ZMIZ1

Chr 10q22.3

zinc finger MIZ-type containing 1

Aliases:: RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10
MANE:: ENST00000334512.10

OMIM: 607159 ↗NCBI: 57178 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ZMIZ1 · Q9ULJ6

v62025-08-01

Predicted Aligned Error matrix for ZMIZ1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

57.3/ 100

Low

1,067 residues

Confidence breakdown

Very high(≥ 90)28%
Confident(70–90)8%
Low(50–70)4%
Very low(< 50)60%

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, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
0.75
prostate carcinoma
0.55
breast carcinoma
0.53
colorectal cancer
0.53
Abnormality of the skeletal system
0.51
hereditary disease
0.51
breast cancer
0.50
Intellectual disability
0.50
type 2 diabetes mellitus
0.48
atrial fibrillation
0.47

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

Protein function (UniProt)

Zinc finger MIZ domain-containing protein 1

Acts as a transcriptional coactivator. Increases ligand-dependent transcriptional activity of AR and promotes AR sumoylation. The stimulation of AR activity is dependent upon sumoylation (PubMed:14609956, PubMed:26522984). Also functions as a transcriptional coactivator in the TGF-beta signaling pathway by increasing the activity of the SMAD3/SMAD4 transcriptional complex (PubMed:16777850). Involved in transcriptional activation of a subset of NOTCH1 target genes including MYC. Involved in thymocyte and T cell development (By similarity). Involved in the regulation of postmitotic positioning of pyramidal neurons in the developing cerebral cortex (PubMed:30639322)