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P11488

- GNAT1_HUMAN

UniProt

P11488 - GNAT1_HUMAN

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Protein

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

Gene

GNAT1

Organism
Homo sapiens (Human)
Status
Reviewed - 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: RefGenome
  4. G-protein coupled receptor binding Source: RefGenome
  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: RefGenome

GO - Biological processi

  1. adenylate cyclase-modulating G-protein coupled receptor signaling pathway Source: RefGenome
  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. negative regulation of cyclic-nucleotide phosphodiesterase activity Source: UniProtKB
  8. phototransduction, visible light Source: UniProtKB
  9. positive regulation of cyclic-nucleotide phosphodiesterase activity Source: Ensembl
  10. regulation of rhodopsin mediated signaling pathway Source: Reactome
  11. response to light intensity Source: Ensembl
  12. response to light stimulus Source: UniProtKB
  13. retina development in camera-type eye Source: Ensembl
  14. rhodopsin mediated signaling pathway Source: Reactome
  15. sensory perception of umami taste Source: RefGenome
  16. signal transduction Source: UniProtKB
  17. 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: 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: RefGenome
  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) [MIM:610444]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
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.

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 – 75

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
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:
EMBL
GenBank
DDBJ
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 databases

DMDMi121032.

Cross-referencesi

Web resourcesi

Mutations of the GNAT1 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS2812.1.
PIRi S22953. RGHUT1.
RefSeqi NP_000163.2. NM_000172.3.
NP_653082.1. NM_144499.2.
UniGenei Hs.517978.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3RBQ X-ray 2.00 G/H/I/J/K/L 2-11 [» ]
ProteinModelPortali P11488.
SMRi P11488. Positions 27-344.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109041. 2 interactions.
IntActi P11488. 5 interactions.
MINTi MINT-4774086.
STRINGi 9606.ENSP00000232461.

PTM databases

PhosphoSitei P11488.

Polymorphism databases

DMDMi 121032.

Proteomic databases

PaxDbi P11488.
PRIDEi P11488.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000232461 ; ENSP00000232461 ; ENSG00000114349 .
ENST00000433068 ; ENSP00000387555 ; ENSG00000114349 .
GeneIDi 2779.
KEGGi hsa:2779.
UCSCi uc003cyl.2. human.

Organism-specific databases

CTDi 2779.
GeneCardsi GC03P050229.
HGNCi HGNC:4393. GNAT1.
MIMi 139330. gene.
610444. phenotype.
neXtProti NX_P11488.
Orphaneti 215. Congenital stationary night blindness.
PharmGKBi PA28773.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG322962.
GeneTreei ENSGT00760000118851.
HOGENOMi HOG000038730.
HOVERGENi HBG063184.
InParanoidi P11488.
KOi K04631.
OMAi MHLADTI.
OrthoDBi EOG72C50B.
PhylomeDBi P11488.
TreeFami TF300673.

Enzyme and pathway databases

Reactomei REACT_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

GeneWikii GNAT1.
GenomeRNAii 2779.
NextBioi 10945.
PROi P11488.
SOURCEi Search...

Gene expression databases

Bgeei P11488.
CleanExi HS_GNAT1.
ExpressionAtlasi P11488. baseline and differential.
Genevestigatori P11488.

Family and domain databases

Gene3Di 1.10.400.10. 1 hit.
3.40.50.300. 2 hits.
InterProi IPR001408. Gprotein_alpha_I.
IPR001019. Gprotein_alpha_su.
IPR011025. GproteinA_insert.
IPR027417. P-loop_NTPase.
[Graphical view ]
PANTHERi PTHR10218. PTHR10218. 1 hit.
Pfami PF00503. G-alpha. 1 hit.
[Graphical view ]
PRINTSi PR00318. GPROTEINA.
PR00441. GPROTEINAI.
SMARTi SM00275. G_alpha. 1 hit.
[Graphical view ]
SUPFAMi SSF47895. SSF47895. 1 hit.
SSF52540. SSF52540. 2 hits.
ProtoNeti Search...

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: October 29, 2014
This is version 157 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