GNAL
entrez
2774
canonical
uniprot
P38405
canonical
ensembl
ENSG00000141404
resolver
ensp
ENSP00000269162
resolver
ensp
ENSP00000334051
resolver
ensp
ENSP00000408489
resolver
ensp
ENSP00000439023
resolver
ensp
ENSP00000473600
resolver
ensp
ENSP00000783405
resolver
genesymbol
GNAL
resolver
hgnc
HGNC:4388
resolver
uniprot
A8K1Y9
resolver
uniprot
B7ZA26
resolver
uniprot
Q86XU3
resolver
uniprot_entry
A8K1Y9_HUMAN
resolver
uniprot_entry
GNAL_HUMAN
resolver
uniprot_sec
B7ZA26
resolver
uniprot_sec
Q86XU3
resolver
amino_acid_sequence
MGCLGGNSKTTEDQGVDEKERREANKKIEKQLQKERLAYKATHRLLLLGAGESGKSTIVKQMRILHVNGFNPEEKKQKILDIRKNVKDAIVTIVSAMSTIIPPVPLANPENQFRSDYIKSIAPITDFEYSQEFFDHVKKLWDDEGVKACFERSNEYQLIDCAQYFLERIDSVSLVDYTPTDQDLLRCRVLTSGIFETRFQVDKVNFHMFDVGGQRDERRKWIQCFNDVTAIIYVAACSSYNMVIREDNNTNRLRESLDLFESIWNNRWLRTISIILFLNKQDMLAEKVLAGKSKIEDYFPEYANYTVPEDATPDAGEDPKVTRAKFFIRDLFLRISTATGDGKHYCYPHFTCAVDTENIRRVFNDCRDIIQRMHLKQYELL
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:23222958}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.5.-
uniprot
proteins
function
FUNCTION: Guanine nucleotide-binding protein (G protein) involved as transducer in olfactory signal transduction controlled by G protein-coupled receptors (GPCRs) (By similarity). Contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state (By similarity). Signaling by an activated GPCR promotes GDP release and GTP binding (By similarity). The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal (By similarity). Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins (By similarity). GNAL/G(olf) alpha specifically mediates olfactory signal transduction within the olfactory neuroepithelium and the basal ganglia following GPCRs activation (By similarity). Acts by promoting the specific activation of adenylyl cyclase ADCY3, resulting in increased levels of the signaling molecule cAMP (By similarity). {ECO:0000250|UniProtKB:P38406, ECO:0000250|UniProtKB:Q8CGK7}.
uniprot
proteins
mass_dalton
44308
uniprot
proteins
protein_family
G(s) subfamily
uniprot
proteins
protein_family
G-alpha family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16177791
uniprot
proteins
pubmed
23222958
uniprot
proteins
pubmed
23994616
uniprot
proteins
pubmed
36931277
uniprot
proteins
pubmed
37225986
uniprot
proteins
pubmed
8243272
uniprot
proteins
sequence_length
381
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q8CGK7}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q8CGK7}; Cytoplasmic side {ECO:0000250|UniProtKB:Q8CGK7}. Note=Associated to the plasma membrane via lipid-anchor. {ECO:0000250|UniProtKB:P04896}.
uniprot
proteins