Human Gene NEBL (ENST00000377122.9_6) from GENCODE V47lift37
  Description: nebulette, transcript variant 1 (from RefSeq NM_006393.3)
Gencode Transcript: ENST00000377122.9_6
Gencode Gene: ENSG00000078114.19_15
Transcript (Including UTRs)
   Position: hg19 chr10:21,068,902-21,186,240 Size: 117,339 Total Exon Count: 28 Strand: -
Coding Region
   Position: hg19 chr10:21,074,676-21,186,134 Size: 111,459 Coding Exon Count: 28 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:21,068,902-21,186,240)mRNA (may differ from genome)Protein (1014 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NEBL_HUMAN
DESCRIPTION: RecName: Full=Nebulette; AltName: Full=Actin-binding Z-disk protein;
FUNCTION: Binds to actin and plays an important role in the assembly of the Z-disk. Isoform 2 might play a role in the assembly of focal adhesion.
SUBUNIT: Isoform 2 interacts with ZYX (Zyxin).
SUBCELLULAR LOCATION: Isoform 2: Cytoplasm.
TISSUE SPECIFICITY: Abundantly expressed in cardiac muscle, but not in skeletal or smooth muscle. Localized to Z-lines in cardiac cells and to dense bodies in nonmuscle cells. Isoform 2 is expressed in non-muscle cells such as in fibroblasts.
SIMILARITY: Contains 23 nebulin repeats.
SIMILARITY: Contains 1 SH3 domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NEBL
Diseases sorted by gene-association score: endocardial fibroelastosis (17), familial isolated dilated cardiomyopathy* (4), dilated cardiomyopathy (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 98.62 RPKM in Heart - Left Ventricle
Total median expression: 472.86 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -17.70106-0.167 Picture PostScript Text
3' UTR -1402.105774-0.243 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000900 - Nebulin_35r-motif
IPR001452 - SH3_domain

Pfam Domains:
PF00018 - SH3 domain
PF00880 - Nebulin repeat
PF07653 - Variant SH3 domain
PF14604 - Variant SH3 domain

SCOP Domains:
50044 - SH3-domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
4F14 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O76041
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005515 protein binding
GO:0005523 tropomyosin binding
GO:0008092 cytoskeletal protein binding
GO:0008307 structural constituent of muscle
GO:0031005 filamin binding
GO:0051015 actin filament binding

Biological Process:
GO:0071691 cardiac muscle thin filament assembly

Cellular Component:
GO:0001725 stress fiber
GO:0005737 cytoplasm
GO:0030018 Z disc
GO:0031674 I band
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  KJ898234 - Synthetic construct Homo sapiens clone ccsbBroadEn_07628 NEBL gene, encodes complete protein.
Y16241 - Homo sapiens mRNA for nebulette.
AB209311 - Homo sapiens mRNA for nebulette non-muscle isoform variant protein.
AK096540 - Homo sapiens cDNA FLJ39221 fis, clone OCBBF2006972, moderately similar to LIM AND SH3 DOMAIN PROTEIN 1.
BC110452 - Homo sapiens nebulette, mRNA (cDNA clone MGC:119746 IMAGE:40027448), complete cds.
BC110453 - Homo sapiens nebulette, mRNA (cDNA clone MGC:119747 IMAGE:40027449), complete cds.
AK316521 - Homo sapiens cDNA, FLJ79420 complete cds, highly similar to Homo sapiens nebulette (NEBL), transcript variant 2, mRNA.
AF047368 - Homo sapiens nebulette mRNA, complete cds.
AK294926 - Homo sapiens cDNA FLJ53769 complete cds, highly similar to Homo sapiens nebulette (NEBL), transcript variant 2, mRNA.
AK295186 - Homo sapiens cDNA FLJ50100 complete cds, highly similar to Homo sapiens nebulette (NEBL), transcript variant 2, mRNA.
AJ580772 - Homo sapiens mRNA for LIM-nebulette (LNEBL gene).
BC126132 - Homo sapiens nebulette, mRNA (cDNA clone IMAGE:8991848), complete cds.
BC126134 - Homo sapiens nebulette, mRNA (cDNA clone IMAGE:8991850), complete cds.
BC144201 - Homo sapiens cDNA clone IMAGE:9052721, containing frame-shift errors.
AB528969 - Synthetic construct DNA, clone: pF1KE0681, Homo sapiens NEBL gene for nebulette, without stop codon, in Flexi system.
Y17673 - Homo sapiens mRNA for nebulette, incomplete splice variant, partial.
JD236035 - Sequence 217059 from Patent EP1572962.
JD202576 - Sequence 183600 from Patent EP1572962.
JD326799 - Sequence 307823 from Patent EP1572962.
JD431311 - Sequence 412335 from Patent EP1572962.
JD507213 - Sequence 488237 from Patent EP1572962.
JD502137 - Sequence 483161 from Patent EP1572962.
JD538525 - Sequence 519549 from Patent EP1572962.
JD048043 - Sequence 29067 from Patent EP1572962.
JD162839 - Sequence 143863 from Patent EP1572962.
JD445220 - Sequence 426244 from Patent EP1572962.
JD545546 - Sequence 526570 from Patent EP1572962.
JD245548 - Sequence 226572 from Patent EP1572962.
JD067256 - Sequence 48280 from Patent EP1572962.
JD088275 - Sequence 69299 from Patent EP1572962.
JD316185 - Sequence 297209 from Patent EP1572962.
JD494682 - Sequence 475706 from Patent EP1572962.
JD469437 - Sequence 450461 from Patent EP1572962.
JD166131 - Sequence 147155 from Patent EP1572962.
JD086469 - Sequence 67493 from Patent EP1572962.
JD206894 - Sequence 187918 from Patent EP1572962.
JD301548 - Sequence 282572 from Patent EP1572962.
JD450705 - Sequence 431729 from Patent EP1572962.
JD133812 - Sequence 114836 from Patent EP1572962.
JD208261 - Sequence 189285 from Patent EP1572962.
JD080056 - Sequence 61080 from Patent EP1572962.
JD285321 - Sequence 266345 from Patent EP1572962.
JD548926 - Sequence 529950 from Patent EP1572962.
JD107091 - Sequence 88115 from Patent EP1572962.
JD539363 - Sequence 520387 from Patent EP1572962.
JD184287 - Sequence 165311 from Patent EP1572962.
JD261333 - Sequence 242357 from Patent EP1572962.
JD311047 - Sequence 292071 from Patent EP1572962.
JD475633 - Sequence 456657 from Patent EP1572962.
JD295331 - Sequence 276355 from Patent EP1572962.
JD245143 - Sequence 226167 from Patent EP1572962.
JD103571 - Sequence 84595 from Patent EP1572962.
JD281230 - Sequence 262254 from Patent EP1572962.
JD264758 - Sequence 245782 from Patent EP1572962.
JD044183 - Sequence 25207 from Patent EP1572962.
KJ902122 - Synthetic construct Homo sapiens clone ccsbBroadEn_11516 NEBL gene, encodes complete protein.
JD492508 - Sequence 473532 from Patent EP1572962.
JD103845 - Sequence 84869 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B0YJ45, B9EIM9, C10orf113 , E9PRX7, ENST00000377122.1, ENST00000377122.2, ENST00000377122.3, ENST00000377122.4, ENST00000377122.5, ENST00000377122.6, ENST00000377122.7, ENST00000377122.8, LNEBL, NEBL , NEBL_HUMAN, NM_006393, O76041, Q2TBD0, Q5VZT2, Q70I54, Q9UIC4, uc318nkm.1, uc318nkm.2
UCSC ID: ENST00000377122.9_6
RefSeq Accession: NM_006393.3
Protein: O76041 (aka NEBL_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.