UniProt functional annotation for Q9GZN0



	UniProt functional annotation for Q9GZN0

UniProt code: Q9GZN0.

Organism: Homo sapiens (Human).

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

Function: Probable G-protein coupled receptor implicated in a large repertoire of behavioral responses that engage motor activities, spatial learning, and emotional processing. May play a role in the regulation of cognitive and motor function. {ECO:0000250|UniProtKB:Q9EPB7, ECO:0000250|UniProtKB:Q9ESP4}.

Subcellular location: Cell membrane {ECO:0000250|UniProtKB:Q9ESP4}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm {ECO:0000250|UniProtKB:Q9ESP4}. Nucleus {ECO:0000250|UniProtKB:Q9ESP4}. Note=During cortical lamination, subcellular location shifts, on the day of birth, from expression at the plasma membrane and in the cytoplasm to the nuclei of neurons. This intranuclear localization remains throughout adulthood. {ECO:0000250|UniProtKB:Q9ESP4}.

Tissue specificity: Expressed predominantly in the striatum. {ECO:0000269|PubMed:11056049}.

Disease: Chorea, childhood-onset, with psychomotor retardation (COCPMR) [MIM:616939]: An autosomal recessive neurodevelopmental disorder characterized by abnormal involuntary movements, marked speech delay, intellectual disability and learning difficulties. {ECO:0000269|PubMed:27123486}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the G-protein coupled receptor 1 family. {ECO:0000255|PROSITE-ProRule:PRU00521}.

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:		Probable G-protein coupled receptor implicated in a large repertoire of behavioral responses that engage motor activities, spatial learning, and emotional processing. May play a role in the regulation of cognitive and motor function. {ECO:0000250\|UniProtKB:Q9EPB7, ECO:0000250\|UniProtKB:Q9ESP4}.


Subcellular location:		Cell membrane {ECO:0000250\|UniProtKB:Q9ESP4}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm {ECO:0000250\|UniProtKB:Q9ESP4}. Nucleus {ECO:0000250\|UniProtKB:Q9ESP4}. Note=During cortical lamination, subcellular location shifts, on the day of birth, from expression at the plasma membrane and in the cytoplasm to the nuclei of neurons. This intranuclear localization remains throughout adulthood. {ECO:0000250\|UniProtKB:Q9ESP4}.
Tissue specificity:		Expressed predominantly in the striatum. {ECO:0000269\|PubMed:11056049}.
Disease:		Chorea, childhood-onset, with psychomotor retardation (COCPMR) [MIM:616939]: An autosomal recessive neurodevelopmental disorder characterized by abnormal involuntary movements, marked speech delay, intellectual disability and learning difficulties. {ECO:0000269\|PubMed:27123486}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the G-protein coupled receptor 1 family. {ECO:0000255\|PROSITE-ProRule:PRU00521}.