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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

GO - Biological processi

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

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

HGNCiHGNC:4393. GNAT1.

Subcellular locationi

GO - Cellular componenti

  • apical plasma membrane Source: Ensembl
  • cytosol Source: Reactome
  • heterotrimeric G-protein complex Source: GO_Central
  • membrane Source: UniProtKB
  • neuronal cell body Source: Ensembl
  • photoreceptor connecting cilium Source: Ensembl
  • photoreceptor disc membrane Source: Reactome
  • photoreceptor inner segment Source: UniProtKB
  • photoreceptor outer segment Source: UniProtKB
  • photoreceptor outer segment membrane Source: UniProtKB
  • plasma membrane Source: Reactome
Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti38 – 381G → D in CSNBAD3. 1 Publication
Corresponds to variant rs104893740 [ dbSNP | Ensembl ].
VAR_009279
Natural varianti200 – 2001Q → E in CSNBAD3. 1 Publication
Corresponds to variant rs786205853 [ dbSNP | Ensembl ].
VAR_073799
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti129 – 1291D → G in CSNB1G. 1 Publication
Corresponds to variant rs786205854 [ dbSNP | Ensembl ].
VAR_073798

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

MalaCardsiGNAT1.
MIMi610444. phenotype.
616389. phenotype.
Orphaneti215. Congenital stationary night blindness.
PharmGKBiPA28773.

Polymorphism and mutation databases

BioMutaiGNAT1.
DMDMi121032.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemoved
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

EPDiP11488.
PaxDbiP11488.
PeptideAtlasiP11488.
PRIDEiP11488.

PTM databases

iPTMnetiP11488.
PhosphoSiteiP11488.
SwissPalmiP11488.

Expressioni

Tissue specificityi

Rod. Predominantly expressed in the retina followed by the ciliary body, iris and retinal pigment epithelium.1 Publication

Developmental stagei

Expressed at approximately postnatal day 7.1 Publication

Gene expression databases

BgeeiENSG00000114349.
CleanExiHS_GNAT1.
ExpressionAtlasiP11488. baseline and differential.
GenevisibleiP11488. HS.

Organism-specific databases

HPAiCAB005023.

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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi109041. 3 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

eggNOGiKOG0082. Eukaryota.
ENOG410XNVQ. LUCA.
GeneTreeiENSGT00760000118851.
HOGENOMiHOG000038730.
HOVERGENiHBG063184.
InParanoidiP11488.
KOiK04631.
OMAiECLEFIV.
OrthoDBiEOG091G0VUT.
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. 1 Publication
Corresponds to variant rs104893740 [ dbSNP | Ensembl ].
VAR_009279
Natural varianti129 – 1291D → G in CSNB1G. 1 Publication
Corresponds to variant rs786205854 [ dbSNP | Ensembl ].
VAR_073798
Natural varianti200 – 2001Q → E in CSNBAD3. 1 Publication
Corresponds to variant rs786205853 [ dbSNP | Ensembl ].
VAR_073799

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.

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. 3 interactions.
IntActiP11488. 5 interactions.
MINTiMINT-4774086.
STRINGi9606.ENSP00000232461.

PTM databases

iPTMnetiP11488.
PhosphoSiteiP11488.
SwissPalmiP11488.

Polymorphism and mutation databases

BioMutaiGNAT1.
DMDMi121032.

Proteomic databases

EPDiP11488.
PaxDbiP11488.
PeptideAtlasiP11488.
PRIDEiP11488.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000232461; ENSP00000232461; ENSG00000114349.
ENST00000433068; ENSP00000387555; ENSG00000114349.
GeneIDi2779.
KEGGihsa:2779.
UCSCiuc003cyl.3. human.

Organism-specific databases

CTDi2779.
GeneCardsiGNAT1.
HGNCiHGNC:4393. GNAT1.
HPAiCAB005023.
MalaCardsiGNAT1.
MIMi139330. gene.
610444. phenotype.
616389. phenotype.
neXtProtiNX_P11488.
Orphaneti215. Congenital stationary night blindness.
PharmGKBiPA28773.
GenAtlasiSearch...

Phylogenomic databases

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

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.

Miscellaneous databases

GeneWikiiGNAT1.
GenomeRNAii2779.
PROiP11488.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000114349.
CleanExiHS_GNAT1.
ExpressionAtlasiP11488. baseline and differential.
GenevisibleiP11488. HS.

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...

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: September 7, 2016
This is version 174 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

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 one 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.