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    GNAZ G protein subunit alpha z [ Homo sapiens (human) ]

    Gene ID: 2781, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GNAZprovided by HGNC
    Official Full Name
    G protein subunit alpha zprovided by HGNC
    Primary source
    HGNC:HGNC:4395
    See related
    Ensembl:ENSG00000128266 MIM:139160; AllianceGenome:HGNC:4395
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HG1H; gz-alpha
    Summary
    The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in pertussis toxin-insensitive systms. This encoded protein may play a role in maintaining the ionic balance of perilymphatic and endolymphatic cochlear fluids. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in brain (RPKM 3.2), gall bladder (RPKM 1.3) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GNAZ in Genome Data Viewer
    Location:
    22q11.22-q11.23
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (23070519..23125032)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (23493390..23547904)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (23412705..23467219)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene immunoglobulin lambda locus Neighboring gene uncharacterized LOC105372947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18737 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18739 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18740 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18741 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18742 Neighboring gene NANOG hESC enhancer GRCh37_chr22:23371522-23372419 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:23372942-23373717 Neighboring gene immunoglobulin lambda constant 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23389476-23389976 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23389977-23390477 Neighboring gene ATP5PF pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18743 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23400965-23401466 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:23408338-23408545 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13530 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13531 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:23413406-23414286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23414287-23415168 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:23419536-23420472 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:23420473-23421408 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:23427689-23428684 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23443582-23444481 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23444482-23445380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23449187-23450051 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23454971-23455874 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23458713-23459630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23464199-23464700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23468351-23469228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23469593-23470182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23470183-23470770 Neighboring gene U7 small nuclear RNA Neighboring gene radial spoke head 14 homolog Neighboring gene RNA, 7SL, cytoplasmic 6, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Lipid modifications of G proteins: alpha subunits are palmitoylated. Linder ME, et al. Proc Natl Acad Sci U S A, 1993 Apr 15. PMID 8475115, Free PMC Article
    2. Overexpressed GNAZ predicts poor outcome and promotes G0/G1 cell cycle progression in hepatocellular carcinoma. Tian F, et al. Gene, 2022 Jan 10. PMID 34530087
    3. Novel localization of a G protein, Gz-alpha, in neurons of brain and retina. Hinton DR, et al. J Neurosci, 1990 Aug. PMID 2117645, Free PMC Article
    4. GNAZ in human fetal cochlea: expression, localization, and potential role in inner ear function. Magovcevic I, et al. Hear Res, 1995 Oct. PMID 8975005
    5. Characterization of the human gene for Gx alpha, a pertussis toxin-insensitive regulatory GTP-binding protein. Matsuoka M, et al. J Biol Chem, 1990 Aug 5. PMID 2115889

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Overexpressed GNAZ predicts poor outcome and promotes G0/G1 cell cycle progression in hepatocellular carcinoma.
      Title: Overexpressed GNAZ predicts poor outcome and promotes G0/G1 cell cycle progression in hepatocellular carcinoma.
    2. Low GNAZ expression is associated with 22q11.2 deletion syndrome.
      Title: Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome.
    3. GNAZ mutations are associated with melanoma.
      Title: Novel somatic mutations in heterotrimeric G proteins in melanoma.
    4. findings suggest that Galphaz signals may attenuate Rho-induced stimulation of SRF-mediated transcription
      Title: Galphaz inhibits serum response factor-dependent transcription by inhibiting Rho signaling.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables G protein-coupled serotonin receptor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables G-protein beta/gamma-subunit complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables adenylate cyclase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in G protein-coupled serotonin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of insulin secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum TAS
    Traceable Author Statement
    more info
    		 PubMed 
    part_of heterotrimeric G-protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear envelope TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    guanine nucleotide-binding protein G(z) subunit alpha
    Names
    g(x) alpha chain
    guanine nucleotide binding protein (G protein), alpha z polypeptide
    heterotrimeric guanine nucleotide-binding protein 1H
    transducin alpha

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_002073.4 → NP_002064.1  guanine nucleotide-binding protein G(z) subunit alpha

      See identical proteins and their annotated locations for NP_002064.1

      Status: REVIEWED

      Source sequence(s)
      AC000029, BC037333, J03260
      Consensus CDS
      CCDS13804.1
      UniProtKB/Swiss-Prot
      B2R6C1, P19086, Q4QRJ6
      UniProtKB/TrEMBL
      Q8IY73, Q8N652
      Related
      ENSP00000478892.1, ENST00000615612.2
      Conserved Domains (1) summary
      cd00066
      Location:34 → 349
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      23070519..23125032
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441346.1 → XP_047297302.1  guanine nucleotide-binding protein G(z) subunit alpha isoform X1

    2. XM_017028786.3 → XP_016884275.1  guanine nucleotide-binding protein G(z) subunit alpha isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      23493390..23547904
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325577.1 → XP_054181552.1  guanine nucleotide-binding protein G(z) subunit alpha isoform X1

    2. XM_054325578.1 → XP_054181553.1  guanine nucleotide-binding protein G(z) subunit alpha isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P19086.3 GenPept UniProtKB/Swiss-Prot:P19086

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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