NAF1

Chr 4q32.2

nuclear assembly factor 1 ribonucleoprotein

MANE:: ENST00000274054.3

OMIM: 617868 ↗NCBI: 92345 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

NAF1 · Q96HR8

v62025-08-01

Predicted Aligned Error matrix for NAF1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

61.2/ 100

Low

494 residues

Confidence breakdown

Very high(≥ 90)20%
Confident(70–90)14%
Low(50–70)21%
Very low(< 50)46%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood interstitial lung disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematological malignancies cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Haematological malignancies for rare disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pulmonary fibrosis familial
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7
0.72
neurodegenerative disease
0.52
dyskeratosis congenita
0.46
acute myeloid leukemia with minimal differentiation
0.46
hypertensive disorder
0.44
pulmonary fibrosis
0.39
lung adenocarcinoma
0.33
infectious disease
0.29
hidradenitis
0.27
phlebitis
0.27

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

Protein function (UniProt)

H/ACA ribonucleoprotein complex non-core subunit NAF1

RNA-binding protein required for the maturation of box H/ACA snoRNPs complex and ribosome biogenesis. During assembly of the H/ACA snoRNPs complex, it associates with the complex and disappears during maturation of the complex and is replaced by NOLA1/GAR1 to yield mature H/ACA snoRNPs complex. Probably competes with NOLA1/GAR1 for binding with DKC1/NOLA4