Target intelligence / Profile preview

Guanine nucleotide-binding protein subunit beta-like protein 1 (GNB1L)

Target
GNB1L
Molecular classification
Other (WD repeat protein family)
01

Overview

Guanine nucleotide-binding protein subunit beta-like protein 1 (GNB1L) is a member of the WD repeat protein family, characterized by multiple WD40 repeats which facilitate the formation of multiprotein complexes. GNB1L is involved in a range of fundamental cellular processes, including cell cycle progression, signal transduction, apoptosis, gene regulation, and particularly acts as a critical regulator of DNA damage response by specifically regulating PIKK family proteins. It is highly expressed in the heart and is located within the chromosome 22q11 region, which is implicated in several syndromic disorders, including DiGeorge syndrome, derivative 22 syndrome, and cat-eye syndrome. While associated with several diseases, GNB1L is not currently established as a primary therapeutic target such as a receptor, enzyme, or transporter[1][2][3][10].

Other names
GNB1LG protein subunit beta 1 likeDGCRK3GY2WDR14WDVCFFKSG1G protein subunit beta-like protein 1Guanine nucleotide binding protein (G protein), beta polypeptide 1-likeWD repeat-containing protein 14WD40 repeat-containing protein deleted in VCFSGuanine nucleotide-binding protein subunit beta-like protein 1
02

Biological functions

DNA damage response (DDR) signalingRegulation of phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteinsSignal transductionCell cycle progressionApoptosisGene regulation
03

Disease associations

Autism spectrum disorderEpiglottis neoplasmPossibly schizophrenia and bipolar disorder (risk allele association)Contribution to DiGeorge syndrome, derivative 22 syndrome, cat-eye syndrome (due to chromosomal mapping to 22q11)

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