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    NHP2 NHP2 ribonucleoprotein [ Homo sapiens (human) ]

    Gene ID: 55651, updated on 5-May-2013
    Official Symbol
    NHP2provided by HGNC
    Official Full Name
    NHP2 ribonucleoproteinprovided by HGNC
    Primary source
    HGNC:14377
    Locus tag
    HSPC286
    See related
    Ensembl:ENSG00000145912; HPRD:07570; MIM:606470; Vega:OTTHUMG00000130886
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DKCB2; NHP2P; NOLA2
    Summary
    This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nhp2p. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]
    Location :
    5q35.3
    Sequence :
    Chromosome: 5; NC_000005.9 (177576464..177580961, complement)
    See NHP2 in Epigenomics, MapViewer

    Chromosome 5 - NC_000005.9Genomic Context describing neighboring genes Neighboring gene NEDD4 binding protein 3 Neighboring gene required for meiotic nuclear division 5 homolog B (S. cerevisiae) Neighboring gene apolipoprotein A-I binding protein pseudogene Neighboring gene germ cell-less, spermatogenesis associated 1 pseudogene 1

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. A catalogue of putative HIV-1 protease host cell substrates. Impens F, et al. Biol Chem, 2012 Sep. PMID 22944692.
    2. A census of human soluble protein complexes. Havugimana PC, et al. Cell, 2012 Aug 31. PMID 22939629.
    3. Integrative analysis of the ubiquitin proteome isolated using Tandem Ubiquitin Binding Entities (TUBEs). Lopitz-Otsoa F, et al. J Proteomics, 2012 Jun 6. PMID 22178446.
    4. Toward an understanding of the protein interaction network of the human liver. Wang J, et al. Mol Syst Biol, 2011 Oct 11. PMID 21988832.
    5. Global identification of modular cullin-RING ligase substrates. Emanuele MJ, et al. Cell, 2011 Oct 14. PMID 21963094.

    See all (35) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Effects of dyskeratosis congenita mutations in NHP2 on assembly of H/ACA pre-RNPs
      Title: Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs.
    2. The analysis of two other proteins, NHP2 and GAR1, that together with dyskerin and NOP10 are key components of telomerase and small nucleolar ribonucleoprotein (snoRNP) complexes, is described.
      Title: Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.
    4. NOLA2 expression in patients with squamous cell lung cancer increased by 70% which makes it a highly informative marker of squamous cell lung cancer
      Title: [The NOLA2 and RPS3A genes as highly informative markers for human squamous cell lung cancer].
    Submit: New GeneRIF Correction

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Protein Gene Interaction Pubs
    pol gag-pol Positional proteomics analysis identifies the cleavage of human NHP2 ribonucleoprotein homolog (yeast) (NHP2) at amino acid residues 27-28 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Protein Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:120783 BioGRID:120937 CAND1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120783 BioGRID:108080 DKC1    BioGRID  PubMed Affinity Capture-Western; Co-fractionation 
    BioGRID:120783 BioGRID:108621 FN1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120783 BioGRID:119949 GAR1    BioGRID  PubMed Co-fractionation 
    BioGRID:120783 BioGRID:114089 IKBKG    BioGRID  PubMed Reconstituted Complex 
    BioGRID:120783 BioGRID:115114 KIAA0101    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120783 BioGRID:110717 MYL2    BioGRID  PubMed Two-hybrid 
    BioGRID:120783 BioGRID:124938 NAF1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:120783 BioGRID:110811 NEDD4    BioGRID  PubMed Reconstituted Complex 
    BioGRID:120783 BioGRID:116915 NEDD4L    BioGRID  PubMed Reconstituted Complex 
    BioGRID:120783 BioGRID:119631 NOP58    BioGRID  PubMed Co-fractionation 
    BioGRID:120783 BioGRID:247522 Nedd4    BioGRID  PubMed Reconstituted Complex 
    BioGRID:120783 BioGRID:203509 Nhp2l1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120783 BioGRID:111606 PRNP    BioGRID  PubMed Reconstituted Complex 
    BioGRID:120783 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120783 BioGRID:112871 TERC    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:120783 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Reconstituted Complex 
    BioGRID:120783 BioGRID:121649 WDR48    BioGRID  PubMed Affinity Capture-MS 
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Chromosome Maintenance, organism-specific biosystem (from REACTOME)
      Chromosome Maintenance, organism-specific biosystemChromosome maintenance is critical for stable chromosome function in mammalian and other eukaryotic cells. Aspects of telomere maintenance and nucleosome assembly are covered here.
    • Extension of Telomeres, organism-specific biosystem (from REACTOME)
      Extension of Telomeres, organism-specific biosystemTelomerase acts as reverse transcriptase in the elongation of telomeres (Smogorzewska and de Lange 2004).
    • H/ACA ribonucleoprotein complex, organism-specific biosystem (from KEGG)
      H/ACA ribonucleoprotein complex, organism-specific biosystemStructural complex; Genetic information processing; RNA processing
    • Ribosome biogenesis in eukaryotes, organism-specific biosystem (from KEGG)
      Ribosome biogenesis in eukaryotes, organism-specific biosystemRibosomes are the cellular factories responsible for making proteins. In eukaryotes, ribosome biogenesis involves the production and correct assembly of four rRNAs and about 80 ribosomal proteins. It...
    • Ribosome biogenesis in eukaryotes, conserved biosystem (from KEGG)
      Ribosome biogenesis in eukaryotes, conserved biosystemRibosomes are the cellular factories responsible for making proteins. In eukaryotes, ribosome biogenesis involves the production and correct assembly of four rRNAs and about 80 ribosomal proteins. It...
    • Telomere Extension By Telomerase, organism-specific biosystem (from REACTOME)
      Telomere Extension By Telomerase, organism-specific biosystemHumans, like most eukaryotic organisms, add direct repeats to the telomere using a specialized DNA polymerase called telomerase. Telomerase is a ribonucleoprotein (RNP) complex minimally composed of...
    • Telomere Maintenance, organism-specific biosystem (from REACTOME)
      Telomere Maintenance, organism-specific biosystemTelomeres are protein-DNA complexes at the ends of linear chromosomes that are important for genome stability. Telomeric DNA in humans, as in many eukaryotic organisms, consists of tandem repeats (B...

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    snoRNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    rRNA pseudouridine synthesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    Cajal body IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    small nucleolar ribonucleoprotein complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Preferred Names
    H/ACA ribonucleoprotein complex subunit 2
    Names
    H/ACA ribonucleoprotein complex subunit 2
    NHP2-like protein
    snoRNP protein NHP2
    NHP2 ribonucleoprotein homolog
    nucleolar protein family A, member 2 (H/ACA small nucleolar RNPs)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011765.1 RefSeqGene

      Range
      5001..9498
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_346

    mRNA and Protein(s)

    1. NM_001034833.1 → NP_001030005.1  H/ACA ribonucleoprotein complex subunit 2 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting protein (isoform b) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AJ293309, BG827491, BM913344
      Consensus CDS
      CCDS34308.1
      UniProtKB/TrEMBL
      J3QSY4
      UniProtKB/Swiss-Prot
      Q9NX24
      Related
      ENSP00000366276, OTTHUMP00000223997, ENST00000314397, OTTHUMT00000373568
      Conserved Domains (1) summary
      cl00600
      Location:46 – 77
      Blast Score: 84
      Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family

    2. NM_017838.3 → NP_060308.1  H/ACA ribonucleoprotein complex subunit 2 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform a).
      Source sequence(s)
      AJ293309, BC000009, BE797477
      Consensus CDS
      CCDS4432.1
      UniProtKB/Swiss-Prot
      Q9NX24
      Related
      ENSP00000274606, OTTHUMP00000161486, ENST00000274606, OTTHUMT00000253471
      Conserved Domains (1) summary
      pfam01248
      Location:46 – 139
      Blast Score: 219
      Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000005.9 Reference GRCh37.p10 Primary Assembly

      Range
      177576464..177580961, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000137.1 Alternate HuRef

      Range
      172302433..172306930, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018916.1 Alternate CHM1_1.0

      Range
      177800487..177804984, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01009989.1 (4378..8875) None
    genomic AC136632.3 (140726..145223) None
    genomic AMYH01015938.1 (44815..49312) None
    genomic CH471165.2 EAW53848.1
    mRNA AF161404.1 AAF28964.1
    mRNA AF401217.1 AAL02173.1
    mRNA AF401219.1 AAL02175.1
    mRNA AJ293309.1 CAC08452.1
    mRNA AK000486.1 BAA91198.1
    mRNA BC000009.2 AAH00009.1
    mRNA BC006387.2 AAH06387.1
    mRNA BE797477.1 None
    mRNA BG827491.1 None
    mRNA BM913344.1 None
    mRNA CR457238.1 CAG33519.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NX24.1 GenPept UniProtKB/Swiss-Prot:Q9NX24

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
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      • BioAssays, RNAi Target,Active
        BioAssays, RNAi Target,Active
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • Books
        Links between Entrez Gene and 'Books' are established if a GeneID is explicitly referenced in a book.
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • GTR
        GTR associated with a gene
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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