UniProt functional annotation for Q15772



	UniProt functional annotation for Q15772

UniProt code: Q15772.

Organism: Homo sapiens (Human).

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

Function: Isoform 3 may have a role in regulating the growth and differentiation of arterial smooth muscle cells.

Catalytic activity: Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1;

Catalytic activity: Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1;

Subunit: Interacts with MTM1. Isoform 3 is found as a monomer or homodimer. {ECO:0000269|PubMed:16354304, ECO:0000269|PubMed:25087613}.

Subcellular location: [Isoform 3]: Nucleus.

Tissue specificity: Isoform 1 is preferentially expressed in striated muscle. Non-kinase form such as isoform 3 is predominantly expressed in the aorta. Isoform 3 appears to be expressed only in highly differentiated ASMC in normal vessel walls and down-regulated in dedifferentiated ASMC in vivo. In response to vascular injuries ASMC dedifferentiate and change from a quiescent and contractile phenotype to a proliferative and synthetic phenotype. This proliferation of vascular smooth muscle cells is one of the most prominent features of atherosclerosis. {ECO:0000269|PubMed:15185077, ECO:0000269|PubMed:8663449}.

Induction: Isoform 3 is quickly down-regulated in response to vascular injury, when ASMC cells change from a quiescent to a proliferative phenotype. {ECO:0000269|PubMed:8663449}.

Ptm: May be autophosphorylated.

Disease: Myopathy, centronuclear, 5 (CNM5) [MIM:615959]: A form of centronuclear myopathy, a congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. CNM5 features include severe neonatal hypotonia with respiratory insufficiency, difficulty feeding, and delayed motor development. Some patients die in infancy, and some develop dilated cardiomyopathy. {ECO:0000269|PubMed:25087613}. Note=The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous: Expression is under the tight control of the locus control region (LCRs).

Miscellaneous: [Isoform 3]: Produced by alternative promoter usage. {ECO:0000305}.

Miscellaneous: [Isoform 1]: Produced by alternative splicing. {ECO:0000305}.

Similarity: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. {ECO:0000305}.

Sequence caution: Sequence=AAY15052.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=ABD61734.1; Type=Frameshift; 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:		Isoform 3 may have a role in regulating the growth and differentiation of arterial smooth muscle cells.


Catalytic activity:		Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1;
Catalytic activity:		Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1;
Subunit:		Interacts with MTM1. Isoform 3 is found as a monomer or homodimer. {ECO:0000269\|PubMed:16354304, ECO:0000269\|PubMed:25087613}.
Subcellular location:		[Isoform 3]: Nucleus.
Tissue specificity:		Isoform 1 is preferentially expressed in striated muscle. Non-kinase form such as isoform 3 is predominantly expressed in the aorta. Isoform 3 appears to be expressed only in highly differentiated ASMC in normal vessel walls and down-regulated in dedifferentiated ASMC in vivo. In response to vascular injuries ASMC dedifferentiate and change from a quiescent and contractile phenotype to a proliferative and synthetic phenotype. This proliferation of vascular smooth muscle cells is one of the most prominent features of atherosclerosis. {ECO:0000269\|PubMed:15185077, ECO:0000269\|PubMed:8663449}.
Induction:		Isoform 3 is quickly down-regulated in response to vascular injury, when ASMC cells change from a quiescent to a proliferative phenotype. {ECO:0000269\|PubMed:8663449}.
Ptm:		May be autophosphorylated.
Disease:		Myopathy, centronuclear, 5 (CNM5) [MIM:615959]: A form of centronuclear myopathy, a congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. CNM5 features include severe neonatal hypotonia with respiratory insufficiency, difficulty feeding, and delayed motor development. Some patients die in infancy, and some develop dilated cardiomyopathy. {ECO:0000269\|PubMed:25087613}. Note=The disease is caused by variants affecting the gene represented in this entry.
Miscellaneous:		Expression is under the tight control of the locus control region (LCRs).
Miscellaneous:		[Isoform 3]: Produced by alternative promoter usage. {ECO:0000305}.
Miscellaneous:		[Isoform 1]: Produced by alternative splicing. {ECO:0000305}.
Similarity:		Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. {ECO:0000305}.
Sequence caution:		Sequence=AAY15052.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=ABD61734.1; Type=Frameshift; Evidence={ECO:0000305};