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P19087 (GNAT2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 159. 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·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Guanine nucleotide-binding protein G(t) subunit alpha-2
Alternative name(s):
Transducin alpha-2 chain
Gene names
Name:GNAT2
Synonyms:GNATC
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length354 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
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. Transducin is an amplifier and one of the transducers of a visual impulse that performs the coupling between rhodopsin and cGMP-phosphodiesterase.

Subunit structure

G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site.

Tissue specificity

Retinal rod outer segment.

Involvement in disease

Achromatopsia 4 (ACHM4) [MIM:613856]: An ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Sequence similarities

Belongs to the G-alpha family. G(i/o/t/z) subfamily.

Ontologies

Keywords
   Biological processSensory transduction
Vision
   Coding sequence diversityPolymorphism
   LigandGTP-binding
Magnesium
Metal-binding
Nucleotide-binding
   Molecular functionTransducer
   PTMADP-ribosylation
Lipoprotein
Myristate
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processG-protein coupled receptor signaling pathway

Non-traceable author statement Ref.1. Source: UniProtKB

adenylate cyclase-modulating G-protein coupled receptor signaling pathway

Inferred from Biological aspect of Ancestor. Source: RefGenome

detection of chemical stimulus involved in sensory perception of bitter taste

Inferred from Biological aspect of Ancestor. Source: RefGenome

detection of light stimulus involved in visual perception

Inferred from mutant phenotype Ref.6. Source: UniProtKB

phototransduction

Non-traceable author statement Ref.1. Source: UniProtKB

positive regulation of cytosolic calcium ion concentration

Inferred from electronic annotation. Source: Ensembl

response to light intensity

Inferred from electronic annotation. Source: Ensembl

retinal cone cell development

Inferred from electronic annotation. Source: Ensembl

visual perception

Non-traceable author statement Ref.1. Source: UniProtKB

   Cellular_componentextrinsic component of cytoplasmic side of plasma membrane

Inferred from Biological aspect of Ancestor. Source: RefGenome

heterotrimeric G-protein complex

Non-traceable author statement Ref.2Ref.1. Source: UniProtKB

photoreceptor inner segment

Inferred from direct assay Ref.1. Source: UniProtKB

photoreceptor outer segment

Inferred from direct assay Ref.1. Source: UniProtKB

photoreceptor outer segment membrane

Inferred from sequence or structural similarity. Source: UniProtKB

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 photoreceptor activity

Non-traceable author statement Ref.1. Source: UniProtKB

G-protein coupled receptor binding

Inferred from Biological aspect of Ancestor. Source: RefGenome

GTP binding

Non-traceable author statement Ref.2. Source: UniProtKB

GTPase activity

Inferred from Biological aspect of Ancestor. Source: RefGenome

metal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

signal transducer activity

Inferred from Biological aspect of Ancestor. Source: RefGenome

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed By similarity
Chain2 – 354353Guanine nucleotide-binding protein G(t) subunit alpha-2
PRO_0000203740

Regions

Nucleotide binding40 – 478GTP By similarity
Nucleotide binding175 – 1817GTP By similarity
Nucleotide binding200 – 2045GTP By similarity
Nucleotide binding269 – 2724GTP By similarity

Sites

Metal binding471Magnesium By similarity
Metal binding1811Magnesium By similarity
Binding site3261GTP; via amide nitrogen By similarity

Amino acid modifications

Modified residue1781ADP-ribosylarginine; by cholera toxin By similarity
Modified residue3511ADP-ribosylcysteine; by pertussis toxin By similarity
Lipidation21N-myristoyl glycine By similarity

Natural variations

Natural variant1071L → I. Ref.7
Corresponds to variant rs3738766 [ dbSNP | Ensembl ].
VAR_047623
Natural variant1241V → M. Ref.7
Corresponds to variant rs41280330 [ dbSNP | Ensembl ].
VAR_047624
Natural variant1831G → D.
Corresponds to variant rs1799940 [ dbSNP | Ensembl ].
VAR_014783

Experimental info

Sequence conflict106 – 1072QL → HV Ref.1

Sequences

Sequence LengthMass (Da)Tools
P19087 [UniParc].

Last modified January 23, 2007. Version 4.
Checksum: BFF8D50C024F18DA

FASTA35440,176
        10         20         30         40         50         60 
MGSGASAEDK ELAKRSKELE KKLQEDADKE AKTVKLLLLG AGESGKSTIV KQMKIIHQDG 

        70         80         90        100        110        120 
YSPEECLEFK AIIYGNVLQS ILAIIRAMTT LGIDYAEPSC ADDGRQLNNL ADSIEEGTMP 

       130        140        150        160        170        180 
PELVEVIRRL WKDGGVQACF ERAAEYQLND SASYYLNQLE RITDPEYLPS EQDVLRSRVK 

       190        200        210        220        230        240 
TTGIIETKFS VKDLNFRMFD VGGQRSERKK WIHCFEGVTC IIFCAALSAY DMVLVEDDEV 

       250        260        270        280        290        300 
NRMHESLHLF NSICNHKFFA ATSIVLFLNK KDLFEEKIKK VHLSICFPEY DGNNSYDDAG 

       310        320        330        340        350 
NYIKSQFLDL NMRKDVKEIY SHMTCATDTQ NVKFVFDAVT DIIIKENLKD CGLF 

« Hide

References

« Hide 'large scale' references
[1]"Alpha transducin is present in blue-, green-, and red-sensitive cone photoreceptors in the human retina."
Lerea C.L., Bunt-Milam A.H., Hurley J.B.
Neuron 3:367-376(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Retina.
[2]"Molecular cloning and sequence analysis of cDNA and genomic DNA for the human cone transducin alpha subunit."
Kubo M., Hirano T., Kakinuma M.
FEBS Lett. 291:245-248(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[3]"Characterization of the gene encoding human cone transducin alpha-subunit (GNAT2)."
Morris A.T., Fong S.
Genomics 17:442-448(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]"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].
[5]"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].
Tissue: Eye.
[6]"Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia."
Kohl S., Baumann B., Rosenberg T., Kellner U., Lorenz B., Vadala M., Jacobson S.G., Wissinger B.
Am. J. Hum. Genet. 71:422-425(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN ACHROMATOPSIA TYPE 4.
[7]"Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases."
Nishiguchi K.M., Sandberg M.A., Gorji N., Berson E.L., Dryja T.P.
Hum. Mutat. 25:248-258(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ILE-107 AND MET-124.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
D10384 Genomic DNA. Translation: BAA01211.1.
Z18859 Genomic DNA. Translation: CAA79310.1.
AF493909 mRNA. Translation: AAM12623.1.
BC000233 mRNA. Translation: AAH00233.1.
CCDSCCDS803.1.
PIRRGHUT2. A47219.
RefSeqNP_005263.1. NM_005272.3.
UniGeneHs.36973.

3D structure databases

ProteinModelPortalP19087.
SMRP19087. Positions 14-354.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109042. 4 interactions.
IntActP19087. 1 interaction.
STRING9606.ENSP00000251337.

PTM databases

PhosphoSiteP19087.

Polymorphism databases

DMDM232151.

Proteomic databases

PaxDbP19087.
PRIDEP19087.

Protocols and materials databases

DNASU2780.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000351050; ENSP00000251337; ENSG00000134183.
GeneID2780.
KEGGhsa:2780.
UCSCuc001dya.3. human.

Organism-specific databases

CTD2780.
GeneCardsGC01M110145.
GeneReviewsGNAT2.
HGNCHGNC:4394. GNAT2.
HPACAB031479.
MIM139340. gene.
613856. phenotype.
neXtProtNX_P19087.
Orphanet49382. Achromatopsia.
1871. Progressive cone dystrophy.
PharmGKBPA28774.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG322962.
HOGENOMHOG000038730.
HOVERGENHBG063184.
InParanoidP19087.
KOK04631.
OMAYGNILQS.
OrthoDBEOG72C50B.
PhylomeDBP19087.
TreeFamTF300673.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.

Gene expression databases

ArrayExpressP19087.
BgeeP19087.
CleanExHS_GNAT2.
GenevestigatorP19087.

Family and domain databases

Gene3D1.10.400.10. 1 hit.
3.40.50.300. 2 hits.
InterProIPR001408. Gprotein_alpha_I.
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.
PR00441. GPROTEINAI.
SMARTSM00275. G_alpha. 1 hit.
[Graphical view]
SUPFAMSSF47895. SSF47895. 1 hit.
SSF52540. SSF52540. 2 hits.
ProtoNetSearch...

Other

GeneWikiGNAT2.
GenomeRNAi2780.
NextBio10951.
PROP19087.
SOURCESearch...

Entry information

Entry nameGNAT2_HUMAN
AccessionPrimary (citable) accession number: P19087
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1990
Last sequence update: January 23, 2007
Last modified: July 9, 2014
This is version 159 of the entry and version 4 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 1

Human chromosome 1: entries, gene names and cross-references to MIM