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Protein

Guanine nucleotide-binding protein G(t) subunit alpha-1

Gene

GNAT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi43 – 431MagnesiumBy similarity
Metal bindingi177 – 1771MagnesiumBy similarity
Binding sitei322 – 3221GTP; via amide nitrogenBy similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi36 – 438GTPBy similarity
Nucleotide bindingi171 – 1777GTPBy similarity
Nucleotide bindingi196 – 2005GTPBy similarity
Nucleotide bindingi265 – 2684GTPBy similarity

GO - Molecular functioni

  1. acyl binding Source: UniProtKB
  2. GDP binding Source: UniProtKB
  3. G-protein beta/gamma-subunit complex binding Source: GO_Central
  4. G-protein coupled receptor binding Source: GO_Central
  5. GTPase activity Source: UniProtKB
  6. GTP binding Source: UniProtKB
  7. metal ion binding Source: UniProtKB-KW
  8. protein kinase binding Source: UniProtKB
  9. signal transducer activity Source: GO_Central

GO - Biological processi

  1. adenylate cyclase-modulating G-protein coupled receptor signaling pathway Source: GO_Central
  2. cell proliferation Source: Ensembl
  3. cellular response to electrical stimulus Source: Ensembl
  4. detection of chemical stimulus involved in sensory perception of bitter taste Source: Ensembl
  5. detection of light stimulus involved in visual perception Source: UniProtKB
  6. eye photoreceptor cell development Source: Ensembl
  7. metabolic process Source: GOC
  8. negative regulation of cyclic-nucleotide phosphodiesterase activity Source: UniProtKB
  9. phototransduction, visible light Source: UniProtKB
  10. positive regulation of cyclic-nucleotide phosphodiesterase activity Source: Ensembl
  11. regulation of rhodopsin mediated signaling pathway Source: Reactome
  12. response to light intensity Source: Ensembl
  13. response to light stimulus Source: UniProtKB
  14. retina development in camera-type eye Source: Ensembl
  15. rhodopsin mediated signaling pathway Source: Reactome
  16. sensory perception of umami taste Source: GO_Central
  17. signal transduction Source: UniProtKB
  18. visual perception Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Transducer

Keywords - Biological processi

Sensory transduction, Vision

Keywords - Ligandi

GTP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_15426. PLC beta mediated events.
REACT_15457. G-protein activation.
REACT_163919. Inactivation, recovery and regulation of the phototransduction cascade.
REACT_163932. Activation of the phototransduction cascade.
REACT_19231. G alpha (i) signalling events.

Names & Taxonomyi

Protein namesi
Recommended name:
Guanine nucleotide-binding protein G(t) subunit alpha-1
Alternative name(s):
Transducin alpha-1 chain
Gene namesi
Name:GNAT1
Synonyms:GNATR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:4393. GNAT1.

Subcellular locationi

GO - Cellular componenti

  1. apical plasma membrane Source: Ensembl
  2. cytosol Source: Reactome
  3. heterotrimeric G-protein complex Source: GO_Central
  4. membrane Source: UniProtKB
  5. neuronal cell body Source: Ensembl
  6. photoreceptor connecting cilium Source: Ensembl
  7. photoreceptor disc membrane Source: Reactome
  8. photoreceptor inner segment Source: UniProtKB
  9. photoreceptor outer segment Source: UniProtKB
  10. photoreceptor outer segment membrane Source: UniProtKB
  11. plasma membrane Source: Reactome
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Night blindness, congenital stationary, autosomal dominant 3 (CSNBAD3)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.

See also OMIM:610444
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti38 – 381G → D in CSNBAD3; in the Nougaret family descendants. 1 Publication
VAR_009279

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi2 – 21G → A: Abolishes myristoylation, interaction with UNC119 and localization. 1 Publication

Keywords - Diseasei

Congenital stationary night blindness, Disease mutation

Organism-specific databases

MIMi610444. phenotype.
Orphaneti215. Congenital stationary night blindness.
PharmGKBiPA28773.

Polymorphism and mutation databases

BioMutaiGNAT1.
DMDMi121032.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed
Chaini2 – 350349Guanine nucleotide-binding protein G(t) subunit alpha-1PRO_0000203737Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Lipidationi2 – 21N-myristoyl glycine1 Publication
Modified residuei142 – 1421Phosphotyrosine; by SRC1 Publication
Modified residuei174 – 1741ADP-ribosylarginine; by cholera toxinBy similarity
Modified residuei347 – 3471ADP-ribosylcysteine; by pertussis toxinBy similarity

Keywords - PTMi

ADP-ribosylation, Lipoprotein, Myristate, Phosphoprotein

Proteomic databases

PaxDbiP11488.
PRIDEiP11488.

PTM databases

PhosphoSiteiP11488.

Expressioni

Tissue specificityi

Rod.

Gene expression databases

BgeeiP11488.
CleanExiHS_GNAT1.
ExpressionAtlasiP11488. baseline and differential.
GenevestigatoriP11488.

Interactioni

Subunit structurei

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.1 Publication

Protein-protein interaction databases

BioGridi109041. 2 interactions.
IntActiP11488. 5 interactions.
MINTiMINT-4774086.
STRINGi9606.ENSP00000232461.

Structurei

Secondary structure

1
350
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Turni3 – 75Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3RBQX-ray2.00G/H/I/J/K/L2-11[»]
ProteinModelPortaliP11488.
SMRiP11488. Positions 27-344.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiNOG322962.
GeneTreeiENSGT00760000118851.
HOGENOMiHOG000038730.
HOVERGENiHBG063184.
InParanoidiP11488.
KOiK04631.
OMAiMHLADTI.
OrthoDBiEOG72C50B.
PhylomeDBiP11488.
TreeFamiTF300673.

Family and domain databases

Gene3Di1.10.400.10. 1 hit.
3.40.50.300. 2 hits.
InterProiIPR001408. Gprotein_alpha_I.
IPR001019. Gprotein_alpha_su.
IPR011025. GproteinA_insert.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR10218. PTHR10218. 1 hit.
PfamiPF00503. G-alpha. 1 hit.
[Graphical view]
PRINTSiPR00318. GPROTEINA.
PR00441. GPROTEINAI.
SMARTiSM00275. G_alpha. 1 hit.
[Graphical view]
SUPFAMiSSF47895. SSF47895. 1 hit.
SSF52540. SSF52540. 2 hits.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P11488-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGAGASAEEK HSRELEKKLK EDAEKDARTV KLLLLGAGES GKSTIVKQMK
60 70 80 90 100
IIHQDGYSLE ECLEFIAIIY GNTLQSILAI VRAMTTLNIQ YGDSARQDDA
110 120 130 140 150
RKLMHMADTI EEGTMPKEMS DIIQRLWKDS GIQACFERAS EYQLNDSAGY
160 170 180 190 200
YLSDLERLVT PGYVPTEQDV LRSRVKTTGI IETQFSFKDL NFRMFDVGGQ
210 220 230 240 250
RSERKKWIHC FEGVTCIIFI AALSAYDMVL VEDDEVNRMH ESLHLFNSIC
260 270 280 290 300
NHRYFATTSI VLFLNKKDVF FEKIKKAHLS ICFPDYDGPN TYEDAGNYIK
310 320 330 340 350
VQFLELNMRR DVKEIYSHMT CATDTQNVKF VFDAVTDIII KENLKDCGLF
Length:350
Mass (Da):40,041
Last modified:January 23, 2007 - v5
Checksum:iD901013CFF5B0C7F
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti204 – 2041R → P in CAA33196 (PubMed:2748346).Curated
Sequence conflicti224 – 2241S → T in CAA33196 (PubMed:2748346).Curated
Sequence conflicti274 – 2741I → V in CAA33196 (PubMed:2748346).Curated
Sequence conflicti331 – 3311V → C in CAA33196 (PubMed:2748346).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti38 – 381G → D in CSNBAD3; in the Nougaret family descendants. 1 Publication
VAR_009279

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS2812.1.
PIRiS22953. RGHUT1.
RefSeqiNP_000163.2. NM_000172.3.
NP_653082.1. NM_144499.2.
UniGeneiHs.517978.

Genome annotation databases

EnsembliENST00000232461; ENSP00000232461; ENSG00000114349.
ENST00000433068; ENSP00000387555; ENSG00000114349.
GeneIDi2779.
KEGGihsa:2779.
UCSCiuc003cyl.2. human.

Polymorphism and mutation databases

BioMutaiGNAT1.

Cross-referencesi

Web resourcesi

Mutations of the GNAT1 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS2812.1.
PIRiS22953. RGHUT1.
RefSeqiNP_000163.2. NM_000172.3.
NP_653082.1. NM_144499.2.
UniGeneiHs.517978.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3RBQX-ray2.00G/H/I/J/K/L2-11[»]
ProteinModelPortaliP11488.
SMRiP11488. Positions 27-344.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109041. 2 interactions.
IntActiP11488. 5 interactions.
MINTiMINT-4774086.
STRINGi9606.ENSP00000232461.

PTM databases

PhosphoSiteiP11488.

Polymorphism and mutation databases

BioMutaiGNAT1.
DMDMi121032.

Proteomic databases

PaxDbiP11488.
PRIDEiP11488.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000232461; ENSP00000232461; ENSG00000114349.
ENST00000433068; ENSP00000387555; ENSG00000114349.
GeneIDi2779.
KEGGihsa:2779.
UCSCiuc003cyl.2. human.

Organism-specific databases

CTDi2779.
GeneCardsiGC03P050229.
HGNCiHGNC:4393. GNAT1.
MIMi139330. gene.
610444. phenotype.
neXtProtiNX_P11488.
Orphaneti215. Congenital stationary night blindness.
PharmGKBiPA28773.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG322962.
GeneTreeiENSGT00760000118851.
HOGENOMiHOG000038730.
HOVERGENiHBG063184.
InParanoidiP11488.
KOiK04631.
OMAiMHLADTI.
OrthoDBiEOG72C50B.
PhylomeDBiP11488.
TreeFamiTF300673.

Enzyme and pathway databases

ReactomeiREACT_15426. PLC beta mediated events.
REACT_15457. G-protein activation.
REACT_163919. Inactivation, recovery and regulation of the phototransduction cascade.
REACT_163932. Activation of the phototransduction cascade.
REACT_19231. G alpha (i) signalling events.

Miscellaneous databases

GeneWikiiGNAT1.
GenomeRNAii2779.
NextBioi10945.
PROiP11488.
SOURCEiSearch...

Gene expression databases

BgeeiP11488.
CleanExiHS_GNAT1.
ExpressionAtlasiP11488. baseline and differential.
GenevestigatoriP11488.

Family and domain databases

Gene3Di1.10.400.10. 1 hit.
3.40.50.300. 2 hits.
InterProiIPR001408. Gprotein_alpha_I.
IPR001019. Gprotein_alpha_su.
IPR011025. GproteinA_insert.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR10218. PTHR10218. 1 hit.
PfamiPF00503. G-alpha. 1 hit.
[Graphical view]
PRINTSiPR00318. GPROTEINA.
PR00441. GPROTEINAI.
SMARTiSM00275. G_alpha. 1 hit.
[Graphical view]
SUPFAMiSSF47895. SSF47895. 1 hit.
SSF52540. SSF52540. 2 hits.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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.

Entry informationi

Entry nameiGNAT1_HUMAN
AccessioniPrimary (citable) accession number: P11488
Secondary accession number(s): Q4VBN2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: January 23, 2007
Last modified: April 29, 2015
This is version 163 of the entry and version 5 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.