Human Gene GNAL (ENST00000334049.11_4) from GENCODE V47lift37
  Description: G protein subunit alpha L, transcript variant 1 (from RefSeq NM_182978.4)
Gencode Transcript: ENST00000334049.11_4
Gencode Gene: ENSG00000141404.17_12
Transcript (Including UTRs)
   Position: hg19 chr18:11,689,263-11,885,684 Size: 196,422 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr18:11,689,563-11,881,134 Size: 191,572 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:11,689,263-11,885,684)mRNA (may differ from genome)Protein (458 aa)
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-  Comments and Description Text from UniProtKB
  ID: GNAL_HUMAN
DESCRIPTION: RecName: Full=Guanine nucleotide-binding protein G(olf) subunit alpha; AltName: Full=Adenylate cyclase-stimulating G alpha protein, olfactory type;
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.
SUBUNIT: G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site.
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.
SIMILARITY: Belongs to the G-alpha family. G(s) subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GNAL
Diseases sorted by gene-association score: dystonia 25* (1689), dystonia (18), cervical dystonia (14), focal dystonia (11), pseudohypoparathyroidism (10), spasmodic dystonia (8), chromosome 18p deletion syndrome (8), bipolar disorder (6), blepharospasm (6), schizophrenia (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.10 RPKM in Brain - Nucleus accumbens (basal ganglia)
Total median expression: 37.97 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -140.90300-0.470 Picture PostScript Text
3' UTR -1556.804550-0.342 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000367 - Gprotein_alpha_S
IPR001019 - Gprotein_alpha_su
IPR011025 - GproteinA_insert

Pfam Domains:
PF00025 - ADP-ribosylation factor family
PF00503 - G-protein alpha subunit

SCOP Domains:
47895 - Transducin (alpha subunit), insertion domain
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on P38405
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
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: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:0007608 sensory perception of smell

Cellular Component:
GO:0005834 heterotrimeric G-protein complex
GO:0005886 plasma membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  KJ905205 - Synthetic construct Homo sapiens clone ccsbBroadEn_14657 GNAL gene, encodes complete protein.
AK295088 - Homo sapiens cDNA FLJ55310 complete cds, highly similar to Guanine nucleotide-binding protein G(olf) subunit alpha.
BC050021 - Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type, mRNA (cDNA clone MGC:51307 IMAGE:5297878), complete cds.
CU690628 - Synthetic construct Homo sapiens gateway clone IMAGE:100020896 5' read GNAL mRNA.
HQ448004 - Synthetic construct Homo sapiens clone IMAGE:100071374; CCSB010675_02 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory typ (GNAL) gene, encodes complete protein.
AK090868 - Homo sapiens cDNA FLJ33549 fis, clone BRAMY2009013, highly similar to GUANINE NUCLEOTIDE-BINDING PROTEIN G.
AK313902 - Homo sapiens cDNA, FLJ94539, Homo sapiens guanine nucleotide binding protein (G protein), alphaactivating activity polypeptide, olfactory type (GNAL), transcriptvariant 2, mRNA.
AK290054 - Homo sapiens cDNA FLJ78702 complete cds, highly similar to Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type (GNAL), transcript variant 2, mRNA.
L10665 - Human GTP-binding protein superfamily, G protein alpha-olf subunit (olfactory) mRNA, complete cds.
AF493893 - Homo sapiens guanine nucleotide binding protein alpha olf (GNAL) mRNA, complete cds.
AK307260 - Homo sapiens cDNA, FLJ97208.
AK316141 - Homo sapiens cDNA, FLJ79040 complete cds, highly similar to Guanine nucleotide-binding protein G(olf) subunit alpha.
JD137805 - Sequence 118829 from Patent EP1572962.
JD383467 - Sequence 364491 from Patent EP1572962.
JD252070 - Sequence 233094 from Patent EP1572962.
JD121659 - Sequence 102683 from Patent EP1572962.
JD137895 - Sequence 118919 from Patent EP1572962.
JD250523 - Sequence 231547 from Patent EP1572962.
JD271215 - Sequence 252239 from Patent EP1572962.
JD205726 - Sequence 186750 from Patent EP1572962.
JD314777 - Sequence 295801 from Patent EP1572962.
JD288383 - Sequence 269407 from Patent EP1572962.
JD249204 - Sequence 230228 from Patent EP1572962.
JD178049 - Sequence 159073 from Patent EP1572962.
JD271071 - Sequence 252095 from Patent EP1572962.
JD396664 - Sequence 377688 from Patent EP1572962.
JD403679 - Sequence 384703 from Patent EP1572962.
JD380757 - Sequence 361781 from Patent EP1572962.
JD066480 - Sequence 47504 from Patent EP1572962.
JD180683 - Sequence 161707 from Patent EP1572962.
JD059542 - Sequence 40566 from Patent EP1572962.
JD408532 - Sequence 389556 from Patent EP1572962.
CU687285 - Synthetic construct Homo sapiens gateway clone IMAGE:100022915 3' read MPPE1 mRNA.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P38405 (Reactome details) participates in the following event(s):

R-HSA-381749 G Protein trimer formation (olfactory)
R-HSA-170671 G alpha-olf:GTP binds to Gi alpha1:GTP:adenylate cyclase complex
R-HSA-170672 Galpha-olf:GTP binds to adenylate cyclase and activates it
R-HSA-170674 Dissociation of the Gi alpha:G olf complex
R-HSA-170677 The G alpha-olf:GDP:Adenylate cyclase complex dissociates
R-HSA-381750 Olfactory Receptor - G Protein olfactory trimer complex formation
R-HSA-170685 Adenylaye cyclase increases the GTPase activity of G alpha-olf
R-HSA-170666 Adenylate cyclase increases the GTPase activity of G alpha-olf
R-HSA-170686 Adenylate cyclase increases the GTPase activity of Gi alpha
R-HSA-170676 Adenylate cyclase converts ATP into cyclic AMP
R-HSA-381753 Olfactory Signaling Pathway
R-HSA-170670 Adenylate cyclase inhibitory pathway
R-HSA-170660 Adenylate cyclase activating pathway
R-HSA-418555 G alpha (s) signalling events
R-HSA-112040 G-protein mediated events
R-HSA-997269 Inhibition of adenylate cyclase pathway
R-HSA-388396 GPCR downstream signalling
R-HSA-111885 Opioid Signalling
R-HSA-991365 Activation of GABAB receptors
R-HSA-372790 Signaling by GPCR
R-HSA-418594 G alpha (i) signalling events
R-HSA-977444 GABA B receptor activation
R-HSA-162582 Signal Transduction
R-HSA-977443 GABA receptor activation
R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: B7ZA26, ENST00000334049.1, ENST00000334049.10, ENST00000334049.2, ENST00000334049.3, ENST00000334049.4, ENST00000334049.5, ENST00000334049.6, ENST00000334049.7, ENST00000334049.8, ENST00000334049.9, GNAL_HUMAN, NM_182978, P38405, Q86XU3, uc317tuz.1, uc317tuz.2
UCSC ID: ENST00000334049.11_4
RefSeq Accession: NM_182978.4
Protein: P38405 (aka GNAL_HUMAN or GBAF_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene GNAL:
dystonia-ov (Hereditary Dystonia Overview)
gnal-dystonia (DYT-GNAL)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.