NAF1 Chromosome 4
Nuclear assembly factor 1 ribonucleoprotein
Upload your DNA to see your personal genotypes for variants in NAF1.
What This Gene Does
Enables identical protein binding activity and telomerase RNA binding activity. Involved in ribosome biogenesis; telomerase RNA stabilization; and telomerase holoenzyme complex assembly. Acts upstream of or within telomerase RNA localization to Cajal body. Located in cytoplasm and nucleoplasm. Part of sno(s)RNA-containing ribonucleoprotein complex. Implicated in melanoma. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Ribosomal biogenesis factors
Locus Type
gene with protein product
Location
4q32.2
Ensembl
ENSG00000145414
Associated Conditions (5)
Pulmonary fibrosis
NAF1-related disorder
Pulmonary fibrosis and/or bone marrow failure syndrome
telomere-related
7
Key Variants
RS1414961716
Conflicting classifications of pathogenicity
Pulmonary fibrosis, Pulmonary fibrosis
Health Risk
RS143001503
Conflicting classifications of pathogenicity
NAF1-related disorder, NAF1-related disorder
Health Risk
RS146474502
Conflicting classifications of pathogenicity
Health Risk
RS200588702
Conflicting classifications of pathogenicity
Health Risk
RS376575422
Conflicting classifications of pathogenicity
Health Risk
RS774610958
Conflicting classifications of pathogenicity
Health Risk
RS778042759
Conflicting classifications of pathogenicity
Health Risk
RS959538930
Conflicting classifications of pathogenicity
Health Risk
RS2110894530
Likely pathogenic
Health Risk
RS2477240425
Likely pathogenic
Health Risk
RS1173387237
Likely risk allele
Pulmonary fibrosis, Pulmonary fibrosis
Health Risk
RS1422984777
Likely risk allele
Pulmonary fibrosis, Pulmonary fibrosis
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1414961716 | Health Risk | Conflicting classifications of pathogenicity | Pulmonary fibrosis, Pulmonary fibrosis |
| RS143001503 | Health Risk | Conflicting classifications of pathogenicity | NAF1-related disorder, NAF1-related disorder |
| RS146474502 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200588702 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376575422 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774610958 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS778042759 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS959538930 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2110894530 | Health Risk | Likely pathogenic | — |
| RS2477240425 | Health Risk | Likely pathogenic | — |
| RS1173387237 | Health Risk | Likely risk allele | Pulmonary fibrosis, Pulmonary fibrosis |
| RS1422984777 | Health Risk | Likely risk allele | Pulmonary fibrosis, Pulmonary fibrosis |
| RS755320741 | Health Risk | Likely risk allele | Pulmonary fibrosis, Pulmonary fibrosis |
| RS757340097 | Health Risk | Likely risk allele | Pulmonary fibrosis, Pulmonary fibrosis |
| RS2477172867 | Health Risk | Pathogenic | Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 |
| RS753889327 | Health Risk | Pathogenic | Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 |