NAF1 (nuclear assembly factor 1 ribonucleoprotein)

Gene

• Entrez ID: 92345
• Gene name: Nuclear assembly factor 1 ribonucleoprotein
• Gene symbol: NAF1
• Synonyms (NCBI Gene): PFBMFT7
• Chromosome: 4
• Chromosome location: 4q32.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT032447	hsa-let-7b-5p	Proteomics	18668040
MIRT040431	hsa-miR-615-3p	CLASH	23622248
MIRT1172979	hsa-miR-1297	CLIP-seq
MIRT1172980	hsa-miR-221	CLIP-seq
MIRT1172981	hsa-miR-222	CLIP-seq
MIRT1172982	hsa-miR-26a	CLIP-seq
MIRT1172983	hsa-miR-26b	CLIP-seq
MIRT1172984	hsa-miR-4465	CLIP-seq
MIRT1172985	hsa-miR-4672	CLIP-seq
MIRT1172986	hsa-miR-4717-3p	CLIP-seq
MIRT1172987	hsa-miR-548v	CLIP-seq
MIRT1172988	hsa-miR-562	CLIP-seq
MIRT1172989	hsa-miR-1252	CLIP-seq
MIRT1172990	hsa-miR-4729	CLIP-seq
MIRT2050120	hsa-miR-4252	CLIP-seq
MIRT2050121	hsa-miR-4766-3p	CLIP-seq
MIRT2279012	hsa-miR-198	CLIP-seq
MIRT2279013	hsa-miR-3680	CLIP-seq
MIRT2279014	hsa-miR-4418	CLIP-seq
MIRT2279015	hsa-miR-509-3-5p	CLIP-seq
MIRT2279016	hsa-miR-509-5p	CLIP-seq
MIRT2279017	hsa-miR-627	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000454	Process	SnoRNA guided rRNA pseudouridine synthesis	ISS
GO:0000493	Process	Box H/ACA snoRNP assembly	IBA
GO:0000493	Process	Box H/ACA snoRNP assembly	IEA
GO:0000493	Process	Box H/ACA snoRNP assembly	ISS
GO:0000493	Process	Box H/ACA snoRNP assembly	TAS	27510903
GO:0001522	Process	Pseudouridine synthesis	IEA
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003723	Function	RNA binding	IBA
GO:0003723	Function	RNA binding	IDA	16618814
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	IPI	18082603, 22527283
GO:0005515	Function	Protein binding	IPI	16601202, 16618814, 19179534, 25416956, 26496610, 28514442, 32296183, 33961781, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	27510903
GO:0005654	Component	Nucleoplasm	IDA
GO:0005732	Component	Sno(s)RNA-containing ribonucleoprotein complex	IBA
GO:0005732	Component	Sno(s)RNA-containing ribonucleoprotein complex	IDA	16601202, 17135485
GO:0005732	Component	Sno(s)RNA-containing ribonucleoprotein complex	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IMP	27510903
GO:0006364	Process	RRNA processing	IEA
GO:0022618	Process	Protein-RNA complex assembly	IEA
GO:0032212	Process	Positive regulation of telomere maintenance via telomerase	IMP	27510903
GO:0032212	Process	Positive regulation of telomere maintenance via telomerase	TAS	22527283
GO:0042254	Process	Ribosome biogenesis	IBA
GO:0042254	Process	Ribosome biogenesis	IDA	16618814
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0043489	Process	RNA stabilization	IEA
GO:0043489	Process	RNA stabilization	ISS
GO:0070034	Function	Telomerase RNA binding	IPI	18082603, 22527283
GO:0090669	Process	Telomerase RNA stabilization	IMP	27510903
GO:0090671	Process	Telomerase RNA localization to Cajal body	HMP	25467444
GO:1904358	Process	Positive regulation of telomere maintenance via telomere lengthening	IMP	27510903
GO:1905323	Process	Telomerase holoenzyme complex assembly	IMP	27510903
GO:1990904	Component	Ribonucleoprotein complex	IEA

Other IDs

• MIM: 617868
• HGNC: 25126
• e!Ensembl: ENSG00000145414

Protein

• UniProt ID: Q96HR8
• Protein name: H/ACA ribonucleoprotein complex non-core subunit NAF1 (hNAF1)
• Protein function: 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
• PDB: 2EQN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04410	Gar1	179 → 330	Gar1/Naf1 RNA binding region	Domain

• Sequence:

  MEVVEAAAAQLETLKFNGTDFGVGEGPAAPSPGSAPVPGTQPPLQSFEGSPDAGQTVEVK
  PAGEQPLQPVLNAVAAGTPAPQPQPPAESPACGDCVTSPGAAEPARAPDSLETSDSDSDS
  DSETDSDSSSSSSSSSSSSSSSSSSCISLPPVLSDGDDDLQIEKENKNFPLKTKDELLLN
  ELPSVEELTIILPEDIELKPLGMVSSIIEQLVIIESMTNLPPVNEETVIFKSDRQAAGKI
  FEIFGPVAHPFYVLRFNSSDHIESKGIKIKETMYFAPSMKDFTQYIFTEKLKQDKGSDAS
  WKNDQEPPPEALDFSDDEKEKEAKQRKKSQIQGRKKLKSEFNEPGEDFTEVHQNWNAHSS
  ASEHAKGYRNREFTRGFSRARYPRSCHGRPPPQHFYNSEHMVSQETSGFPSQRQNNPIMP
  QYPFPLPVFDMHNFPLRPPPPPPPPPVNMGWATPNMAAHPLLNLPYSLPPPPPPPPLPPP
  PSSGDSNSHFGPYY

• Sequence length: 494

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7	Pathogenic	rs753889327, rs2477172867	RCV003227582 RCV003227583	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELOPROLIFERATIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NAF1-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary fibrosis	Likely risk allele; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	17016622		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30325019		★☆☆☆☆ Found in Text Mining only
Anthracosis	Anterior uveitis	Pubtator	32333749	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	12965196	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	27439200	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	26733199	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23959881, 27621439, 30774867		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30770154	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36067202	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	36221106	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	24904205		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	12965196		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28426722		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28426722		★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis Congenita	BEFREE	20008900, 30728146		★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis Congenita	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis congenita	Pubtator	30728146	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	28454086		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	28454086		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	28454086	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30936423		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	17016622		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30770154		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23959881, 27621439, 30774867		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	28454086		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29765509, 30325019		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23959881		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	20010695, 34547371	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29765509, 30325019		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	29765509	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	27510903		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	12965196		★☆☆☆☆ Found in Text Mining only
Wolfram Syndrome 2	Wolfram syndrome	Pubtator	20010695	Associate	★☆☆☆☆ Found in Text Mining only