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Nebl nebulette [ Mus musculus (house mouse) ]

Gene ID: 74103, updated on 5-Mar-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 stress fiber. Predicted to be active in Z disc. Is expressed in brain and genitourinary system. Human ortholog(s) of this gene implicated in dilated cardiomyopathy. Orthologous to human NEBL (nebulette). [provided by Alliance of Genome Resources, Apr 2022]
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. 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
  4. 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
  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 (29) 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.
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Variation

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Alleles

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

Clone Names

  • MGC118387

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables actin binding IEA
Inferred from Electronic Annotation
more info
  
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 metal ion binding IEA
Inferred from Electronic Annotation
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 cytoplasm IEA
Inferred from Electronic Annotation
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

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