GNB1 gene

G protein subunit beta 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

From UniProt:

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.

From NCBI Gene:

  • Acute lymphoid leukemia
  • Mental retardation, autosomal dominant 42

From UniProt:

Mental retardation, autosomal dominant 42 (MRD42): 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. [MIM:616973]

Cytogenetic Location: 1p36.33, which is the short (p) arm of chromosome 1 at position 36.33

Molecular Location: base pairs 1,785,285 to 1,891,117 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p36.33, which is the short (p) arm of chromosome 1 at position 36.33