QRICH1

Chr 3p21.31

glutamine rich 1

Aliases:: FLJ20259, VERBRAS, AB-DIP
MANE:: ENST00000395443.7

OMIM: 617387 ↗NCBI: 54870 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

QRICH1 · Q2TAL8

v62025-08-01

Predicted Aligned Error matrix for QRICH1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

57.5/ 100

Low

776 residues

Confidence breakdown

Very high(≥ 90)27%
Confident(70–90)13%
Low(50–70)5%
Very low(< 50)55%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

Ververi-Brady syndrome 1
0.74
Intellectual disability
0.55
hereditary disease
0.53
Down syndrome
0.38
Ververi-Brady syndrome
0.37
syndromic complex neurodevelopmental disorder
0.37
Mild intellectual disability
0.34
neurodegenerative disease
0.32
autism spectrum disorder
0.13
Abnormality of the skeletal system
0.12

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transcriptional regulator QRICH1

Transcriptional regulator that acts as a mediator of the integrated stress response (ISR) through transcriptional control of protein homeostasis under conditions of ER stress (PubMed:33384352, PubMed:40355839). Controls the outcome of the unfolded protein response (UPR) which is an ER-stress response pathway (PubMed:33384352). ER stress induces QRICH1 translation by a ribosome translation re-initiation mechanism in response to EIF2S1/eIF-2-alpha phosphorylation, and stress-induced QRICH1 regulates a transcriptional program associated with protein translation, protein secretion-mediated proteotoxicity and cell death during the terminal UPR (PubMed:33384352). May cooperate with ATF4 transcription factor signaling to regulate ER homeostasis which is critical for cell viability (PubMed:33384352). Up-regulates CASP3/caspase-3 activity in epithelial cells under ER stress. Central regulator of proteotoxicity associated with ER stress-mediated inflammatory diseases in the intestines and liver (PubMed:33384352). Core component of the zincore complex, a heterotetramer that acts as a molecular 'grip' to stabilize transcription factors at DNA-binding sites across the genome, thereby controlling gene expression (PubMed:40608935). The zincore complex binds specifically to zinc finger transcription factors, such as ZFP91, ZNF652, ZNF526 and PRDM15, and stabilizes them onto their cognate DNA motif (PubMed:40608935). Involved in chondrocyte hypertrophy, a process required for normal longitudinal bone growth (PubMed:30281152)