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NHP2L1 Gene

protein-coding   GIFtS: 66
GCID: GC22M042069

NHP2 Non-Histone Chromosome Protein 2-Like 1 (S. Cerevisiae)

(Previous names: non-histone chromosome protein 2 (S. cerevisiae)-like 1,...)
(Previous symbol: SSFA1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
NHP2 Non-Histone Chromosome Protein 2-Like 1 (S. Cerevisiae)1 2     FA12
SSFA11 2     NHPX2
Sperm Specific Antigen 11 2     SNRNP15-52
Small Nuclear Ribonucleoprotein 15.5kDa (U4/U6.U5)1 2     SNU132
High Mobility Group-Like Nuclear Protein 2 Homolog 12 3     SPAG122
OTK272 3     [U4/U6.U5] Tri-SnRNP 15.5 KD RNA Binding Protein2
U4/U6.U5 Tri-SnRNP 15.5 KDa Protein2 3     NHP2-Like Protein 12
Non-Histone Chromosome Protein 2 (S. Cerevisiae)-Like 11     Non-Histone Chromosome Protein 2-Like 12
15.5K2     hSNU133
FA-12     SNU13 Homolog3

External Ids:    HGNC: 78191   Entrez Gene: 48092   Ensembl: ENSG000001001387   OMIM: 6013045   UniProtKB: P557693   

Export aliases for NHP2L1 gene to outside databases

Previous GC identifers: GC22M038684 GC22M040312 GC22M040394 GC22M025035


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NHP2L1 Gene:
Originally named because of its sequence similarity to the Saccharomyces cerevisiae NHP2 (non-histone protein 2),
this protein appears to be a highly conserved nuclear protein that is a component of the (U4/U6.U5) tri-snRNP. It
binds to the 5' stem-loop of U4 snRNA. Two transcript variants encoding the same protein have been found for this
gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for NHP2L1 Gene:
NHP2L1 (NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)) is a protein-coding gene. Diseases associated with NHP2L1 include japanese encephalitis, and treacher collins syndrome. GO annotations related to this gene include snoRNA binding and RNA binding.

UniProtKB/Swiss-Prot: NH2L1_HUMAN, P55769
Function: Binds to the 5'-stem-loop of U4 snRNA and may play a role in the late stage of spliceosome assembly. The
protein undergoes a conformational change upon RNA-binding

Gene Wiki entry for NHP2L1 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000022.11  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NHP2L1 gene promoter:
         STAT1   AML1a   HSF1 (long)   HSF1short   CUTL1   GATA-2   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): NHP2L1 promoter sequence
   Search Chromatin IP Primers for NHP2L1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NHP2L1


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

Entrez Gene cytogenetic band: 22q13   Ensembl cytogenetic band:  22q13.2   HGNC cytogenetic band: 22q13

NHP2L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NHP2L1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M042069:  view genomic region     (about GC identifiers)

Start:
42,069,934 bp from pter      End:
42,086,508 bp from pter
Size:
16,575 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NH2L1_HUMAN, P55769 (See protein sequence)
Recommended Name: NHP2-like protein 1  
Size: 128 amino acids; 14174 Da
Subunit: Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3,
PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, WDR57, SNRNP40, DDX23, CD2BP2, PPIH, NHP2L1, EFTUD2, SART1 and
USP39. Interacts with RAD17 and PRPF31
5 PDB 3D structures from and Proteopedia for NHP2L1:
1E7K (3D)        2JNB (3D)        2OZB (3D)        3SIU (3D)        3SIV (3D)    

Explore the universe of human proteins at neXtProt for NHP2L1: NX_P55769

Explore proteomics data for NHP2L1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys9, Lys21, Lys33, Lys113
  • Modification sites at PhosphoSitePlus

  • See NHP2L1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001003796.1  NP_004999.1  

    ENSEMBL proteins: 
     ENSP00000347401   ENSP00000215956   ENSP00000383949   ENSP00000383989  
    Reactome Protein details: P55769

    NHP2L1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR004038 Ribosomal_L7Ae/L30e/S12e/Gad45
     IPR018492 Ribosomal_L7Ae/L8/Nhp2
     IPR004037 Ribosomal_L7Ae_CS
     IPR002415 H/ACA_rnp_Nhp2_euk

    Graphical View of Domain Structure for InterPro Entry P55769

    ProtoNet protein and cluster: P55769

    2 Blocks protein domains:
    IPB002415 High mobility group-like nuclear protein signature
    IPB004038 Ribosomal protein L7Ae/L30e/S12e/Gadd45


    UniProtKB/Swiss-Prot: NH2L1_HUMAN, P55769
    Similarity: Belongs to the ribosomal protein L7Ae family


    NHP2L1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NH2L1_HUMAN, P55769
    Function: Binds to the 5'-stem-loop of U4 snRNA and may play a role in the late stage of spliceosome assembly. The
    protein undergoes a conformational change upon RNA-binding

         Genatlas biochemistry entry for NHP2L1:
    yeast nuclear protein NHP2 homolog

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding TAS10593953
    GO:0005515protein binding IPI17412961
    GO:0030515contributes to snoRNA binding IDA17636026
    GO:0044822poly(A) RNA binding IDA--
         
    NHP2L1 for ontologies           About GeneDecksing


    Phenotypes:
         9 GenomeRNAi human phenotypes for NHP2L1:
     Cell cycle / mitosis defect  Decreased cell number, increas  Decreased homologous recombina  Decreased influenza A virus in 
     Decreased number of cells in m  Decreased viability  Decreased viability of wild-ty  Increased gamma-H2AX phosphory 
     Increased number of mitotic ce 

    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target NHP2L1:
    hsa-mir-92a-3p (MIRT049439), hsa-mir-23b-3p (MIRT046317), kshv-mir-k12-3-5p (MIRT005469)

    Block miRNA regulation of human, mouse, rat NHP2L1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate NHP2L1:
    hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidNHP2L1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NHP2L1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NH2L1_HUMAN, P55769: Nucleus, nucleolus. Note=Concentrated in the dense fibrillar component of the nucleolus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus TAS8978773
    GO:0005654nucleoplasm TAS--
    GO:0005681spliceosomal complex IEA--
    GO:0005730nucleolus TAS10593953
    GO:0030529ribonucleoprotein complex ----

    NHP2L1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for NHP2L1 About    
    See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    mRNA Splicing - Major Pathway0.78
    mRNA Splicing0.78
    Processing of Capped Intron-Containing Pre-mRNA0.78
    mRNA Splicing - Minor Pathway0.38
    2Gene Expression
    Gene Expression0.40
    3Spliceosome
    Spliceosome
    4Ribosome biogenesis in eukaryotes
    Ribosome biogenesis in eukaryotes

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for NHP2L1
        mRNA Splicing - Major Pathway
    mRNA Splicing - Minor Pathway


    2 Kegg Pathways  (Kegg details for NHP2L1):
        Ribosome biogenesis in eukaryotes
    Spliceosome


    NHP2L1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NHP2L1
    Interactions:

        GeneGlobe Interaction Network for NHP2L1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NHP2L1 (P557691, 2, 3 ENSP000002159564) via UniProtKB, MINT, STRING, and/or I2D (see all 478)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0008380RNA splicing TAS--
    GO:0010467gene expression TAS--
    GO:0042254ribosome biogenesis IEA--

    NHP2L1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NHP2L1 (NH2L1)

    3 DrugBank Compounds for NHP2L1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ANISOMYCIN-- --target--10592235
    Alpha-Hydroxy-Beta-Phenyl-Propionic Acid-- --target--10592235
    PUROMYCIN-- --target--10592235



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NHP2L1 gene (2 alternative transcripts): 
    NM_001003796.1  NM_005008.3  

    Unigene Cluster for NHP2L1:

    NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)
    Hs.182255  [show with all ESTs]
    Unigene Representative Sequence: AK124020
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000355257(uc003bav.3) ENST00000215956(uc003bat.3) ENST00000401959
    ENST00000463675 ENST00000402458 ENST00000488571 ENST00000469028 ENST00000469522

    miRNA
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    Block miRNA regulation of human, mouse, rat NHP2L1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate NHP2L1:
    hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidNHP2L1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for NHP2L1
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      QuantiTect SYBR Green Assays in human, mouse, rat NHP2L1
      QuantiFast Probe-based Assays in human, mouse, rat NHP2L1

    Additional mRNA sequence: 

    AF091076.1 AF155235.1 AK124020.1 AK311800.1 BC005358.1 BC019282.2 BC095439.1 CR456531.1 
    CR541725.1 D50420.1 L34070.1 L34071.1 

    Selected DOTS entries (see all 35):

    DT.101969816  DT.450040  DT.99926576  DT.100738287  DT.86854047  DT.100738300  DT.91694644  DT.100738330 
    DT.100738328  DT.92455696  DT.100738297  DT.95159246  DT.100858215  DT.40124416  DT.120652701  DT.120652656 
    DT.91713952  DT.97844043  DT.100681061  DT.100856292  DT.95159128  DT.99925511  DT.120652644  DT.120652645 

    Selected AceView cDNA sequences (see all 1011):

    BM913483 CB113522 BM913292 BE385310 BQ056798 Z41235 CR605954 CB109509 
    BI494167 AA399235 CR593383 CR591470 AI123876 CR600974 CB108345 BU150372 
    CB148411 AI066524 AI288205 CB129791 CB109418 CD671704 AA399606 AI491752 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NHP2L1 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d
    SP1:                    -     -     -                 -                                       
    SP2:                                                                                          
    SP3:                    -     -     -     -     -     -                                       
    SP4:                          -     -                 -                                       
    SP5:                                -     -     -     -                                       


    ECgene alternative splicing isoforms for NHP2L1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NHP2L1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGTATTTTC
    NHP2L1 Expression
    About this image


    NHP2L1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Colon (Gastrointestinal Tract)
     
     Kidney (Urinary System)
     
     Uterus (Reproductive System)
    NHP2L1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NHP2L1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.182255

    UniProtKB/Swiss-Prot: NH2L1_HUMAN, P55769
    Tissue specificity: Ubiquitous

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NHP2L1

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NHP2L1 gene from Selected species (see all 30)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nhp2l11 , 5 NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)1, 5 89.84(n)1
    100(a)1
      15 (38.38 cM)5
    208261  NM_011482.41  NP_035612.21 
     820413195 
    chicken
    (Gallus gallus)
    Aves NHP2L11 NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) 79.27(n)
    92.91(a)
      417986  XM_416225.4  XP_416225.3 
    lizard
    (Anolis carolinensis)
    Reptilia NHP2L16
    NHP2 non-histone chromosome protein 2-like 1 (S. c...
    87(a)
    1 ↔ 1
    5(26637904-26642298)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480577342   -- 78.25(n)    48057734 
    zebrafish
    (Danio rerio)
    Actinopterygii BC046034.12   -- 78.87(n)   321114  BC046034.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta hoip1 , 3 mRNA splicing RNA binding3
    hoi-polloi1
    78(a)3
    72.44(n)1
    78.74(a)1
      30C53
    441731  NM_001273364.11  NP_001260293.11 
    worm
    (Caenorhabditis elegans)
    Secernentea M28.51 , 3 ribosomal protein (L7AE family)3
    M28.51
    77(a)3
    70.83(n)1
    77.34(a)1
      II(10657966-10658773)3
    1746451  NM_063899.51  NP_496300.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SNU13(YEL026W)4
    SNU131
    RNA binding protein, part of U3 snoRNP involved in more4
    SNU131
    63.66(n)1
    71.31(a)1
      5(101943-102323)4
    8566871, 4  NP_010888.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G201601 AT5G20160 68.23(n)
    78.12(a)
      832138  NM_180525.2  NP_850856.1 
    rice
    (Oryza sativa)
    Liliopsida Os.127552 Transcribed sequence with strong similarity to protein more 74.05(n)    AU069238.1 


    ENSEMBL Gene Tree for NHP2L1 (if available)
    TreeFam Gene Tree for NHP2L1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NHP2L1 gene
    1 SIMAP similar gene for NHP2L1 using alignment to 3 protein entries:     NH2L1_HUMAN (see all proteins):
    NHP2

    NHP2L1 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for NHP2L1 (see all 8)
    PGOHUM00000239962 PGOHUM00000244988 PGOHUM00000244993 PGOHUM00000235321 PGOHUM00000263259


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for NHP2L1 (see all 270)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1157087991,2
    C,F--42069459(+) TAAGAC/TGACAT 2 -- ds5001 int11Minor allele frequency- T:0.25WA 118
    rs1854760741,2
    --42069513(+) TCTTCA/CATAGC 2 -- ds5001 int10--------
    rs751137771,2
    C,F--42069555(+) CAGGCG/ATGGTG 2 -- ds5001 int11Minor allele frequency- A:0.50WA 2
    rs1892463631,2
    --42069615(+) CCTGAA/GGTCAG 2 -- ds5001 int10--------
    rs1928857911,2
    --42069689(+) TGGGCA/GTGGTG 2 -- ds5001 int10--------
    rs1489511041,2
    --42069696(+) GGTGAC/TGCACG 2 -- ds5001 int10--------
    rs1437254191,2
    C--42069710(+) GTAATC/TCCAGC 2 -- ds5001 int10--------
    rs1476144101,2
    --42069743(+) GCATCA/CCTTGA 2 -- ds5001 int10--------
    rs18025191,2
    C,F--42070000(-) GGAGAG/CTGCTA 2 -- ut318Minor allele frequency- C:0.02MN CSA WA 530
    rs18025201,2
    C--42070119(-) AGGAAA/C/GCAGCC 4 -- ut310--------

    HapMap Linkage Disequilibrium report for NHP2L1 (42069934 - 42086508 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for NHP2L1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv915155CNV Loss21882294
    nsv834209CNV Loss17160897
    nsv524585CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NHP2L1
    DNA2.0 Custom Variant and Variant Library Synthesis for NHP2L1

    (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.)
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    OMIM gene information: 601304    OMIM disorders: --

    4 diseases for NHP2L1:    
    About MalaCards
    japanese encephalitis    treacher collins syndrome    encephalitis    malaria


    NHP2L1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NHP2L1
    Human Genome Epidemiology (HuGE) Navigator: NHP2L1 (1 document)

    Export disorders for NHP2L1 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)
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    PubMed articles for NHP2L1 gene, integrated from 10 sources (see all 49):
    (articles sorted by number of sources associating them with NHP2L1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and mapping of a human novel cDNA (NHP2L1) that encodes a protein highly homologous to yeast nuclear protein NHP2. (PubMed id 8978773)1, 2, 3, 9 Saito H.... Nakamura Y. (Cytogenet. Cell Genet. 1996)
    2. Binding of the human Prp31 Nop domain to a composite RNA-protein platform in U4 snRNP. (PubMed id 17412961)1, 2 Liu S.... Wahl M.C. (Science 2007)
    3. Functional implications for a prototypical K-turn binding protein from structural and dynamical studies of 15.5K. (PubMed id 18044964)1, 2 Soss S.E. and Flynn P.F. (Biochemistry 2007)
    4. The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP. (PubMed id 16723661)1, 2 Liu S.... Luehrmann R. (RNA 2006)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    7. Functional proteomic analysis of human nucleolus. (PubMed id 12429849)1, 2 Scherl A.... Diaz J.-J. (Mol. Biol. Cell 2002)
    8. Crystal structure of the spliceosomal 15.5kD protein bound to a U4 snRNA fragment. (PubMed id 11163207)1, 2 Vidovic I.... Ficner R. (Mol. Cell 2000)
    9. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I.... Wright H. (Nature 1999)
    10. HRad17 colocalizes with NHP2L1 in the nucleolus and redistributes after UV irradiation. (PubMed id 10593953)1, 2 Chang M.-S....Chen L.B. (J. Biol. Chem. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 4809 HGNC: 7819 AceView: NHP2L1 Ensembl:ENSG00000100138 euGenes: HUgn4809
    ECgene: NHP2L1 Kegg: 4809 H-InvDB: NHP2L1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for NHP2L1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for NHP2L1 gene:
    Search GeneIP for patents involving NHP2L1

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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