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NEB nebulin [ Homo sapiens (human) ]

Gene ID: 4703, updated on 12-Aug-2018

Summary

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

Genomic context

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

Genomic regions, transcripts, and products

Expression

  • 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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 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 

General protein information

Preferred Names
nebulin
Names
nemaline myopathy type 2

NCBI Reference Sequences (RefSeq)

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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