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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NAF1 Gene

protein-coding   GIFtS: 47
GCID: GC04M164047

nuclear assembly factor 1 homolog (S. cerevisiae)

 Explore 4 diseases affiliated with
NAF1 via our new
 Human Malady Compendium 
Biological research products
for NAF1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Nuclear Assembly Factor 1 Homolog (S. Cerevisiae)1 2
H/ACA Ribonucleoprotein Complex Non-Core Subunit NAF12
HNAF11
KIAA01135
TNIP15

External Ids:    HGNC: 251261   Entrez Gene: 923452   Ensembl: ENSG000001454147   OMIM: 6077145   UniProtKB: Q96HR83   

Export aliases for NAF1 gene to outside databases

Previous GC identifers: GC04M164270 GC04M159801


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: NAF1_HUMAN, Q96HR8
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NAF1 gene promoter:
         STAT1   p300   STAT1beta   HSF1 (long)   STAT1alpha   MEF-2A   AREB6   HFH-1   HSF1short   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNAF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NAF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NAF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q32.2   Ensembl cytogenetic band:  4q32.2   HGNC cytogenetic band: 4q32.2

NAF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NAF1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M164047:  view genomic region     (about GC identifiers)

Start:
164,031,225 bp from pter      End:
164,088,073 bp from pter
Size:
56,849 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NAF1_HUMAN, Q96HR8 (See protein sequence)
Recommended Name: H/ACA ribonucleoprotein complex non-core subunit NAF1  
Size: 494 amino acids; 53717 Da
Subunit: 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
Subcellular location: Cytoplasm. Nucleus. Note=Shuttles between the cytoplasm and the nucleus. Absent from the
nucleolus (By similarity)
1 PDB 3D structure from and Proteopedia for NAF1:
2EQN (3D)    
Secondary accessions: D3DP28 E9PAZ2
Alternative splicing: 2 isoforms:  Q96HR8-1   Q96HR8-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NAF1: NX_Q96HR8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96HR8

  • NAF1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001122403.1  NP_612395.2  

    ENSEMBL proteins: 
     ENSP00000427518   ENSP00000408963   ENSP00000274054  

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    Uscn Proteins for NAF1

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005732small nucleolar ribonucleoprotein complex IDA17135485
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome IDA--
    GO:0030054cell junction IDA--


    NAF1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    NAF1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR007504 H/ACA_rnp_Gar1/Naf1
     IPR009000 Transl_elong_init/rib_B-barrel

    Graphical View of Domain Structure for InterPro Entry Q96HR8

    ProtoNet protein and cluster: Q96HR8

    UniProtKB/Swiss-Prot: NAF1_HUMAN, Q96HR8
    Similarity: Belongs to the NAF1 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: NAF1_HUMAN, Q96HR8
    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

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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IDA16618814
    GO:0005515protein binding IPI16601202
    GO:0030515snoRNA binding IEA--


    NAF1 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NAF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/17 Interacting proteins for NAF1 (Q96HR82, 3 ENSP000002740544) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BCL2P104152, 3, ENSP000003296234MINT-7712862 MINT-7717145 I2D: score=1 STRING: ENSP00000329623
    BADQ929342, 3, ENSP000003091034MINT-7717137 I2D: score=1 STRING: ENSP00000309103
    CANXP278242, 3, ENSP000002474614MINT-7712875 I2D: score=1 STRING: ENSP00000247461
    CYCSP999992, 3, ENSP000003077864MINT-7712884 I2D: score=1 STRING: ENSP00000307786
    WDR48Q8TAF33, ENSP000003074914I2D: score=2 STRING: ENSP00000307491
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006364rRNA processing IEA--
    GO:0031120snRNA pseudouridine synthesis IEA--
    GO:0042254ribosome biogenesis IDA16618814


    NAF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NAF1
    Search CenterWatch for drugs/clinical trials and news about NAF1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NAF1 gene (2 alternative transcripts): 
    NM_001128931.1  NM_138386.2  

    Unigene Cluster for NAF1:

    Nuclear assembly factor 1 homolog (S. cerevisiae)
    Hs.129095  [show with all ESTs]
    Unigene Representative Sequence: AK097352
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000509434 ENST00000422287(uc010iqw.1) ENST00000274054(uc003iqj.3)
    ENST00000509884 ENST00000509232 ENST00000502973

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    Inhib. RNA
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    Additional cDNA sequence: 

    AK097352.1 AK308601.1 BC008207.1 

    4 DOTS entries:

    DT.406805  DT.100020829  DT.101961616  DT.99974448 

    24/49 AceView cDNA sequences (see all 49):

    CR611986 AI923378 AK126037 AI886391 BX103045 CR622366 AK097352 CF128149 
    BX096010 AA321245 BX107765 AW469161 NM_138386 BX383358 BI869579 BM463276 
    BX508033 AI652820 BF110552 CD385920 AI452422 BC008207 BG673991 AL559696 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for NAF1    About this scheme

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


    ECgene alternative splicing isoforms for NAF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NAF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See NAF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NAF1

    SOURCE GeneReport for Unigene cluster: Hs.129095
        SABiosciences Custom PCR Arrays for NAF1
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NAF1 gene from 8/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Naf11 , 5 nuclear assembly factor 1 homolog (S. cerevisiae)1, 5 79.22(n)1
    76.62(a)1
      8 (33.18 cM)5
    2343441  NM_001163564.11  NP_001157036.11 
     668602175 
    chicken
    (Gallus gallus)
    Aves NAF11 nuclear assembly factor 1 homolog (S. cerevisiae) 64.22(n)
    54.52(a)
      769997  XM_001233312.1  XP_001233313.1 
    lizard
    (Anolis carolinensis)
    Reptilia NAF16
    --
    67(a)
    1 ↔ 1
    5(126231086-126237336)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.258322 Xenopus laevis transcribed sequence with weak similarity more 75.69(n)    BG413749.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AI657832.12   -- 73.28(n)    AI657832.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG103416
    --
    18(a)
    1 ↔ 1
    2L(18698719-18700645)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATNAF16
    nuclear assembly factor 1
    11(a)
    1 ↔ 1
    1(880496-883391)
    rice
    (Oryza sativa)
    Liliopsida --
    NAF1 domain containing protein, expressed
    13(a)
    1 ↔ 1
    5(24675996-24679972)


    ENSEMBL Gene Tree for NAF1 (if available)
    TreeFam Gene Tree for NAF1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for NAF1
         5 CNVs: 92513 80548 80547 98943 80549
         1 Indel: 12575
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    NAF1 for disorders           About GeneDecksing

    OMIM gene information: 607714    OMIM disorders: --

    4 diseases for NAF1:    About MalaCards
    papillon-lefevre disease    dyskeratosis congenita    dyskeratosis    hepatitis

    Human Genome Epidemiology (HuGE) Navigator: NAF1 (15 documents)

    Export disorders for NAF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NAF1 gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with NAF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. hNaf1 is required for accumulation of human box H/ACA snoRNPs, scaRNPs, and telomerase. (PubMed id 16601202)1, 2, 3 Hoareau-Aveilla C....Henry Y. (2006)
    2. Stepwise RNP assembly at the site of H/ACA RNA transcription in human cells. (PubMed id 16618814)1, 2, 3 Darzacq X.... Meier U.T. (2006)
    3. Dynamic association and localization of human H/ACA RNP proteins. (PubMed id 17135485)1, 2 Kittur N....Meier U.T. (2006)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Targeted ubiquitination and degradation of G-protein-c oupled receptor kinase 5 by the DDB1-CUL4 ubiquitin ligase complex. (PubMed id 22952844)1 Wu Z....Ma L. (2012)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    7. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 92345 HGNC: 25126 AceView: LOC92345 Ensembl:ENSG00000145414 euGenes: HUgn92345
    ECgene: NAF1 H-InvDB: NAF1

    (According to HUGE)
    About This Section
    HUGE: KIAA0113

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NAF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NAF1 gene:
    Search GeneIP for patents involving NAF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
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