UniProt functional annotation for O15247



	UniProt functional annotation for O15247

UniProt code: O15247.

Organism: Homo sapiens (Human).

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

Function: Can insert into membranes and form chloride ion channels. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Modulates the activity of RYR2 and inhibits calcium influx. {ECO:0000269|PubMed:15147738, ECO:0000269|PubMed:15916532, ECO:0000269|PubMed:17945253}.

Subunit: Monomer. Interacts with TRAPPC2 and RYR2. {ECO:0000269|PubMed:12681486, ECO:0000269|PubMed:15147738, ECO:0000269|PubMed:15916532, ECO:0000269|PubMed:17945253}.

Subcellular location: Cytoplasm {ECO:0000269|PubMed:15916532}. Membrane {ECO:0000305|PubMed:15916532}; Single-pass membrane protein {ECO:0000305|PubMed:15916532}. Note=Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain.

Tissue specificity: Expressed in adult and fetal brain, heart, skeletal muscle, liver, lung, and spleen. Detected in adult stomach and testis. Expressed in fetal thymus and kidney. {ECO:0000269|PubMed:15147738, ECO:0000269|PubMed:22814392}.

Domain: Members of this family may change from a globular, soluble state to a state where the N-terminal domain is inserted into the membrane and functions as chloride channel. A conformation change of the N-terminal domain is thought to expose hydrophobic surfaces that trigger membrane insertion.

Disease: Mental retardation, X-linked, syndromic, 32 (MRXS32) [MIM:300886]: A mental retardation syndrome characterized by profound intellectual deficit, delayed psychomotor development beginning in infancy and little or no speech development. Additional features include seizures, large joint contractures, and abnormal positioning of the thumbs. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:22814392}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the chloride channel CLIC family. {ECO:0000305}.

Sequence caution: Sequence=CAA73228.1; 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:		Can insert into membranes and form chloride ion channels. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Modulates the activity of RYR2 and inhibits calcium influx. {ECO:0000269\|PubMed:15147738, ECO:0000269\|PubMed:15916532, ECO:0000269\|PubMed:17945253}.


Subunit:		Monomer. Interacts with TRAPPC2 and RYR2. {ECO:0000269\|PubMed:12681486, ECO:0000269\|PubMed:15147738, ECO:0000269\|PubMed:15916532, ECO:0000269\|PubMed:17945253}.
Subcellular location:		Cytoplasm {ECO:0000269\|PubMed:15916532}. Membrane {ECO:0000305\|PubMed:15916532}; Single-pass membrane protein {ECO:0000305\|PubMed:15916532}. Note=Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain.
Tissue specificity:		Expressed in adult and fetal brain, heart, skeletal muscle, liver, lung, and spleen. Detected in adult stomach and testis. Expressed in fetal thymus and kidney. {ECO:0000269\|PubMed:15147738, ECO:0000269\|PubMed:22814392}.
Domain:		Members of this family may change from a globular, soluble state to a state where the N-terminal domain is inserted into the membrane and functions as chloride channel. A conformation change of the N-terminal domain is thought to expose hydrophobic surfaces that trigger membrane insertion.
Disease:		Mental retardation, X-linked, syndromic, 32 (MRXS32) [MIM:300886]: A mental retardation syndrome characterized by profound intellectual deficit, delayed psychomotor development beginning in infancy and little or no speech development. Additional features include seizures, large joint contractures, and abnormal positioning of the thumbs. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269\|PubMed:22814392}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the chloride channel CLIC family. {ECO:0000305}.
Sequence caution:		Sequence=CAA73228.1; Type=Frameshift; Evidence={ECO:0000305};