UniProt functional annotation for P20929



	UniProt functional annotation for P20929

UniProt code: P20929.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the membrane system associated with the myofibrils. Binds and stabilize F-actin.

Subunit: Monomer and homooligomer (PubMed:23615443). Interacts with TTN/titin (PubMed:12482578). Interacts with SVIL (PubMed:18639526). Interacts (via nebulin repeats 160-164) with DES (PubMed:23615443). {ECO:0000269|PubMed:12482578, ECO:0000269|PubMed:18639526, ECO:0000269|PubMed:23615443}.

Subcellular location: Cytoplasm, myofibril, sarcomere. Cytoplasm, cytoskeleton.

Tissue specificity: Muscle specific. Located in the thin filament of striated muscle.

Disease: Nemaline myopathy 2 (NEM2) [MIM:256030]: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. {ECO:0000269|PubMed:10051637}. Note=The disease is caused by variants affecting the gene represented in this entry.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the membrane system associated with the myofibrils. Binds and stabilize F-actin.


Subunit:		Monomer and homooligomer (PubMed:23615443). Interacts with TTN/titin (PubMed:12482578). Interacts with SVIL (PubMed:18639526). Interacts (via nebulin repeats 160-164) with DES (PubMed:23615443). {ECO:0000269\|PubMed:12482578, ECO:0000269\|PubMed:18639526, ECO:0000269\|PubMed:23615443}.
Subcellular location:		Cytoplasm, myofibril, sarcomere. Cytoplasm, cytoskeleton.
Tissue specificity:		Muscle specific. Located in the thin filament of striated muscle.
Disease:		Nemaline myopathy 2 (NEM2) [MIM:256030]: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. {ECO:0000269\|PubMed:10051637}. Note=The disease is caused by variants affecting the gene represented in this entry.