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    Nebl nebulette [ Mus musculus (house mouse) ]

    Gene ID: 74103, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Neblprovided by MGI
    Official Full Name
    nebuletteprovided by MGI
    Primary source
    MGI:MGI:1921353
    See related
    Ensembl:ENSMUSG00000053702 AllianceGenome:MGI:1921353
    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
    Lnebl; 1200007O21Rik; A630080F05Rik; D830029A09Rik
    Summary
    Predicted to enable actin filament binding activity; filamin binding activity; and tropomyosin binding activity. Predicted to be involved in cardiac muscle thin filament assembly. Predicted to be located in Z disc and stress fiber. Is expressed in several structures, including brain; genitourinary system; heart; periderm; and skeletal muscle. Human ortholog(s) of this gene implicated in dilated cardiomyopathy. Orthologous to human NEBL (nebulette). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in heart adult (RPKM 16.6), lung adult (RPKM 9.4) and 6 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Nebl in Genome Data Viewer
    Location:
    2 A3; 2 12.43 cM
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (17347484..17740634, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (17342673..17734949, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 54103 Neighboring gene STARR-seq mESC enhancer starr_03764 Neighboring gene STARR-seq mESC enhancer starr_03765 Neighboring gene STARR-seq mESC enhancer starr_03766 Neighboring gene predicted gene 13325 Neighboring gene STARR-seq mESC enhancer starr_03768 Neighboring gene STARR-seq mESC enhancer starr_03769 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:17285046-17285229 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:17286587-17286770 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:17286789-17286988 Neighboring gene STARR-seq mESC enhancer starr_03770 Neighboring gene STARR-seq mESC enhancer starr_03771 Neighboring gene STARR-seq mESC enhancer starr_03772 Neighboring gene STARR-seq mESC enhancer starr_03773 Neighboring gene STARR-seq mESC enhancer starr_03774 Neighboring gene microRNA 6419 Neighboring gene STARR-seq mESC enhancer starr_03776 Neighboring gene STARR-seq mESC enhancer starr_03777 Neighboring gene predicted gene 13323 Neighboring gene STARR-seq mESC enhancer starr_03784 Neighboring gene STARR-seq mESC enhancer starr_03791 Neighboring gene STARR-seq mESC enhancer starr_03792 Neighboring gene STARR-seq mESC enhancer starr_03793 Neighboring gene H2A histone family member L2A

    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. Deficiency in nebulin repeats of sarcomeric nebulette is detrimental for cardiomyocyte tolerance to exercise and biomechanical stress. Vejandla RM, et al. Am J Physiol Heart Circ Physiol, 2021 May 1. PMID 33861145, Free PMC Article
    2. Altered regional cardiac wall mechanics are associated with differential cardiomyocyte calcium handling due to nebulette mutations in preclinical inherited dilated cardiomyopathy. Maiellaro-Rafferty K, et al. J Mol Cell Cardiol, 2013 Jul. PMID 23632046, Free PMC Article
    3. Genetic and comparative mapping of genes dysregulated in mouse hearts lacking the Hand2 transcription factor gene. Villanueva MP, et al. Genomics, 2002 Dec. PMID 12504851
    4. Contribution of the LIM domain and nebulin-repeats to the interaction of Lasp-2 with actin filaments and focal adhesions. Nakagawa H, et al. PLoS One, 2009 Oct 23. PMID 19851499, Free PMC Article
    5. Zyxin interacts with the SH3 domains of the cytoskeletal proteins LIM-nebulette and Lasp-1. Li B, et al. J Biol Chem, 2004 May 7. PMID 15004028

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deficiency in nebulin repeats of sarcomeric nebulette is detrimental for cardiomyocyte tolerance to exercise and biomechanical stress.
      Title: Deficiency in nebulin repeats of sarcomeric nebulette is detrimental for cardiomyocyte tolerance to exercise and biomechanical stress.
    2. the nebulette disease causing mutations have dominant gain-of-function effects
      Title: Nebulette knockout mice have normal cardiac function, but show Z-line widening and up-regulation of cardiac stress markers.
    3. This study showed distinct effects of NEBL mutations on sarcomere ultrastructure, cellular contractile function, and calcium homeostasis in preclinical DCM in vivo.
      Title: Altered regional cardiac wall mechanics are associated with differential cardiomyocyte calcium handling due to nebulette mutations in preclinical inherited dilated cardiomyopathy.
    4. Actin filament binding activity may be a major contributor to the subcellular localization of lasp-2 to filopodia but is not crucial for lasp-2 recruitment to focal adhesions [lasp-2]
      Title: Contribution of the LIM domain and nebulin-repeats to the interaction of Lasp-2 with actin filaments and focal adhesions.
    5. LIM-nebulette, Lasp-1, and zyxin may play an important role in the organization of focal adhesions [LIM-nebulette]
      Title: Zyxin interacts with the SH3 domains of the cytoskeletal proteins LIM-nebulette and Lasp-1.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (4)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC118387

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables actin filament binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables cytoskeletal protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables filamin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables tropomyosin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in cardiac muscle thin filament assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in Z disc ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in stress fiber ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    nebulette
    Names
    actin-binding Z-disk protein

    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_001362722.1 → NP_001349651.1  nebulette isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' coding region and 5' UTR and contains multiple additional coding exons compared to variant 1. The encoded isoform (2) is longer than isoform 1 and contains multiple nebulin repeats and an SH3 domain.
      Source sequence(s)
      AL772218, AL935297
      UniProtKB/TrEMBL
      B7ZCI2
      Conserved Domains (3) summary
      smart00227
      Location:464 → 494
      NEBU; The Nebulin repeat is present also in Las1
      cd11935
      Location:860 → 917
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
      pfam00880
      Location:669 → 696
      Nebulin; Nebulin repeat

    2. NM_028757.3 → NP_083033.1  nebulette isoform 1

      See identical proteins and their annotated locations for NP_083033.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes a protein (isoform 1) with LIM and SH3 domains and nebulin repeats.
      Source sequence(s)
      AK004645, AK077837, AL935297
      Consensus CDS
      CCDS15706.1
      UniProtKB/Swiss-Prot
      Q9DC07
      Related
      ENSMUSP00000028080.5, ENSMUST00000028080.12
      Conserved Domains (3) summary
      smart00227
      Location:98 → 128
      NEBU; The Nebulin repeat is present also in Las1
      cd09447
      Location:5 → 57
      LIM_LASP; The LIM domain of LIM and SH3 Protein (LASP)
      cd11935
      Location:213 → 270
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)

    RNA

    1. NR_156123.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks multiple exons and its 3' exon extends past a splice junction used in variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
      Source sequence(s)
      AK077837, AL954131

    2. NR_156124.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains multiple differences in its exon structure compared to variants 1 and 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL772218

    3. NR_156125.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' exon structure compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria for a locus with longer protein data.
      Source sequence(s)
      AL772218, AL935297, CX239064

    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
      17347484..17740634 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036162631.1 → XP_036018524.1  nebulette isoform X4

      Conserved Domains (4) summary
      smart00227
      Location:98 → 128
      NEBU; The Nebulin repeat is present also in Las1
      cd09447
      Location:5 → 57
      LIM_LASP; The LIM domain of LIM and SH3 Protein (LASP)
      cd11935
      Location:244 → 301
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
      pfam00880
      Location:67 → 94
      Nebulin; Nebulin repeat

    2. XM_036162630.1 → XP_036018523.1  nebulette isoform X3

      UniProtKB/TrEMBL
      B7ZCI2
      Conserved Domains (3) summary
      smart00227
      Location:499 → 529
      NEBU; The Nebulin repeat is present also in Las1
      cd11935
      Location:814 → 871
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
      pfam00880
      Location:704 → 731
      Nebulin; Nebulin repeat

    3. XM_036162629.1 → XP_036018522.1  nebulette isoform X2

      UniProtKB/TrEMBL
      B7ZCI2
      Conserved Domains (3) summary
      smart00227
      Location:499 → 529
      NEBU; The Nebulin repeat is present also in Las1
      cd11935
      Location:845 → 902
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
      pfam00880
      Location:704 → 731
      Nebulin; Nebulin repeat

    4. XM_036162632.1 → XP_036018525.1  nebulette isoform X5

      UniProtKB/TrEMBL
      B7ZCI2
      Conserved Domains (3) summary
      smart00227
      Location:499 → 529
      NEBU; The Nebulin repeat is present also in Las1
      cd11935
      Location:926 → 983
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
      pfam00880
      Location:735 → 762
      Nebulin; Nebulin repeat

    5. XM_030252125.2 → XP_030107985.1  nebulette isoform X1

      UniProtKB/TrEMBL
      B7ZCI2
      Conserved Domains (3) summary
      smart00227
      Location:464 → 494
      NEBU; The Nebulin repeat is present also in Las1
      cd11935
      Location:860 → 917
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
      pfam00880
      Location:669 → 696
      Nebulin; Nebulin repeat

    6. XM_036162627.1 → XP_036018520.1  nebulette isoform X1

      UniProtKB/TrEMBL
      B7ZCI2
      Conserved Domains (3) summary
      smart00227
      Location:464 → 494
      NEBU; The Nebulin repeat is present also in Las1
      cd11935
      Location:860 → 917
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
      pfam00880
      Location:669 → 696
      Nebulin; Nebulin repeat

    7. XM_036162628.1 → XP_036018521.1  nebulette isoform X1

      UniProtKB/TrEMBL
      B7ZCI2
      Related
      ENSMUSP00000117805.2, ENSMUST00000124270.8
      Conserved Domains (3) summary
      smart00227
      Location:464 → 494
      NEBU; The Nebulin repeat is present also in Las1
      cd11935
      Location:860 → 917
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
      pfam00880
      Location:669 → 696
      Nebulin; Nebulin repeat

    RNA

    1. XR_004940752.1 RNA Sequence

    2. XR_004940753.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q0II04.1 GenPept UniProtKB/Swiss-Prot:Q0II04
    Q9DC07.1 GenPept UniProtKB/Swiss-Prot:Q9DC07

    Gene LinkOut

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

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