UniProt functional annotation for P62873



	UniProt functional annotation for P62873

UniProt code: P62873.

Organism: Homo sapiens (Human).

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

Function: Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.

Subunit: G proteins are composed of 3 units, alpha, beta and gamma (By similarity). The heterodimer formed by GNB1 and GNG2 interacts with ARHGEF5 (PubMed:19713215). The heterodimer formed by GNB1 and GNG2 interacts with GRK2 (By similarity). Interacts with ARHGEF18 and RASD2 (PubMed:14512443, PubMed:19255495). {ECO:0000250|UniProtKB:P62871, ECO:0000269|PubMed:14512443, ECO:0000269|PubMed:19255495, ECO:0000269|PubMed:19713215}.

Ptm: Phosphorylation at His-266 by NDKB contributes to G protein activation by increasing the high energetic phosphate transfer onto GDP. {ECO:0000250}.

Disease: Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD42 patients manifest global developmental delay commonly accompanied by hypotonia, seizures of various types, ophthalmological manifestations, and poor growth. {ECO:0000269|PubMed:25485910, ECO:0000269|PubMed:27108799, ECO:0000269|PubMed:27668284, ECO:0000269|PubMed:28087732}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the WD repeat G protein beta family. {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:		Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.


Subunit:		G proteins are composed of 3 units, alpha, beta and gamma (By similarity). The heterodimer formed by GNB1 and GNG2 interacts with ARHGEF5 (PubMed:19713215). The heterodimer formed by GNB1 and GNG2 interacts with GRK2 (By similarity). Interacts with ARHGEF18 and RASD2 (PubMed:14512443, PubMed:19255495). {ECO:0000250\|UniProtKB:P62871, ECO:0000269\|PubMed:14512443, ECO:0000269\|PubMed:19255495, ECO:0000269\|PubMed:19713215}.
Ptm:		Phosphorylation at His-266 by NDKB contributes to G protein activation by increasing the high energetic phosphate transfer onto GDP. {ECO:0000250}.
Disease:		Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD42 patients manifest global developmental delay commonly accompanied by hypotonia, seizures of various types, ophthalmological manifestations, and poor growth. {ECO:0000269\|PubMed:25485910, ECO:0000269\|PubMed:27108799, ECO:0000269\|PubMed:27668284, ECO:0000269\|PubMed:28087732}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the WD repeat G protein beta family. {ECO:0000305}.