ZIC1

Chr 3q24

Zic family zinc finger 1

Aliases:: ZIC, ZNF201
MANE:: ENST00000282928.5

OMIM: 600470 ↗NCBI: 7545 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ZIC1 · Q15915

v62025-08-01

Predicted Aligned Error matrix for ZIC1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

54.1/ 100

Low

447 residues

Confidence breakdown

Very high(≥ 90)8%
Confident(70–90)26%
Low(50–70)7%
Very low(< 50)59%

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, imprinted status unknown
Rare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

structural brain anomalies with impaired intellectual development and craniosynostosis
0.67
craniosynostosis 6
0.65
craniosynostosis
0.60
hereditary disease
0.37
isolated brachycephaly
0.37
substance-related disorder
0.26
stroke disorder
0.24
alcohol drinking
0.24
ankylosing spondylitis
0.21
placental abruption
0.21

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

Protein function (UniProt)

Zinc finger protein ZIC 1

Acts as a transcriptional activator. Involved in neurogenesis. Plays important roles in the early stage of organogenesis of the CNS, as well as during dorsal spinal cord development and maturation of the cerebellum. Involved in the spatial distribution of mossy fiber (MF) neurons within the pontine gray nucleus (PGN). Plays a role in the regulation of MF axon pathway choice. Promotes MF migration towards ipsilaterally-located cerebellar territories. May have a role in shear flow mechanotransduction in osteocytes. Retains nuclear GLI1 and GLI3 in the cytoplasm. Binds to the minimal GLI-consensus sequence 5'-TGGGTGGTC-3' (By similarity)