Human Gene GNAI1 (uc003uhb.1)
  Description: Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 (GNAI1), transcript variant 1, mRNA.
RefSeq Summary (NM_002069): Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The alpha subunit binds guanine nucleotide, can hydrolyze GTP, and can interact with other proteins. The protein encoded by this gene represents the alpha subunit of an inhibitory complex. The encoded protein is part of a complex that responds to beta-adrenergic signals by inhibiting adenylate cyclase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012].
Transcript (Including UTRs)
   Position: hg19 chr7:79,764,140-79,848,725 Size: 84,586 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr7:79,764,477-79,846,809 Size: 82,333 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:79,764,140-79,848,725)mRNA (may differ from genome)Protein (354 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSCGAPEnsemblEntrez GeneExonPrimer
GeneCardsGeneNetworkH-INVHGNCHPRDLynx
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: GNAI1_HUMAN
DESCRIPTION: RecName: Full=Guanine nucleotide-binding protein G(i) subunit alpha-1; AltName: Full=Adenylate cyclase-inhibiting G alpha protein;
FUNCTION: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(i) proteins are involved in hormonal regulation of adenylate cyclase: they inhibit the cyclase in response to beta-adrenergic stimuli. The inactive GDP-bound form prevents the association of RGS14 with centrosomes and is required for the translocation of RGS14 from the cytoplasm to the plasma membrane. May play a role in cell division.
SUBUNIT: Interacts with GPSM1. Interacts with RGS12. Interacts (via active GTP- or inactive GDP-bound forms) with RGS14 (via RGS and GoLoco domains); the interaction occurs in the centrosomes. Interacts (GDP-bound form) with RIC8A (via C-terminus) (By similarity). Interacts with DRD2. G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site.
INTERACTION: P81274:GPSM2; NbExp=3; IntAct=EBI-618639, EBI-618655; Q14980:NUMA1; NbExp=4; IntAct=EBI-618639, EBI-521611;
SUBCELLULAR LOCATION: Nucleus (By similarity). Cytoplasm. Cell membrane. Cytoplasm, cytoskeleton, centrosome. Note=Localized at the plasma membrane throughout mitosis. Colocalizes with RIC8A and RGS14 at the plasma membrane (By similarity). Localizes in the centrosomes of interphase and mitotic cells, but not in centrosomes during cytokinesis. Detected at the cleavage furrow or the midbody.
SIMILARITY: Belongs to the G-alpha family. G(i/o/t/z) subfamily.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): GNAI1
CDC HuGE Published Literature: GNAI1
Positive Disease Associations: Body Mass Index , Heart Failure
Related Studies:
  1. Body Mass Index
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
  2. Heart Failure
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: GNAI1
Diseases sorted by gene-association score: pertussis (19), cholera (13), congenital stationary night blindness (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • C006780 bisphenol A
  • D001564 Benzo(a)pyrene
  • D013749 Tetrachlorodibenzodioxin
  • C006253 pirinixic acid
  • C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl
  • C029141 2,2,5,7,8-pentamethyl-1-hydroxychroman
  • C023514 2,6-dinitrotoluene
  • C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • C547126 AZM551248
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 35.94 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 529.02 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -176.80337-0.525 Picture PostScript Text
3' UTR -421.201916-0.220 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001408 - Gprotein_alpha_I
IPR001019 - Gprotein_alpha_su
IPR011025 - GproteinA_insert

Pfam Domains:
PF00025 - ADP-ribosylation factor family
PF00503 - G-protein alpha subunit

SCOP Domains:
47895 - Transducin (alpha subunit), insertion domain
52540 - P-loop containing nucleoside triphosphate hydrolases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1KJY - X-ray MuPIT 1Y3A - X-ray MuPIT 2EBC - X-ray 2G83 - X-ray MuPIT 2GTP - X-ray MuPIT 2IK8 - X-ray MuPIT 2OM2 - X-ray MuPIT 2PZ3 - X-ray 2XNS - X-ray MuPIT 3ONW - X-ray MuPIT 3QE0 - X-ray MuPIT 3QI2 - X-ray MuPIT 3UMS - X-ray MuPIT 4G5Q - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P63096
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserNo orthologGenome Browser
Gene Details  Gene Details Gene Details
Gene Sorter  Gene Sorter Gene Sorter
  EnsemblFlyBase SGD
  Protein SequenceProtein Sequence Protein Sequence
  AlignmentAlignment Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0000287 magnesium ion binding
GO:0001664 G-protein coupled receptor binding
GO:0003924 GTPase activity
GO:0004871 signal transducer activity
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0019001 guanyl nucleotide binding
GO:0019003 GDP binding
GO:0031683 G-protein beta/gamma-subunit complex binding
GO:0031821 G-protein coupled serotonin receptor binding
GO:0032794 GTPase activating protein binding
GO:0046872 metal ion binding

Biological Process:
GO:0006457 protein folding
GO:0007049 cell cycle
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway
GO:0007193 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway
GO:0043434 response to peptide hormone
GO:0043949 regulation of cAMP-mediated signaling
GO:0050805 negative regulation of synaptic transmission
GO:0051301 cell division
GO:0060236 regulation of mitotic spindle organization
GO:1904322 cellular response to forskolin
GO:1904778 positive regulation of protein localization to cell cortex

Cellular Component:
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005765 lysosomal membrane
GO:0005813 centrosome
GO:0005815 microtubule organizing center
GO:0005834 heterotrimeric G-protein complex
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005938 cell cortex
GO:0016020 membrane
GO:0030496 midbody
GO:0032991 macromolecular complex
GO:0045121 membrane raft
GO:0070062 extracellular exosome
GO:0099738 cell cortex region


-  Descriptions from all associated GenBank mRNAs
  KJ896897 - Synthetic construct Homo sapiens clone ccsbBroadEn_06291 GNAI1 gene, encodes complete protein.
BC026326 - Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1, mRNA (cDNA clone MGC:26298 IMAGE:4791696), complete cds.
AL049933 - Homo sapiens mRNA; cDNA DKFZp564K1216 (from clone DKFZp564K1216).
AK292953 - Homo sapiens cDNA FLJ76976 complete cds, highly similar to Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 (GNAI1), mRNA.
AF055013 - Homo sapiens clone 24695 guanine nucleotide-binding protein alpha-i subunit (GNAZ) mRNA, complete cds.
AM393657 - Synthetic construct Homo sapiens clone IMAGE:100002077 for hypothetical protein (GNAI1 gene).
DQ895598 - Synthetic construct Homo sapiens clone IMAGE:100010058; FLH185819.01L; RZPDo839F06147D guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 (GNAI1) gene, encodes complete protein.
DQ895599 - Synthetic construct Homo sapiens clone IMAGE:100010059; FLH263700.01L; RZPDo839F07147D guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 (GNAI1) gene, encodes complete protein.
DQ892385 - Synthetic construct clone IMAGE:100005015; FLH185823.01X; RZPDo839F06148D guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 (GNAI1) gene, encodes complete protein.
AB384818 - Synthetic construct DNA, clone: pF1KB3505, Homo sapiens GNAI1 gene for guanine nucleotide-binding protein G(i), alpha-1 subunit, complete cds, without stop codon, in Flexi system.
CU693214 - Synthetic construct Homo sapiens gateway clone IMAGE:100019057 5' read GNAI1 mRNA.
BT019775 - Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 mRNA, complete cds.
AF493905 - Homo sapiens guanine nucleotide binding protein alpha i1 (GNAI1) mRNA, complete cds.
M17219 - Human brain guanine nucleotide-binding protein alpha-i subunit mRNA, 5' end.
AK304442 - Homo sapiens cDNA FLJ57446 complete cds, highly similar to Guanine nucleotide-binding protein G(i), alpha-1 subunit.
JD426042 - Sequence 407066 from Patent EP1572962.
JD336595 - Sequence 317619 from Patent EP1572962.
JD406971 - Sequence 387995 from Patent EP1572962.
JD069385 - Sequence 50409 from Patent EP1572962.
JD408452 - Sequence 389476 from Patent EP1572962.
JD436672 - Sequence 417696 from Patent EP1572962.
JD325078 - Sequence 306102 from Patent EP1572962.
JD146073 - Sequence 127097 from Patent EP1572962.
JD205777 - Sequence 186801 from Patent EP1572962.
JD472804 - Sequence 453828 from Patent EP1572962.
JD330000 - Sequence 311024 from Patent EP1572962.
JD110054 - Sequence 91078 from Patent EP1572962.
JD093594 - Sequence 74618 from Patent EP1572962.
JD296506 - Sequence 277530 from Patent EP1572962.
JD036440 - Sequence 17464 from Patent EP1572962.
JD233089 - Sequence 214113 from Patent EP1572962.
JD499509 - Sequence 480533 from Patent EP1572962.
JD492942 - Sequence 473966 from Patent EP1572962.
JD502348 - Sequence 483372 from Patent EP1572962.
JD251123 - Sequence 232147 from Patent EP1572962.
JD233717 - Sequence 214741 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04062 - Chemokine signaling pathway
hsa04360 - Axon guidance
hsa04530 - Tight junction
hsa04540 - Gap junction
hsa04670 - Leukocyte transendothelial migration
hsa04730 - Long-term depression
hsa04914 - Progesterone-mediated oocyte maturation
hsa04916 - Melanogenesis
hsa05142 - Chagas disease

Reactome (by CSHL, EBI, and GO)

Protein P63096 (Reactome details) participates in the following event(s):

R-HSA-8850560 G-protein alpha releases G-protein heterotrimer from PDCL
R-HSA-392206 G alpha (i) inhibits adenylate cyclase
R-HSA-392212 G alpha (i) auto-inactivates by hydrolysing GTP to GDP
R-HSA-392202 Dissociation of the P2Y purinoceptor 12:Gi complex
R-HSA-749454 The Ligand:GPCR:Gi complex dissociates
R-HSA-751001 Inactive G alpha (i) reassociates with G beta:gamma
R-HSA-170674 Dissociation of the Gi alpha:G olf complex
R-HSA-167433 G-protein beta-gamma subunits rebind the alpha-GDP subunit
R-HSA-112037 Inactivation of PLC beta
R-HSA-167415 G-protein alpha subunit is inactivated
R-HSA-111870 Activation of PLC beta-1/4
R-HSA-112271 The receptor:G-protein complex dissociates
R-HSA-167429 The receptor:G-protein complex binds GTP
R-HSA-400037 Gi,Go Heterotrimeric G-protein complex dissociates
R-HSA-170671 G alpha-olf:GTP binds to Gi alpha1:GTP:adenylate cyclase complex
R-HSA-170686 Adenylate cyclase increases the GTPase activity of Gi alpha
R-HSA-392187 Activated P2Y purinoceptor 12 binds G-protein Gi
R-HSA-749456 Liganded Gi-activating GPCRs bind inactive heterotrimeric G-protein Gi
R-HSA-167408 The high affinity receptor complex binds to G-protein
R-HSA-167419 The receptor:G-protein complex releases GDP
R-HSA-400092 Alpha-2A,alpha-2C Adrenergic Receptors activate Gi.Go heterotrimeric G proteins
R-HSA-392195 Gi activation by P2Y purinoceptor 12
R-HSA-380073 Liganded Gi-activating GPCR acts as a GEF for Gi
R-HSA-170666 Adenylate cyclase increases the GTPase activity of G alpha-olf
R-HSA-111879 PIP2 hydrolysis
R-HSA-6814122 Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
R-HSA-170670 Adenylate cyclase inhibitory pathway
R-HSA-418594 G alpha (i) signalling events
R-HSA-392170 ADP signalling through P2Y purinoceptor 12
R-HSA-202040 G-protein activation
R-HSA-112043 PLC beta mediated events
R-HSA-390466 Chaperonin-mediated protein folding
R-HSA-400042 Adrenaline,noradrenaline inhibits insulin secretion
R-HSA-112040 G-protein mediated events
R-HSA-997269 Inhibition of adenylate cyclase pathway
R-HSA-388396 GPCR downstream signalling
R-HSA-392518 Signal amplification
R-HSA-111885 Opioid Signalling
R-HSA-391251 Protein folding
R-HSA-422356 Regulation of insulin secretion
R-HSA-991365 Activation of GABAB receptors
R-HSA-372790 Signaling by GPCR
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-392499 Metabolism of proteins
R-HSA-163685 Energy Metabolism
R-HSA-977444 GABA B receptor activation
R-HSA-162582 Signal Transduction
R-HSA-109582 Hemostasis
R-HSA-1430728 Metabolism
R-HSA-977443 GABA receptor activation
R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: A8KA88, GNAI1_HUMAN, NM_002069, NP_001243343, P04898, P11015, P31871, P63096, Q5U074, Q8TAN5, Q9UGA4
UCSC ID: uc003uhb.1
RefSeq Accession: NM_002069
Protein: P63096 (aka GNAI1_HUMAN or GBI1_HUMAN)
CCDS: CCDS5595.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_002069.5
exon count: 8CDS single in 3' UTR: no RNA size: 3318
ORF size: 1065CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2145.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.