======= C10orf113 ======= == Gene Information == * **Official Symbol**: NEBL * **Official Name**: nebulette * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=10529|10529]] * **UniProt**: [[https://www.uniprot.org/uniprot/O76041|O76041]] * **Interactions**: [[https://thebiogrid.org/search.php?search=C10orf113&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20C10orf113|Open PubMed]] * **OMIM**: [[https://omim.org/entry/605491|Open OMIM]] == Function Summary == * **Entrez Summary**: This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]. * **UniProt Summary**: Binds to actin and plays an important role in the assembly of the Z-disk. May functionally link sarcomeric actin to the desmin intermediate filaments in the heart muscle sarcomeres (PubMed:27733623). Isoform 2 might play a role in the assembly of focal adhesion (PubMed:15004028). {ECO:0000269|PubMed:15004028, ECO:0000269|PubMed:27733623}. |SH3 2| |Nebulin| |SH3 1| |LIM| |cardiac muscle thin filament assembly| |filamin binding| |tropomyosin binding| |I band| |cardiac myofibril assembly| |structural constituent of muscle| |muscle fiber development| |cardiac muscle cell development| |cardiac cell development| |myofibril assembly| |stress fiber| |cytoskeletal protein binding| |cardiac muscle cell differentiation| |cellular component assembly involved in morphogenesis| |actomyosin structure organization| |cardiocyte differentiation| |Z disc| |striated muscle cell development| |muscle cell development| |cardiac muscle tissue development| |striated muscle cell differentiation| |actin filament binding| |actin filament organization| |muscle cell differentiation| |striated muscle tissue development| |muscle tissue development| |supramolecular fiber organization| |muscle structure development| |actin cytoskeleton organization| |heart development| |actin filament-based process| |organelle assembly| |cellular component morphogenesis| |circulatory system development| |anatomical structure formation involved in morphogenesis| |cytoskeleton organization| |cell development| |tissue development| \\ === CRISPR Data === No hits were found. No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 17189 * **Expression level (log2 read counts)**: -7.68 {{:chemogenomics:nalm6 dist.png?nolink |}}