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Aliases for NCKIPSD Gene

Aliases for NCKIPSD Gene

  • NCK Interacting Protein With SH3 Domain 2 3
  • AF3P21 3 4 6
  • SPIN90 3 4 6
  • Wiskott-Aldrich Syndrome Protein-Interacting Protein 3 4
  • 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
  • VIP54 3 4
  • WISH 3 4
  • SH3 Protein Interacting With Nck, 90 KDa 3
  • NCK-Interacting Protein With SH3 Domain 3
  • Diaphanous Protein-Interacting Protein 4
  • SH3 Protein Interacting With Nck 2
  • 90 KDa 2
  • WASLBP 3
  • DIP-1 4
  • DIP1 3
  • ORF1 3
  • DIP 3

External Ids for NCKIPSD Gene

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 wiskott-aldrich syndrome. Among its related pathways are Fcgamma receptor (FCGR) dependent phagocytosis and Fcgamma receptor (FCGR) dependent phagocytosis. 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NCKIPSD Gene

Genomics for NCKIPSD Gene

Genomic Location for NCKIPSD Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NCKIPSD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NCKIPSD Gene

Regulatory Elements 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

Proteomics data for NCKIPSD Gene at MOPED

Post-translational modifications for NCKIPSD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NCKIPSD Gene

No data available for DME Specific Peptides for NCKIPSD Gene

Domains for NCKIPSD Gene

Protein Domains for NCKIPSD Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for NCKIPSD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NZQ3

UniProtKB/Swiss-Prot:

SPN90_HUMAN
Domain:
  • Contains 1 SH3 domain.:
    • Q9NZQ3
genes like me logo Genes that share domains with NCKIPSD: view

No data available for Gene Families 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

Phenotypes for NCKIPSD Gene

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

Animal Models for NCKIPSD Gene

MGI Knock Outs for NCKIPSD:

miRNA for NCKIPSD Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
Jensen Localization Image for NCKIPSD Gene COMPARTMENTS Subcellular localization image for NCKIPSD gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 4

Gene Ontology (GO) - Cellular Components for NCKIPSD Gene

GO ID Qualified GO term Evidence PubMed IDs
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 for NCKIPSD Gene

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

Pathways by source for NCKIPSD Gene

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:0007264 small GTPase mediated signal transduction TAS --
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis TAS --
genes like me logo Genes that share ontologies with NCKIPSD: view

Transcripts for NCKIPSD Gene

mRNA/cDNA for NCKIPSD Gene

(2) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(1) 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:

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 for NCKIPSD Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NCKIPSD Gene

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.
genes like me logo Genes that share expressions with NCKIPSD: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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 35
  • 99.54 (n)
  • 99.54 (a)
NCKIPSD 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NCKIPSD 35
  • 88.55 (n)
  • 90.72 (a)
NCKIPSD 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NCKIPSD 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nckipsd 35
  • 87.11 (n)
  • 89.36 (a)
Nckipsd 16
Nckipsd 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NCKIPSD 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NCKIPSD 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nckipsd 35
  • 86.16 (n)
  • 89.16 (a)
chicken
(Gallus gallus)
Aves NCKIPSD 35
  • 72.53 (n)
  • 71.96 (a)
NCKIPSD 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NCKIPSD 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nckipsd 35
  • 66.19 (n)
  • 66.91 (a)
zebrafish
(Danio rerio)
Actinopterygii nckipsd 35
  • 62.75 (n)
  • 59.25 (a)
nckipsd 36
  • 52 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG2258 36
  • 28 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToOne
Species with no ortholog for NCKIPSD:
  • 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

Selected 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 MAF
rs12796 -- 48,674,144(+) TGGTG(A/G)GAGAT utr-variant-3-prime
rs990211 -- 48,683,607(+) TTCCA(A/G)ACCCA intron-variant
rs3816836 -- 48,679,560(-) GAGGG(C/T)GGGGT intron-variant
rs4858797 -- 48,673,714(+) AAGGC(A/C)GGGCC downstream-variant-500B
rs4858826 -- 48,673,715(+) AGGCA(A/G)GGCCT downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
nsv523981 CNV Loss 19592680
nsv834685 CNV Loss 17160897
nsv876762 CNV Loss 21882294
nsv818138 CNV Gain 17921354

Relevant External Links for NCKIPSD Gene

HapMap Linkage Disequilibrium report
NCKIPSD
Human Gene Mutation Database (HGMD)
NCKIPSD

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

Disorders for NCKIPSD Gene

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.

(1) MalaCards Diseases for NCKIPSD Gene

Search for NCKIPSD Gene in MalaCards »

(2) Novoseek inferred disease relationships for NCKIPSD Gene

Disease -log(P) Hits PubMed IDs
wiskott-aldrich syndrome 70.8 2
leukemia 33.7 5
genes like me logo Genes that share disorders with NCKIPSD: view

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 23
  2. 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 23
  3. 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 23
  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
  5. mDia-interacting protein acts downstream of rho-mDia and modifies src activation and stress fiber formation. (PMID: 11509578) Satoh S. … Tominaga T. (J. Biol. Chem. 2001) 3 4

Products for NCKIPSD Gene

Sources for NCKIPSD Gene

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