NEUROG1

Chr 5q31.1

neurogenin 1

Aliases:: AKA, Math4C, ngn1, bHLHa6
MANE:: ENST00000314744.6

OMIM: 601726 ↗NCBI: 4762 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

NEUROG1 · Q92886

v62025-08-01

Predicted Aligned Error matrix for NEUROG1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.1/ 100

Low

237 residues

Confidence breakdown

Very high(≥ 90)27%
Confident(70–90)6%
Low(50–70)38%
Very low(< 50)30%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss

Disease associations (Open Targets)

cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay
0.57
neurodegenerative disease
0.52
male reproductive organ cancer
0.08
idiopathic pulmonary fibrosis
0.04
bipolar disorder
0.04
colorectal carcinoma
0.04
adenoma
0.04
Patent ductus arteriosus
0.04
deafness
0.04
burning mouth syndrome
0.04

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

Protein function (UniProt)

Neurogenin-1

Acts as a transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity)