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

Gene ID: 2781, updated on 10-Dec-2024

Summary

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

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 
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

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_002073.4NP_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:34349
    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_047441346.1XP_047297302.1  guanine nucleotide-binding protein G(z) subunit alpha isoform X1

  2. XM_017028786.3XP_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_054325577.1XP_054181552.1  guanine nucleotide-binding protein G(z) subunit alpha isoform X1

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