| Gene Information | |
|---|---|
| Gene Name | NEBL |
| Organism | Homo sapiens (Human) |
| Gene Length | 1014 |
| Protein Names | Nebulette (Actin-binding Z-disk protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 886 ( ENSG00000078114 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | O76041 |
| Gene Card | NEBL |
| Uniprot ID | O76041 |
| Pfam | PF00880; PF14604 |
| In ASD | no |
| Allosteric Prediction | no (-1.088717539) |
| Ortholog in Animals | Alpaca_ NEBL ( ortholog_one2one ) Dog_ NEBL ( ortholog_one2one ) GuineaPig_ NEBL ( ortholog_one2one ) Macaque_ NEBL ( ortholog_one2one ) Mouse_ Nebl ( ortholog_one2one ) Pig_ NEBL ( ortholog_one2one ) Rat_ Nebl ( ortholog_one2one ) Rabbit_ NEBL ( ortholog_one2one ) |
| Ohnologs | NRAP |
| Paralogs | NEB, KY, NRAP, LASP1 |
| Tissue | NA |
| 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. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
|
| PDB | 4F14 (X-ray 1.20A ) |
| DBSNP | rs75301590 rs2296610 rs4025981 rs41277370 rs4748728 rs71535732 |
| Subcellular location [CC] | [Isoform 2]: Cytoplasm {ECO:0000269|PubMed:15004028}. |
| Mouse PG classification | NA |
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