• Gene id: 2774

Gene Summary

• Gene Symbol: GNAL   Gene   UCSC   Ensembl
• Aliases: DYT25
• Gene name: G protein subunit alpha L
• Alternate names: guanine nucleotide-binding protein G(olf) subunit alpha, adenylate cyclase-stimulating G alpha protein, olfactory type, guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type, guanine nucleotide binding protein ,
• Gene location: 18p11.21 (11689014: 11885684)     Exons: 6     NC_000018.10
• Gene summary(Entrez): This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutatio
• OMIM: 139312

Protein Summary

• Protein general information: P38405  
  • Name: Guanine nucleotide binding protein G(olf) subunit alpha (Adenylate cyclase stimulating G alpha protein, olfactory type)
  • Length: 381  
  • Mass: 44308
  • 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.
• Sequence:

  MGCLGGNSKTTEDQGVDEKERREANKKIEKQLQKERLAYKATHRLLLLGAGESGKSTIVKQMRILHVNGFNPEEK
  KQKILDIRKNVKDAIVTIVSAMSTIIPPVPLANPENQFRSDYIKSIAPITDFEYSQEFFDHVKKLWDDEGVKACF
  ERSNEYQLIDCAQYFLERIDSVSLVDYTPTDQDLLRCRVLTSGIFETRFQVDKVNFHMFDVGGQRDERRKWIQCF
  NDVTAIIYVAACSSYNMVIREDNNTNRLRESLDLFESIWNNRWLRTISIILFLNKQDMLAEKVLAGKSKIEDYFP
  EYANYTVPEDATPDAGEDPKVTRAKFFIRDLFLRISTATGDGKHYCYPHFTCAVDTENIRRVFNDCRDIIQRMHL
  KQYELL

• Structural information:
  • Protein Domains: (41..38-)
    (/note="G-alpha-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01230"-)
  • Interpro: IPR000367  IPR001019  IPR011025  IPR027417  
  • Prosite: PS51882
  • CDD: cd00066
  • STRING: ENSP00000334051
• Other Databases: GeneCards:  GNAL  Malacards:  GNAL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007606	sensory perception of chemical stimulus	IBA	biological process
GO:0007191	adenylate cyclase-activating dopamine receptor signaling pathway	IBA	biological process
GO:0007188	adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA	biological process
GO:0003924	GTPase activity	IBA	molecular function
GO:0001664	G protein-coupled receptor binding	IBA	molecular function
GO:0031683	G-protein beta/gamma-subunit complex binding	IBA	molecular function
GO:0005834	heterotrimeric G-protein complex	IBA	cellular component
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0019001	guanyl nucleotide binding	IEA	molecular function
GO:0031683	G-protein beta/gamma-subunit complex binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003924	GTPase activity	TAS	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007193	adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	TAS	biological process
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	TAS	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05012	Parkinson disease
hsa04020	Calcium signaling pathway
hsa04740	Olfactory transduction
hsa04728	Dopaminergic synapse
hsa05142	Chagas disease
hsa05146	Amoebiasis

Diseases

Associated diseases	References
Primary dystonia	KEGG:H00831
Primary dystonia	KEGG:H00831
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray