ENSG00000141404


Homo sapiens

Features
Gene ID: ENSG00000141404
  
Biological name :GNAL
  
Synonyms : GNAL / G protein subunit alpha L / P38405
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 18
Strand: 1
Band: p11.21
Gene start: 11688956
Gene end: 11885685
  
Corresponding Affymetrix probe sets: 206355_at (Human Genome U133 Plus 2.0 Array)   206356_s_at (Human Genome U133 Plus 2.0 Array)   213924_at (Human Genome U133 Plus 2.0 Array)   214071_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000467709
Ensembl peptide - ENSP00000334051
Ensembl peptide - ENSP00000269162
Ensembl peptide - ENSP00000467345
Ensembl peptide - ENSP00000473600
Ensembl peptide - ENSP00000408489
Ensembl peptide - ENSP00000439023
Ensembl peptide - ENSP00000466709
NCBI entrez gene - 2774     See in Manteia.
OMIM - 139312
RefSeq - NM_182978
RefSeq - NM_001142339
RefSeq - NM_001261443
RefSeq - NM_001261444
RefSeq Peptide - NP_001135811
RefSeq Peptide - NP_892023
RefSeq Peptide - NP_001248373
RefSeq Peptide - NP_001248372
swissprot - P38405
swissprot - A8K1Y9
swissprot - K7EMY6
swissprot - K7EPE2
swissprot - K7EQ80
Ensembl - ENSG00000141404
  
Related genetic diseases (OMIM): 615073 - Dystonia 25, 615073
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CABZ01075509.1ENSDARG00000102797Danio rerio
 GNALENSGALG00000013785Gallus gallus
 GnalENSMUSG00000024524Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GNAS / O95467 / Q5JWF2 / P63092 / P84996 / GNAS complex locusENSG0000008746063


Protein motifs (from Interpro)
Interpro ID Name
 IPR000367  G-protein alpha subunit, group S
 IPR001019  Guanine nucleotide binding protein (G-protein), alpha subunit
 IPR011025  G protein alpha subunit, helical insertion
 IPR027417  P-loop containing nucleoside triphosphate hydrolase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0007186 G-protein coupled receptor signaling pathway IEA
 biological_processGO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007190 activation of adenylate cyclase activity TAS
 biological_processGO:0007191 adenylate cyclase-activating dopamine receptor signaling pathway IBA
 biological_processGO:0007193 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007608 sensory perception of smell IBA
 cellular_componentGO:0005834 heterotrimeric G-protein complex IBA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0001664 G-protein coupled receptor binding IBA
 molecular_functionGO:0003924 GTPase activity TAS
 molecular_functionGO:0004871 obsolete signal transducer activity IBA
 molecular_functionGO:0005525 GTP binding IEA
 molecular_functionGO:0019001 guanyl nucleotide binding IEA
 molecular_functionGO:0031683 G-protein beta/gamma-subunit complex binding IBA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Adenylate cyclase activating pathway
Adenylate cyclase inhibitory pathway
Olfactory Signaling Pathway


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000473 Torticollis 
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 HP:0002451 Limb dystonia 
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 HP:0002530 Axial dystonia 
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 HP:0012049 Laryngeal dystonia "A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech." [HPO:probinson]
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 HP:0031008 Lingual dystonia "Involuntary protrusions, movements, spams and contortions of the tongue." [PMID:24808861]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000127928 GNGT1 / P63211 / G protein subunit gamma transducin 1  / reaction / complex
 ENSG00000114353 GNAI2 / P04899 / G protein subunit alpha i2  / complex / reaction
 ENSG00000127955 GNAI1 / P63096 / G protein subunit alpha i1  / reaction / complex
 ENSG00000214415 GNAT3 / A8MTJ3 / G protein subunit alpha transducin 3  / complex / reaction
 ENSG00000065135 GNAI3 / P08754 / G protein subunit alpha i3  / reaction / complex
 ENSG00000078369 GNB1 / P62873 / G protein subunit beta 1  / reaction / complex






 

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