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Neb nebulin [ Rattus norvegicus (Norway rat) ]

Gene ID: 311029, updated on 13-Apr-2024

Summary

Official Symbol
Nebprovided by RGD
Official Full Name
nebulinprovided by RGD
Primary source
RGD:1311134
See related
Ensembl: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 nemaline myopathy 2. Orthologous to human NEB (nebulin). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward (RPKM 11722.2) See more
Orthologs
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Genomic context

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

Expression

  • 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

Related articles in PubMed

Pathways from PubChem

General gene information

Markers

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
 

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_001419519.1NP_001406448.1  nebulin

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000003
    Related
    ENSRNOP00000081170.1, ENSRNOT00000101520.1

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_063283589.1XP_063139659.1  nebulin isoform X28

  2. XM_039106300.1XP_038962228.1  nebulin isoform X32

    UniProtKB/TrEMBL
    A0A8I6A8Q0
    Conserved Domains (5) summary
    smart00227
    Location:41524182
    NEBU; The Nebulin repeat is present also in Las1
    PTZ00121
    Location:64346814
    PTZ00121; MAEBL; Provisional
    cd11933
    Location:71837240
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:51295156
    Nebulin; Nebulin repeat
    NF033804
    Location:270653
    Streccoc_I_II; antigen I/II family LPXTG-anchored adhesin
  3. XM_039106274.1XP_038962202.1  nebulin isoform X16

    UniProtKB/TrEMBL
    A0A8I5Y9I7, A0A8I6A8Q0
    Related
    ENSRNOP00000077426.1, ENSRNOT00000119055.1
    Conserved Domains (5) summary
    smart00227
    Location:41524182
    NEBU; The Nebulin repeat is present also in Las1
    PTZ00121
    Location:64347165
    PTZ00121; MAEBL; Provisional
    cd11933
    Location:73697426
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:51295156
    Nebulin; Nebulin repeat
    NF033804
    Location:270653
    Streccoc_I_II; antigen I/II family LPXTG-anchored adhesin
  4. XM_039106258.2XP_038962186.1  nebulin isoform X2

    UniProtKB/TrEMBL
    A0A8I5ZRN3
    Conserved Domains (4) summary
    smart00227
    Location:41524182
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:74627519
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:51295156
    Nebulin; Nebulin repeat
    NF033804
    Location:270653
    Streccoc_I_II; antigen I/II family LPXTG-anchored adhesin
  5. XM_063283606.1XP_063139676.1  nebulin isoform X46

  6. XM_063283605.1XP_063139675.1  nebulin isoform X45

  7. XM_063283578.1XP_063139648.1  nebulin isoform X15

  8. XM_063283603.1XP_063139673.1  nebulin isoform X43

  9. XM_063283602.1XP_063139672.1  nebulin isoform X42

  10. XM_063283600.1XP_063139670.1  nebulin isoform X40

  11. XM_063283597.1XP_063139667.1  nebulin isoform X37

  12. XM_063283573.1XP_063139643.1  nebulin isoform X10

  13. XM_063283604.1XP_063139674.1  nebulin isoform X44

  14. XM_063283601.1XP_063139671.1  nebulin isoform X41

  15. XM_063283598.1XP_063139668.1  nebulin isoform X38

  16. XM_063283594.1XP_063139664.1  nebulin isoform X34

  17. XM_063283574.1XP_063139644.1  nebulin isoform X11

  18. XM_063283599.1XP_063139669.1  nebulin isoform X39

  19. XM_063283596.1XP_063139666.1  nebulin isoform X36

  20. XM_063283593.1XP_063139663.1  nebulin isoform X33

  21. XM_063283572.1XP_063139642.1  nebulin isoform X9

  22. XM_063283595.1XP_063139665.1  nebulin isoform X35

  23. XM_063283592.1XP_063139662.1  nebulin isoform X31

  24. XM_063283590.1XP_063139660.1  nebulin isoform X29

  25. XM_063283588.1XP_063139658.1  nebulin isoform X27

  26. XM_063283586.1XP_063139656.1  nebulin isoform X25

  27. XM_063283584.1XP_063139654.1  nebulin isoform X23

  28. XM_063283571.1XP_063139641.1  nebulin isoform X8

  29. XM_063283591.1XP_063139661.1  nebulin isoform X30

  30. XM_063283585.1XP_063139655.1  nebulin isoform X24

  31. XM_063283582.1XP_063139652.1  nebulin isoform X21

  32. XM_063283570.1XP_063139640.1  nebulin isoform X7

  33. XM_063283583.1XP_063139653.1  nebulin isoform X22

  34. XM_039106281.1XP_038962209.1  nebulin isoform X19

    UniProtKB/TrEMBL
    A0A8I5ZQE8
    Related
    ENSRNOP00000076693.1, ENSRNOT00000103859.1
    Conserved Domains (5) summary
    smart00227
    Location:41524182
    NEBU; The Nebulin repeat is present also in Las1
    PTZ00121
    Location:64347134
    PTZ00121; MAEBL; Provisional
    cd11933
    Location:73387395
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:51295156
    Nebulin; Nebulin repeat
    NF033804
    Location:270653
    Streccoc_I_II; antigen I/II family LPXTG-anchored adhesin
  35. XM_063283580.1XP_063139650.1  nebulin isoform X18

  36. XM_063283579.1XP_063139649.1  nebulin isoform X17

  37. XM_063283569.1XP_063139639.1  nebulin isoform X6

  38. XM_063283587.1XP_063139657.1  nebulin isoform X26

  39. XM_063283581.1XP_063139651.1  nebulin isoform X20

  40. XM_063283577.1XP_063139647.1  nebulin isoform X14

  41. XM_063283567.1XP_063139637.1  nebulin isoform X4

  42. XM_063283575.1XP_063139645.1  nebulin isoform X12

  43. XM_063283566.1XP_063139636.1  nebulin isoform X3

  44. XM_063283576.1XP_063139646.1  nebulin isoform X13

  45. XM_063283568.1XP_063139638.1  nebulin isoform X5

    UniProtKB/TrEMBL
    A0A096MK15
  46. XM_039106259.2XP_038962187.1  nebulin isoform X1

    UniProtKB/TrEMBL
    F1M1J2
    Related
    ENSRNOP00000068343.2
    Conserved Domains (4) summary
    smart00227
    Location:41524182
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:74627519
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:51295156
    Nebulin; Nebulin repeat
    NF033804
    Location:270653
    Streccoc_I_II; antigen I/II family LPXTG-anchored adhesin
  47. XM_063283607.1XP_063139677.1  nebulin isoform X47

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.