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P19087

- GNAT2_HUMAN

UniProt

P19087 - GNAT2_HUMAN

Protein

Guanine nucleotide-binding protein G(t) subunit alpha-2

Gene

GNAT2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 161 (01 Oct 2014)
      Sequence version 4 (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 bindingi47 – 471MagnesiumBy similarity
    Metal bindingi181 – 1811MagnesiumBy similarity
    Binding sitei326 – 3261GTP; via amide nitrogenBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi40 – 478GTPBy similarity
    Nucleotide bindingi175 – 1817GTPBy similarity
    Nucleotide bindingi200 – 2045GTPBy similarity
    Nucleotide bindingi269 – 2724GTPBy similarity

    GO - Molecular functioni

    1. G-protein beta/gamma-subunit complex binding Source: RefGenome
    2. G-protein coupled photoreceptor activity Source: UniProtKB
    3. G-protein coupled receptor binding Source: RefGenome
    4. GTPase activity Source: RefGenome
    5. GTP binding Source: UniProtKB
    6. metal ion binding Source: UniProtKB-KW

    GO - Biological processi

    1. adenylate cyclase-modulating G-protein coupled receptor signaling pathway Source: RefGenome
    2. detection of chemical stimulus involved in sensory perception of bitter taste Source: RefGenome
    3. detection of light stimulus involved in visual perception Source: UniProtKB
    4. G-protein coupled receptor signaling pathway Source: UniProtKB
    5. phototransduction Source: UniProtKB
    6. positive regulation of cytosolic calcium ion concentration Source: Ensembl
    7. response to light intensity Source: Ensembl
    8. retinal cone cell development Source: Ensembl
    9. 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_172761. Ca2+ pathway.
    REACT_19231. G alpha (i) signalling events.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Guanine nucleotide-binding protein G(t) subunit alpha-2
    Alternative name(s):
    Transducin alpha-2 chain
    Gene namesi
    Name:GNAT2
    Synonyms:GNATC
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:4394. GNAT2.

    Subcellular locationi

    GO - Cellular componenti

    1. heterotrimeric G-protein complex Source: UniProtKB
    2. photoreceptor inner segment Source: UniProtKB
    3. photoreceptor outer segment Source: UniProtKB
    4. photoreceptor outer segment membrane Source: UniProtKB
    5. plasma membrane Source: Reactome

    Pathology & Biotechi

    Involvement in diseasei

    Achromatopsia 4 (ACHM4) [MIM:613856]: An ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus.
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi613856. phenotype.
    Orphaneti49382. Achromatopsia.
    1871. Progressive cone dystrophy.
    PharmGKBiPA28774.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11RemovedBy similarity
    Chaini2 – 354353Guanine nucleotide-binding protein G(t) subunit alpha-2PRO_0000203740Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Lipidationi2 – 21N-myristoyl glycineBy similarity
    Modified residuei178 – 1781ADP-ribosylarginine; by cholera toxinBy similarity
    Modified residuei351 – 3511ADP-ribosylcysteine; by pertussis toxinBy similarity

    Keywords - PTMi

    ADP-ribosylation, Lipoprotein, Myristate

    Proteomic databases

    PaxDbiP19087.
    PRIDEiP19087.

    PTM databases

    PhosphoSiteiP19087.

    Expressioni

    Tissue specificityi

    Retinal rod outer segment.

    Gene expression databases

    ArrayExpressiP19087.
    BgeeiP19087.
    CleanExiHS_GNAT2.
    GenevestigatoriP19087.

    Organism-specific databases

    HPAiCAB031479.

    Interactioni

    Subunit structurei

    G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site.

    Protein-protein interaction databases

    BioGridi109042. 5 interactions.
    IntActiP19087. 1 interaction.
    STRINGi9606.ENSP00000251337.

    Structurei

    3D structure databases

    ProteinModelPortaliP19087.
    SMRiP19087. Positions 14-354.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG322962.
    HOGENOMiHOG000038730.
    HOVERGENiHBG063184.
    InParanoidiP19087.
    KOiK04631.
    OMAiYGNILQS.
    OrthoDBiEOG72C50B.
    PhylomeDBiP19087.
    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.

    P19087-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGSGASAEDK ELAKRSKELE KKLQEDADKE AKTVKLLLLG AGESGKSTIV    50
    KQMKIIHQDG YSPEECLEFK AIIYGNVLQS ILAIIRAMTT LGIDYAEPSC 100
    ADDGRQLNNL ADSIEEGTMP PELVEVIRRL WKDGGVQACF ERAAEYQLND 150
    SASYYLNQLE RITDPEYLPS EQDVLRSRVK TTGIIETKFS VKDLNFRMFD 200
    VGGQRSERKK WIHCFEGVTC IIFCAALSAY DMVLVEDDEV NRMHESLHLF 250
    NSICNHKFFA ATSIVLFLNK KDLFEEKIKK VHLSICFPEY DGNNSYDDAG 300
    NYIKSQFLDL NMRKDVKEIY SHMTCATDTQ NVKFVFDAVT DIIIKENLKD 350
    CGLF 354
    Length:354
    Mass (Da):40,176
    Last modified:January 23, 2007 - v4
    Checksum:iBFF8D50C024F18DA
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti106 – 1072QL → HV(PubMed:2534964)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti107 – 1071L → I.1 Publication
    Corresponds to variant rs3738766 [ dbSNP | Ensembl ].
    VAR_047623
    Natural varianti124 – 1241V → M.1 Publication
    Corresponds to variant rs41280330 [ dbSNP | Ensembl ].
    VAR_047624
    Natural varianti183 – 1831G → D.
    Corresponds to variant rs1799940 [ dbSNP | Ensembl ].
    VAR_014783

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D10384 Genomic DNA. Translation: BAA01211.1.
    Z18859 Genomic DNA. Translation: CAA79310.1.
    AF493909 mRNA. Translation: AAM12623.1.
    BC000233 mRNA. Translation: AAH00233.1.
    CCDSiCCDS803.1.
    PIRiA47219. RGHUT2.
    RefSeqiNP_005263.1. NM_005272.3.
    UniGeneiHs.36973.

    Genome annotation databases

    EnsembliENST00000351050; ENSP00000251337; ENSG00000134183.
    GeneIDi2780.
    KEGGihsa:2780.
    UCSCiuc001dya.3. human.

    Polymorphism databases

    DMDMi232151.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D10384 Genomic DNA. Translation: BAA01211.1 .
    Z18859 Genomic DNA. Translation: CAA79310.1 .
    AF493909 mRNA. Translation: AAM12623.1 .
    BC000233 mRNA. Translation: AAH00233.1 .
    CCDSi CCDS803.1.
    PIRi A47219. RGHUT2.
    RefSeqi NP_005263.1. NM_005272.3.
    UniGenei Hs.36973.

    3D structure databases

    ProteinModelPortali P19087.
    SMRi P19087. Positions 14-354.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109042. 5 interactions.
    IntActi P19087. 1 interaction.
    STRINGi 9606.ENSP00000251337.

    PTM databases

    PhosphoSitei P19087.

    Polymorphism databases

    DMDMi 232151.

    Proteomic databases

    PaxDbi P19087.
    PRIDEi P19087.

    Protocols and materials databases

    DNASUi 2780.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000351050 ; ENSP00000251337 ; ENSG00000134183 .
    GeneIDi 2780.
    KEGGi hsa:2780.
    UCSCi uc001dya.3. human.

    Organism-specific databases

    CTDi 2780.
    GeneCardsi GC01M110145.
    GeneReviewsi GNAT2.
    HGNCi HGNC:4394. GNAT2.
    HPAi CAB031479.
    MIMi 139340. gene.
    613856. phenotype.
    neXtProti NX_P19087.
    Orphaneti 49382. Achromatopsia.
    1871. Progressive cone dystrophy.
    PharmGKBi PA28774.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG322962.
    HOGENOMi HOG000038730.
    HOVERGENi HBG063184.
    InParanoidi P19087.
    KOi K04631.
    OMAi YGNILQS.
    OrthoDBi EOG72C50B.
    PhylomeDBi P19087.
    TreeFami TF300673.

    Enzyme and pathway databases

    Reactomei REACT_15426. PLC beta mediated events.
    REACT_15457. G-protein activation.
    REACT_172761. Ca2+ pathway.
    REACT_19231. G alpha (i) signalling events.

    Miscellaneous databases

    GeneWikii GNAT2.
    GenomeRNAii 2780.
    NextBioi 10951.
    PROi P19087.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P19087.
    Bgeei P19087.
    CleanExi HS_GNAT2.
    Genevestigatori P19087.

    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. "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.
    2. "Molecular cloning and sequence analysis of cDNA and genomic DNA for the human cone transducin alpha subunit."
      Kubo M., Hirano T., Kakinuma M.
      FEBS Lett. 291:245-248(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
    3. "Characterization of the gene encoding human cone transducin alpha-subunit (GNAT2)."
      Morris A.T., Fong S.
      Genomics 17:442-448(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    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 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].
      Tissue: Eye.
    6. "Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia."
      Kohl S., Baumann B., Rosenberg T., Kellner U., Lorenz B., Vadala M., Jacobson S.G., Wissinger B.
      Am. J. Hum. Genet. 71:422-425(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN ACHROMATOPSIA TYPE 4.
    7. "Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases."
      Nishiguchi K.M., Sandberg M.A., Gorji N., Berson E.L., Dryja T.P.
      Hum. Mutat. 25:248-258(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ILE-107 AND MET-124.

    Entry informationi

    Entry nameiGNAT2_HUMAN
    AccessioniPrimary (citable) accession number: P19087
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1990
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 161 of the entry and version 4 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3