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P38405

- GNAL_HUMAN

UniProt

P38405 - GNAL_HUMAN

Protein

Guanine nucleotide-binding protein G(olf) subunit alpha

Gene

GNAL

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 137 (01 Oct 2014)
      Sequence version 1 (01 Oct 1994)
      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. G(olf) alpha mediates signal transduction within the olfactory neuroepithelium and the basal ganglia. May be involved in some aspect of visual transduction, and in mediating the effect of one or more hormones/neurotransmitters.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi56 – 561MagnesiumBy similarity
    Metal bindingi191 – 1911MagnesiumBy similarity
    Binding sitei353 – 3531GTP; via amide nitrogenBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi49 – 568GTPBy similarity
    Nucleotide bindingi185 – 1917GTPBy similarity
    Nucleotide bindingi210 – 2145GTPBy similarity
    Nucleotide bindingi279 – 2824GTPBy similarity

    GO - Molecular functioni

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

    GO - Biological processi

    1. activation of adenylate cyclase activity Source: Ensembl
    2. adenylate cyclase-activating dopamine receptor signaling pathway Source: RefGenome
    3. adenylate cyclase-activating G-protein coupled receptor signaling pathway Source: Reactome
    4. adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway Source: Reactome
    5. response to amphetamine Source: Ensembl
    6. response to caffeine Source: Ensembl
    7. sensory perception of smell Source: RefGenome
    8. signal transduction Source: ProtInc
    9. synaptic transmission Source: Reactome

    Keywords - Molecular functioni

    Transducer

    Keywords - Ligandi

    GTP-binding, Magnesium, Metal-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_15312. Adenylate cyclase activating pathway.
    REACT_15333. Adenylate cyclase inhibitory pathway.
    REACT_15488. Olfactory Signaling Pathway.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Guanine nucleotide-binding protein G(olf) subunit alpha
    Alternative name(s):
    Adenylate cyclase-stimulating G alpha protein, olfactory type
    Gene namesi
    Name:GNAL
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 18

    Organism-specific databases

    HGNCiHGNC:4388. GNAL.

    Subcellular locationi

    GO - Cellular componenti

    1. heterotrimeric G-protein complex Source: RefGenome
    2. plasma membrane Source: Reactome

    Pathology & Biotechi

    Involvement in diseasei

    Dystonia 25 (DYT25) [MIM:615073]: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT25 is an autosomal dominant neurologic disorder characterized by adult onset of focal dystonia, usually involving the neck. The dystonia most often progresses to involve other regions, particularly the face and laryngeal muscles, and less commonly the trunk and limbs.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti102 – 1043Missing in DYT25.
    VAR_069330
    Natural varianti137 – 1371V → M in DYT25; loss of function mutation. 1 Publication
    VAR_069331
    Natural varianti155 – 1551E → K in DYT25; loss of function mutation. 1 Publication
    VAR_069332

    Keywords - Diseasei

    Disease mutation, Dystonia

    Organism-specific databases

    MIMi615073. phenotype.
    Orphaneti329466. Autosomal dominant focal dystonia, DYT25.
    PharmGKBiPA28770.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 381381Guanine nucleotide-binding protein G(olf) subunit alphaPRO_0000203732Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Lipidationi2 – 21N-palmitoyl glycineBy similarity
    Lipidationi3 – 31S-palmitoyl cysteineBy similarity
    Modified residuei188 – 1881ADP-ribosylarginine; by cholera toxinBy similarity

    Keywords - PTMi

    ADP-ribosylation, Lipoprotein, Palmitate

    Proteomic databases

    MaxQBiP38405.
    PaxDbiP38405.
    PRIDEiP38405.

    PTM databases

    PhosphoSiteiP38405.

    Expressioni

    Tissue specificityi

    Detected in olfactory neuroepithelium, brain, testis, and to a lower extent in retina, lung alveoli, spleen. Trace amounts where seen in kidney, adrenal gland and liver. Found to be expressed in all the insulinomas examined.

    Gene expression databases

    ArrayExpressiP38405.
    BgeeiP38405.
    CleanExiHS_GNAL.
    GenevestigatoriP38405.

    Organism-specific databases

    HPAiCAB015464.

    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

    BioGridi109036. 6 interactions.
    IntActiP38405. 9 interactions.
    MINTiMINT-4657066.
    STRINGi9606.ENSP00000334051.

    Structurei

    3D structure databases

    ProteinModelPortaliP38405.
    SMRiP38405. Positions 11-381.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the G-alpha family. G(s) subfamily.Curated

    Phylogenomic databases

    eggNOGiNOG325092.
    HOGENOMiHOG000038729.
    HOVERGENiHBG063184.
    KOiK04633.
    OMAiDYSQEFF.
    OrthoDBiEOG7M3J09.
    PhylomeDBiP38405.
    TreeFamiTF300673.

    Family and domain databases

    Gene3Di1.10.400.10. 1 hit.
    3.40.50.300. 2 hits.
    InterProiIPR000367. Gprotein_alpha_S.
    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.
    PR00443. GPROTEINAS.
    SMARTiSM00275. G_alpha. 1 hit.
    [Graphical view]
    SUPFAMiSSF47895. SSF47895. 1 hit.
    SSF52540. SSF52540. 2 hits.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P38405-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MGCLGGNSKT TEDQGVDEKE RREANKKIEK QLQKERLAYK ATHRLLLLGA    50
    GESGKSTIVK QMRILHVNGF NPEEKKQKIL DIRKNVKDAI VTIVSAMSTI 100
    IPPVPLANPE NQFRSDYIKS IAPITDFEYS QEFFDHVKKL WDDEGVKACF 150
    ERSNEYQLID CAQYFLERID SVSLVDYTPT DQDLLRCRVL TSGIFETRFQ 200
    VDKVNFHMFD VGGQRDERRK WIQCFNDVTA IIYVAACSSY NMVIREDNNT 250
    NRLRESLDLF ESIWNNRWLR TISIILFLNK QDMLAEKVLA GKSKIEDYFP 300
    EYANYTVPED ATPDAGEDPK VTRAKFFIRD LFLRISTATG DGKHYCYPHF 350
    TCAVDTENIR RVFNDCRDII QRMHLKQYEL L 381
    Length:381
    Mass (Da):44,308
    Last modified:October 1, 1994 - v1
    Checksum:i9A73D2982FF9C9A3
    GO
    Isoform 2 (identifier: P38405-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-41: MGCLGGNSKT...LQKERLAYKA → MGLCYSLRPL...LRDQKRDLQQ

    Note: No experimental confirmation available.

    Show »
    Length:458
    Mass (Da):52,455
    Checksum:i89231879924C06A1
    GO
    Isoform 3 (identifier: P38405-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-207: Missing.

    Show »
    Length:174
    Mass (Da):20,522
    Checksum:i62867F7352FAA433
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti16 – 161V → F.1 Publication
    VAR_069329
    Natural varianti102 – 1043Missing in DYT25.
    VAR_069330
    Natural varianti137 – 1371V → M in DYT25; loss of function mutation. 1 Publication
    VAR_069331
    Natural varianti155 – 1551E → K in DYT25; loss of function mutation. 1 Publication
    VAR_069332

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 207207Missing in isoform 3. 1 PublicationVSP_045130Add
    BLAST
    Alternative sequencei1 – 4141MGCLG…LAYKA → MGLCYSLRPLLFGGPGDDPC AASEPPVEDAQPAPAPALAP VRAAARDTARTLLPRGGEGS PACARPKADKPKEKRQRTEQ LSAEEREAAKEREAVKEARK VSRGIDRMLRDQKRDLQQ in isoform 2. 1 PublicationVSP_043050Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L10665 mRNA. Translation: AAC37535.1.
    U55184
    , U55180, U55181, U55182, U55183 Genomic DNA. Translation: AAD00085.1.
    AF493893 mRNA. Translation: AAM12607.1.
    AK316141 mRNA. Translation: BAH14512.1.
    AP001120 Genomic DNA. No translation available.
    AP001269 Genomic DNA. No translation available.
    AP005137 Genomic DNA. No translation available.
    CH471113 Genomic DNA. Translation: EAX01573.1.
    BC050021 mRNA. Translation: AAH50021.1.
    CCDSiCCDS11851.1. [P38405-2]
    CCDS11852.1. [P38405-1]
    CCDS58614.1. [P38405-3]
    PIRiI53271.
    RefSeqiNP_001135811.1. NM_001142339.2. [P38405-1]
    NP_001248372.1. NM_001261443.1. [P38405-1]
    NP_001248373.1. NM_001261444.1. [P38405-3]
    NP_892023.1. NM_182978.3. [P38405-2]
    XP_006722386.1. XM_006722323.1. [P38405-1]
    UniGeneiHs.136295.
    Hs.741448.

    Genome annotation databases

    EnsembliENST00000269162; ENSP00000269162; ENSG00000141404. [P38405-1]
    ENST00000334049; ENSP00000334051; ENSG00000141404. [P38405-2]
    ENST00000423027; ENSP00000408489; ENSG00000141404. [P38405-1]
    ENST00000535121; ENSP00000439023; ENSG00000141404. [P38405-1]
    ENST00000602628; ENSP00000473600; ENSG00000141404. [P38405-3]
    GeneIDi2774.
    KEGGihsa:2774.
    UCSCiuc002kqc.3. human. [P38405-2]
    uc002kqd.3. human. [P38405-1]

    Polymorphism databases

    DMDMi585178.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L10665 mRNA. Translation: AAC37535.1 .
    U55184
    , U55180 , U55181 , U55182 , U55183 Genomic DNA. Translation: AAD00085.1 .
    AF493893 mRNA. Translation: AAM12607.1 .
    AK316141 mRNA. Translation: BAH14512.1 .
    AP001120 Genomic DNA. No translation available.
    AP001269 Genomic DNA. No translation available.
    AP005137 Genomic DNA. No translation available.
    CH471113 Genomic DNA. Translation: EAX01573.1 .
    BC050021 mRNA. Translation: AAH50021.1 .
    CCDSi CCDS11851.1. [P38405-2 ]
    CCDS11852.1. [P38405-1 ]
    CCDS58614.1. [P38405-3 ]
    PIRi I53271.
    RefSeqi NP_001135811.1. NM_001142339.2. [P38405-1 ]
    NP_001248372.1. NM_001261443.1. [P38405-1 ]
    NP_001248373.1. NM_001261444.1. [P38405-3 ]
    NP_892023.1. NM_182978.3. [P38405-2 ]
    XP_006722386.1. XM_006722323.1. [P38405-1 ]
    UniGenei Hs.136295.
    Hs.741448.

    3D structure databases

    ProteinModelPortali P38405.
    SMRi P38405. Positions 11-381.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109036. 6 interactions.
    IntActi P38405. 9 interactions.
    MINTi MINT-4657066.
    STRINGi 9606.ENSP00000334051.

    PTM databases

    PhosphoSitei P38405.

    Polymorphism databases

    DMDMi 585178.

    Proteomic databases

    MaxQBi P38405.
    PaxDbi P38405.
    PRIDEi P38405.

    Protocols and materials databases

    DNASUi 2774.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000269162 ; ENSP00000269162 ; ENSG00000141404 . [P38405-1 ]
    ENST00000334049 ; ENSP00000334051 ; ENSG00000141404 . [P38405-2 ]
    ENST00000423027 ; ENSP00000408489 ; ENSG00000141404 . [P38405-1 ]
    ENST00000535121 ; ENSP00000439023 ; ENSG00000141404 . [P38405-1 ]
    ENST00000602628 ; ENSP00000473600 ; ENSG00000141404 . [P38405-3 ]
    GeneIDi 2774.
    KEGGi hsa:2774.
    UCSCi uc002kqc.3. human. [P38405-2 ]
    uc002kqd.3. human. [P38405-1 ]

    Organism-specific databases

    CTDi 2774.
    GeneCardsi GC18P011925.
    HGNCi HGNC:4388. GNAL.
    HPAi CAB015464.
    MIMi 139312. gene.
    615073. phenotype.
    neXtProti NX_P38405.
    Orphaneti 329466. Autosomal dominant focal dystonia, DYT25.
    PharmGKBi PA28770.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG325092.
    HOGENOMi HOG000038729.
    HOVERGENi HBG063184.
    KOi K04633.
    OMAi DYSQEFF.
    OrthoDBi EOG7M3J09.
    PhylomeDBi P38405.
    TreeFami TF300673.

    Enzyme and pathway databases

    Reactomei REACT_15312. Adenylate cyclase activating pathway.
    REACT_15333. Adenylate cyclase inhibitory pathway.
    REACT_15488. Olfactory Signaling Pathway.

    Miscellaneous databases

    ChiTaRSi GNAL. human.
    GeneWikii GNAL.
    GenomeRNAii 2774.
    NextBioi 10910.
    PROi P38405.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P38405.
    Bgeei P38405.
    CleanExi HS_GNAL.
    Genevestigatori P38405.

    Family and domain databases

    Gene3Di 1.10.400.10. 1 hit.
    3.40.50.300. 2 hits.
    InterProi IPR000367. Gprotein_alpha_S.
    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.
    PR00443. GPROTEINAS.
    SMARTi SM00275. G_alpha. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47895. SSF47895. 1 hit.
    SSF52540. SSF52540. 2 hits.
    ProtoNeti Search...

    Publicationsi

    1. "Human G(olf) alpha: complementary deoxyribonucleic acid structure and expression in pancreatic islets and other tissues outside the olfactory neuroepithelium and central nervous system."
      Zigman J.M., Westermark G.T., Lamendola J., Boel E., Steiner D.F.
      Endocrinology 133:2508-2514(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Insulinoma.
    2. "The gene for the human G protein Golf alpha."
      Vuoristo J.T., Berrettini W.H., Overhauser J., Prockop D.J., Ferraro T.N., Ala-Kokko L.
      Submitted (APR-1996) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Tongue.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. 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] (ISOFORM 2).
      Tissue: Testis.
    7. "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] (ISOFORM 1).
      Tissue: Brain.
    8. Cited for: VARIANTS DYT25 102-PRO--VAL-104 DEL; MET-137 AND LYS-155, VARIANT PHE-16, CHARACTERIZATION OF VARIANTS DYT25 MET-137 AND LYS-155.

    Entry informationi

    Entry nameiGNAL_HUMAN
    AccessioniPrimary (citable) accession number: P38405
    Secondary accession number(s): B7ZA26, Q86XU3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1994
    Last sequence update: October 1, 1994
    Last modified: October 1, 2014
    This is version 137 of the entry and version 1 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 18
      Human chromosome 18: 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