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NEB nebulin [ Homo sapiens (human) ]

Gene ID: 4703, updated on 16-Apr-2024

Summary

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Official Symbol
NEBprovided by HGNC
Official Full Name
nebulinprovided by HGNC
Primary source
HGNC:HGNC:7720
See related
Ensembl:ENSG00000183091 MIM:161650; AllianceGenome:HGNC:7720
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AMC6; NEM2; NEB177D
Summary
This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]
Expression
Biased expression in prostate (RPKM 10.5), esophagus (RPKM 3.3) and 4 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
2q23.3
Exon count:
183
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (151485339..151734476, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (151937128..152186240, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (152341853..152590990, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16636 Neighboring gene microRNA 4773-1 Neighboring gene microRNA 4773-2 Neighboring gene RNA, 7SL, cytoplasmic 124, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:152265327-152266025 Neighboring gene TNF alpha induced protein 6 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:152266026-152266724 Neighboring gene replication timing regulatory factor 1 Neighboring gene uncharacterized LOC124906081 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:152410007-152411206 Neighboring gene Sharpr-MPRA regulatory region 15124 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:152560612-152561164 Neighboring gene CRISPRi-validated cis-regulatory element chr2.5074 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12007 Neighboring gene NEB-ARL5A intergenic CAGE-defined B cell enhancer Neighboring gene Sharpr-MPRA regulatory region 4301 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16639 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16640 Neighboring gene ADP ribosylation factor like GTPase 5A Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:152731461-152732134 Neighboring gene calcium voltage-gated channel auxiliary subunit beta 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:152770214-152770417 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:152771361-152771862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:152835433-152835977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:152857391-152857891 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16642 Neighboring gene NANOG hESC enhancer GRCh37_chr2:152890844-152891419 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:152906636-152907257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:152910243-152910744 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12010

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene. Ma Y, et al. Stem Cell Res, 2020 Mar. PMID 32062132
  2. A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review. Wen Q, et al. Acta Neurol Belg, 2020 Dec. PMID 31696431
  3. Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation. Lam LT, et al. Sci Rep, 2018 Oct 24. PMID 30356055, Free PMC Article
  4. Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita. Feingold-Zadok M, et al. Prenat Diagn, 2017 Feb. PMID 27933661
  5. New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. Piga D, et al. J Mol Neurosci, 2016 Jul. PMID 27105866

See all (92) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.
    Title: Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.
  2. Variants in NEB and RIF1 genes on chr2q23 are associated with skeletal muscle index in Koreans: genome-wide association study.
    Title: Variants in NEB and RIF1 genes on chr2q23 are associated with skeletal muscle index in Koreans: genome-wide association study.
  3. Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy.
    Title: Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy.
  4. A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review.
    Title: A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review.
  5. An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene.
    Title: An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene.
  6. Bioinformatics Analysis and High-Throughput Sequencing to Identify Differentially Expressed Genes in Nebulin Gene (NEB) Mutations Mice.
    Title: Bioinformatics Analysis and High-Throughput Sequencing to Identify Differentially Expressed Genes in Nebulin Gene (NEB) Mutations Mice.
  7. nebulin containing exon 144 is the default isoform early in myogenesis, while regulated expression of nebulin containing exon 143 occurs at later stages of muscle development
    Title: Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation.
  8. Genes associated with Nemaline Myopathy were sequenced. Four mutations in NEB (c.17779_17780delTA, c.11086A>C, c.21076C>T and c.2310+5G>A) and one mutation in ACTA1 (c.871A>T) were found in four patients. Three of the four mutations in NEB were novel. A cDNA sequencing assay of the novel variants c.17779_17780delTA, c.11086A>C and c.2310+5G>A revealed that the intronic variant c.2310+5G>A affected the splicing process.
    Title: New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy.
  9. NEB gene should be included in genetic panels for fetal akinesia/arthrogryposis multiplex congenital cases.
    Title: Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.
  10. We examined a Chinese strabismus pedigree with the parents unaffected and 2 offspring affected. Whole-exome sequencing and bioinformatics filtering identified 2 variants including Abelson helper integration site 1 (AHI1) gene and nebulin (NEB) gene. c.A914G mutation was found in nebulin (NEB) gene.
    Title: Identification of 2 Potentially Relevant Gene Mutations Involved in Strabismus Using Whole-Exome Sequencing.
Submit: New GeneRIF Correction See all GeneRIFs (40)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Arthrogryposis multiplex congenita 6
MedGen: C5543431 OMIM: 619334 GeneReviews: Not available
Compare labs
Nemaline myopathy 2
MedGen: C1850569 OMIM: 256030 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ11505, FLJ36536, FLJ39568, FLJ39584, DKFZp686C1456

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables structural constituent of muscle TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in cardiac muscle thin filament assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in muscle organ development TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of actin filament length NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in somatic muscle development NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in Z disc IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Z disc IDA
Inferred from Direct Assay
more info
 PubMed 
located_in actin cytoskeleton TAS
Traceable Author Statement
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 

General protein information

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Preferred Names
nebulin
Names
nemaline myopathy type 2

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.

Genomic

  1. NG_009382.2 RefSeqGene

    Range
    5001..254149
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_202

mRNA and Protein(s)

  1. NM_001164507.2 → NP_001157979.2  nebulin isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents a transcript with all known exons of the nebulin gene except for exon 144. The RefSeq Project created this record to better support clinical studies but the combination of exons and splice sites still needs to be experimentally confirmed. The predicted protein (isoform 1) is 8525 aa long.
    Source sequence(s)
    AC009497, AC107052, AC116650
    Consensus CDS
    CCDS54408.1
    Related
    ENSP00000416578.2, ENST00000427231.7
    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:8468 → 8525
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:616 → 643
    Nebulin; Nebulin repeat

  2. NM_001164508.2 → NP_001157980.2  nebulin isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents a transcript with all known exons of the nebulin gene except for exon 143. The RefSeq Project created this record to better support clinical studies but the combination of exons and splice sites still needs to be experimentally confirmed. The predicted protein (isoform 2) is the same length as isoform 1 but has a different sequence due to the exchange of exon 143 for exon 144.
    Source sequence(s)
    AC009497, AC107052, AC116650
    Consensus CDS
    CCDS54407.1
    Related
    ENSP00000380505.3, ENST00000397345.8
    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:8468 → 8525
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:616 → 643
    Nebulin; Nebulin repeat

  3. NM_001271208.2 → NP_001258137.2  nebulin isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents a transcript with all known exons of the nebulin gene. The RefSeq Project created this record to better support clinical studies but the combination of exons and splice sites still needs to be experimentally confirmed. The predicted protein (isoform 4) is longer than isoform 1.
    Source sequence(s)
    AC009497, AC107052, AC116650

  4. NM_004543.5 → NP_004534.3  nebulin isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks many exons and uses different splice sites in its coding region, compared to variant 1. The combination of exons and splice sites has been experimentally confirmed as reported in accession X83957.1. The resulting protein (isoform 3, also known as the short form) is shorter when it is compared to isoform 1.
    Source sequence(s)
    AC009497, AC107052
    Consensus CDS
    CCDS46424.1
    UniProtKB/Swiss-Prot
    F8WCL5, F8WCP0, P20929, Q15346, Q53QQ2, Q53TG8
    Related
    ENSP00000386259.1, ENST00000409198.5
    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:6612 → 6669
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:4407 → 4433
    Nebulin; Nebulin repeat

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    151485339..151734476 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511227.3 → XP_011509529.1  nebulin isoform X43

    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:7010 → 7067
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:617 → 643
    Nebulin; Nebulin repeat

  2. XM_011511226.3 → XP_011509528.1  nebulin isoform X41

    UniProtKB/Swiss-Prot
    F8WCL5, F8WCP0, P20929, Q15346, Q53QQ2, Q53TG8
    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:7739 → 7796
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:617 → 643
    Nebulin; Nebulin repeat

  3. XM_005246613.3 → XP_005246670.1  nebulin isoform X29

    See identical proteins and their annotated locations for XP_005246670.1

    UniProtKB/Swiss-Prot
    F8WCL5, F8WCP0, P20929, Q15346, Q53QQ2, Q53TG8
    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:8225 → 8282
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:617 → 643
    Nebulin; Nebulin repeat

  4. XM_005246612.3 → XP_005246669.1  nebulin isoform X28

    See identical proteins and their annotated locations for XP_005246669.1

    UniProtKB/Swiss-Prot
    F8WCL5, F8WCP0, P20929, Q15346, Q53QQ2, Q53TG8
    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:8225 → 8282
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:617 → 643
    Nebulin; Nebulin repeat

  5. XM_005246617.3 → XP_005246674.1  nebulin isoform X42

    UniProtKB/Swiss-Prot
    F8WCL5, F8WCP0, P20929, Q15346, Q53QQ2, Q53TG8
    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:7496 → 7553
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:617 → 643
    Nebulin; Nebulin repeat

  6. XM_047444485.1 → XP_047300441.1  nebulin isoform X39

  7. XM_047444484.1 → XP_047300440.1  nebulin isoform X37

  8. XM_047444477.1 → XP_047300433.1  nebulin isoform X11

  9. XM_017004177.2 → XP_016859666.1  nebulin isoform X6

  10. XM_017004185.2 → XP_016859674.1  nebulin isoform X38

    Conserved Domains (2) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:8127 → 8184
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin

  11. XM_047444483.1 → XP_047300439.1  nebulin isoform X36

  12. XM_011511225.3 → XP_011509527.1  nebulin isoform X33

    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:8220 → 8277
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:617 → 643
    Nebulin; Nebulin repeat

  13. XM_047444482.1 → XP_047300438.1  nebulin isoform X35

  14. XM_047444479.1 → XP_047300435.1  nebulin isoform X27

  15. XM_017004180.2 → XP_016859669.1  nebulin isoform X21

  16. XM_047444481.1 → XP_047300437.1  nebulin isoform X34

  17. XM_017004183.2 → XP_016859672.1  nebulin isoform X32

  18. XM_005246610.3 → XP_005246667.1  nebulin isoform X25

    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:8251 → 8308
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:617 → 643
    Nebulin; Nebulin repeat

  19. XM_017004182.2 → XP_016859671.1  nebulin isoform X24

  20. XM_017004181.2 → XP_016859670.1  nebulin isoform X22

  21. XM_017004179.2 → XP_016859668.1  nebulin isoform X18

    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:8313 → 8370
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:617 → 643
    Nebulin; Nebulin repeat

  22. XM_005246606.3 → XP_005246663.1  nebulin isoform X19

    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:8313 → 8370
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:617 → 643
    Nebulin; Nebulin repeat

  23. XM_005246602.3 → XP_005246659.1  nebulin isoform X14

    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:8344 → 8401
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:617 → 643
    Nebulin; Nebulin repeat

  24. XM_017004178.2 → XP_016859667.1  nebulin isoform X10

  25. XM_005246594.3 → XP_005246651.1  nebulin isoform X1

    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:8437 → 8494
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:617 → 643
    Nebulin; Nebulin repeat

  26. XM_005246608.3 → XP_005246665.1  nebulin isoform X23

    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:8282 → 8339
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:617 → 643
    Nebulin; Nebulin repeat

  27. XM_005246604.3 → XP_005246661.1  nebulin isoform X20

    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:8313 → 8370
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:617 → 643
    Nebulin; Nebulin repeat

  28. XM_005246601.3 → XP_005246658.1  nebulin isoform X15

    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:8344 → 8401
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:617 → 643
    Nebulin; Nebulin repeat

  29. XM_047444478.1 → XP_047300434.1  nebulin isoform X13

  30. XM_005246599.3 → XP_005246656.1  nebulin isoform X12

    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:8375 → 8432
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:617 → 643
    Nebulin; Nebulin repeat

  31. XM_005246596.3 → XP_005246653.1  nebulin isoform X7

    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:8406 → 8463
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:617 → 643
    Nebulin; Nebulin repeat

  32. XM_005246590.3 → XP_005246647.1  nebulin isoform X4

    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:8437 → 8494
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:617 → 643
    Nebulin; Nebulin repeat

  33. XM_005246611.3 → XP_005246668.1  nebulin isoform X26

    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:8251 → 8308
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:617 → 643
    Nebulin; Nebulin repeat

  34. XM_005246591.3 → XP_005246648.1  nebulin isoform X5

    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:8437 → 8494
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:617 → 643
    Nebulin; Nebulin repeat

  35. XM_005246597.3 → XP_005246654.1  nebulin isoform X8

    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:8406 → 8463
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:617 → 643
    Nebulin; Nebulin repeat

  36. XM_005246592.3 → XP_005246649.1  nebulin isoform X3

    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:8437 → 8494
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:617 → 643
    Nebulin; Nebulin repeat

  37. XM_005246598.3 → XP_005246655.1  nebulin isoform X9

    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:8406 → 8463
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:617 → 643
    Nebulin; Nebulin repeat

  38. XM_005246593.3 → XP_005246650.1  nebulin isoform X2

    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:8437 → 8494
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:617 → 643
    Nebulin; Nebulin repeat

  39. XM_017004184.2 → XP_016859673.1  nebulin isoform X31

  40. XM_005246615.3 → XP_005246672.1  nebulin isoform X30

    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:8220 → 8277
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:617 → 643
    Nebulin; Nebulin repeat

  41. XM_006712541.3 → XP_006712604.1  nebulin isoform X16

    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:8313 → 8370
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:617 → 643
    Nebulin; Nebulin repeat

  42. XM_006712542.3 → XP_006712605.1  nebulin isoform X17

    Conserved Domains (3) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    cd11933
    Location:8313 → 8370
    SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
    pfam00880
    Location:617 → 643
    Nebulin; Nebulin repeat

  43. XM_005246616.2 → XP_005246673.1  nebulin isoform X40

    Conserved Domains (2) summary
    smart00227
    Location:537 → 567
    NEBU; The Nebulin repeat is present also in Las1
    pfam00880
    Location:617 → 643
    Nebulin; Nebulin repeat

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    151937128..152186240 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054342251.1 → XP_054198226.1  nebulin isoform X43

  2. XM_054342250.1 → XP_054198225.1  nebulin isoform X41

  3. XM_054342238.1 → XP_054198213.1  nebulin isoform X29

  4. XM_054342237.1 → XP_054198212.1  nebulin isoform X28

  5. XM_054342248.1 → XP_054198223.1  nebulin isoform X39

  6. XM_054342246.1 → XP_054198221.1  nebulin isoform X37

  7. XM_054342221.1 → XP_054198196.1  nebulin isoform X11

  8. XM_054342216.1 → XP_054198191.1  nebulin isoform X6

  9. XM_054342247.1 → XP_054198222.1  nebulin isoform X38

  10. XM_054342245.1 → XP_054198220.1  nebulin isoform X36

  11. XM_054342242.1 → XP_054198217.1  nebulin isoform X33

  12. XM_054342244.1 → XP_054198219.1  nebulin isoform X35

  13. XM_054342236.1 → XP_054198211.1  nebulin isoform X27

  14. XM_054342243.1 → XP_054198218.1  nebulin isoform X34

  15. XM_054342241.1 → XP_054198216.1  nebulin isoform X32

  16. XM_054342234.1 → XP_054198209.1  nebulin isoform X25

  17. XM_054342240.1 → XP_054198215.1  nebulin isoform X46

  18. XM_054342232.1 → XP_054198207.1  nebulin isoform X24

  19. XM_054342230.1 → XP_054198205.1  nebulin isoform X22

  20. XM_054342227.1 → XP_054198202.1  nebulin isoform X18

  21. XM_054342233.1 → XP_054198208.1  nebulin isoform X45

  22. XM_054342225.1 → XP_054198200.1  nebulin isoform X14

  23. XM_054342219.1 → XP_054198194.1  nebulin isoform X10

  24. XM_054342211.1 → XP_054198186.1  nebulin isoform X1

  25. XM_054342231.1 → XP_054198206.1  nebulin isoform X23

  26. XM_054342228.1 → XP_054198203.1  nebulin isoform X44

  27. XM_054342229.1 → XP_054198204.1  nebulin isoform X20

  28. XM_054342224.1 → XP_054198199.1  nebulin isoform X15

  29. XM_054342223.1 → XP_054198198.1  nebulin isoform X13

  30. XM_054342222.1 → XP_054198197.1  nebulin isoform X12

  31. XM_054342217.1 → XP_054198192.1  nebulin isoform X7

  32. XM_054342214.1 → XP_054198189.1  nebulin isoform X4

  33. XM_054342235.1 → XP_054198210.1  nebulin isoform X26

  34. XM_054342215.1 → XP_054198190.1  nebulin isoform X5

  35. XM_054342220.1 → XP_054198195.1  nebulin isoform X8

  36. XM_054342213.1 → XP_054198188.1  nebulin isoform X3

  37. XM_054342218.1 → XP_054198193.1  nebulin isoform X9

  38. XM_054342212.1 → XP_054198187.1  nebulin isoform X2

  39. XM_054342239.1 → XP_054198214.1  nebulin isoform X30

  40. XM_054342226.1 → XP_054198201.1  nebulin isoform X17

  41. XM_054342249.1 → XP_054198224.1  nebulin isoform X40

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P20929.5 GenPept UniProtKB/Swiss-Prot:P20929

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