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    NCKIPSD NCK interacting protein with SH3 domain [ Homo sapiens (human) ]

    Gene ID: 51517, updated on 27-Nov-2024

    Summary

    Official Symbol
    NCKIPSDprovided by HGNC
    Official Full Name
    NCK interacting protein with SH3 domainprovided by HGNC
    Primary source
    HGNC:HGNC:15486
    See related
    Ensembl:ENSG00000213672 MIM:606671; AllianceGenome:HGNC:15486
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DIP; DIP1; ORF1; WISH; VIP54; AF3P21; SPIN90; WASLBP
    Summary
    The protein encoded by this gene contains a nuclear localization signal. 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 This protein is involved in the formation and maintenance of dendritic spines, and modulates synaptic activity in neurons. 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, Aug 2019]
    Expression
    Ubiquitous expression in ovary (RPKM 9.3), brain (RPKM 7.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NCKIPSD in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (48673844..48685915, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (48702805..48714878, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (48711277..48723348, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene cadherin EGF LAG seven-pass G-type receptor 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48693647-48694344 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48694345-48695040 Neighboring gene microRNA 4793 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48698042-48698628 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48698629-48699213 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48700385-48700970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19841 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:48702141-48702725 Neighboring gene long intergenic non-protein coding RNA 2585 Neighboring gene Sharpr-MPRA regulatory region 90 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:48725238-48725738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:48725739-48726239 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48732697-48733286 Neighboring gene inositol hexakisphosphate kinase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:48750133-48750632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14339 Neighboring gene protein kinase cAMP-dependent type II regulatory subunit alpha Neighboring gene MPRA-validated peak4643 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48806609-48807260 Neighboring gene MPRA-validated peak4644 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14340

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of NCK interacting protein with SH3 domain (NCKIPSD) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC23891

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Arp2/3 complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cytoskeletal protein binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cytoskeleton organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of postsynapse assembly IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of COP9 signalosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intermediate filament NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    NCK-interacting protein with SH3 domain
    Names
    54 kDa VacA-interacting protein
    54 kDa vimentin-interacting protein
    90 kDa SH3 protein interacting with Nck
    SH3 adapter protein SPIN90
    SH3 protein interacting with Nck, 90 kDa
    WASP-interacting SH3-domain protein
    dia interacting protein
    dia-interacting protein 1
    diaphanous protein interacting protein
    wiskott-Aldrich syndrome protein-interacting protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_016453.4NP_057537.1  NCK-interacting protein with SH3 domain isoform 1

      See identical proteins and their annotated locations for NP_057537.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF303581, HY010884, HY050918
      Consensus CDS
      CCDS2776.1
      UniProtKB/Swiss-Prot
      B4DFL5, Q6GU34, Q6SPF3, Q8TC10, Q9NZQ3, Q9UGM8
      Related
      ENSP00000294129.2, ENST00000294129.7
      Conserved Domains (2) summary
      cd11849
      Location:154
      SH3_SPIN90; Src homology 3 domain of SH3 protein interacting with Nck, 90 kDa (SPIN90)
      pfam09431
      Location:570683
      DUF2013; Protein of unknown function (DUF2013)
    2. NM_184231.3NP_909119.1  NCK-interacting protein with SH3 domain isoform 2

      See identical proteins and their annotated locations for NP_909119.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 2 which lacks an internal segment and is shorter, compared to isoform 1.
      Source sequence(s)
      BC016052, HY010884, HY050918
      Consensus CDS
      CCDS46827.1
      UniProtKB/Swiss-Prot
      Q9NZQ3
      Related
      ENSP00000389059.2, ENST00000416649.6
      Conserved Domains (2) summary
      cd11849
      Location:154
      SH3_SPIN90; Src homology 3 domain of SH3 protein interacting with Nck, 90 kDa (SPIN90)
      pfam09431
      Location:563676
      DUF2013; Protein of unknown function (DUF2013)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      48673844..48685915 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      48702805..48714878 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)