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    Nebl nebulette [ Mus musculus (house mouse) ]

    Gene ID: 74103, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Biased expression in heart adult (RPKM 16.6), lung adult (RPKM 9.4) and 6 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    nebulette
    Names
    actin-binding Z-disk 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_001362722.1NP_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:464494
      NEBU; The Nebulin repeat is present also in Las1
      cd11935
      Location:860917
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
      pfam00880
      Location:669696
      Nebulin; Nebulin repeat
    2. NM_028757.3NP_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:98128
      NEBU; The Nebulin repeat is present also in Las1
      cd09447
      Location:557
      LIM_LASP; The LIM domain of LIM and SH3 Protein (LASP)
      cd11935
      Location:213270
      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_036162631.1XP_036018524.1  nebulette isoform X4

      Conserved Domains (4) summary
      smart00227
      Location:98128
      NEBU; The Nebulin repeat is present also in Las1
      cd09447
      Location:557
      LIM_LASP; The LIM domain of LIM and SH3 Protein (LASP)
      cd11935
      Location:244301
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
      pfam00880
      Location:6794
      Nebulin; Nebulin repeat
    2. XM_036162630.1XP_036018523.1  nebulette isoform X3

      UniProtKB/TrEMBL
      B7ZCI2
      Conserved Domains (3) summary
      smart00227
      Location:499529
      NEBU; The Nebulin repeat is present also in Las1
      cd11935
      Location:814871
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
      pfam00880
      Location:704731
      Nebulin; Nebulin repeat
    3. XM_036162629.1XP_036018522.1  nebulette isoform X2

      UniProtKB/TrEMBL
      B7ZCI2
      Conserved Domains (3) summary
      smart00227
      Location:499529
      NEBU; The Nebulin repeat is present also in Las1
      cd11935
      Location:845902
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
      pfam00880
      Location:704731
      Nebulin; Nebulin repeat
    4. XM_036162632.1XP_036018525.1  nebulette isoform X5

      UniProtKB/TrEMBL
      B7ZCI2
      Conserved Domains (3) summary
      smart00227
      Location:499529
      NEBU; The Nebulin repeat is present also in Las1
      cd11935
      Location:926983
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
      pfam00880
      Location:735762
      Nebulin; Nebulin repeat
    5. XM_030252125.2XP_030107985.1  nebulette isoform X1

      UniProtKB/TrEMBL
      B7ZCI2
      Conserved Domains (3) summary
      smart00227
      Location:464494
      NEBU; The Nebulin repeat is present also in Las1
      cd11935
      Location:860917
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
      pfam00880
      Location:669696
      Nebulin; Nebulin repeat
    6. XM_036162627.1XP_036018520.1  nebulette isoform X1

      UniProtKB/TrEMBL
      B7ZCI2
      Conserved Domains (3) summary
      smart00227
      Location:464494
      NEBU; The Nebulin repeat is present also in Las1
      cd11935
      Location:860917
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
      pfam00880
      Location:669696
      Nebulin; Nebulin repeat
    7. XM_036162628.1XP_036018521.1  nebulette isoform X1

      UniProtKB/TrEMBL
      B7ZCI2
      Related
      ENSMUSP00000117805.2, ENSMUST00000124270.8
      Conserved Domains (3) summary
      smart00227
      Location:464494
      NEBU; The Nebulin repeat is present also in Las1
      cd11935
      Location:860917
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
      pfam00880
      Location:669696
      Nebulin; Nebulin repeat

    RNA

    1. XR_004940752.1 RNA Sequence

    2. XR_004940753.1 RNA Sequence