Aliases for NAF1 Gene

Aliases for NAF1 Gene

  • Nuclear Assembly Factor 1 Ribonucleoprotein 2 3 5
  • H/ACA Ribonucleoprotein Complex Non-Core Subunit NAF1 3 4
  • Nuclear Assembly Factor 1 Homolog (S. Cerevisiae) 2
  • Nuclear Assembly Factor 1 Homolog 3
  • HNAF1 4
  • NAF1 5

External Ids for NAF1 Gene

Previous GeneCards Identifiers for NAF1 Gene

  • GC04M164270
  • GC04M164047
  • GC04M159801
  • GC04M163084

Summaries for NAF1 Gene

GeneCards Summary for NAF1 Gene

NAF1 (Nuclear Assembly Factor 1 Ribonucleoprotein) is a Protein Coding gene. Diseases associated with NAF1 include Dyskeratosis Congenita. Gene Ontology (GO) annotations related to this gene include RNA binding.

UniProtKB/Swiss-Prot Summary for NAF1 Gene

  • 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 NOLA1/GAR1 to yield mature H/ACA snoRNPs complex. Probably competes with NOLA1/GAR1 for binding with DKC1/NOLA4.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NAF1 Gene

Genomics for NAF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NAF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J163163 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 628.6 +1.1 1109 4 SP1 CREB1 PRDM10 ZNF629 RFX1 IKZF1 POLR2A RCOR2 ZHX2 JUND NAF1 NONHSAG039245.2 lnc-NPY1R-4 lnc-NPY5R-10 ENSG00000250027 piR-33303-132
GH04J163160 Enhancer 0.5 ENCODE 7.2 +5.3 5265 2.3 MNT EGR1 FOS ZFHX2 BHLHE40 EGR2 CHD1 NAF1 NONHSAG039245.2 lnc-NPY1R-4 piR-33303-132 FSTL5
GH04J163093 Promoter 0.3 Ensembl 6.2 +71.8 71809 3.4 MIR4454 piR-48950-154 piR-41245-211 ENSG00000250027 NAF1 piR-38129-082 FSTL5
GH04J163607 Enhancer 0.7 FANTOM5 ENCODE dbSUPER 2.2 -440.2 -440194 0.2 RUNX3 IKZF1 MARCHF1 NAF1 LOC107986325 ENSG00000273449 TMA16 ANP32C lnc-TKTL2-1
GH04J163571 Enhancer 0.2 FANTOM5 4.1 -404.3 -404254 0.2 TKTL2 MARCHF1 NAF1 ENSG00000273449 LOC107986325 TMA16 ANP32C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NAF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NAF1

Top Transcription factor binding sites by QIAGEN in the NAF1 gene promoter:
  • aMEF-2
  • AREB6
  • HFH-1
  • HSF1 (long)
  • HSF1short
  • MEF-2A
  • p300
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for NAF1 Gene

Genomic Locations for NAF1 Gene
chr4:163,109,133-163,166,910
(GRCh38/hg38)
Size:
57,778 bases
Orientation:
Minus strand
chr4:164,031,225-164,088,073
(GRCh37/hg19)
Size:
56,849 bases
Orientation:
Minus strand

Genomic View for NAF1 Gene

Genes around NAF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NAF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NAF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NAF1 Gene

Proteins for NAF1 Gene

  • Protein details for NAF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96HR8-NAF1_HUMAN
    Recommended name:
    H/ACA ribonucleoprotein complex non-core subunit NAF1
    Protein Accession:
    Q96HR8
    Secondary Accessions:
    • D3DP28
    • E9PAZ2

    Protein attributes for NAF1 Gene

    Size:
    494 amino acids
    Molecular mass:
    53717 Da
    Quaternary structure:
    • During assembly of the complex, component of the small nucleolar ribonucleoprotein particles containing H/ACA-type snoRNAs (H/ACA snoRNPs) which contains NOLA2/NHP2, NOLA3/NOP10, NAF1 and DKC1/NOLA4. Interacts directly with DKC1/NOLA4.

    Three dimensional structures from OCA and Proteopedia for NAF1 Gene

    Alternative splice isoforms for NAF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NAF1 Gene

Post-translational modifications for NAF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NAF1 Gene

No data available for DME Specific Peptides for NAF1 Gene

Domains & Families for NAF1 Gene

Gene Families for NAF1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NAF1 Gene

Suggested Antigen Peptide Sequences for NAF1 Gene

GenScript: Design optimal peptide antigens:
  • TNFAIP3 interacting protein 1, isoform CRA_a (A4F1W8_HUMAN)
  • TNFAIP3 interacting protein 1, isoform CRA_c (A4F1W9_HUMAN)
  • Nef-associated factor 1 isoform 6 (A4F1X2_HUMAN)
  • Nef-associated factor 1 isoform 7 (A4F1X4_HUMAN)
  • Nef-associated factor 1 isoform 8 (A4F1X5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96HR8

UniProtKB/Swiss-Prot:

NAF1_HUMAN :
  • Belongs to the NAF1 family.
Family:
  • Belongs to the NAF1 family.
genes like me logo Genes that share domains with NAF1: view

Function for NAF1 Gene

Molecular function for NAF1 Gene

UniProtKB/Swiss-Prot 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 NOLA1/GAR1 to yield mature H/ACA snoRNPs complex. Probably competes with NOLA1/GAR1 for binding with DKC1/NOLA4.

Phenotypes From GWAS Catalog for NAF1 Gene

Gene Ontology (GO) - Molecular Function for NAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IPI 18082603
GO:0005515 protein binding IPI 16601202
GO:0070034 telomerase RNA binding IPI 18082603
genes like me logo Genes that share ontologies with NAF1: view

Phenotypes for NAF1 Gene

genes like me logo Genes that share phenotypes with NAF1: view

Animal Model Products

CRISPR Products

miRNA for NAF1 Gene

miRTarBase miRNAs that target NAF1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NAF1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NAF1 Gene

Localization for NAF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NAF1 Gene

Cytoplasm. Nucleus. Note=Shuttles between the cytoplasm and the nucleus. Absent from the nucleolus (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NAF1 gene
Compartment Confidence
nucleus 5
cytosol 1
extracellular 0
cytoskeleton 0
mitochondrion 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IEA --
GO:0005732 small nucleolar ribonucleoprotein complex IBA,IDA 16601202
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NAF1: view

Pathways & Interactions for NAF1 Gene

PathCards logo

SuperPathways for NAF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000454 snoRNA guided rRNA pseudouridine synthesis ISS --
GO:0000493 box H/ACA snoRNP assembly TAS 27510903
GO:0001522 pseudouridine synthesis IEA --
GO:0006364 rRNA processing IEA --
GO:0032212 positive regulation of telomere maintenance via telomerase TAS 22527283
genes like me logo Genes that share ontologies with NAF1: view

No data available for Pathways by source and SIGNOR curated interactions for NAF1 Gene

Drugs & Compounds for NAF1 Gene

No Compound Related Data Available

Transcripts for NAF1 Gene

mRNA/cDNA for NAF1 Gene

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NAF1

Alternative Splicing Database (ASD) splice patterns (SP) for NAF1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: - - -
SP2: - -
SP3:
SP4:

Relevant External Links for NAF1 Gene

GeneLoc Exon Structure for
NAF1

Expression for NAF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NAF1 Gene

Protein differential expression in normal tissues from HIPED for NAF1 Gene

This gene is overexpressed in Lung (26.1), CD4 Tcells (11.6), Testis (8.6), and Fetal ovary (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NAF1 Gene



Protein tissue co-expression partners for NAF1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NAF1

SOURCE GeneReport for Unigene cluster for NAF1 Gene:

Hs.129095

Evidence on tissue expression from TISSUES for NAF1 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with NAF1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NAF1 Gene

Orthologs for NAF1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NAF1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NAF1 30 31
  • 99.26 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NAF1 30 31
  • 89.05 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Naf1 30 17 31
  • 84.1 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Naf1 30
  • 78.26 (n)
Cow
(Bos Taurus)
Mammalia NAF1 30 31
  • 76 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia NAF1 31
  • 64 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NAF1 31
  • 34 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NAF1 31
  • 47 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NAF1 31
  • 68 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.25832 30
Zebrafish
(Danio rerio)
Actinopterygii naf1 31
  • 34 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG10341 31
  • 22 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NAF1 31
  • 21 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 30 (a)
OneToOne
Species where no ortholog for NAF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for NAF1 Gene

ENSEMBL:
Gene Tree for NAF1 (if available)
TreeFam:
Gene Tree for NAF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NAF1: view image

Paralogs for NAF1 Gene

(2) SIMAP similar genes for NAF1 Gene using alignment to 13 proteins:

  • NAF1_HUMAN
  • A4F1W8_HUMAN
  • A4F1W9_HUMAN
  • A4F1X2_HUMAN
  • A4F1X4_HUMAN
  • A4F1X5_HUMAN
  • A4F1X6_HUMAN
  • A4F1X7_HUMAN
  • A4F1X9_HUMAN
  • A4F1Y0_HUMAN
  • D6RIB3_HUMAN
  • Q05KP3_HUMAN
  • Q05KP4_HUMAN
genes like me logo Genes that share paralogs with NAF1: view

No data available for Paralogs for NAF1 Gene

Variants for NAF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NAF1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs12331663 - p.Pro43Ser
rs4691896 - p.Ile162Val

Additional dbSNP identifiers (rs#s) for NAF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NAF1 Gene

Variant ID Type Subtype PubMed ID
esv2469391 CNV deletion 19546169
esv2664805 CNV deletion 23128226
esv2728663 CNV deletion 23290073
esv3307523 CNV mobile element insertion 20981092
esv3391851 CNV insertion 20981092
esv3894064 CNV gain 25118596
nsv1015505 CNV gain 25217958
nsv1030184 CNV loss 25217958
nsv1074766 CNV deletion 25765185
nsv289298 CNV deletion 16902084
nsv4585 CNV deletion 18451855
nsv822811 CNV gain 20364138

Variation tolerance for NAF1 Gene

Residual Variation Intolerance Score: 43.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.81; 47.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NAF1 Gene

Human Gene Mutation Database (HGMD)
NAF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NAF1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NAF1 Gene

Disorders for NAF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NAF1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
dyskeratosis congenita
  • zinsser-cole-engman syndrome
- elite association - COSMIC cancer census association via MalaCards
Search NAF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NAF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with NAF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NAF1 Gene

Publications for NAF1 Gene

  1. hNaf1 is required for accumulation of human box H/ACA snoRNPs, scaRNPs, and telomerase. (PMID: 16601202) Hoareau-Aveilla C … Henry Y (RNA (New York, N.Y.) 2006) 2 3 4
  2. Stepwise RNP assembly at the site of H/ACA RNA transcription in human cells. (PMID: 16618814) Darzacq X … Meier UT (The Journal of cell biology 2006) 2 3 4
  3. Analysis of copy number variation in 8,842 Korean individuals reveals 39 genes associated with hepatic biomarkers AST and ALT. (PMID: 20797317) Kim HY … Kim H (BMB reports 2010) 3 41
  4. Common variants in the trichohyalin gene are associated with straight hair in Europeans. (PMID: 19896111) Medland SE … Martin NG (American journal of human genetics 2009) 3 41
  5. Dynamic association and localization of human H/ACA RNP proteins. (PMID: 17135485) Kittur N … Meier UT (RNA (New York, N.Y.) 2006) 3 4

Products for NAF1 Gene

  • Signalway ELISA kits for NAF1

Sources for NAF1 Gene