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    Nrap nebulin-related anchoring protein [ Mus musculus (house mouse) ]

    Gene ID: 18175, updated on 30-Apr-2024

    Summary

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    Official Symbol
    Nrapprovided by MGI
    Official Full Name
    nebulin-related anchoring proteinprovided by MGI
    Primary source
    MGI:MGI:1098765
    See related
    Ensembl:ENSMUSG00000049134 AllianceGenome:MGI:1098765
    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
    Summary
    Enables actin binding activity; muscle alpha-actinin binding activity; and vinculin binding activity. Predicted to be involved in cardiac muscle thin filament assembly. Predicted to act upstream of or within actin cytoskeleton organization. Located in fascia adherens; muscle tendon junction; and myofibril. Is expressed in early conceptus; heart; limb musculature; oocyte; and skeletal muscle. Orthologous to human NRAP (nebulin related anchoring protein). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in heart adult (RPKM 47.0) and mammary gland adult (RPKM 9.6) See more
    Orthologs
    human all
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    Genomic context

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    See Nrap in Genome Data Viewer
    Location:
    19 D2; 19 51.8 cM
    Exon count:
    42
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (56308473..56378466, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (56320037..56390062, complement)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 32144 Neighboring gene predicted gene, 32257 Neighboring gene predicted gene, 22271 Neighboring gene hyaluronic acid binding protein 2 Neighboring gene predicted gene 17197 Neighboring gene STARR-seq mESC enhancer starr_46523 Neighboring gene caspase 7 Neighboring gene predicted gene, 46657

    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. Cardiac-specific NRAP overexpression causes right ventricular dysfunction in mice. Lu S, et al. Exp Cell Res, 2011 May 1. PMID 21276443, Free PMC Article
    2. N-RAP scaffolds I-Z-I assembly during myofibrillogenesis in cultured chick cardiomyocytes. Carroll S, et al. J Cell Sci, 2004 Jan 1. PMID 14657273
    3. Expression and alternative splicing of N-RAP during mouse skeletal muscle development. Lu S, et al. Cell Motil Cytoskeleton, 2008 Dec. PMID 18792955, Free PMC Article
    4. Genomic organization, alternative splicing, and expression of human and mouse N-RAP, a nebulin-related LIM protein of striated muscle. Mohiddin SA, et al. Cell Motil Cytoskeleton, 2003 Jul. PMID 12789664
    5. N-RAP expression during mouse heart development. Lu S, et al. Dev Dyn, 2005 May. PMID 15765519

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in nemaline myopathy.
      Title: Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in nemaline myopathy.
    2. Nrarp-deficient embryos and mice exhibit genetic background-dependent defects of the axial skeleton. In Nrarp mutant embryos, the posterior somite compartment was expanded.
      Title: The Notch-regulated ankyrin repeat protein is required for proper anterior-posterior somite patterning in mice.
    3. Results show that chronic NRAP overexpression in the mouse leads to right ventricular cardiomyopathy by 10 months of age.
      Title: Cardiac-specific NRAP overexpression causes right ventricular dysfunction in mice.
    4. Highly conserved and exclusively expressed in cardiac and skeletal muscle. Candidate cause for cardiac and skeletal myopathies
      Title: Genomic organization, alternative splicing, and expression of human and mouse N-RAP, a nebulin-related LIM protein of striated muscle.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 

    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 actin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables muscle alpha-actinin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables vinculin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within actin cytoskeleton organization TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cardiac muscle thin filament assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in fascia adherens IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in muscle tendon junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in myofibril IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    nebulin-related-anchoring protein
    Names
    N-RAP

    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_001286552.2 → NP_001273481.1  nebulin-related-anchoring protein isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC115771
      UniProtKB/TrEMBL
      E9PZF4
      Conserved Domains (2) summary
      smart00227
      Location:404 → 434
      NEBU; The Nebulin repeat is present also in Las1
      pfam00880
      Location:232 → 258
      Nebulin; Nebulin repeat

    2. NM_001403176.1 → NP_001390105.1  nebulin-related-anchoring protein isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC115771

    3. NM_001403178.1 → NP_001390107.1  nebulin-related-anchoring protein isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC115771

    4. NM_001403180.1 → NP_001390109.1  nebulin-related-anchoring protein isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC115771

    5. NM_001403184.1 → NP_001390113.1  nebulin-related-anchoring protein isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC115771

    6. NM_001403185.1 → NP_001390114.1  nebulin-related-anchoring protein isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC115771

    7. NM_001403186.1 → NP_001390115.1  nebulin-related-anchoring protein isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC115771

    8. NM_001403187.1 → NP_001390116.1  nebulin-related-anchoring protein isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC115771

    9. NM_001403188.1 → NP_001390117.1  nebulin-related-anchoring protein isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC115771

    10. NM_001403190.1 → NP_001390119.1  nebulin-related-anchoring protein isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC115771

    11. NM_001403191.1 → NP_001390120.1  nebulin-related-anchoring protein isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC115771

    12. NM_001403192.1 → NP_001390121.1  nebulin-related-anchoring protein isoform 14

      Status: VALIDATED

      Source sequence(s)
      AC115771

    13. NM_001403193.1 → NP_001390122.1  nebulin-related-anchoring protein isoform 15

      Status: VALIDATED

      Source sequence(s)
      AC115771

    14. NM_001403194.1 → NP_001390123.1  nebulin-related-anchoring protein isoform 16

      Status: VALIDATED

      Source sequence(s)
      AC115771

    15. NM_001403195.1 → NP_001390124.1  nebulin-related-anchoring protein isoform 17

      Status: VALIDATED

      Source sequence(s)
      AC115771

    16. NM_001403196.1 → NP_001390125.1  nebulin-related-anchoring protein isoform 18

      Status: VALIDATED

      Source sequence(s)
      AC115771
      Related
      ENSMUSP00000093640.5, ENSMUST00000095947.11

    17. NM_008733.5 → NP_032759.3  nebulin-related-anchoring protein isoform S

      See identical proteins and their annotated locations for NP_032759.3

      Status: VALIDATED

      Source sequence(s)
      AC115771
      Consensus CDS
      CCDS29913.1
      UniProtKB/Swiss-Prot
      E9QN76, O35884, Q3UTY7, Q3UU10, Q80V40, Q80XB4
      UniProtKB/TrEMBL
      E9PZF4
      Related
      ENSMUSP00000073228.7, ENSMUST00000073536.13
      Conserved Domains (3) summary
      smart00227
      Location:520 → 550
      NEBU; The Nebulin repeat is present also in Las1
      cd09446
      Location:6 → 58
      LIM_N_RAP; The LIM domain of N-RAP
      pfam00880
      Location:561 → 588
      Nebulin; Nebulin repeat

    18. NM_198059.4 → NP_932307.2  nebulin-related-anchoring protein isoform C

      Status: VALIDATED

      Source sequence(s)
      AC115771
      Consensus CDS
      CCDS29914.1
      UniProtKB/TrEMBL
      E9PZF4
      Related
      ENSMUSP00000048364.9, ENSMUST00000040711.15
      Conserved Domains (3) summary
      smart00227
      Location:485 → 515
      NEBU; The Nebulin repeat is present also in Las1
      cd09446
      Location:6 → 58
      LIM_N_RAP; The LIM domain of N-RAP
      pfam00880
      Location:313 → 339
      Nebulin; Nebulin repeat

    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_000085.7 Reference GRCm39 C57BL/6J

      Range
      56308473..56378466 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80XB4.3 GenPept UniProtKB/Swiss-Prot:Q80XB4

    Gene LinkOut

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

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