NAF1

Chr 4AD

nuclear assembly factor 1 ribonucleoprotein

Also known as: PFBMFT7

NCBI Gene: 92345ENSG00000145414UniProt: Q96HR8

The NAF1 protein is required for ribosome biogenesis and assembly of the telomerase holoenzyme complex, binding to telomerase RNA and facilitating its stabilization and localization. Mutations cause pulmonary fibrosis and/or bone marrow failure syndrome with telomere-related features, inherited in an autosomal dominant pattern. This gene is highly constrained against loss-of-function variants, reflecting its essential cellular functions.

Summary from RefSeq, OMIM, UniProt
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Primary Disease Associations & Inheritance

Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7MIM #620365
AD
1
Active trials
11
Pubs (1 yr)
0
P/LP submissions
—
P/LP missense
—
LOEUF
LOF
Mechanism· predicted
Clinical Summary— NAF1
🧬
Gene-Disease Validity (ClinGen)
pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 · ADDefinitive

Definitive — sufficient evidence for diagnostic panels

💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
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Some data sources returned errors (1)

gnomad: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

DN
0.3594th %ile
GOF
0.3391th %ile
LOF
0.73top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NAF1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Host factor Naf1 restricts HIV-1 infection of myeloid cells and compromises the capacity of dendritic cell to prime CD4+ T cell.
Xie C et al.·Virol Sin
2025Open Access
Colorectal cancer-associated SNP rs17042479 is involved in the regulation of NAF1 promoter activity.
Olsson JB et al.·PLoS One
2022Open Access
NAF1 rs4691896 Is Significantly Associated with Coal Workers' Pneumoconiosis in a Chinese Han Population: A Case-Control Study.
Yuan B et al.·Med Sci Monit
2020Open Access
Increased expression of NAF1 contributes to malignant phenotypes of glioma cells through promoting protein synthesis and associates with poor patient survival.
Wei J et al.·Oncogenesis
2019Open Access
Naf1 Regulates HIV-1 Latency by Suppressing Viral Promoter-Driven Gene Expression in Primary CD4+ T Cells.
Li C et al.·J Virol
2017
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients