Nebulette

NEBL
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4F14
Identifiers
Aliases	NEBL, nebulette, LASP2, LNEBL
External IDs	OMIM: 605491; MGI: 1921353; HomoloGene: 31379; GeneCards: NEBL; OMA:NEBL - orthologs
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10p12.31 Start 20,779,973 bp[1] End 21,174,187 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 A3 Start 17,343,909 bp[2] End 17,731,464 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right ventricle myocardium myocardium of left ventricle optic nerve cardiac muscle tissue of right atrium apex of heart glomerulus metanephric glomerulus right auricle Brodmann area 23 Top expressed in interventricular septum atrium myocardium of ventricle atrioventricular valve vestibular sensory epithelium ciliary body right lung lobe left lung lobe mammillary body deep cerebellar nuclei More reference expression data BioGPS n/a
Gene ontology Molecular function filamin binding cytoskeletal protein binding actin filament binding actin binding structural constituent of muscle tropomyosin binding protein binding Cellular component cytoplasm Z discdkac extracellular exosome I band stress fiber Biological process cardiac muscle thin filament assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10529 74103 Ensembl ENSG00000078114 ENSMUSG00000053702 UniProt O76041 Q5JUU7 Q9DC07 Q0II04 RefSeq (mRNA) NM_001173484 NM_006393 NM_016365 NM_213569 NM_028757 NM_001362722 RefSeq (protein) NP_001166955 NP_006384 NP_998734 NP_001364251 NP_001364252 NP_001364253 NP_001364254 NP_001364255 NP_001364256 NP_001364257 NP_083033.1 NP_083033 NP_001349651 Location (UCSC) Chr 10: 20.78 – 21.17 Mb Chr 2: 17.34 – 17.73 Mb PubMed search [3] [4]
Wikidata
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Nebulette is a cardiac-specific isoform belonging to the nebulin family of proteins. It is encoded by the NEBL gene. This family is composed of 5 members: nebulette, nebulin, N-RAP, LASP-1 and LASP-2. Nebulette localizes to Z-discs of cardiac muscle and appears to regulate the length of actin thin filaments.