UniProt functional annotation for Q02108



	UniProt functional annotation for Q02108

UniProt code: Q02108.

Organism: Homo sapiens (Human).

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

Catalytic activity: Reaction=GTP = 3',5'-cyclic GMP + diphosphate; Xref=Rhea:RHEA:13665, ChEBI:CHEBI:33019, ChEBI:CHEBI:37565, ChEBI:CHEBI:57746; EC=4.6.1.2; Evidence={ECO:0000269|PubMed:23505436, ECO:0000269|PubMed:24669844, ECO:0000269|PubMed:9742212};

Cofactor: Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000269|PubMed:23505436, ECO:0000269|PubMed:24669844}; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence={ECO:0000269|PubMed:23505436, ECO:0000269|PubMed:24669844}; Note=Has also activity with Mn(2+) (in vitro). {ECO:0000269|PubMed:23505436, ECO:0000269|PubMed:24669844};

Activity regulation: Activated by nitric oxide in the presence of magnesium or manganese ions. {ECO:0000269|PubMed:9742212}.

Subunit: The active enzyme is formed by a heterodimer of an alpha and a beta subunit. Heterodimer with GUCY1B1 (PubMed:9742212, PubMed:23505436, PubMed:24669844). {ECO:0000269|PubMed:23505436, ECO:0000269|PubMed:24669844, ECO:0000269|PubMed:9742212}.

Subcellular location: Cytoplasm {ECO:0000305}.

Tissue specificity: Detected in brain cortex and lung (at protein level). {ECO:0000269|PubMed:1352257}.

Disease: Moyamoya disease 6 with or without achalasia (MYMY6) [MIM:615750]: A form of Moyamoya disease, a progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. MYMY6 is characterized by severe cerebral angiopathy and onset of severe achalasia in infancy or early childhood. {ECO:0000269|PubMed:24581742}. Note=The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous: There are two types of guanylate cyclases: soluble forms and membrane-associated receptor forms.

Similarity: Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. {ECO:0000255|PROSITE-ProRule:PRU00099}.

Sequence caution: Sequence=CAA47145.1; 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.


Catalytic activity:		Reaction=GTP = 3',5'-cyclic GMP + diphosphate; Xref=Rhea:RHEA:13665, ChEBI:CHEBI:33019, ChEBI:CHEBI:37565, ChEBI:CHEBI:57746; EC=4.6.1.2; Evidence={ECO:0000269\|PubMed:23505436, ECO:0000269\|PubMed:24669844, ECO:0000269\|PubMed:9742212};
Cofactor:		Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000269\|PubMed:23505436, ECO:0000269\|PubMed:24669844}; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence={ECO:0000269\|PubMed:23505436, ECO:0000269\|PubMed:24669844}; Note=Has also activity with Mn(2+) (in vitro). {ECO:0000269\|PubMed:23505436, ECO:0000269\|PubMed:24669844};
Activity regulation:		Activated by nitric oxide in the presence of magnesium or manganese ions. {ECO:0000269\|PubMed:9742212}.
Subunit:		The active enzyme is formed by a heterodimer of an alpha and a beta subunit. Heterodimer with GUCY1B1 (PubMed:9742212, PubMed:23505436, PubMed:24669844). {ECO:0000269\|PubMed:23505436, ECO:0000269\|PubMed:24669844, ECO:0000269\|PubMed:9742212}.
Subcellular location:		Cytoplasm {ECO:0000305}.
Tissue specificity:		Detected in brain cortex and lung (at protein level). {ECO:0000269\|PubMed:1352257}.
Disease:		Moyamoya disease 6 with or without achalasia (MYMY6) [MIM:615750]: A form of Moyamoya disease, a progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. MYMY6 is characterized by severe cerebral angiopathy and onset of severe achalasia in infancy or early childhood. {ECO:0000269\|PubMed:24581742}. Note=The disease is caused by variants affecting the gene represented in this entry.
Miscellaneous:		There are two types of guanylate cyclases: soluble forms and membrane-associated receptor forms.
Similarity:		Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. {ECO:0000255\|PROSITE-ProRule:PRU00099}.
Sequence caution:		Sequence=CAA47145.1; Type=Frameshift; Evidence={ECO:0000305};