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    Neb nebulin [ Rattus norvegicus (Norway rat) ]

    Gene ID: 311029, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Nebprovided by RGD
    Official Full Name
    nebulinprovided by RGD
    Primary source
    RGD:1311134
    See related
    EnsemblRapid:ENSRNOG00000006783 AllianceGenome:RGD:1311134
    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
    Summary
    Predicted to enable actin filament binding activity. Predicted to be involved in cardiac muscle thin filament assembly. Located in myofibril. Human ortholog(s) of this gene implicated in arthrogryposis multiplex congenita-6 and nemaline myopathy 2. Orthologous to human NEB (nebulin). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward (RPKM 11722.2) See more
    Orthologs
    human mouse all
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    Genomic context

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    See Neb in Genome Data Viewer
    Location:
    3q12
    Exon count:
    166
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 3 NC_086021.1 (57022822..57220752, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 3 NC_051338.1 (36613677..36811618, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 3 NC_005102.4 (37658081..37855843, complement)

    Chromosome 3 - NC_086021.1Genomic Context describing neighboring genes Neighboring gene TNF alpha induced protein 6 Neighboring gene replication timing regulatory factor 1 Neighboring gene transfer RNA alanine (anticodon AGC) 59 Neighboring gene uncharacterized LOC120101548 Neighboring gene myosin light chain 6, pseudogene 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Comparative decline of the protein profiles of nebulin in response to denervation in skeletal muscle. Wei JH, et al. Biochem Biophys Res Commun, 2015 Oct 9. PMID 26325472
    2. Nebulin isoforms of extraocular muscle. Moncman CL, et al. Cell Tissue Res, 2007 Feb. PMID 17053899
    3. Nebulin regulation of actin filament lengths: new angles. Horowits R. Trends Cell Biol, 2006 Mar. PMID 16480876
    4. Nebulin regulates the assembly and lengths of the thin filaments in striated muscle. McElhinny AS, et al. J Cell Biol, 2005 Sep 12. PMID 16157704, Free PMC Article
    5. Detection of myofibrillar proteins using a step gradient minigel with an ambiguous interface. Chen SP, et al. Anal Biochem, 2005 Mar 15. PMID 15745747

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The results revealed that denervation induced muscle atrophy is accompanied by decreased nebulin content in a time-dependent manner.
      Title: Comparative decline of the protein profiles of nebulin in response to denervation in skeletal muscle.
    2. Nebulin interacts with CapZ to from a thin filament of an adjacent sarcomere, thus providing a structural link between sarcomeres.
      Title: Nebulin interacts with CapZ and regulates thin filament architecture within the Z-disc.
    3. Extraocular muscle does not express nebulette and contains a nebulin isoform with a mass consistent with that found in the prototypical fast hindlimb muscle extensor digitorum longus.
      Title: Nebulin isoforms of extraocular muscle.
    4. Nebulin regulates the assembly and lengths of the thin filaments in striated muscle.
      Title: Nebulin regulates the assembly and lengths of the thin filaments in striated muscle.
    5. Nebulin knockdown leads to loss of actin filament-length regulation in cardiomyocytes, providing functional evidence that is consistent with the molecular ruler concept.
      Title: Nebulin regulation of actin filament lengths: new angles.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    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 Z disc ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in contractile muscle fiber ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in myofibril IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    nebulin

    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_001419519.1 → NP_001406448.1  nebulin

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000003
      Related
      ENSRNOP00000056216.6, ENSRNOT00000059461.7

    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_086021.1 Reference GRCr8

      Range
      57022822..57220752 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063283589.1 → XP_063139659.1  nebulin isoform X28

    2. XM_039106300.1 → XP_038962228.1  nebulin isoform X32

      UniProtKB/TrEMBL
      A0A8I6A8Q0
      Related
      ENSRNOP00000088131.2, ENSRNOT00000103661.2
      Conserved Domains (5) summary
      smart00227
      Location:4152 → 4182
      NEBU; The Nebulin repeat is present also in Las1
      PTZ00121
      Location:6434 → 6814
      PTZ00121; MAEBL; Provisional
      cd11933
      Location:7183 → 7240
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:5129 → 5156
      Nebulin; Nebulin repeat
      NF033804
      Location:270 → 653
      Streccoc_I_II; antigen I/II family LPXTG-anchored adhesin

    3. XM_039106274.1 → XP_038962202.1  nebulin isoform X16

      UniProtKB/TrEMBL
      A0A8I5Y9I7, A0A8I6A8Q0
      Conserved Domains (5) summary
      smart00227
      Location:4152 → 4182
      NEBU; The Nebulin repeat is present also in Las1
      PTZ00121
      Location:6434 → 7165
      PTZ00121; MAEBL; Provisional
      cd11933
      Location:7369 → 7426
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:5129 → 5156
      Nebulin; Nebulin repeat
      NF033804
      Location:270 → 653
      Streccoc_I_II; antigen I/II family LPXTG-anchored adhesin

    4. XM_039106258.2 → XP_038962186.1  nebulin isoform X2

      UniProtKB/TrEMBL
      A0A8I5ZRN3
      Conserved Domains (4) summary
      smart00227
      Location:4152 → 4182
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:7462 → 7519
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:5129 → 5156
      Nebulin; Nebulin repeat
      NF033804
      Location:270 → 653
      Streccoc_I_II; antigen I/II family LPXTG-anchored adhesin

    5. XM_063283606.1 → XP_063139676.1  nebulin isoform X46

      Related
      ENSRNOP00000077426.2, ENSRNOT00000119055.2

    6. XM_063283605.1 → XP_063139675.1  nebulin isoform X45

    7. XM_063283578.1 → XP_063139648.1  nebulin isoform X15

    8. XM_063283603.1 → XP_063139673.1  nebulin isoform X43

    9. XM_063283602.1 → XP_063139672.1  nebulin isoform X42

    10. XM_063283600.1 → XP_063139670.1  nebulin isoform X40

    11. XM_063283597.1 → XP_063139667.1  nebulin isoform X37

    12. XM_063283573.1 → XP_063139643.1  nebulin isoform X10

    13. XM_063283604.1 → XP_063139674.1  nebulin isoform X44

    14. XM_063283601.1 → XP_063139671.1  nebulin isoform X41

    15. XM_063283598.1 → XP_063139668.1  nebulin isoform X38

    16. XM_063283594.1 → XP_063139664.1  nebulin isoform X34

    17. XM_063283574.1 → XP_063139644.1  nebulin isoform X11

    18. XM_063283599.1 → XP_063139669.1  nebulin isoform X39

    19. XM_063283596.1 → XP_063139666.1  nebulin isoform X36

    20. XM_063283593.1 → XP_063139663.1  nebulin isoform X33

    21. XM_063283572.1 → XP_063139642.1  nebulin isoform X9

    22. XM_063283595.1 → XP_063139665.1  nebulin isoform X35

    23. XM_063283592.1 → XP_063139662.1  nebulin isoform X31

    24. XM_063283590.1 → XP_063139660.1  nebulin isoform X29

    25. XM_063283588.1 → XP_063139658.1  nebulin isoform X27

      Related
      ENSRNOP00000080810.2, ENSRNOT00000100063.2

    26. XM_063283586.1 → XP_063139656.1  nebulin isoform X25

    27. XM_063283584.1 → XP_063139654.1  nebulin isoform X23

    28. XM_063283571.1 → XP_063139641.1  nebulin isoform X8

    29. XM_063283591.1 → XP_063139661.1  nebulin isoform X30

    30. XM_063283585.1 → XP_063139655.1  nebulin isoform X24

    31. XM_063283582.1 → XP_063139652.1  nebulin isoform X21

    32. XM_063283570.1 → XP_063139640.1  nebulin isoform X7

    33. XM_063283583.1 → XP_063139653.1  nebulin isoform X22

    34. XM_039106281.1 → XP_038962209.1  nebulin isoform X19

      UniProtKB/TrEMBL
      A0A8I5ZQE8
      Related
      ENSRNOP00000076693.2, ENSRNOT00000103859.2
      Conserved Domains (5) summary
      smart00227
      Location:4152 → 4182
      NEBU; The Nebulin repeat is present also in Las1
      PTZ00121
      Location:6434 → 7134
      PTZ00121; MAEBL; Provisional
      cd11933
      Location:7338 → 7395
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:5129 → 5156
      Nebulin; Nebulin repeat
      NF033804
      Location:270 → 653
      Streccoc_I_II; antigen I/II family LPXTG-anchored adhesin

    35. XM_063283580.1 → XP_063139650.1  nebulin isoform X18

    36. XM_063283579.1 → XP_063139649.1  nebulin isoform X17

      Related
      ENSRNOP00000097548.2, ENSRNOT00000113261.2

    37. XM_063283569.1 → XP_063139639.1  nebulin isoform X6

      Related
      ENSRNOP00000068343.3, ENSRNOT00000076095.4

    38. XM_063283587.1 → XP_063139657.1  nebulin isoform X26

    39. XM_063283581.1 → XP_063139651.1  nebulin isoform X20

    40. XM_063283577.1 → XP_063139647.1  nebulin isoform X14

    41. XM_063283567.1 → XP_063139637.1  nebulin isoform X4

    42. XM_063283575.1 → XP_063139645.1  nebulin isoform X12

    43. XM_063283566.1 → XP_063139636.1  nebulin isoform X3

    44. XM_063283576.1 → XP_063139646.1  nebulin isoform X13

    45. XM_063283568.1 → XP_063139638.1  nebulin isoform X5

      UniProtKB/TrEMBL
      A0A096MK15

    46. XM_039106259.2 → XP_038962187.1  nebulin isoform X1

      UniProtKB/TrEMBL
      F1M1J2
      Conserved Domains (4) summary
      smart00227
      Location:4152 → 4182
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:7462 → 7519
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:5129 → 5156
      Nebulin; Nebulin repeat
      NF033804
      Location:270 → 653
      Streccoc_I_II; antigen I/II family LPXTG-anchored adhesin

    47. XM_063283607.1 → XP_063139677.1  nebulin isoform X47

      Related
      ENSRNOP00000081170.1, ENSRNOT00000101520.2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001107731.1: Suppressed sequence

      Description
      NM_001107731.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein Strain
    Heading Accession and Version

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