Homo sapiens Protein: GNAL | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-997.7 | ||||||||||||||||||||||
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 | ENSP00000334051 | ||||||||||||||||||||||
InnateDB Gene | IDBG-995 (GNAL) | ||||||||||||||||||||||
Protein Structure |
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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.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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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 |
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PFAM |
PF00503
PF00025 |
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PRINTS |
PR00443
PR00318 PR00328 |
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PIRSF | |||||||||||||||||||||||
SMART |
SM00275
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | P38405 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-P38405 | ||||||||||||||||||||||
TrEMBL | Q8N2B4 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 2774 | ||||||||||||||||||||||
UniGene | Hs.741448 | ||||||||||||||||||||||
RefSeq | NP_892023 | ||||||||||||||||||||||
HUGO | HGNC:4388 | ||||||||||||||||||||||
OMIM | 139312 | ||||||||||||||||||||||
CCDS | CCDS11851 | ||||||||||||||||||||||
HPRD | 00758 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AF493893 AK090868 AK316141 AP001120 AP001269 AP005137 BC050021 CH471113 L10665 U55180 U55181 U55182 U55183 U55184 | ||||||||||||||||||||||
GenPept | AAC37535 AAD00085 AAH50021 AAM12607 BAC03535 BAH14512 EAX01573 | ||||||||||||||||||||||