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

Gene ID: 2781, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (23070519..23125032)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (23493390..23547904)
105.20220307 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
  • 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. 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
  2. GNAZ in human fetal cochlea: expression, localization, and potential role in inner ear function. Magovcevic I, et al. Hear Res, 1995 Oct. PMID 8975005
  3. 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
  4. 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
  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 (59) 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
  

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_2023_10

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

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