CASZ1

Chr 1p36.22

castor zinc finger 1

Aliases:: FLJ20321, ZNF693, castor, cst, SRG
MANE:: ENST00000377022.8

OMIM: 609895 ↗NCBI: 54897 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CASZ1 · Q86V15

v62025-08-01

Predicted Aligned Error matrix for CASZ1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

52.0/ 100

Low

1,759 residues

Confidence breakdown

Very high(≥ 90)1%
Confident(70–90)33%
Low(50–70)6%
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)

Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Left Ventricular Noncompaction Cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

dilated cardiomyopathy
0.52
atrial fibrillation
0.52
Varicose veins
0.51
Abnormality of the skeletal system
0.51
hypertensive disorder
0.49
cataract
0.45
essential hypertension
0.44
alcohol drinking
0.43
heart failure
0.43
atrial flutter
0.42

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

Protein function (UniProt)

Zinc finger protein castor homolog 1

Transcriptional activator (PubMed:23639441, PubMed:27693370). Involved in vascular assembly and morphogenesis through direct transcriptional regulation of EGFL7 (PubMed:23639441)