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Aliases for NAF1 Gene

Aliases for NAF1 Gene

  • Nuclear Assembly Factor 1 Ribonucleoprotein 2 3 5
  • Nuclear Assembly Factor 1 Homolog (S. Cerevisiae) 2
  • HNAF1 4

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. GO annotations related to this gene include poly(A) RNA binding and RNA binding.

UniProtKB/Swiss-Prot 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 , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NAF1 Gene

Genomics for NAF1 Gene

Regulatory Elements for NAF1 Gene

Enhancers for NAF1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NAF1 on UCSC Golden Path with GeneCards custom track

Promoters for NAF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NAF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for NAF1 Gene

Chromosome:
4
Start:
163,109,133 bp from pter
End:
163,166,921 bp from pter
Size:
57,789 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

Proteomics data for NAF1 Gene at MOPED

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

Protein Domains for NAF1 Gene

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

No data available for Gene Families for NAF1 Gene

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.

Gene Ontology (GO) - Molecular Function for NAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044822 poly(A) RNA binding IDA 22681889
GO:0070034 telomerase RNA binding IPI 18082603
genes like me logo Genes that share ontologies with NAF1: view

Phenotypes for NAF1 Gene

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

Animal Model Products

miRNA for NAF1 Gene

miRTarBase miRNAs that target 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
Jensen Localization Image for NAF1 Gene COMPARTMENTS Subcellular localization image for NAF1 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1
extracellular 1
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for NAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
genes like me logo Genes that share ontologies with NAF1: view

Pathways & Interactions for NAF1 Gene

SuperPathways for NAF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006364 rRNA processing IEA --
GO:1904874 positive regulation of telomerase RNA localization to Cajal body IMP 25467444
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

Unigene Clusters for NAF1 Gene

Nuclear assembly factor 1 ribonucleoprotein:
Representative Sequences:

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
ECgene alternative splicing isoforms for
NAF1

Expression for NAF1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for NAF1 Gene



SOURCE GeneReport for Unigene cluster for NAF1 Gene Hs.129095

genes like me logo Genes that share expression patterns with NAF1: view

Protein tissue co-expression partners for NAF1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia NAF1 35
NAF1 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NAF1 35
  • 89.05 (n)
  • 85.88 (a)
NAF1 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Naf1 35
  • 84.1 (n)
  • 82.18 (a)
Naf1 16
Naf1 36
  • 59 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NAF1 35
  • 99.26 (n)
  • 98.99 (a)
NAF1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Naf1 35
  • 78.26 (n)
  • 78.34 (a)
oppossum
(Monodelphis domestica)
Mammalia NAF1 36
  • 34 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NAF1 36
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves NAF1 36
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NAF1 36
  • 68 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.25832 35
zebrafish
(Danio rerio)
Actinopterygii naf1 36
  • 34 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10341 36
  • 22 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NAF1 36
  • 21 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
OneToOne
Species with no ortholog for NAF1:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for NAF1 Gene

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 from dbSNP and Humsavar for NAF1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs12331663 - 163,166,601(+) TAGCG(A/G)CGGCT nc-transcript-variant, reference, missense
rs4691896 - 163,164,273(+) CTCAA(C/T)TTGTA nc-transcript-variant, reference, missense, utr-variant-5-prime
rs4017 -- 163,142,947(+) GATTC(C/T)GGAAC intron-variant
rs4023 -- 163,143,038(+) TAGCA(C/T)CTGAG intron-variant
rs1133769 -- 163,124,552(-) ttttt(C/T)ttgta intron-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv4585 CNV Loss 18451855
esv2469391 CNV Deletion 19546169
esv2664805 CNV Deletion 23128226
esv2728663 CNV Deletion 23290073
nsv289298 CNV Loss 16902084
esv271797 CNV Insertion 20981092
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)

Relevant External Links for NAF1 Gene

HapMap Linkage Disequilibrium report
NAF1

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: GeneCards

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

Relevant External Links for NAF1

Genetic Association Database (GAD)
NAF1
Human Genome Epidemiology (HuGE) Navigator
NAF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NAF1
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 2006) 2 3 4 67
  2. Stepwise RNP assembly at the site of H/ACA RNA transcription in human cells. (PMID: 16618814) Darzacq X. … Meier U.T. (J. Cell Biol. 2006) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for NAF1 Gene

Sources for NAF1 Gene

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