InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GNAL

Summary

InnateDB Protein

IDBP-999.6

Last Modified

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

Gene Symbol

GNAL

Protein Name

guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type

Synonyms

DYT25;

Species

Homo sapiens

Ensembl Protein

ENSP00000269162

InnateDB Gene

IDBG-995 (GNAL)

Protein Structure

UniProt Annotation

Function

Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. G(olf) alpha mediates signal transduction within the olfactory neuroepithelium and the basal ganglia. May be involved in some aspect of visual transduction, and in mediating the effect of one or more hormones/neurotransmitters.

Subcellular Localization

Disease Associations

Dystonia 25 (DYT25) [MIM:615073]: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT25 is an autosomal dominant neurologic disorder characterized by adult onset of focal dystonia, usually involving the neck. The dystonia most often progresses to involve other regions, particularly the face and laryngeal muscles, and less commonly the trunk and limbs. {ECO:0000269PubMed:23222958}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Detected in olfactory neuroepithelium, brain, testis, and to a lower extent in retina, lung alveoli, spleen. Trace amounts where seen in kidney, adrenal gland and liver. Found to be expressed in all the insulinomas examined.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001664	G-protein coupled receptor binding
GO:0003924	GTPase activity
GO:0004871	signal transducer activity
GO:0005525	GTP binding
GO:0019001	guanyl nucleotide binding
GO:0031683	G-protein beta/gamma-subunit complex binding
GO:0046872	metal ion binding

Biological Process

GO:0006184	GTP catabolic process
GO:0007165	signal transduction
GO:0007186	G-protein coupled receptor signaling pathway
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway
GO:0007191	adenylate cyclase-activating dopamine receptor signaling pathway
GO:0007193	adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway
GO:0007268	synaptic transmission
GO:0007608	sensory perception of smell

Cellular Component

GO:0005834	heterotrimeric G-protein complex
GO:0005886	plasma membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000367 G-protein alpha subunit, group S
IPR001019 Guanine nucleotide binding protein (G-protein), alpha subunit
IPR006689 Small GTPase superfamily, ARF/SAR type
IPR011025 G protein alpha subunit, helical insertion
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00503
PF00025

PRINTS

PR00443
PR00318
PR00328

PIRSF

SMART

SM00275

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt