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    neb nebulin [ Danio rerio (zebrafish) ]

    Gene ID: 566928, updated on 9-Dec-2024

    Summary

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    Official Symbol
    nebprovided by ZNC
    Official Full Name
    nebulinprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-041111-216
    See related
    Ensembl:ENSDARG00000032630 AllianceGenome:ZFIN:ZDB-GENE-041111-216
    Gene type
    protein coding
    RefSeq status
    MODEL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    im:6904860; im:7001777; im:7144538; im:7150492; wu:fc33b04; si:ch211-168m7.5
    Summary
    Predicted to enable actin filament binding activity. Involved in locomotion. Acts upstream of or within muscle cell development and regulation of sarcomere organization. Predicted to be active in Z disc. Is expressed in adaxial cell; heart; musculature system; pectoral fin; and somite. Used to study nemaline myopathy. 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, Dec 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See neb in Genome Data Viewer
    Location:
    chromosome: 9
    Exon count:
    140
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 9 NC_007120.7 (22805140..22892845, complement)
    105 previous assembly GRCz10 (GCF_000002035.5) 9 NC_007120.6 (22994269..23081965, complement)

    Chromosome 9 - NC_007120.7Genomic Context describing neighboring genes Neighboring gene tumor necrosis factor, alpha-induced protein 6 Neighboring gene replication timing regulatory factor 1 Neighboring gene ADP-ribosylation factor-like 5A Neighboring gene translin

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Neb: a zebrafish model of nemaline myopathy due to nebulin mutation. Telfer WR, et al. Dis Model Mech, 2012 May. PMID 22159874, Free PMC Article
    2. Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy. Fabian L, et al. Hum Mol Genet, 2024 Jun 5. PMID 38493359, Free PMC Article
    3. The number of Z-repeats and super-repeats in nebulin greatly varies across vertebrates and scales with animal size. Gohlke J, et al. J Gen Physiol, 2021 Mar 1. PMID 33337482, Free PMC Article
    4. Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy. Sztal TE, et al. Acta Neuropathol Commun, 2018 May 30. PMID 29848386, Free PMC Article
    5. NRAP reduction rescues sarcomere defects in nebulin-related nemaline myopathy. Casey JG, et al. Hum Mol Genet, 2023 May 5. PMID 36661122, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy.
      Title: Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy.
    2. neb zebrafish mirror the genetic, clinical and pathological aspects of nemaline myopathy due to NEB mutation.
      Title: Neb: a zebrafish model of nemaline myopathy due to nebulin mutation.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in locomotion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within muscle cell development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of sarcomere organization IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of sarcomere organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    nebulin

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007120.7 Reference GRCz11 Primary Assembly

      Range
      22805140..22892845 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_068223599.1 → XP_068079700.1  nebulin isoform X19

      UniProtKB/TrEMBL
      A0A8M6Z2Q5

    2. XM_021478907.2 → XP_021334582.1  nebulin isoform X23

      UniProtKB/TrEMBL
      A0A8M9PSR3, A0A8M9Q4N2
      Conserved Domains (3) summary
      smart00227
      Location:4885 → 4915
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:5521 → 5578
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:3593 → 3618
      Nebulin; Nebulin repeat

    3. XM_017357800.3 → XP_017213289.1  nebulin isoform X22

      UniProtKB/TrEMBL
      A0A8M6Z861, A0A8M9QK37
      Conserved Domains (3) summary
      smart00227
      Location:3621 → 3651
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:5921 → 5978
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:4322 → 4347
      Nebulin; Nebulin repeat

    4. XM_017357784.3 → XP_017213273.1  nebulin isoform X3

      UniProtKB/TrEMBL
      A0A8M6Z848, A0A8M9PS34

    5. XM_017357799.3 → XP_017213288.1  nebulin isoform X21

      UniProtKB/TrEMBL
      A0A8M9PF90, A0A8M9PY88
      Conserved Domains (3) summary
      smart00227
      Location:3621 → 3651
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:5951 → 6008
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:4322 → 4347
      Nebulin; Nebulin repeat

    6. XM_017357794.3 → XP_017213283.1  nebulin isoform X17

      UniProtKB/TrEMBL
      A0A8M6Z857, A0A8M9PF90

    7. XM_017357790.3 → XP_017213279.1  nebulin isoform X13

      UniProtKB/TrEMBL
      A0A8M6Z124, A0A8M9PF90

    8. XM_021478903.2 → XP_021334578.1  nebulin isoform X10

      UniProtKB/TrEMBL
      A0A8M9PY72, A0A8M9Q4Z7
      Conserved Domains (3) summary
      smart00227
      Location:3621 → 3651
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:6178 → 6235
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:4322 → 4347
      Nebulin; Nebulin repeat

    9. XM_017357787.3 → XP_017213276.1  nebulin isoform X7

      UniProtKB/TrEMBL
      A0A8M6Z8K2, A0A8M9Q965

    10. XM_017357798.3 → XP_017213287.1  nebulin isoform X20

      UniProtKB/TrEMBL
      A0A8M6Z8L2, A0A8M9Q969
      Conserved Domains (3) summary
      smart00227
      Location:5614 → 5644
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:5986 → 6043
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:4322 → 4347
      Nebulin; Nebulin repeat

    11. XM_017357795.3 → XP_017213284.1  nebulin isoform X18

      UniProtKB/TrEMBL
      A0A8M9Q4M9, A0A8M9Q969
      Conserved Domains (3) summary
      smart00227
      Location:5614 → 5644
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:6017 → 6074
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:4322 → 4347
      Nebulin; Nebulin repeat

    12. XM_017357789.3 → XP_017213278.1  nebulin isoform X11

      UniProtKB/TrEMBL
      A0A8M6Z852, A0A8M9Q969

    13. XM_021478902.2 → XP_021334577.1  nebulin isoform X8

      UniProtKB/TrEMBL
      A0A8M9PSQ6, A0A8M9Q4M0
      Conserved Domains (3) summary
      smart00227
      Location:5614 → 5644
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:6213 → 6270
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:4322 → 4347
      Nebulin; Nebulin repeat

    14. XM_017357793.3 → XP_017213282.1  nebulin isoform X16

      UniProtKB/TrEMBL
      A0A8M9PF90, A0A8M9PY77
      Conserved Domains (3) summary
      smart00227
      Location:5614 → 5644
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:6060 → 6117
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:4322 → 4347
      Nebulin; Nebulin repeat

    15. XM_017357792.3 → XP_017213281.1  nebulin isoform X15

      UniProtKB/TrEMBL
      A0A8M6Z8K7, A0A8M9PF90
      Conserved Domains (3) summary
      smart00227
      Location:5614 → 5644
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:6091 → 6148
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:4322 → 4347
      Nebulin; Nebulin repeat

    16. XM_017357791.3 → XP_017213280.1  nebulin isoform X14

      UniProtKB/TrEMBL
      A0A8M6Z2Q0, A0A8M9PS34
      Related
      ENSDARP00000117320.1, ENSDART00000143888.3
      Conserved Domains (3) summary
      smart00227
      Location:5614 → 5644
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:6126 → 6183
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:4322 → 4347
      Nebulin; Nebulin repeat

    17. XM_021478904.2 → XP_021334579.1  nebulin isoform X12

      UniProtKB/TrEMBL
      A0A8M9PF84, A0A8M9PS34
      Conserved Domains (3) summary
      smart00227
      Location:5614 → 5644
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:6157 → 6214
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:4322 → 4347
      Nebulin; Nebulin repeat

    18. XM_017357788.3 → XP_017213277.1  nebulin isoform X9

      UniProtKB/TrEMBL
      A0A8M6Z0E9, A0A8M9PS34

    19. XM_017357786.3 → XP_017213275.1  nebulin isoform X4

      UniProtKB/TrEMBL
      A0A8M6Z2P4, A0A8M9PS34

    20. XM_021478901.2 → XP_021334576.1  nebulin isoform X5

      UniProtKB/TrEMBL
      A0A8M9PS34, A0A8M9QFX3
      Conserved Domains (3) summary
      smart00227
      Location:5614 → 5644
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:6219 → 6276
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:4322 → 4347
      Nebulin; Nebulin repeat

    21. XM_009304675.4 → XP_009302950.1  nebulin isoform X1

      UniProtKB/TrEMBL
      A0A8M3B5M2, A0A8M9PS34
      Conserved Domains (3) summary
      smart00227
      Location:5614 → 5644
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:6250 → 6307
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:571 → 597
      Nebulin; Nebulin repeat

    22. XM_017357785.3 → XP_017213274.1  nebulin isoform X6

      UniProtKB/TrEMBL
      A0A8M6Z118, A0A8M9PY67

    23. XM_017357783.3 → XP_017213272.1  nebulin isoform X2

      UniProtKB/TrEMBL
      A0A8M6Z0E1, A0A8M9PF78

    Reference GRCz11 ALT_DRER_TU_2

    Genomic

    1. NW_018395279.1 Reference GRCz11 ALT_DRER_TU_2

      Range
      336531..424213 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_068219266.1 → XP_068075367.1  nebulin isoform X19

      UniProtKB/TrEMBL
      A0A8M6Z2Q5

    2. XM_068219267.1 → XP_068075368.1  nebulin isoform X23

      UniProtKB/TrEMBL
      A0A8M9Q4N2

    3. XM_021474180.2 → XP_021329855.1  nebulin isoform X22

      UniProtKB/TrEMBL
      A0A8M6Z861, A0A8M9QK37
      Conserved Domains (3) summary
      smart00227
      Location:3621 → 3651
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:5921 → 5978
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:4322 → 4347
      Nebulin; Nebulin repeat

    4. XM_068219252.1 → XP_068075353.1  nebulin isoform X3

      UniProtKB/TrEMBL
      A0A8M9PS34

    5. XM_021474179.2 → XP_021329854.1  nebulin isoform X21

      UniProtKB/TrEMBL
      A0A8M9PF90, A0A8M9PY88
      Conserved Domains (3) summary
      smart00227
      Location:3621 → 3651
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:5951 → 6008
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:4322 → 4347
      Nebulin; Nebulin repeat

    6. XM_068219265.1 → XP_068075366.1  nebulin isoform X13

      UniProtKB/TrEMBL
      A0A8M9PF90

    7. XM_068219261.1 → XP_068075362.1  nebulin isoform X10

      UniProtKB/TrEMBL
      A0A8M9PY72

    8. XM_068219256.1 → XP_068075357.1  nebulin isoform X7

      UniProtKB/TrEMBL
      A0A8M9Q965

    9. XM_021474177.2 → XP_021329852.1  nebulin isoform X20

      UniProtKB/TrEMBL
      A0A8M6Z8L2, A0A8M9Q969
      Conserved Domains (3) summary
      smart00227
      Location:5614 → 5644
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:5986 → 6043
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:4322 → 4347
      Nebulin; Nebulin repeat

    10. XM_021474176.2 → XP_021329851.1  nebulin isoform X18

      UniProtKB/TrEMBL
      A0A8M9Q4M9, A0A8M9Q969
      Conserved Domains (3) summary
      smart00227
      Location:5614 → 5644
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:6017 → 6074
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:4322 → 4347
      Nebulin; Nebulin repeat

    11. XM_068219262.1 → XP_068075363.1  nebulin isoform X11

      UniProtKB/TrEMBL
      A0A8M9Q969

    12. XM_068219257.1 → XP_068075358.1  nebulin isoform X8

      UniProtKB/TrEMBL
      A0A8M9Q4M0

    13. XM_021474174.2 → XP_021329849.1  nebulin isoform X16

      UniProtKB/TrEMBL
      A0A8M9PF90, A0A8M9PY77
      Conserved Domains (3) summary
      smart00227
      Location:5614 → 5644
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:6060 → 6117
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:4322 → 4347
      Nebulin; Nebulin repeat

    14. XM_021474173.2 → XP_021329848.1  nebulin isoform X15

      UniProtKB/TrEMBL
      A0A8M6Z8K7, A0A8M9PF90
      Conserved Domains (3) summary
      smart00227
      Location:5614 → 5644
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:6091 → 6148
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:4322 → 4347
      Nebulin; Nebulin repeat

    15. XM_021474171.2 → XP_021329846.1  nebulin isoform X14

      UniProtKB/TrEMBL
      A0A8M6Z2Q0, A0A8M9PS34
      Conserved Domains (3) summary
      smart00227
      Location:5614 → 5644
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:6126 → 6183
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:4322 → 4347
      Nebulin; Nebulin repeat

    16. XM_021474167.2 → XP_021329842.1  nebulin isoform X12

      UniProtKB/TrEMBL
      A0A8M9PF84, A0A8M9PS34
      Conserved Domains (3) summary
      smart00227
      Location:5614 → 5644
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:6157 → 6214
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:4322 → 4347
      Nebulin; Nebulin repeat

    17. XM_021474168.2 → XP_021329843.1  nebulin isoform X29

      UniProtKB/TrEMBL
      A0A8M9PS34, A0A8M9PS40
      Conserved Domains (3) summary
      smart00227
      Location:5614 → 5644
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:6145 → 6202
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:4322 → 4347
      Nebulin; Nebulin repeat

    18. XM_068219263.1 → XP_068075364.1  nebulin isoform X27

      UniProtKB/TrEMBL
      A0A8M9PS34

    19. XM_068219260.1 → XP_068075361.1  nebulin isoform X9

      UniProtKB/TrEMBL
      A0A8M9PS34

    20. XM_068219264.1 → XP_068075365.1  nebulin isoform X28

      UniProtKB/TrEMBL
      A0A8M9PS34

    21. XM_068219259.1 → XP_068075360.1  nebulin isoform X26

      UniProtKB/TrEMBL
      A0A8M9PS34

    22. XM_068219253.1 → XP_068075354.1  nebulin isoform X4

      UniProtKB/TrEMBL
      A0A8M9PS34

    23. XM_021474161.2 → XP_021329836.1  nebulin isoform X25

      UniProtKB/TrEMBL
      A0A8M9PS34, A0A8M9Q4L7
      Conserved Domains (3) summary
      smart00227
      Location:5614 → 5644
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:6207 → 6264
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:4322 → 4347
      Nebulin; Nebulin repeat

    24. XM_068219251.1 → XP_068075352.1  nebulin isoform X24

      UniProtKB/TrEMBL
      A0A8M9PS34

    25. XM_068219254.1 → XP_068075355.1  nebulin isoform X5

      UniProtKB/TrEMBL
      A0A8M9PS34

    26. XM_068219249.1 → XP_068075350.1  nebulin isoform X1

      UniProtKB/TrEMBL
      A0A8M9PS34

    27. XM_068219255.1 → XP_068075356.1  nebulin isoform X6

      UniProtKB/TrEMBL
      A0A8M9PY67

    28. XM_068219250.1 → XP_068075351.1  nebulin isoform X2

      UniProtKB/TrEMBL
      A0A8M9PF78
    Nucleotide Protein Strain
    Heading Accession and Version

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