UniProt functional annotation for Q00872



	UniProt functional annotation for Q00872

UniProt code: Q00872.

Organism: Homo sapiens (Human).

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

Function: Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. Slow skeletal protein that binds to both myosin and actin (PubMed:31264822, PubMed:31025394). In vitro, binds to native thin filaments and modifies the activity of actin-activated myosin ATPase. May modulate muscle contraction or may play a more structural role. {ECO:0000269|PubMed:31025394, ECO:0000269|PubMed:31264822}.

Subunit: Interacts with USP25 (isoform USP25m only); the interaction prevents proteasomal degradation of MYBPC1. {ECO:0000269|PubMed:16501887}.

Disease: Arthrogryposis, distal, 1B (DA1B) [MIM:614335]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected. {ECO:0000269|PubMed:20045868, ECO:0000269|PubMed:26661508}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Lethal congenital contracture syndrome 4 (LCCS4) [MIM:614915]: A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. {ECO:0000269|PubMed:22610851}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Myopathy, congenital, with tremor (MYOTREM) [MIM:618524]: An autosomal dominant muscular disorder characterized by muscle weakness, hypotonia associated with high-frequency postural tremor of the limbs, mildly delayed walking, and steppage gait. Additional features include skeletal deformities such as scoliosis, thoracic asymmetry and spinal rigidity. Some patients show mild facial dysmorphic features. Cognitive functions are normal. {ECO:0000269|PubMed:31025394, ECO:0000269|PubMed:31264822}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the immunoglobulin superfamily. MyBP 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:		Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. Slow skeletal protein that binds to both myosin and actin (PubMed:31264822, PubMed:31025394). In vitro, binds to native thin filaments and modifies the activity of actin-activated myosin ATPase. May modulate muscle contraction or may play a more structural role. {ECO:0000269\|PubMed:31025394, ECO:0000269\|PubMed:31264822}.


Subunit:		Interacts with USP25 (isoform USP25m only); the interaction prevents proteasomal degradation of MYBPC1. {ECO:0000269\|PubMed:16501887}.
Disease:		Arthrogryposis, distal, 1B (DA1B) [MIM:614335]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected. {ECO:0000269\|PubMed:20045868, ECO:0000269\|PubMed:26661508}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Lethal congenital contracture syndrome 4 (LCCS4) [MIM:614915]: A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. {ECO:0000269\|PubMed:22610851}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Myopathy, congenital, with tremor (MYOTREM) [MIM:618524]: An autosomal dominant muscular disorder characterized by muscle weakness, hypotonia associated with high-frequency postural tremor of the limbs, mildly delayed walking, and steppage gait. Additional features include skeletal deformities such as scoliosis, thoracic asymmetry and spinal rigidity. Some patients show mild facial dysmorphic features. Cognitive functions are normal. {ECO:0000269\|PubMed:31025394, ECO:0000269\|PubMed:31264822}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the immunoglobulin superfamily. MyBP family. {ECO:0000305}.