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Protein

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

Gene

GNAT1

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

Functioni

Functions as signal transducer for the rod photoreceptor RHO. Required for normal RHO-mediated light perception by the retina (PubMed:22190596). Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs), such as the photoreceptor RHO. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Activated RHO promotes GDP release and GTP binding. Signaling is mediated via downstream effector proteins, such as cGMP-phosphodiesterase (By similarity).By similarity1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi43MagnesiumBy similarity1
Binding sitei146GTPBy similarity1
Metal bindingi177MagnesiumBy similarity1
Binding sitei199GTP; via amide nitrogenBy similarity1
Binding sitei322GTP; via amide nitrogenBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi36 – 43GTPBy similarity8
Nucleotide bindingi171 – 177GTPBy similarity7
Nucleotide bindingi265 – 268GTPBy similarity4

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionTransducer
Biological processSensory transduction, Vision
LigandGTP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-112043 PLC beta mediated events
R-HSA-202040 G-protein activation
R-HSA-2485179 Activation of the phototransduction cascade
R-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade
R-HSA-418594 G alpha (i) signalling events
R-HSA-6814122 Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
SIGNORiP11488

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
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000114349.9
HGNCiHGNC:4393 GNAT1
MIMi139330 gene
neXtProtiNX_P11488

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Membrane

Pathology & Biotechi

Involvement in diseasei

Night blindness, congenital stationary, autosomal dominant 3 (CSNBAD3)2 Publications
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_00927938G → D in CSNBAD3. 1 PublicationCorresponds to variant dbSNP:rs104893740EnsemblClinVar.1
Natural variantiVAR_073799200Q → E in CSNBAD3. 1 PublicationCorresponds to variant dbSNP:rs786205853EnsemblClinVar.1
Night blindness, congenital stationary, 1G (CSNB1G)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days.
See also OMIM:616389
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073798129D → G in CSNB1G. 1 PublicationCorresponds to variant dbSNP:rs786205854EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi2G → A: Abolishes myristoylation, interaction with UNC119 and localization. 1 Publication1

Keywords - Diseasei

Congenital stationary night blindness, Disease mutation

Organism-specific databases

DisGeNETi2779
MalaCardsiGNAT1
MIMi610444 phenotype
616389 phenotype
OpenTargetsiENSG00000114349
Orphaneti215 Congenital stationary night blindness
PharmGKBiPA28773

Chemistry databases

DrugBankiDB04315 Guanosine-5'-Diphosphate
DB02994 Hydroxydimethylarsine Oxide
DB04444 Tetrafluoroaluminate Ion

Polymorphism and mutation databases

BioMutaiGNAT1
DMDMi121032

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved
ChainiPRO_00002037372 – 350Guanine nucleotide-binding protein G(t) subunit alpha-1Add BLAST349

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi2N-myristoyl glycine1 Publication1
Modified residuei142Phosphotyrosine; by SRC1 Publication1
Modified residuei174ADP-ribosylarginine; by cholera toxinBy similarity1
Modified residuei347ADP-ribosylcysteine; by pertussis toxinBy similarity1

Keywords - PTMi

ADP-ribosylation, Lipoprotein, Myristate, Phosphoprotein

Proteomic databases

EPDiP11488
MaxQBiP11488
PaxDbiP11488
PeptideAtlasiP11488
PRIDEiP11488

PTM databases

iPTMnetiP11488
PhosphoSitePlusiP11488
SwissPalmiP11488

Expressioni

Tissue specificityi

Rod photoreceptor cells (PubMed:1614872). Predominantly expressed in the retina followed by the ciliary body, iris and retinal pigment epithelium (PubMed:22190596).2 Publications

Developmental stagei

First detected at low levels at approximately postnatal day 7. Subsequently, expression increases rapidly during the first month after birth.1 Publication

Gene expression databases

BgeeiENSG00000114349
CleanExiHS_GNAT1
ExpressionAtlasiP11488 baseline and differential
GenevisibleiP11488 HS

Organism-specific databases

HPAiHPA045393

Interactioni

Subunit structurei

Heterotrimeric G proteins are composed of 3 subunits alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site. Interacts with RHO. Interacts with RGS9 and PDE6G (By similarity). Interacts (when myristoylated) with UNC119; interaction is required for localization in sensory neurons (PubMed:21642972).By similarity1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi109041, 3 interactors
IntActiP11488, 5 interactors
MINTiP11488
STRINGi9606.ENSP00000232461

Structurei

Secondary structure

1350
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni3 – 7Combined sources5

3D structure databases

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

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni340 – 350Interaction with RHOBy similarityAdd BLAST11

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiKOG0082 Eukaryota
ENOG410XNVQ LUCA
GeneTreeiENSGT00760000118851
HOGENOMiHOG000038730
HOVERGENiHBG063184
InParanoidiP11488
KOiK04631
OMAiMHLADTI
OrthoDBiEOG091G0VUT
PhylomeDBiP11488
TreeFamiTF300673

Family and domain databases

CDDicd00066 G-alpha, 1 hit
Gene3Di1.10.400.10, 1 hit
InterProiView protein in InterPro
IPR001408 Gprotein_alpha_I
IPR001019 Gprotein_alpha_su
IPR011025 GproteinA_insert
IPR027417 P-loop_NTPase
PANTHERiPTHR10218 PTHR10218, 1 hit
PfamiView protein in Pfam
PF00503 G-alpha, 1 hit
PRINTSiPR00318 GPROTEINA
PR00441 GPROTEINAI
SMARTiView protein in SMART
SM00275 G_alpha, 1 hit
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)DescriptionActionsGraphical viewLength
Sequence conflicti204R → P in CAA33196 (PubMed:2748346).Curated1
Sequence conflicti224S → T in CAA33196 (PubMed:2748346).Curated1
Sequence conflicti274I → V in CAA33196 (PubMed:2748346).Curated1
Sequence conflicti331V → C in CAA33196 (PubMed:2748346).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00927938G → D in CSNBAD3. 1 PublicationCorresponds to variant dbSNP:rs104893740EnsemblClinVar.1
Natural variantiVAR_073798129D → G in CSNB1G. 1 PublicationCorresponds to variant dbSNP:rs786205854EnsemblClinVar.1
Natural variantiVAR_073799200Q → E in CSNBAD3. 1 PublicationCorresponds to variant dbSNP:rs786205853EnsemblClinVar.1

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.3 human

Similar proteinsi

Entry informationi

Entry nameiGNAT1_HUMAN
AccessioniPrimary (citable) accession number: P11488
Secondary accession number(s): Q4VBN2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: January 23, 2007
Last modified: May 23, 2018
This is version 187 of the entry and version 5 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health