UniProt functional annotation for Q9UBF9



	UniProt functional annotation for Q9UBF9

UniProt code: Q9UBF9.

Organism: Homo sapiens (Human).

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

Function: Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells. {ECO:0000269|PubMed:12499399}.

Subunit: Homodimer. Interacts with ACTA1, ACTN1, FLNA, FLNB, FLNC and MYOZ2. Interacts with the C-terminal region of MYOZ1. {ECO:0000269|PubMed:10369880, ECO:0000269|PubMed:10958653, ECO:0000269|PubMed:11038172, ECO:0000269|PubMed:12499399, ECO:0000269|PubMed:16076904}.

Subcellular location: Cell membrane, sarcolemma {ECO:0000269|PubMed:10369880}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10369880}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:16076904}. Note=Sarcomeric, also localized to the sarcolemma (PubMed:10369880). Colocalizes with MYOZ1 at the Z-lines in skeletal muscle (PubMed:16076904). {ECO:0000269|PubMed:10369880, ECO:0000269|PubMed:16076904}.

Tissue specificity: Expressed in skeletal muscle (at protein level). Expressed in skeletal muscle, heart, bone marrow and thyroid gland. {ECO:0000269|PubMed:10369880, ECO:0000269|PubMed:10486214}.

Disease: Myopathy, myofibrillar, 3 (MFM3) [MIM:609200]: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM3 is characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in some patients. Affected muscle exhibits disorganization and streaming of the Z-line, presence of large hyaline structures, excessive accumulation of myotilin and other ectopically expressed proteins and prominent congophilic deposits. {ECO:0000269|PubMed:10958653, ECO:0000269|PubMed:12428213, ECO:0000269|PubMed:15111675}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Spheroid body myopathy (SBM) [MIM:182920]: Autosomal dominant form of myofibrillar myopathy (MFM), characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. There is no evidence of cardiomyopathy. Muscle biopsy shows spheroid bodies within the type I muscle fibers. {ECO:0000269|PubMed:16380616}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the myotilin/palladin family. {ECO:0000305}.

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:		Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells. {ECO:0000269\|PubMed:12499399}.


Subunit:		Homodimer. Interacts with ACTA1, ACTN1, FLNA, FLNB, FLNC and MYOZ2. Interacts with the C-terminal region of MYOZ1. {ECO:0000269\|PubMed:10369880, ECO:0000269\|PubMed:10958653, ECO:0000269\|PubMed:11038172, ECO:0000269\|PubMed:12499399, ECO:0000269\|PubMed:16076904}.
Subcellular location:		Cell membrane, sarcolemma {ECO:0000269\|PubMed:10369880}. Cytoplasm, cytoskeleton {ECO:0000269\|PubMed:10369880}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269\|PubMed:16076904}. Note=Sarcomeric, also localized to the sarcolemma (PubMed:10369880). Colocalizes with MYOZ1 at the Z-lines in skeletal muscle (PubMed:16076904). {ECO:0000269\|PubMed:10369880, ECO:0000269\|PubMed:16076904}.
Tissue specificity:		Expressed in skeletal muscle (at protein level). Expressed in skeletal muscle, heart, bone marrow and thyroid gland. {ECO:0000269\|PubMed:10369880, ECO:0000269\|PubMed:10486214}.
Disease:		Myopathy, myofibrillar, 3 (MFM3) [MIM:609200]: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM3 is characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in some patients. Affected muscle exhibits disorganization and streaming of the Z-line, presence of large hyaline structures, excessive accumulation of myotilin and other ectopically expressed proteins and prominent congophilic deposits. {ECO:0000269\|PubMed:10958653, ECO:0000269\|PubMed:12428213, ECO:0000269\|PubMed:15111675}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Spheroid body myopathy (SBM) [MIM:182920]: Autosomal dominant form of myofibrillar myopathy (MFM), characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. There is no evidence of cardiomyopathy. Muscle biopsy shows spheroid bodies within the type I muscle fibers. {ECO:0000269\|PubMed:16380616}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the myotilin/palladin family. {ECO:0000305}.