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neb nebulin [ Danio rerio (zebrafish) ]

Gene ID: 566928, updated on 4-Jan-2025

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 binding activity. Involved in locomotion. Acts upstream of or within muscle cell development and regulation of sarcomere organization. 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, Jan 2025]
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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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
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