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P11488 (GNAT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 154. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Guanine nucleotide-binding protein G(t) subunit alpha-1
Alternative name(s):
Transducin alpha-1 chain
Gene names
Name:GNAT1
Synonyms:GNATR
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length350 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. Interacts (when myristoylated) with UNC119; interaction is required for localization in sensory neurons. Ref.9

Tissue specificity

Rod.

Involvement in disease

Night blindness, congenital stationary, autosomal dominant 3 (CSNBAD3) [MIM:610444]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.
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(i/o/t/z) subfamily.

Ontologies

Keywords
   Biological processSensory transduction
Vision
   DiseaseCongenital stationary night blindness
Disease mutation
   LigandGTP-binding
Magnesium
Metal-binding
Nucleotide-binding
   Molecular functionTransducer
   PTMADP-ribosylation
Lipoprotein
Myristate
Phosphoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processadenylate cyclase-modulating G-protein coupled receptor signaling pathway

Inferred from Biological aspect of Ancestor. Source: RefGenome

cell proliferation

Inferred from electronic annotation. Source: Ensembl

cellular response to electrical stimulus

Inferred from electronic annotation. Source: Ensembl

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 PubMed 17584859. Source: UniProtKB

eye photoreceptor cell development

Inferred from electronic annotation. Source: Ensembl

negative regulation of cyclic-nucleotide phosphodiesterase activity

Inferred from sequence or structural similarity. Source: UniProtKB

phototransduction, visible light

Inferred from mutant phenotype PubMed 17584859. Source: UniProtKB

positive regulation of cyclic-nucleotide phosphodiesterase activity

Inferred from electronic annotation. Source: Ensembl

regulation of rhodopsin mediated signaling pathway

Traceable author statement. Source: Reactome

response to light intensity

Inferred from electronic annotation. Source: Ensembl

response to light stimulus

Inferred from sequence or structural similarity. Source: UniProtKB

retina development in camera-type eye

Inferred from electronic annotation. Source: Ensembl

rhodopsin mediated signaling pathway

Traceable author statement. Source: Reactome

sensory perception of umami taste

Inferred from Biological aspect of Ancestor. Source: RefGenome

signal transduction

Non-traceable author statement PubMed 17584859Ref.8. Source: UniProtKB

visual perception

Traceable author statement Ref.8. Source: UniProtKB

   Cellular_componentapical plasma membrane

Inferred from electronic annotation. Source: Ensembl

cytosol

Traceable author statement. Source: Reactome

extrinsic 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

membrane

Non-traceable author statement PubMed 7822269. Source: UniProtKB

neuronal cell body

Inferred from electronic annotation. Source: Ensembl

photoreceptor connecting cilium

Inferred from electronic annotation. Source: Ensembl

photoreceptor disc membrane

Traceable author statement. Source: Reactome

photoreceptor inner segment

Inferred from direct assay Ref.2. Source: UniProtKB

photoreceptor outer segment

Inferred from direct assay Ref.2. 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 receptor binding

Inferred from Biological aspect of Ancestor. Source: RefGenome

GDP binding

Inferred from sequence or structural similarity. Source: UniProtKB

GTP binding

Inferred from sequence or structural similarity. Source: UniProtKB

GTPase activity

Non-traceable author statement PubMed 17584859. Source: UniProtKB

acyl binding

Inferred from sequence or structural similarity. Source: UniProtKB

metal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

protein kinase binding

Inferred from sequence or structural similarity. Source: UniProtKB

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
Chain2 – 350349Guanine nucleotide-binding protein G(t) subunit alpha-1
PRO_0000203737

Regions

Nucleotide binding36 – 438GTP By similarity
Nucleotide binding171 – 1777GTP By similarity
Nucleotide binding196 – 2005GTP By similarity
Nucleotide binding265 – 2684GTP By similarity

Sites

Metal binding431Magnesium By similarity
Metal binding1771Magnesium By similarity
Binding site3221GTP; via amide nitrogen By similarity

Amino acid modifications

Modified residue1421Phosphotyrosine; by SRC Ref.7
Modified residue1741ADP-ribosylarginine; by cholera toxin By similarity
Modified residue3471ADP-ribosylcysteine; by pertussis toxin By similarity
Lipidation21N-myristoyl glycine Ref.9

Natural variations

Natural variant381G → D in CSNBAD3; in the Nougaret family descendants. Ref.8
VAR_009279

Experimental info

Mutagenesis21G → A: Abolishes myristoylation, interaction with UNC119 and localization. Ref.9
Sequence conflict2041R → P in CAA33196. Ref.3
Sequence conflict2241S → T in CAA33196. Ref.3
Sequence conflict2741I → V in CAA33196. Ref.3
Sequence conflict3311V → C in CAA33196. Ref.3

Secondary structure

... 350
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P11488 [UniParc].

Last modified January 23, 2007. Version 5.
Checksum: D901013CFF5B0C7F

FASTA35040,041
        10         20         30         40         50         60 
MGAGASAEEK HSRELEKKLK EDAEKDARTV KLLLLGAGES GKSTIVKQMK IIHQDGYSLE 

        70         80         90        100        110        120 
ECLEFIAIIY GNTLQSILAI VRAMTTLNIQ YGDSARQDDA RKLMHMADTI EEGTMPKEMS 

       130        140        150        160        170        180 
DIIQRLWKDS GIQACFERAS EYQLNDSAGY YLSDLERLVT PGYVPTEQDV LRSRVKTTGI 

       190        200        210        220        230        240 
IETQFSFKDL NFRMFDVGGQ RSERKKWIHC FEGVTCIIFI AALSAYDMVL VEDDEVNRMH 

       250        260        270        280        290        300 
ESLHLFNSIC NHRYFATTSI VLFLNKKDVF FEKIKKAHLS ICFPDYDGPN TYEDAGNYIK 

       310        320        330        340        350 
VQFLELNMRR DVKEIYSHMT CATDTQNVKF VFDAVTDIII KENLKDCGLF 

« Hide

References

« Hide 'large scale' references
[1]"Characterization of the human rod transducin alpha-subunit gene."
Fong S.-L.
Nucleic Acids Res. 20:2865-2870(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]"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.
[3]"Nucleotide sequence for a cDNA encoding the alpha subunit of retinal transducin (GNAT1) isolated from the human eye."
van Dop C., Medynski D.C., Apone L.M.
Nucleic Acids Res. 17:4887-4887(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Eye.
[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 DNA sequence, annotation and analysis of human chromosome 3."
Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
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].
[7]"Tyrosine phosphorylation of the alpha subunit of transducin and its association with Src in photoreceptor rod outer segments."
Bell M.W., Desai N., Guo X.X., Ghalayini A.J.
J. Neurochem. 75:2006-2019(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION AT TYR-142.
[8]"Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness."
Dryja T.P., Hahn L.B., Reboul T., Arnaud B.
Nat. Genet. 13:358-360(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CSNBAD3 ASP-38.
[9]"UNC119 is required for G protein trafficking in sensory neurons."
Zhang H., Constantine R., Vorobiev S., Chen Y., Seetharaman J., Huang Y.J., Xiao R., Montelione G.T., Gerstner C.D., Davis M.W., Inana G., Whitby F.G., Jorgensen E.M., Hill C.P., Tong L., Baehr W.
Nat. Neurosci. 14:874-880(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 2-11 IN COMPLEX WITH UNC119, MYRISTOYLATION AT GLY-2, INTERACTION WITH UNC119, MUTAGENESIS OF GLY-2.
+Additional computationally mapped references.

Web resources

Mutations of the GNAT1 gene

Retina International's Scientific Newsletter

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X63749 Genomic DNA. Translation: CAB37839.2.
X15088 mRNA. Translation: CAA33196.1.
AF493908 mRNA. Translation: AAM12622.1.
AC002077 Genomic DNA. Translation: AAB54048.1.
BC095505 mRNA. Translation: AAH95505.1.
CCDSCCDS2812.1.
PIRRGHUT1. S22953.
RefSeqNP_000163.2. NM_000172.3.
NP_653082.1. NM_144499.2.
UniGeneHs.517978.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3RBQX-ray2.00G/H/I/J/K/L2-11[»]
ProteinModelPortalP11488.
SMRP11488. Positions 27-344.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109041. 2 interactions.
IntActP11488. 5 interactions.
MINTMINT-4774086.
STRING9606.ENSP00000232461.

PTM databases

PhosphoSiteP11488.

Polymorphism databases

DMDM121032.

Proteomic databases

PaxDbP11488.
PRIDEP11488.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000232461; ENSP00000232461; ENSG00000114349.
ENST00000433068; ENSP00000387555; ENSG00000114349.
GeneID2779.
KEGGhsa:2779.
UCSCuc003cyl.2. human.

Organism-specific databases

CTD2779.
GeneCardsGC03P050229.
HGNCHGNC:4393. GNAT1.
MIM139330. gene.
610444. phenotype.
neXtProtNX_P11488.
Orphanet215. Congenital stationary night blindness.
PharmGKBPA28773.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG322962.
HOGENOMHOG000038730.
HOVERGENHBG063184.
InParanoidP11488.
KOK04631.
OMAMHLADTI.
OrthoDBEOG72C50B.
PhylomeDBP11488.
TreeFamTF300673.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
REACT_116125. Disease.

Gene expression databases

ArrayExpressP11488.
BgeeP11488.
CleanExHS_GNAT1.
GenevestigatorP11488.

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

GeneWikiGNAT1.
GenomeRNAi2779.
NextBio10945.
PROP11488.
SOURCESearch...

Entry information

Entry nameGNAT1_HUMAN
AccessionPrimary (citable) accession number: P11488
Secondary accession number(s): Q4VBN2
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: January 23, 2007
Last modified: July 9, 2014
This is version 154 of the entry and version 5 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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

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 3

Human chromosome 3: entries, gene names and cross-references to MIM