NFIA

Chr 1p31.3

nuclear factor I A

Aliases:: NFI-L, KIAA1439
MANE:: ENST00000403491.8

OMIM: 600727 ↗NCBI: 4774 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

NFIA · Q12857

v62025-08-01

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

Mean pLDDT

62.7/ 100

Low

509 residues

Confidence breakdown

Very high(≥ 90)31%
Confident(70–90)8%
Low(50–70)12%
Very low(< 50)50%

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
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

chromosome 1p32-p31 deletion syndrome
0.76
Nephrosis - deafness - urinary tract - digital malformations
0.57
hereditary disease
0.53
hypothyroidism
0.48
thyrotoxicosis
0.46
nontoxic goiter
0.45
multinodular goiter
0.45
Intellectual disability
0.44
goiter
0.43
hyperthyroidism
0.43

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

Protein function (UniProt)

Nuclear factor 1 A-type

Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication