InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GNB4

Summary

InnateDB Protein

IDBP-66269.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GNB4

Protein Name

guanine nucleotide binding protein (G protein), beta polypeptide 4

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000232564

InnateDB Gene

IDBG-66267 (GNB4)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Disease Associations

Charcot-Marie-Tooth disease, dominant, intermediate type, F (CMTDIF) [MIM:615185]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. CMTDIF is characterized by onset around adolescence of slowly progressive distal muscle atrophy and weakness affecting the upper and lower limbs and resulting in steppage gait. There is distal sensory impairment with decreased reflexes. Nerve conduction velocities are variable, ranging from the demyelinating to the axonal range. {ECO:0000269PubMed:23434117}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Strongly expressed in lung and placenta, whereas it is weakly expressed in brain and heart. Abundantly expressed in the axons and Schwann cells of peripheral nerves. {ECO:0000269PubMed:11842130, ECO:0000269PubMed:23434117}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 39 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	39 [view]
Protein-Protein	39 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004871	signal transducer activity
GO:0005515	protein binding
GO:0032403	protein complex binding

Biological Process

GO:0006112	energy reserve metabolic process
GO:0007165	signal transduction
GO:0008219	cell death
GO:0021762	substantia nigra development
GO:0044281	small molecule metabolic process
GO:0071377	cellular response to glucagon stimulus

Cellular Component

GO:0005765	lysosomal membrane
GO:0005886	plasma membrane

Protein Structure and Domains

PDB ID

InterPro

IPR001632 G-protein, beta subunit
IPR001680 WD40 repeat
IPR016346 Guanine nucleotide-binding protein, beta subunit
IPR017986 WD40-repeat-containing domain
IPR020472 G-protein beta WD-40 repeat

PFAM

PF00400

PRINTS

PR00319
PR00320

PIRSF

PIRSF002394

SMART

SM00320

TIGRFAMs

Post-translational Modifications

Modification

Cross-References