UniProt functional annotation for Q13642



	UniProt functional annotation for Q13642

UniProt code: Q13642.

Organism: Homo sapiens (Human).

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

Function: May have an involvement in muscle development or hypertrophy.

Subcellular location: [Isoform 1]: Cytoplasm.

Subcellular location: [Isoform 3]: Cytoplasm. Nucleus.

Subcellular location: [Isoform 2]: Nucleus. Cytoplasm, cytosol. Note=Predominantly nuclear in myoblasts but is cytosolic in differentiated myotubes.

Tissue specificity: Isoform 1 is highly expressed in skeletal muscle and to a lesser extent in heart, placenta, ovary, prostate, testis, small intestine, colon and spleen. Expression is barely detectable in brain, lung, liver, kidney, pancreas, thymus and peripheral blood leukocytes. Isoform 2 is expressed in brain, skeletal muscle and to a lesser extent in heart, colon, prostate and small intestine. Isoform 3 is expressed in testis, heart and skeletal muscle. {ECO:0000269|PubMed:10352231, ECO:0000269|PubMed:10480922, ECO:0000269|PubMed:10524257, ECO:0000269|PubMed:11400158, ECO:0000269|PubMed:9714789}.

Developmental stage: Elevated levels during postnatal muscle growth. {ECO:0000269|PubMed:7626119}.

Disease: Emery-Dreifuss muscular dystrophy 6, X-linked (EDMD6) [MIM:300696]: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. {ECO:0000269|PubMed:19716112, ECO:0000269|PubMed:20186852}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry.

Disease: Scapuloperoneal myopathy, X-linked dominant (SPM) [MIM:300695]: A disease characterized by progressive muscle weakness and wasting, upper and lower limbs weakness, foot drop, scapular winging, and myopathic changes on muscle biopsy. Most affected individuals become wheelchair-bound. {ECO:0000269|PubMed:18179901, ECO:0000269|PubMed:27234031}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Myopathy, X-linked, with postural muscle atrophy (XMPMA) [MIM:300696]: A progressive muscular dystrophy with onset in adulthood. Affected individuals develop a proximal myopathy characterized by specific atrophy of postural muscles, limited neck flexion, bent spine, contractures of the Achilles tendon, respiratory problems, and cardiomyopathy. Patients may show muscle hypertrophy in the early stages of the disorder. {ECO:0000269|PubMed:18179888, ECO:0000269|PubMed:19687455}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset (RBMX1A) [MIM:300717]: A rare myopathy clinically characterized by rapidly progressive muscular weakness, and pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. Death in childhood is frequent in the severe form of the disease, due to respiratory failure. {ECO:0000269|PubMed:18274675, ECO:0000269|PubMed:19171836, ECO:0000269|PubMed:19181672}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Reducing body myopathy, X-linked 1B, with late childhood or adult onset (RBMX1B) [MIM:300718]: A rare myopathy clinically characterized by rapidly progressive muscular weakness, and pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. {ECO:0000269|PubMed:18274675, ECO:0000269|PubMed:19171836, ECO:0000269|PubMed:19181672, ECO:0000269|PubMed:23169582}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Uruguay faciocardiomusculoskeletal syndrome (FCMSU) [MIM:300280]: An X-linked recessive syndrome characterized by brachyturricephaly, pugilistic coarse facies, a muffled voice, cardiomyopathy, muscular hypertrophy, broad hands, wide feet with progressive pes cavus deformities, dislocation of toes, variable congenital hip dislocation, and scoliosis. {ECO:0000269|PubMed:26933038}. Note=The disease is caused by variants affecting the gene represented in this entry.

Sequence caution: Sequence=AAH88369.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={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:		May have an involvement in muscle development or hypertrophy.


Subcellular location:		[Isoform 1]: Cytoplasm.
Subcellular location:		[Isoform 3]: Cytoplasm. Nucleus.
Subcellular location:		[Isoform 2]: Nucleus. Cytoplasm, cytosol. Note=Predominantly nuclear in myoblasts but is cytosolic in differentiated myotubes.
Tissue specificity:		Isoform 1 is highly expressed in skeletal muscle and to a lesser extent in heart, placenta, ovary, prostate, testis, small intestine, colon and spleen. Expression is barely detectable in brain, lung, liver, kidney, pancreas, thymus and peripheral blood leukocytes. Isoform 2 is expressed in brain, skeletal muscle and to a lesser extent in heart, colon, prostate and small intestine. Isoform 3 is expressed in testis, heart and skeletal muscle. {ECO:0000269\|PubMed:10352231, ECO:0000269\|PubMed:10480922, ECO:0000269\|PubMed:10524257, ECO:0000269\|PubMed:11400158, ECO:0000269\|PubMed:9714789}.
Developmental stage:		Elevated levels during postnatal muscle growth. {ECO:0000269\|PubMed:7626119}.
Disease:		Emery-Dreifuss muscular dystrophy 6, X-linked (EDMD6) [MIM:300696]: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. {ECO:0000269\|PubMed:19716112, ECO:0000269\|PubMed:20186852}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry.
Disease:		Scapuloperoneal myopathy, X-linked dominant (SPM) [MIM:300695]: A disease characterized by progressive muscle weakness and wasting, upper and lower limbs weakness, foot drop, scapular winging, and myopathic changes on muscle biopsy. Most affected individuals become wheelchair-bound. {ECO:0000269\|PubMed:18179901, ECO:0000269\|PubMed:27234031}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Myopathy, X-linked, with postural muscle atrophy (XMPMA) [MIM:300696]: A progressive muscular dystrophy with onset in adulthood. Affected individuals develop a proximal myopathy characterized by specific atrophy of postural muscles, limited neck flexion, bent spine, contractures of the Achilles tendon, respiratory problems, and cardiomyopathy. Patients may show muscle hypertrophy in the early stages of the disorder. {ECO:0000269\|PubMed:18179888, ECO:0000269\|PubMed:19687455}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset (RBMX1A) [MIM:300717]: A rare myopathy clinically characterized by rapidly progressive muscular weakness, and pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. Death in childhood is frequent in the severe form of the disease, due to respiratory failure. {ECO:0000269\|PubMed:18274675, ECO:0000269\|PubMed:19171836, ECO:0000269\|PubMed:19181672}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Reducing body myopathy, X-linked 1B, with late childhood or adult onset (RBMX1B) [MIM:300718]: A rare myopathy clinically characterized by rapidly progressive muscular weakness, and pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. {ECO:0000269\|PubMed:18274675, ECO:0000269\|PubMed:19171836, ECO:0000269\|PubMed:19181672, ECO:0000269\|PubMed:23169582}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Uruguay faciocardiomusculoskeletal syndrome (FCMSU) [MIM:300280]: An X-linked recessive syndrome characterized by brachyturricephaly, pugilistic coarse facies, a muffled voice, cardiomyopathy, muscular hypertrophy, broad hands, wide feet with progressive pes cavus deformities, dislocation of toes, variable congenital hip dislocation, and scoliosis. {ECO:0000269\|PubMed:26933038}. Note=The disease is caused by variants affecting the gene represented in this entry.
Sequence caution:		Sequence=AAH88369.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};