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    NEB nebulin [ Homo sapiens (human) ]

    Gene ID: 4703, updated on 23-May-2018
    Official Symbol
    NEBprovided by HGNC
    Official Full Name
    nebulinprovided by HGNC
    Primary source
    HGNC:HGNC:7720
    See related
    Ensembl:ENSG00000183091 MIM:161650; Vega:OTTHUMG00000153784
    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
    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
    See NEB in Genome Data Viewer
    Location:
    2q23.3
    Exon count:
    183
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (151485334..151734487, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (152341853..152591001, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929319 Neighboring gene microRNA 4773-1 Neighboring gene microRNA 4773-2 Neighboring gene TNF alpha induced protein 6 Neighboring gene RNA, 7SL, cytoplasmic 124, pseudogene Neighboring gene replication timing regulatory factor 1 Neighboring gene NEB-ARL5A intergenic CAGE-defined B cell enhancer Neighboring gene uncharacterized LOC101929356

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Factors and pathways affecting insulin-like growth factor (IGF1)-Akt signaling, organism-specific biosystem (from WikiPathways)
      Factors and pathways affecting insulin-like growth factor (IGF1)-Akt signaling, organism-specific biosystemThe signaling pathway that involves insulin-like growth factor 1 (IGF1), and a variety of other components that affect the pathway, plays an important role in the regulation of skeletal muscle growth...
    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
    • Striated Muscle Contraction, organism-specific biosystem (from REACTOME)
      Striated Muscle Contraction, organism-specific biosystemStriated muscle contraction is a process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry, or in short, increased force being exerted on the tendons....
    • Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
      Striated Muscle Contraction, organism-specific biosystemMuscle contraction is the process where muscle tissue is activated by a signal from the nervous system. In case of voluntary action the nervous signals are initiated from the brain by so called actio...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ11505, FLJ36536, FLJ39568, FLJ39584, DKFZp686C1456

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural constituent of muscle TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    cardiac muscle thin filament assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    muscle fiber development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    muscle filament sliding TAS
    Traceable Author Statement
    more info
     
    muscle organ development TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of actin filament length NAS
    Non-traceable Author Statement
    more info
    PubMed 
    somatic muscle development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actin cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 
    Preferred Names
    nebulin
    Names
    nemaline myopathy type 2

    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_001164507.1NP_001157979.1  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, AH003593
      Consensus CDS
      CCDS54408.1
      Related
      ENSP00000416578.2, ENST00000427231.6
      Conserved Domains (3) summary
      smart00227
      Location:12721302
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:84688525
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    2. NM_001164508.1NP_001157980.1  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, AH003593
      Consensus CDS
      CCDS54407.1
      Related
      ENSP00000380505.3, ENST00000397345.7
      Conserved Domains (3) summary
      smart00227
      Location:12721302
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:84688525
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    3. NM_001271208.1NP_001258137.1  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, AH003593
      Consensus CDS
      CCDS74588.1
      Related
      ENSP00000484342.1, ENST00000618972.4
      Conserved Domains (3) summary
      smart00227
      Location:12721302
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:85038560
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    4. NM_004543.4NP_004534.2  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)
      AC107052, AH003593, AK056994, BC029384, BP232190, BP233123, BX283647, X83957
      Consensus CDS
      CCDS46424.1
      UniProtKB/Swiss-Prot
      P20929
      UniProtKB/TrEMBL
      Q05C45, Q96MF8
      Related
      ENSP00000386259.1, OTTHUMP00000204401, ENST00000409198.5, OTTHUMT00000332406
      Conserved Domains (3) summary
      smart00227
      Location:12721302
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:66126669
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      151485334..151734487 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511227.2XP_011509529.1  nebulin isoform X36

      Conserved Domains (3) summary
      smart00227
      Location:537567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:70107067
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    2. XM_011511226.2XP_011509528.1  nebulin isoform X34

      Conserved Domains (3) summary
      smart00227
      Location:537567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:77397796
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    3. XM_005246613.2XP_005246670.1  nebulin isoform X27

      See identical proteins and their annotated locations for XP_005246670.1

      Conserved Domains (3) summary
      smart00227
      Location:537567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:82258282
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    4. XM_005246612.2XP_005246669.1  nebulin isoform X26

      See identical proteins and their annotated locations for XP_005246669.1

      Conserved Domains (3) summary
      smart00227
      Location:537567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:82258282
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    5. XM_005246617.2XP_005246674.1  nebulin isoform X35

      Conserved Domains (3) summary
      smart00227
      Location:537567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:74967553
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    6. XM_017004177.1XP_016859666.1  nebulin isoform X6

    7. XM_017004185.1XP_016859674.1  nebulin isoform X32

    8. XM_011511225.2XP_011509527.1  nebulin isoform X29

      Conserved Domains (3) summary
      smart00227
      Location:537567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:82208277
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    9. XM_017004180.1XP_016859669.1  nebulin isoform X19

    10. XM_017004183.1XP_016859672.1  nebulin isoform X28

    11. XM_005246610.2XP_005246667.1  nebulin isoform X24

      Conserved Domains (3) summary
      smart00227
      Location:537567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:82518308
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    12. XM_017004182.1XP_016859671.1  nebulin isoform X23

    13. XM_017004181.1XP_016859670.1  nebulin isoform X21

    14. XM_017004179.1XP_016859668.1  nebulin isoform X16

      Conserved Domains (3) summary
      smart00227
      Location:537567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:83138370
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    15. XM_005246606.2XP_005246663.1  nebulin isoform X18

      Conserved Domains (3) summary
      smart00227
      Location:537567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:83138370
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    16. XM_005246602.2XP_005246659.1  nebulin isoform X13

      Conserved Domains (3) summary
      smart00227
      Location:537567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:83448401
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    17. XM_017004178.1XP_016859667.1  nebulin isoform X8

    18. XM_005246594.2XP_005246651.1  nebulin isoform X4

      Conserved Domains (3) summary
      smart00227
      Location:537567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:84378494
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    19. XM_005246608.2XP_005246665.1  nebulin isoform X22

      Conserved Domains (3) summary
      smart00227
      Location:537567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:82828339
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    20. XM_005246603.2XP_005246660.1  nebulin isoform X14

      Conserved Domains (3) summary
      smart00227
      Location:537567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:83138370
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    21. XM_005246604.2XP_005246661.1  nebulin isoform X15

      Conserved Domains (3) summary
      smart00227
      Location:537567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:83138370
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    22. XM_005246601.2XP_005246658.1  nebulin isoform X12

      Conserved Domains (3) summary
      smart00227
      Location:537567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:83448401
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    23. XM_005246599.2XP_005246656.1  nebulin isoform X11

      Conserved Domains (3) summary
      smart00227
      Location:537567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:83758432
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    24. XM_005246596.2XP_005246653.1  nebulin isoform X7

      Conserved Domains (3) summary
      smart00227
      Location:537567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:84068463
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    25. XM_005246590.2XP_005246647.1  nebulin isoform X1

      Conserved Domains (3) summary
      smart00227
      Location:537567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:84378494
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    26. XM_005246611.2XP_005246668.1  nebulin isoform X25

      Conserved Domains (3) summary
      smart00227
      Location:537567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:82518308
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    27. XM_005246591.2XP_005246648.1  nebulin isoform X2

      Conserved Domains (3) summary
      smart00227
      Location:537567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:84378494
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    28. XM_005246597.2XP_005246654.1  nebulin isoform X9

      Conserved Domains (3) summary
      smart00227
      Location:537567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:84068463
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    29. XM_005246592.2XP_005246649.1  nebulin isoform X5

      Conserved Domains (3) summary
      smart00227
      Location:537567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:84378494
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    30. XM_005246598.2XP_005246655.1  nebulin isoform X10

      Conserved Domains (3) summary
      smart00227
      Location:537567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:84068463
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    31. XM_005246593.2XP_005246650.1  nebulin isoform X3

      Conserved Domains (3) summary
      smart00227
      Location:537567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:84378494
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    32. XM_017004184.1XP_016859673.1  nebulin isoform X30

    33. XM_005246615.2XP_005246672.1  nebulin isoform X31

      Conserved Domains (3) summary
      smart00227
      Location:537567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:82208277
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    34. XM_006712541.2XP_006712604.1  nebulin isoform X17

      Conserved Domains (3) summary
      smart00227
      Location:537567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:83138370
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    35. XM_006712542.2XP_006712605.1  nebulin isoform X20

      Conserved Domains (3) summary
      smart00227
      Location:537567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:83138370
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
    36. XM_005246616.1XP_005246673.1  nebulin isoform X33

      Conserved Domains (2) summary
      smart00227
      Location:537567
      NEBU; The Nebulin repeat is present also in Las1
      pfam00880
      Location:617643
      Nebulin; Nebulin repeat
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