GNB1L G protein subunit beta 1 like [Homo sapiens (human)] - Gene

Summary

Official Symbol: GNB1Lprovided by HGNC
Official Full Name: G protein subunit beta 1 likeprovided by HGNC
Primary source: HGNC:HGNC:4397
See related: Ensembl:ENSG00000185838 MIM:610778; AllianceGenome:HGNC:4397
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GY2; FKSG1; WDR14; WDVCF; DGCRK3
Summary: This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 6 WD repeats and is highly expressed in the heart. The gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders. Transcripts from this gene share exons with some transcripts from the C22orf29 gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in spleen (RPKM 1.9), duodenum (RPKM 1.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q11.21

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (19783223..19854874, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (20160093..20231743, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (19770746..19842397, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sequencing of the coding regions of GNBIL on chromosome 22q11.2 as a risk gene of schizophrenia.
Title: Sequencing of the coding regions of GNBIL on chromosome 22q11.2 as a risk gene of schizophrenia.
mRNA expression results implies that the GNB1L high-expression allele is the risk allele for schizophrenia and bipolar disorder in the Han Chinese population.
Title: The schizophrenia/bipolar disorder candidate gene GNB1L is regulated in human temporal cortex by a cis-acting element located within the 3'-region.
The results of this study suggested that GNB1L is linked with bipolar disorder and schizophrenia and not with major depressive disorder.
Title: Association study between GNB1L and three major mental disorders in Chinese Han populations.
Beta-blocker therapy and heart rate control during exercise testing in the general population: role of GNB1L variant.
Title: β-blocker therapy and heart rate control during exercise testing in the general population: role of a common G-protein β-3 subunit variant.
The present findings support assertions that GNB1L is one of the genes in the 22q11DS region responsible for increasing the risk of schizophrenia.
Title: Supportive evidence for reduced expression of GNB1L in schizophrenia.
GbetaL is involved in the negative regulation of TNFalpha-stimulated NF-kappaB signaling through a direct interaction with IKK.
Title: GbetaL regulates TNFalpha-induced NF-kappaB signaling by directly inhibiting the activation of IkappaB kinase.
markers associated with psychosis are also correlated with alterations in GNB1L expression, raising the hypothesis that the risk to develop psychosis at this locus could be mediated in a dose sensitive manner via gene expression
Title: Strong evidence that GNB1L is associated with schizophrenia.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association study between GNB1L and three major mental disorders in Chinese Han populations.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH46328 (e-PCR)
- UniSTS:12301

SHGC-56622 (e-PCR)
- UniSTS:53005

D22S1584 (e-PCR)
- UniSTS:473695

STS-AA041293 (e-PCR)
- UniSTS:33432

D22S1266 (e-PCR)
- UniSTS:71324

WI-15274 (e-PCR)
- UniSTS:81073

RH103410 (e-PCR)
- UniSTS:97735

STS-T79756 (e-PCR)
- UniSTS:49873

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in DNA damage checkpoint signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: guanine nucleotide-binding protein subunit beta-like protein 1

Names: G-protein beta subunit-like protein; WD repeat-containing protein 14; WD40 repeat-containing protein deleted in VCFS; g protein subunit beta-like protein 1; guanine nucleotide binding protein (G protein), beta polypeptide 1-like; guanine nucleotide binding protein beta-subunit-like polypeptide

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)

NM_053004.3 → NP_443730.1 guanine nucleotide-binding protein subunit beta-like protein 1

See identical proteins and their annotated locations for NP_443730.1

Status: VALIDATED

Source sequence(s)

AC000089, AC000091, AY007378, CA425124

Consensus CDS

CCDS13768.1

UniProtKB/Swiss-Prot

Q9BYB4, Q9H2S2, Q9H4M4

Related

ENSP00000331313.6, ENST00000329517.11

Conserved Domains (2) summary

sd00039
Location:70 → 110

7WD40; WD40 repeat [structural motif]

cl25539
Location:14 → 322

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...