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

Gene ID: 2781, updated on 22-Aug-2020

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
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
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

Genomic context

See GNAZ in Genome Data Viewer
Location:
22q11.22-q11.23
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (23070519..23125037)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (23412669..23467224)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene immunoglobulin lambda locus Neighboring gene uncharacterized LOC105372947 Neighboring gene ATP synthase-coupling factor 6, mitochondrial-like Neighboring gene immunoglobulin lambda constant 7 Neighboring gene radial spoke head 14 homolog Neighboring gene RNA, 7SL, cytoplasmic 6, pseudogene Neighboring gene RAB36, member RAS oncogene family

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

Associated conditions

Description Tests
Many sequence variants affecting diversity of adult human height.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G protein-coupled receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G protein-coupled serotonin receptor binding IEA
Inferred from Electronic Annotation
more info
 
G-protein beta/gamma-subunit complex binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
adenylate cyclase-modulating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein folding TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cell body IEA
Inferred from Electronic Annotation
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum TAS
Traceable Author Statement
more info
PubMed 
heterotrimeric G-protein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear envelope TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
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
transducin alpha

NCBI Reference Sequences (RefSeq)

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
    P19086
    UniProtKB/TrEMBL
    Q8IY73
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    23070519..23125037
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028786.2XP_016884275.1  guanine nucleotide-binding protein G(z) subunit alpha isoform X1

RNA

  1. XR_937843.3 RNA Sequence

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