
zebrafish
(Danio rerio)
Actinopterygii nckipsd 34 35
  • 62.75 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2258 35
  • 28 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 36 (a)
OneToOne
Species where no ortholog for NCKIPSD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NCKIPSD Gene

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

Paralogs for NCKIPSD Gene

(5) SIMAP similar genes for NCKIPSD Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with NCKIPSD: view

No data available for Paralogs for NCKIPSD Gene

Variants for NCKIPSD Gene

Sequence variations from dbSNP and Humsavar for NCKIPSD Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000603034 -- 48,670,764(+) CATAA(A/G)TGATT intron-variant
rs1000722507 -- 48,669,127(+) CTGTT(C/T)ACAAG intron-variant, nc-transcript-variant
rs1000799645 -- 48,664,883(+) TCTGA(A/G)TCACC intron-variant, upstream-variant-2KB, reference, synonymous-codon
rs1000961186 -- 48,664,715(+) GGGAT(C/T)ATAGG intron-variant, upstream-variant-2KB, reference, missense
rs1001169723 -- 48,664,436(+) GGCTG(A/G)AGGAG intron-variant, upstream-variant-2KB, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for NCKIPSD Gene

Variant ID Type Subtype PubMed ID
nsv523981 CNV loss 19592680
nsv590246 CNV loss 21841781
nsv590247 CNV loss 21841781
nsv590248 CNV loss 21841781
nsv818138 CNV gain 17921354
nsv834685 CNV loss 17160897

Variation tolerance for NCKIPSD Gene

Residual Variation Intolerance Score: 70.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.31; 41.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NCKIPSD Gene

Human Gene Mutation Database (HGMD)
NCKIPSD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NCKIPSD

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NCKIPSD Gene

Disorders for NCKIPSD Gene

MalaCards: The human disease database

(2) MalaCards diseases for NCKIPSD Gene - From: Novoseek and GeneCards

Disorder Aliases PubMed IDs
lymphoid leukemia
wiskott-aldrich syndrome
  • wiskott syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SPN90_HUMAN
  • Note=A chromosomal aberration involving NCKIPSD/AF3p21 is found in therapy-related leukemia. Translocation t(3;11)(p21;q23) with KMT2A/MLL1. {ECO:0000269 PubMed:10648423}.

Relevant External Links for NCKIPSD

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NCKIPSD
genes like me logo Genes that share disorders with NCKIPSD: view

No data available for Genatlas for NCKIPSD Gene

Publications for NCKIPSD Gene

  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). (PMID: 10648423) Sano K. … Nakamura H. (Blood 2000) 2 3 4 22 64
  2. SPIN90 (SH3 protein interacting with Nck, 90 kDa), an adapter protein that is developmentally regulated during cardiac myocyte differentiation. (PMID: 11278500) Lim C.S. … Song W.K. (J. Biol. Chem. 2001) 3 4 22 64
  3. Genomic organization, tissue expression and cellular localization of AF3p21, a fusion partner of MLL in therapy-related leukemia. (PMID: 11241789) Hayakawa A. … Sano K. (Genes Chromosomes Cancer 2001) 3 4 22 64
  4. The VacA toxin of Helicobacter pylori identifies a new intermediate filament-interacting protein. (PMID: 10619843) de Bernard M. … Montecucco C. (EMBO J. 2000) 2 3 4 64
  5. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PMID: 19807924) Voss M. … Janssen O. (BMC Immunol. 2009) 3 4 64

Products for NCKIPSD Gene

Sources for NCKIPSD Gene

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