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P11488

- GNAT1_HUMAN

UniProt

P11488 - GNAT1_HUMAN

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
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    • History
      Entry version 156 (01 Oct 2014)
      Sequence version 5 (23 Jan 2007)
      Previous versions | rss
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    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

    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

    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

    ArrayExpressiP11488.
    BgeeiP11488.
    CleanExiHS_GNAT1.
    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.
    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

    MGAGASAEEK HSRELEKKLK EDAEKDARTV KLLLLGAGES GKSTIVKQMK    50
    IIHQDGYSLE ECLEFIAIIY GNTLQSILAI VRAMTTLNIQ YGDSARQDDA 100
    RKLMHMADTI EEGTMPKEMS DIIQRLWKDS GIQACFERAS EYQLNDSAGY 150
    YLSDLERLVT PGYVPTEQDV LRSRVKTTGI IETQFSFKDL NFRMFDVGGQ 200
    RSERKKWIHC FEGVTCIIFI AALSAYDMVL VEDDEVNRMH ESLHLFNSIC 250
    NHRYFATTSI VLFLNKKDVF FEKIKKAHLS ICFPDYDGPN TYEDAGNYIK 300
    VQFLELNMRR DVKEIYSHMT CATDTQNVKF VFDAVTDIII KENLKDCGLF 350
    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.
    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

    ArrayExpressi P11488.
    Bgeei P11488.
    CleanExi HS_GNAT1.
    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

    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 1, 2014
    This is version 156 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