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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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NAF1
nuclear assembly factor 1 ribonucleoprotein
Chromosome 4 Β· 4q32.2
NCBI Gene: 92345Ensembl: ENSG00000145414.10HGNC: HGNC:25126UniProt: Q96HR8
73PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytoplasmsno(s)RNA-containing ribonucleoprotein complextelomerase RNA localization to Cajal bodyRNA bindingpulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7neurodegenerative diseasedyskeratosis congenitaminimally differentiated acute myeloblastic leukemia
✦AI Summary

NAF1 is an RNA-binding protein essential for ribosomal biogenesis and telomere maintenance. Functionally, NAF1 assembles box H/ACA small nucleolar ribonucleoproteins (snoRNPs) by associating with nascent complexes and facilitating their maturation, eventually being replaced by NOLA1/GAR1 [UniProt annotation]. It also stabilizes telomerase RNA and promotes telomerase holoenzyme assembly through competitive binding with DKC1 [UniProt annotation]. NAF1 participates in snoRNA-guided pseudouridine synthesis of ribosomal RNA [GO annotations]. NAF1 mutations cause telomere biology disorders (TBDs), a group of rare diseases characterized by impaired telomere maintenance 1. Patients harboring loss-of-function NAF1 mutations present with diverse clinical manifestations, predominantly bone marrow failure, aplastic anemia, pulmonary fibrosis, and liver cirrhosis 1. NAF1 mutations are identified in approximately 30% of familial interstitial lung disease (ILD) cases, where they associate with accelerated decline in lung function 2. Additionally, NAF1 variants (rs4691896) significantly increase susceptibility to coal workers' pneumoconiosis in Chinese populations 3. NAF1 mutations are also implicated as probable causes of early-onset emphysema 4. Beyond pulmonary disease, NAF1 dysregulation contributes to colorectal cancer development; reduced NAF1 expression correlates with more aggressive tumor phenotypes 5. NAF1 additionally regulates HIV-1 latency by suppressing viral LTR-driven transcription in CD4+ T cells 6, identifying it as a multifunctional protein bridging ribosomal biogenesis, telomere homeostasis, and viral persistence.

Sources cited
1
NAF1 mutations cause telomere biology disorders with clinical presentations including bone marrow failure, aplastic anemia, pulmonary fibrosis, and liver cirrhosis
PMID: 36057525
2
NAF1 mutations are found in approximately 30% of familial ILD forms and associate with accelerated lung function decline
PMID: 35715316
3
NAF1 rs4691896 variant significantly increases susceptibility to coal workers' pneumoconiosis
PMID: 32333749
4
NAF1 mutations are implicated as probable causes of early-onset emphysema
PMID: 41224373
5
Reduced NAF1 expression correlates with aggressive colorectal cancer phenotypes and increased cancer risk
PMID: 36067202
6
NAF1 regulates HIV-1 latency by suppressing viral LTR-driven transcription in CD4+ T cells
PMID: 27795436
Disease Associationsβ“˜21
pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7Open Targets
0.57Moderate
neurodegenerative diseaseOpen Targets
0.52Moderate
dyskeratosis congenitaOpen Targets
0.46Moderate
minimally differentiated acute myeloblastic leukemiaOpen Targets
0.46Moderate
hypertensionOpen Targets
0.44Moderate
pulmonary fibrosisOpen Targets
0.39Weak
lung adenocarcinomaOpen Targets
0.36Weak
infectious diseaseOpen Targets
0.31Weak
PhlebitisOpen Targets
0.26Weak
ThrombophlebitisOpen Targets
0.26Weak
hidradenitisOpen Targets
0.26Weak
lysosomal storage diseaseOpen Targets
0.23Weak
dyshidrosisOpen Targets
0.20Weak
Alzheimer diseaseOpen Targets
0.20Weak
mathematical abilityOpen Targets
0.20Weak
response to xenobiotic stimulusOpen Targets
0.20Weak
familial hemolytic anemiaOpen Targets
0.19Weak
malunion fractureOpen Targets
0.19Weak
ovarian neoplasmOpen Targets
0.19Weak
placenta praeviaOpen Targets
0.19Weak
Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 7UniProt
Pathogenic Variants5
NM_138386.3(NAF1):c.1033+1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2019
NM_138386.3(NAF1):c.984dup (p.Ser329fs)Pathogenic
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7
β˜†β˜†β˜†β˜†2023β†’ Residue 329
NM_138386.3(NAF1):c.956_957del (p.Lys319fs)Pathogenic
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7
β˜†β˜†β˜†β˜†2023β†’ Residue 319
NM_138386.3(NAF1):c.1033+1G>ALikely pathogenic
not provided
β˜†β˜†β˜†β˜†2022
NM_138386.3(NAF1):c.691A>T (p.Lys231Ter)Likely pathogenic
not provided
β˜†β˜†β˜†β˜†2022β†’ Residue 231
View on ClinVar β†—
Related Genes
SNU13Protein interaction100%RRP9Protein interaction100%NOP56Protein interaction100%NOP58Protein interaction100%MPHOSPH10Protein interaction100%RSL1D1Protein interaction95%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
69%
Lung
51%
Heart
51%
Brain
45%
Liver
36%
Gene Interaction Network
Click a node to explore
NAF1SNU13RRP9NOP56NOP58MPHOSPH10RSL1D1
PROTEIN STRUCTURE
Preparing viewer…
PDB2EQN Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.93LoF Tolerant
pLIβ“˜
0.10Tolerant
Observed/Expected LoF0.49 [0.28–0.93]
RankingsWhere NAF1 stands among ~20K protein-coding genes
  • #6,485of 20,598
    Most Researched73
  • #3,550of 5,498
    Most Pathogenic Variants5
  • #8,533of 17,882
    Most Constrained (LOEUF)0.93
Genes detectedNAF1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
[Telomeres and lung].
PMID: 35715316
Rev Mal Respir Β· 2022
1.00
2
Colorectal cancer-associated SNP rs17042479 is involved in the regulation of NAF1 promoter activity.
PMID: 36067202
PLoS One Β· 2022
0.90
3
High frequency of alternative splicing of human genes participating in the HIV-1 life cycle: a model using TSG101, betaTrCP, PPIA, INI1, NAF1, and PML.
PMID: 14526201
J Acquir Immune Defic Syndr Β· 2003
0.80
4
Multiple splicing variants of Naf1/ABIN-1 transcripts and their alterations in hematopoietic tumors.
PMID: 17016622
Int J Mol Med Β· 2006
0.70
5
Mendelian causes of early-onset emphysema: a review of the current literature.
PMID: 41224373
Eur Respir Rev Β· 2025
0.60