U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    Nebl nebulette [ Rattus norvegicus (Norway rat) ]

    Gene ID: 307189, updated on 9-Dec-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    Neblprovided by RGD
    Official Full Name
    nebuletteprovided by RGD
    Primary source
    RGD:1308315
    See related
    EnsemblRapid:ENSRNOG00000049452 AllianceGenome:RGD:1308315
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Lasp-2
    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. 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 (RPKM 1121.0), Lung (RPKM 134.5) and 1 other tissue See more
    Orthologs
    human mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See Nebl in Genome Data Viewer
    Location:
    17q12.3
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 17 NC_086035.1 (85022953..85374848, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 17 NC_051352.1 (80113891..80466331, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 17 NC_005116.4 (84141014..84247038, complement)

    Chromosome 17 - NC_086035.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC134482614 Neighboring gene uncharacterized LOC134482615 Neighboring gene actin, beta, pseudogene 3 Neighboring gene uncharacterized LOC102553115

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis. Purevjav E, et al. J Am Coll Cardiol, 2010 Oct 26. PMID 20951326, Free PMC Article
    2. The nebulette repeat domain is necessary for proper maintenance of tropomyosin with the cardiac sarcomere. Bonzo JR, et al. Exp Cell Res, 2008 Nov 15. PMID 18823973
    3. Targeted disruption of nebulette protein expression alters cardiac myofibril assembly and function. Moncman CL, et al. Exp Cell Res, 2002 Feb 15. PMID 11822876
    4. Characterization of the human nebulette gene: a polymorphism in an actin-binding motif is associated with nonfamilial idiopathic dilated cardiomyopathy. Arimura T, et al. Hum Genet, 2000 Nov. PMID 11140941
    5. Functional dissection of nebulette demonstrates actin binding of nebulin-like repeats and Z-line targeting of SH3 and linker domains. Moncman CL, et al. Cell Motil Cytoskeleton, 1999. PMID 10470015

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    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 cytoskeletal protein binding ISS
    Inferred from Sequence or Structural Similarity
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cardiac muscle thin filament assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cardiac muscle thin filament assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Z disc ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in Z disc ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in stress fiber ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in stress fiber ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    nebulette

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    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_001389243.1 → NP_001376172.1  nebulette

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000017
      UniProtKB/TrEMBL
      A0A0G2JWS2
      Related
      ENSRNOP00000069994.2, ENSRNOT00000082549.3
      Conserved Domains (4) summary
      smart00227
      Location:499 → 529
      NEBU; The Nebulin repeat is present also in Las1
      PTZ00121
      Location:361 → 681
      PTZ00121; MAEBL; Provisional
      cd11935
      Location:895 → 952
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
      pfam00880
      Location:704 → 731
      Nebulin; Nebulin repeat

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086035.1 Reference GRCr8

      Range
      85022953..85374848 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039095827.2 → XP_038951755.1  nebulette isoform X6

      UniProtKB/TrEMBL
      A0A146J2K6, A0A8I5ZZ91, A6JM82
      Related
      ENSRNOP00000101527.1, ENSRNOT00000153710.1
      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)

    2. XM_063276524.1 → XP_063132594.1  nebulette isoform X5

    3. XM_063276525.1 → XP_063132595.1  nebulette isoform X7

      UniProtKB/TrEMBL
      A0A8I6ASI6

    4. XM_039095820.2 → XP_038951748.1  nebulette isoform X1

      UniProtKB/TrEMBL
      A0A0G2JWS2
      Conserved Domains (4) summary
      smart00227
      Location:499 → 529
      NEBU; The Nebulin repeat is present also in Las1
      PTZ00121
      Location:361 → 681
      PTZ00121; MAEBL; Provisional
      cd11935
      Location:895 → 952
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
      pfam00880
      Location:704 → 731
      Nebulin; Nebulin repeat

    5. XM_063276522.1 → XP_063132592.1  nebulette isoform X3

      Related
      ENSRNOP00000103393.1, ENSRNOT00000133444.1

    6. XM_063276521.1 → XP_063132591.1  nebulette isoform X2

    7. XM_063276523.1 → XP_063132593.1  nebulette isoform X4

      UniProtKB/TrEMBL
      A0A8I6B580
      Related
      ENSRNOP00000097039.1, ENSRNOT00000112505.2

    8. XM_039095822.2 → XP_038951750.1  nebulette isoform X1

      UniProtKB/TrEMBL
      A0A0G2JWS2
      Conserved Domains (4) summary
      smart00227
      Location:499 → 529
      NEBU; The Nebulin repeat is present also in Las1
      PTZ00121
      Location:361 → 681
      PTZ00121; MAEBL; Provisional
      cd11935
      Location:895 → 952
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
      pfam00880
      Location:704 → 731
      Nebulin; Nebulin repeat

    9. XM_063276526.1 → XP_063132596.1  nebulette isoform X8

      UniProtKB/TrEMBL
      A0A0G2JWS2

    10. XM_039095825.2 → XP_038951753.1  nebulette isoform X3

      Conserved Domains (4) summary
      smart00227
      Location:32 → 60
      NEBU; The Nebulin repeat is present also in Las1
      PTZ00121
      Location:114 → 646
      PTZ00121; MAEBL; Provisional
      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

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001191694.1: Suppressed sequence

      Description
      NM_001191694.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein Strain
    Heading Accession and Version

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials