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    Nckap1 NCK-associated protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 50884, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Nckap1provided by MGI
    Official Full Name
    NCK-associated protein 1provided by MGI
    Primary source
    MGI:MGI:1355333
    See related
    Ensembl:ENSMUSG00000027002 AllianceGenome:MGI:1355333
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    H19; Hem2; Nap1; mh19; Hem-2; p125Nap1; mKIAA0587
    Summary
    Predicted to contribute to small GTPase binding activity. Involved in positive regulation of actin filament polymerization and positive regulation of lamellipodium assembly. Acts upstream of or within several processes, including apical protein localization; embryonic morphogenesis; and segmentation. Located in lamellipodium and ruffle. Part of filamentous actin. Is active in postsynapse. Is expressed in several structures, including alimentary system; genitourinary system; immune system; nervous system; and sensory organ. Orthologous to human NCKAP1 (NCK associated protein 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in cortex adult (RPKM 59.6), frontal lobe adult (RPKM 57.9) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Nckap1 in Genome Data Viewer
    Location:
    2 C3; 2 48.21 cM
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (80330856..80411526, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (80500512..80581182, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_04946 Neighboring gene STARR-seq mESC enhancer starr_04947 Neighboring gene STARR-seq mESC enhancer starr_04948 Neighboring gene frizzled-related protein Neighboring gene mitochondrial ribosomal protein S36 pseudogene Neighboring gene N-glycanase 1 pseudogene Neighboring gene predicted gene, 24461 Neighboring gene predicted gene 13688 Neighboring gene STARR-positive B cell enhancer ABC_E7830 Neighboring gene dual specificity phosphatase 19 Neighboring gene microRNA 684-1 Neighboring gene SMT3 suppressor of mif two 3 homolog 2 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Nap1-mediated actin remodeling is essential for mammalian myoblast fusion. Nowak SJ, et al. J Cell Sci, 2009 Sep 15. PMID 19706686, Free PMC Article
    2. Nap1-regulated neuronal cytoskeletal dynamics is essential for the final differentiation of neurons in cerebral cortex. Yokota Y, et al. Neuron, 2007 May 3. PMID 17481396, Free PMC Article
    3. The RAC1 Target NCKAP1 Plays a Crucial Role in the Progression of Braf;Pten-Driven Melanoma in Mice. Swaminathan K, et al. J Invest Dermatol, 2021 Mar. PMID 32777214
    4. The WAVE Regulatory Complex Is Required to Balance Protrusion and Adhesion in Migration. Whitelaw JA, et al. Cells, 2020 Jul 7. PMID 32646006, Free PMC Article
    5. NCK Associated Protein 1 Modulated by miRNA-214 Determines Vascular Smooth Muscle Cell Migration, Proliferation, and Neointima Hyperplasia. Afzal TA, et al. J Am Heart Assoc, 2016 Dec 7. PMID 27927633, Free PMC Article

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The RAC1 Target NCKAP1 Plays a Crucial Role in the Progression of Braf;Pten-Driven Melanoma in Mice.
      Title: The RAC1 Target NCKAP1 Plays a Crucial Role in the Progression of Braf;Pten-Driven Melanoma in Mice.
    2. Inhibition of Nap1, a member of the WAVE actin-remodeling complex, results in accumulations of F-actin structures at the plasma membrane that are concomitant with a decrease in myoblast fusion.
      Title: Nap1-mediated actin remodeling is essential for mammalian myoblast fusion.
    3. Nap1 mutant phenotypes define the crucial roles of Nap1/WAVE-mediated actin regulation in tissue organization and establishment of the body plan of the mammalian embryo.
      Title: Axis specification and morphogenesis in the mouse embryo require Nap1, a regulator of WAVE-mediated actin branching.
    4. Nap1 is a constitutive and essential component of a WAVE2- and Abi-1-containing complex linking Rac to site-directed actin assembly.
      Title: Sra-1 and Nap1 link Rac to actin assembly driving lamellipodia formation.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    contributes_to small GTPase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in Rac protein signal transduction ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within apical protein localization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within basal protein localization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within cell migration involved in gastrulation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell projection assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cortical actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within embryonic body morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within embryonic foregut morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within embryonic heart tube development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within endoderm development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within establishment or maintenance of actin cytoskeleton polarity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within lamellipodium assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within lamellipodium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within mesodermal cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within neural tube closure IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neuron projection morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within notochord development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within notochord morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within paraxial mesoderm development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within paraxial mesoderm morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of Arp2/3 complex-mediated actin nucleation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of actin filament polymerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of lamellipodium assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of lamellipodium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of protein localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within somitogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within zygotic determination of anterior/posterior axis, embryo IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of SCAR complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of SCAR complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of filamentous actin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lamellipodium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lamellipodium membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in postsynapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in postsynapse IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    located_in ruffle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    nck-associated protein 1
    Names
    brain protein H19
    membrane-associated protein HEM-2

    NCBI Reference Sequences (RefSeq)

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    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_001290745.1 → NP_001277674.1  nck-associated protein 1 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      BC060197, BC127067, BP764873, BU055892
      Consensus CDS
      CCDS71082.1
      UniProtKB/TrEMBL
      A1L0U6, A2AS98
      Related
      ENSMUSP00000107390.3, ENSMUST00000111760.3
      Conserved Domains (1) summary
      pfam09735
      Location:13 → 1128
      Nckap1; Membrane-associated apoptosis protein

    2. NM_001355410.1 → NP_001342339.1  nck-associated protein 1 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice junction in the 5' end compared to variant 1, resulting in an isoform (c) that is shorter compared to isoform a.
      Source sequence(s)
      AL928578
      UniProtKB/TrEMBL
      A1L0U6
      Conserved Domains (1) summary
      pfam09735
      Location:13 → 1126
      Nckap1; Membrane-associated apoptosis protein

    3. NM_001355411.1 → NP_001342340.1  nck-associated protein 1 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon and uses an alternate in-frame splice junction in the 5' end compared to variant 1, resulting in an isoform (d) that is shorter compared to isoform a.
      Source sequence(s)
      AL928578
      UniProtKB/TrEMBL
      A1L0U6
      Conserved Domains (1) summary
      pfam09735
      Location:13 → 1120
      Nckap1; Membrane-associated apoptosis protein

    4. NM_016965.3 → NP_058661.1  nck-associated protein 1 isoform b

      See identical proteins and their annotated locations for NP_058661.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' end compared to variant 1, resulting in an isoform (b) that is shorter compared to isoform a.
      Source sequence(s)
      AJ534525, BC060197, BP764873, BU055892
      Consensus CDS
      CCDS16177.1
      UniProtKB/Swiss-Prot
      P28660, Q3UPY6, Q80TX0, Q8CG49, Q99KY0
      UniProtKB/TrEMBL
      A1L0U6
      Related
      ENSMUSP00000028386.6, ENSMUST00000028386.12
      Conserved Domains (1) summary
      pfam09735
      Location:13 → 1122
      Nckap1; Membrane-associated apoptosis protein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      80330856..80411526 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P28660.2 GenPept UniProtKB/Swiss-Prot:P28660

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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