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P38405 (GNAL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 133. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Guanine nucleotide-binding protein G(olf) subunit alpha
Alternative name(s):
Adenylate cyclase-stimulating G alpha protein, olfactory type
Gene names
Name:GNAL
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length381 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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 structure

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.

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

Sequence similarities

Belongs to the G-alpha family. G(s) subfamily.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
Dystonia
   LigandGTP-binding
Magnesium
Metal-binding
Nucleotide-binding
   Molecular functionTransducer
   PTMADP-ribosylation
Lipoprotein
Palmitate
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processactivation of adenylate cyclase activity

Inferred from electronic annotation. Source: Ensembl

adenylate cyclase-activating G-protein coupled receptor signaling pathway

Traceable author statement. Source: Reactome

adenylate cyclase-activating dopamine receptor signaling pathway

Inferred from Biological aspect of Ancestor. Source: RefGenome

adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway

Traceable author statement. Source: Reactome

response to amphetamine

Inferred from electronic annotation. Source: Ensembl

response to caffeine

Inferred from electronic annotation. Source: Ensembl

sensory perception of smell

Inferred from Biological aspect of Ancestor. Source: RefGenome

signal transduction

Traceable author statement Ref.1. Source: ProtInc

synaptic transmission

Traceable author statement. Source: Reactome

   Cellular_componentextrinsic component of cytoplasmic side of plasma membrane

Inferred from Biological aspect of Ancestor. Source: RefGenome

heterotrimeric G-protein complex

Inferred from Biological aspect of Ancestor. Source: RefGenome

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functionG-protein beta/gamma-subunit complex binding

Inferred from Biological aspect of Ancestor. Source: RefGenome

G-protein coupled receptor binding

Inferred from Biological aspect of Ancestor. Source: RefGenome

GTP binding

Inferred from electronic annotation. Source: UniProtKB-KW

GTPase activity

Traceable author statement Ref.1. Source: ProtInc

metal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

signal transducer activity

Inferred from Biological aspect of Ancestor. Source: RefGenome

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P38405-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: P38405-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-41: MGCLGGNSKT...LQKERLAYKA → MGLCYSLRPL...LRDQKRDLQQ
Note: No experimental confirmation available.
Isoform 3 (identifier: P38405-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-207: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 381381Guanine nucleotide-binding protein G(olf) subunit alpha
PRO_0000203732

Regions

Nucleotide binding49 – 568GTP By similarity
Nucleotide binding185 – 1917GTP By similarity
Nucleotide binding210 – 2145GTP By similarity
Nucleotide binding279 – 2824GTP By similarity

Sites

Metal binding561Magnesium By similarity
Metal binding1911Magnesium By similarity
Binding site3531GTP; via amide nitrogen By similarity

Amino acid modifications

Modified residue1881ADP-ribosylarginine; by cholera toxin By similarity
Lipidation21N-palmitoyl glycine By similarity
Lipidation31S-palmitoyl cysteine By similarity

Natural variations

Alternative sequence1 – 207207Missing in isoform 3.
VSP_045130
Alternative sequence1 – 4141MGCLG…LAYKA → MGLCYSLRPLLFGGPGDDPC AASEPPVEDAQPAPAPALAP VRAAARDTARTLLPRGGEGS PACARPKADKPKEKRQRTEQ LSAEEREAAKEREAVKEARK VSRGIDRMLRDQKRDLQQ in isoform 2.
VSP_043050
Natural variant161V → F. Ref.8
VAR_069329
Natural variant102 – 1043Missing in DYT25.
VAR_069330
Natural variant1371V → M in DYT25; loss of function mutation. Ref.8
VAR_069331
Natural variant1551E → K in DYT25; loss of function mutation. Ref.8
VAR_069332

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 1994. Version 1.
Checksum: 9A73D2982FF9C9A3

FASTA38144,308
        10         20         30         40         50         60 
MGCLGGNSKT TEDQGVDEKE RREANKKIEK QLQKERLAYK ATHRLLLLGA GESGKSTIVK 

        70         80         90        100        110        120 
QMRILHVNGF NPEEKKQKIL DIRKNVKDAI VTIVSAMSTI IPPVPLANPE NQFRSDYIKS 

       130        140        150        160        170        180 
IAPITDFEYS QEFFDHVKKL WDDEGVKACF ERSNEYQLID CAQYFLERID SVSLVDYTPT 

       190        200        210        220        230        240 
DQDLLRCRVL TSGIFETRFQ VDKVNFHMFD VGGQRDERRK WIQCFNDVTA IIYVAACSSY 

       250        260        270        280        290        300 
NMVIREDNNT NRLRESLDLF ESIWNNRWLR TISIILFLNK QDMLAEKVLA GKSKIEDYFP 

       310        320        330        340        350        360 
EYANYTVPED ATPDAGEDPK VTRAKFFIRD LFLRISTATG DGKHYCYPHF TCAVDTENIR 

       370        380 
RVFNDCRDII QRMHLKQYEL L 

« Hide

Isoform 2 [UniParc].

Checksum: 89231879924C06A1
Show »

FASTA45852,455
Isoform 3 [UniParc].

Checksum: 62867F7352FAA433
Show »

FASTA17420,522

References

« Hide 'large scale' references
[1]"Human G(olf) alpha: complementary deoxyribonucleic acid structure and expression in pancreatic islets and other tissues outside the olfactory neuroepithelium and central nervous system."
Zigman J.M., Westermark G.T., Lamendola J., Boel E., Steiner D.F.
Endocrinology 133:2508-2514(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Insulinoma.
[2]"The gene for the human G protein Golf alpha."
Vuoristo J.T., Berrettini W.H., Overhauser J., Prockop D.J., Ferraro T.N., Ala-Kokko L.
Submitted (APR-1996) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Tongue.
[4]"DNA sequence and analysis of human chromosome 18."
Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. expand/collapse author list , Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K., Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.
Nature 437:551-555(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Testis.
[7]"cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org)."
Puhl H.L. III, Ikeda S.R., Aronstam R.S.
Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[8]"Mutations in GNAL cause primary torsion dystonia."
Fuchs T., Saunders-Pullman R., Masuho I., Luciano M.S., Raymond D., Factor S., Lang A.E., Liang T.W., Trosch R.M., White S., Ainehsazan E., Herve D., Sharma N., Ehrlich M.E., Martemyanov K.A., Bressman S.B., Ozelius L.J.
Nat. Genet. 45:88-92(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DYT25 102-PRO--VAL-104 DEL; MET-137 AND LYS-155, VARIANT PHE-16, CHARACTERIZATION OF VARIANTS DYT25 MET-137 AND LYS-155.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
L10665 mRNA. Translation: AAC37535.1.
U55184 expand/collapse EMBL AC list , U55180, U55181, U55182, U55183 Genomic DNA. Translation: AAD00085.1.
AF493893 mRNA. Translation: AAM12607.1.
AK316141 mRNA. Translation: BAH14512.1.
AP001120 Genomic DNA. No translation available.
AP001269 Genomic DNA. No translation available.
AP005137 Genomic DNA. No translation available.
CH471113 Genomic DNA. Translation: EAX01573.1.
BC050021 mRNA. Translation: AAH50021.1.
PIRI53271.
RefSeqNP_001135811.1. NM_001142339.2.
NP_001248372.1. NM_001261443.1.
NP_001248373.1. NM_001261444.1.
NP_892023.1. NM_182978.3.
UniGeneHs.136295.
Hs.741448.

3D structure databases

ProteinModelPortalP38405.
SMRP38405. Positions 11-381.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109036. 6 interactions.
IntActP38405. 4 interactions.
MINTMINT-4657066.
STRING9606.ENSP00000334051.

PTM databases

PhosphoSiteP38405.

Polymorphism databases

DMDM585178.

Proteomic databases

PaxDbP38405.
PRIDEP38405.

Protocols and materials databases

DNASU2774.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000269162; ENSP00000269162; ENSG00000141404. [P38405-1]
ENST00000334049; ENSP00000334051; ENSG00000141404. [P38405-2]
ENST00000423027; ENSP00000408489; ENSG00000141404. [P38405-1]
ENST00000535121; ENSP00000439023; ENSG00000141404. [P38405-1]
ENST00000602628; ENSP00000473600; ENSG00000141404. [P38405-3]
GeneID2774.
KEGGhsa:2774.
UCSCuc002kqc.3. human. [P38405-2]
uc002kqd.3. human. [P38405-1]

Organism-specific databases

CTD2774.
GeneCardsGC18P011925.
HGNCHGNC:4388. GNAL.
HPACAB015464.
MIM139312. gene.
615073. phenotype.
neXtProtNX_P38405.
Orphanet329466. Autosomal dominant focal dystonia, DYT25.
PharmGKBPA28770.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG325092.
HOGENOMHOG000038729.
HOVERGENHBG063184.
KOK04633.
OMADYSQEFF.
OrthoDBEOG7M3J09.
PhylomeDBP38405.
TreeFamTF300673.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
REACT_13685. Neuronal System.

Gene expression databases

ArrayExpressP38405.
BgeeP38405.
CleanExHS_GNAL.
GenevestigatorP38405.

Family and domain databases

Gene3D1.10.400.10. 1 hit.
3.40.50.300. 2 hits.
InterProIPR000367. Gprotein_alpha_S.
IPR001019. Gprotein_alpha_su.
IPR011025. GproteinA_insert.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERPTHR10218. PTHR10218. 1 hit.
PfamPF00503. G-alpha. 1 hit.
[Graphical view]
PRINTSPR00318. GPROTEINA.
PR00443. GPROTEINAS.
SMARTSM00275. G_alpha. 1 hit.
[Graphical view]
SUPFAMSSF47895. SSF47895. 1 hit.
SSF52540. SSF52540. 2 hits.
ProtoNetSearch...

Other

ChiTaRSGNAL. human.
GeneWikiGNAL.
GenomeRNAi2774.
NextBio10910.
PROP38405.
SOURCESearch...

Entry information

Entry nameGNAL_HUMAN
AccessionPrimary (citable) accession number: P38405
Secondary accession number(s): B7ZA26, Q86XU3
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1994
Last sequence update: October 1, 1994
Last modified: April 16, 2014
This is version 133 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 18

Human chromosome 18: entries, gene names and cross-references to MIM