Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	92345
Gene name	Nuclear assembly factor 1 ribonucleoprotein
Gene symbol	NAF1
Synonyms (NCBI Gene)	PFBMFT7
Chromosome	4
Chromosome location	4q32.2

Show/Hide all (22)

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

Show/Hide all (36)

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

MIM	HGNC	e!Ensembl
617868	25126	ENSG00000145414

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

Interactions

View interactions

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7	Pathogenic	rs753889327, rs2477172867	RCV003227582 RCV003227583

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial cancer of breast	Uncertain significance	rs1446711518	RCV005931430
NAF1-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs35063973, rs143001503, rs535175724, rs758438962, rs535309059, rs1203547269, rs1732493147, rs199804224, rs1553960622, rs370844754, rs1278724671, rs1385441348, rs1732474449, rs779729136, rs561225500	RCV003931352 RCV003923327 RCV003903754 RCV004754908 RCV004754910 RCV003406249 RCV003393114 RCV003418864 RCV003939080 RCV003893559 RCV003893778 RCV003893889 RCV003893922 RCV003912091 RCV003966849
Pulmonary fibrosis	Likely risk allele; Conflicting classifications of pathogenicity	rs1422984777, rs757340097, rs1414961716, rs755320741, rs1173387237	RCV002509771 RCV002509772 RCV002509789 RCV002509795 RCV002509799
Thymoma	Benign; Likely benign	rs201700729	RCV005922697

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Agricultural Workers' Diseases	Associate	32333749
Anthracosis	Associate	32333749
Arthritis Rheumatoid	Associate	12965196
Asthma	Associate	27439200
Autoimmune Diseases	Associate	26733199
Carcinoma Hepatocellular	Associate	30770154
Colorectal Neoplasms	Associate	36067202
Coronary Disease	Associate	36221106
Dyskeratosis Congenita	Associate	30728146
Esophageal Neoplasms	Associate	28454086
Fibrosis	Associate	32333749
HIV Infections	Associate	26733199, 27795436
Inflammation	Associate	26733199
Joint Diseases	Stimulate	12965196
Neoplasms	Associate	36067202
Neurodegenerative Diseases	Associate	20010695, 34547371
Pancreatic Neoplasms	Associate	29765509
Pneumoconiosis	Associate	32333749
Wolfram Syndrome 2	Associate	20010695

NAF1 (nuclear assembly factor 1 ribonucleoprotein)