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SNRPE Gene

protein-coding   GIFtS: 64
GCID: GC01P203839

Small Nuclear Ribonucleoprotein Polypeptide E

  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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Small Nuclear Ribonucleoprotein Polypeptide E1 2     B-raf2
Sm Protein E2 3     SME2
Sm-E2 3     Small Nuclear Ribonucleoprotein E2
snRNP-E2 3     SmE3
HYPT112 5     

External Ids:    HGNC: 111611   Entrez Gene: 66352   Ensembl: ENSG000001820047   OMIM: 1282605   UniProtKB: P623043   
ORGUL members:         

Export aliases for SNRPE gene to outside databases

Previous GC identifers: GC01P201548 GC01P199291 GC01P200191 GC01P201008 GC01P200563 GC01P202097 GC01P203831 GC01P174996 GC01P203834


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SNRPE Gene:
SNRPE (small nuclear ribonucleoprotein polypeptide E) is a protein-coding gene. Diseases associated with SNRPE include hypotrichosis 11, and hypotrichosis simplex. GO annotations related to this gene include RNA binding.

UniProtKB/Swiss-Prot: RUXE_HUMAN, P62304
Function: Core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the
building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most
spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG
that assemble in an heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. As
part of the U7 snRNP it is involved in histone 3'-end processing. May indirectly play a role in hair development

Gene Wiki entry for SNRPE (Small nuclear ribonucleoprotein polypeptide E) 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_000001.11  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the SNRPE gene promoter:
         AML1a   AP-1   Brachyury   ATF-2   CUTL1   Tal-1beta   Evi-1   STAT3   c-Jun   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSNRPE promoter sequence
   Search Chromatin IP Primers for SNRPE

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


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

Entrez Gene cytogenetic band: 1q32   Ensembl cytogenetic band:  1q32.1   HGNC cytogenetic band: 1q32

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P203839:  view genomic region     (about GC identifiers)

Start:
203,830,731 bp from pter      End:
203,840,280 bp from pter
Size:
9,550 bases      Orientation:
plus 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RUXE_HUMAN, P62304 (See protein sequence)
Recommended Name: Small nuclear ribonucleoprotein E  
Size: 92 amino acids; 10804 Da
Subunit: U1 snRNP is for instance composed of the 7 core Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF
and SNRPG that assemble in an heptameric protein ring on the Sm site of the small nuclear RNA to form the core
snRNP, and at least three U1 snRNP-specific proteins SNRNP70/U1-70K, SNRPA/U1-A and SNRPC/U1-C. Component of the
U11/U12 snRNPs that are part of the U12-type spliceosome. Component of the heptameric ring U7 snRNP complex, or
U7 Sm protein core complex, at least composed of LSM10, LSM11, SNRPB, SNRPD3, SNRPE, SNRPF, SNRPG and U7 snRNA.
Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8,
STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG; catalyzes core snRNPs
assembly. Forms a 6S pICln-Sm complex composed of CLNS1A/pICln, SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG; ring-like
structure where CLNS1A/pICln mimics additional Sm proteins and which is unable to assemble into the core snRNP
Miscellaneous: Patients with systemic lupus erythematosus produce antibodies which interact with snRNP proteins
Selected PDB 3D structures from and Proteopedia for SNRPE (see all 11):
1VU2 (3D)        1VU3 (3D)        2Y9A (3D)        2Y9B (3D)        2Y9C (3D)        2Y9D (3D)    
Secondary accessions: B2R5B9 P08578 Q15498 Q5BKT2

Explore the universe of human proteins at neXtProt for SNRPE: NX_P62304

Explore proteomics data for SNRPE at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys12, Lys80
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_003085.1  
    ENSEMBL proteins: 
     ENSP00000400591   ENSP00000356176  
    Reactome Protein details: P62304

    SNRPE Human Recombinant Protein Products:

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    Novus Biologicals SNRPE Protein
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    SNRPE Antibody Products:

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    SNRPE Assay Products:

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    Cloud-Clone Corp. ELISAs for SNRPE
    Cloud-Clone Corp. CLIAs for SNRPE


    (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:
     IPR001163 Ribonucl_LSM
     IPR027078 snRNP-E
     IPR010920 LSM_dom
     IPR006649 Ribonucl_LSM_euk/arc

    Graphical View of Domain Structure for InterPro Entry P62304

    ProtoNet protein and cluster: P62304

    1 Blocks protein domain: IPB010920 Like-Sm ribonucleoprotein-related

    UniProtKB/Swiss-Prot: RUXE_HUMAN, P62304
    Similarity: Belongs to the snRNP Sm proteins family


    SNRPE 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: RUXE_HUMAN, P62304
    Function: Core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the
    building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most
    spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG
    that assemble in an heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. As
    part of the U7 snRNP it is involved in histone 3'-end processing. May indirectly play a role in hair development

         Genatlas biochemistry entry for SNRPE:
    small ribonucleoprotein,E polypeptide

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI11714716
         
    SNRPE for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for SNRPE:
     Decreased cell number, increas  Decreased viability  Increased gamma-H2AX phosphory 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Snrpe):
     endocrine/exocrine gland  reproductive system 

    SNRPE for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SNRPE
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SNRPE

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SNRPE
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SNRPE

    miRNA
    Products:
        
    miRTarBase miRNAs that target SNRPE:
    hsa-mir-92a-3p (MIRT049628), hsa-let-7b-5p (MIRT051965)

    Block miRNA regulation of human, mouse, rat SNRPE using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate SNRPE:
    hsa-miR-4264 hsa-miR-338-5p
    SwitchGear 3'UTR luciferase reporter plasmidSNRPE 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SNRPE
    Predesigned siRNA for gene silencing in human, mouse, rat SNRPE

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for SNRPE (see all 6)
    OriGene ORF clones in mouse, rat for SNRPE
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SNRPE (NM_003094)
    Sino Biological Human cDNA Clone for SNRPE
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SNRPE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNRPE

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNRPE


    (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
    RUXE_HUMAN, P62304: Cytoplasm, cytosol. Nucleus. Note=SMN-mediated assembly into core snRNPs occurs in the
    cytosol before SMN-mediated transport to the nucleus to be included in spliceosomes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    mitochondrion2

    Gene Ontology (GO): Selected cellular component terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005681spliceosomal complex NAS2974536
    GO:0005683U7 snRNP IDA11574479
    GO:0005685U1 snRNP IDA--

    SNRPE 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 SNRPE About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    mRNA Splicing - Major Pathway0.78
    mRNA processing0.44
    Processing of Capped Intron-Containing Pre-mRNA0.78
    mRNA Splicing - Minor Pathway0.38
    mRNA Splicing0.78
    2RNA Polymerase II Transcription Termination
    RNA Polymerase II Transcription Termination0.80
    SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs0.00
    Cleavage of Growing Transcript in the Termination Region0.80
    SLBP independent Processing of Histone Pre-mRNAs0.00
    Processing of Capped Intronless Pre-mRNA0.52
    3Regulation of Glucokinase by Glucokinase Regulatory Protein
    Metabolism of non-coding RNA0.54
    snRNP Assembly0.54
    4Formation of RNA Pol II elongation complex
    RNA Polymerase II Transcription0.60
    5Gene Expression
    Gene Expression0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SNRPE
        mRNA processing


    Selected Reactome Pathways for SNRPE (see all 6)
        mRNA Splicing - Major Pathway
    SLBP independent Processing of Histone Pre-mRNAs
    snRNP Assembly
    Cleavage of Growing Transcript in the Termination Region
    SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs


    1 Kegg Pathway  (Kegg details for SNRPE):
        Spliceosome


    SNRPE for pathways           About GeneDecksing

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

        GeneGlobe Interaction Network for SNRPE

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

    Selected Interacting proteins for SNRPE (P623041, 2, 3 ENSP000004005914) via UniProtKB, MINT, STRING, and/or I2D (see all 674)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000224979Q9Y3332, 3, ENSP000004140064MINT-62691 MINT-62767 MINT-62593 I2D: score=5 STRING: ENSP00000414006
    ENSG00000236826Q9Y3332, 3, ENSP000004146344MINT-62691 MINT-62767 MINT-62593 I2D: score=5 STRING: ENSP00000414634
    LSM2Q9Y3332, 3, ENSP000003648134MINT-62691 MINT-62767 MINT-62593 I2D: score=5 STRING: ENSP00000364813
    SNRPFP623061, 2, 3, ENSP000002667354EBI-348082,EBI-356900 MINT-49760 MINT-8332778 I2D: score=11 STRING: ENSP00000266735
    ENSG00000172850Q9Y3332, 3MINT-62691 MINT-62767 MINT-62593 I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000245spliceosomal complex assembly NAS2974536
    GO:0000387spliceosomal snRNP assembly TAS--
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0006366transcription from RNA polymerase II promoter TAS--
    GO:0006369termination of RNA polymerase II transcription TAS--

    SNRPE 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 SNRPE (RUXE)



    (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,
    Conferences by KenesGroup, 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 SNRPE gene: 
    NM_003094.2  

    Unigene Clusters for SNRPE:

    Small nuclear ribonucleoprotein polypeptide E
    Hs.334612  [show with all ESTs], Hs.654418  [show with all ESTs]
    Unigene Representative Sequences: BC072433, BM547564
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000483099 ENST00000475035 ENST00000470492 ENST00000414487(uc010pqn.2 uc001hai.3)
    ENST00000469451 ENST00000367208
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate SNRPE:
    hsa-miR-4264 hsa-miR-338-5p
    SwitchGear 3'UTR luciferase reporter plasmidSNRPE 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: SNRPE (NM_003094)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SNRPE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNRPE
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat SNRPE
      QuantiTect SYBR Green Assays in human, mouse, rat SNRPE
      QuantiFast Probe-based Assays in human, mouse, rat SNRPE

    Additional mRNA sequence: M15919.1 

    11 DOTS entries:

    DT.99962552  DT.121339604  DT.100037060  DT.91735101  DT.216953  DT.121455651  DT.75133742  DT.102833912 
    DT.40106028  DT.121339673  DT.216954 

    Selected AceView cDNA sequences (see all 215):

    M15919 AA505968 W80493 X12466 AI826356 NM_003094 AA384245 W84630 
    BM760091 AI613313 M37716 W87610 AI279902 CR603313 AA804898 CA772269 
    W42658 BM784865 CD516009 BX280839 AI263891 D19829 AA846523 AI052749 

    GeneLoc Exon Structure


    (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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    SNRPE expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTAAAAGGAG
    SNRPE Expression
    About this image

    SNRPE Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SNRPE Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.334612 Hs.654418

    UniProtKB/Swiss-Prot: RUXE_HUMAN, P62304
    Tissue specificity: Widely expressed. In scalp skin, it is present in the hair follicle, the epidermis, and the
    dermis

        Custom PCR Arrays for SNRPE
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    QuantiFast Probe-based Assays in human, mouse, rat SNRPE
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNRPE

    (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 SNRPE gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Snrpe5
    LOC1026324391
    small nuclear ribonucleoprotein E5
    small nuclear ribonucleoprotein E-like1
    92.39(n)1
    97.83(a)1
      1 (57.94 cM)5
    1026324391  XM_006500515.11  XP_006500578.11 
     1336038715 
    chicken
    (Gallus gallus)
    Aves SNRPE6
    Gallus gallus small nuclear ribonucleoprotein poly...
    100(a)
    1 ↔ 1
    26(1620031-1622178)
    lizard
    (Anolis carolinensis)
    Reptilia SNRPE6
    small nuclear ribonucleoprotein polypeptide E
    100(a)
    1 ↔ 1
    4(118051895-118059533)
    African clawed frog
    (Xenopus laevis)
    Amphibia BM261985.12   -- 84.25(n)    BM261985.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC049062.12   -- 75.53(n)   393979  BC049062.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG185913 mRNA splicing 75(a)   28D2   --
    worm
    (Caenorhabditis elegans)
    Secernentea snr-66
    Protein SNR-6 (snr-6) mRNA, complete cds
    63(a)
    1 ↔ 1
    III(12429172-12431321) WBGene00004919
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SME16
    Core Sm protein Sm E; part of heteroheptameric com...
    46(a)
    1 ↔ 1
    XV(633282-633566) YOR159C
    soybean
    (Glycine max)
    eudicotyledons 444930782   -- 74.03(n)  
    rice
    (Oryza sativa)
    Liliopsida Os.66842 Oryza sativa (japonica cultivar-group) cDNA clone001-118-E07, full insert sequence less 72.31(n)    AK063621.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SNRPE gene
    1 SIMAP similar gene for SNRPE using alignment to 2 protein entries:     RUXE_HUMAN (see all proteins):
    LSM5

    SNRPE for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for SNRPE (see all 9)
    PGOHUM00000238801 PGOHUM00000248750 PGOHUM00000244445 PGOHUM00000244648 PGOHUM00000240122


    (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)
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    Selected SNPs for SNRPE (see all 291)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0696194
    Hypotrichosis 11 (HYPT11)4--see VAR_0696192 G S mis40--------
    rs1812155121,2
    --174994893(+) CTGCCA/TCCCAG 1 -- us2k10--------
    rs1835267531,2
    --174994894(+) TGCCTA/CCCAGA 1 -- us2k10--------
    rs357751481,2
    C--174994911(+) CAATT-/CTCCTGCC 1 -- us2k10--------
    rs1892459371,2
    --174994946(+) CTACAA/GGCGCC 1 -- us2k10--------
    rs1459450181,2
    --174994993(+) GAGACA/GGGGTT 1 -- us2k10--------
    rs57802001,2
    C,F--174995112(+) TTTTTT/-AAAGG 1 -- us2k12Minor allele frequency- -:0.50NA CSA 4
    rs2009913071,2
    C--174995119(-) TCCTTA/TANNNN 1 -- us2k10--------
    rs1145053291,2
    F--174995163(+) AGTTTA/GTTTAT 1 -- us2k11Minor allele frequency- G:0.05WA 118
    rs75304551,2
    C,F,A--174995315(+) gattaC/Taggca 1 -- us2k15Minor allele frequency- T:0.40NA WA CSA 10

    HapMap Linkage Disequilibrium report for SNRPE (203830731 - 203840280 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SNRPE: --
    Human Gene Mutation Database (HGMD): SNRPE
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing SNRPE
    DNA2.0 Custom Variant and Variant Library Synthesis for SNRPE

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 128260   
    OMIM disorders: 615059  
    UniProtKB/Swiss-Prot: RUXE_HUMAN, P62304
  • Hypotrichosis 11 (HYPT11) [MIM:615059]: A form of hypotrichosis, a condition characterized by the
    presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and
    atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families.
    HYPT11 is characterized by scanty or absent eyebrows and a highly variable degree of alopecia since birth,
    ranging from slight thinning of scalp and axillary hair to complete loss of scalp and body hair. Pubic hair
    remains mainly unaffected. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 18 diseases for SNRPE:    About MalaCards
    hypotrichosis 11    hypotrichosis simplex    hypotrichosis    spinal muscular atrophy
    langerhans-cell histiocytosis    muscular atrophy    histiocytosis    bladder carcinoma
    papillary carcinoma    systemic lupus erythematosus    lupus erythematosus    melanoma
    thyroiditis    hiv-1    multiple myeloma    malaria
    myeloma    neuronitis


    SNRPE for disorders           About GeneDecksing


    Export disorders for SNRPE 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 SNRPE gene, integrated from 10 sources (see all 89):
    (articles sorted by number of sources associating them with SNRPE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Assignment of the gene for the small nuclear ribonucleoprotein E (SNRPE) to human chromosome 1q25-q43. (PubMed id 2143747)1, 3, 9 Neiswanger K....Wieben E.D. (Genomics 1990)
    2. Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. (PubMed id 23246290)1, 2 Pasternack S.M.... Betz R.C. (Am. J. Hum. Genet. 2013)
    3. An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs. (PubMed id 18984161)1, 2 Chari A....Fischer U. (Cell 2008)
    4. The human 18S U11/U12 snRNP contains a set of novel proteins not found in the U2-dependent spliceosome. (PubMed id 15146077)1, 2 Will C.L.... Luehrmann R. (RNA 2004)
    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. Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. (PubMed id 11991638)1, 2 Jurica M.S.... Moore M.J. (RNA 2002)
    7. Purified U7 snRNPs lack the Sm proteins D1 and D2 but contain Lsm10, a new 14 kDa Sm D1-like protein. (PubMed id 11574479)1, 2 Pillai R.S.... Mueller B. (EMBO J. 2001)
    8. Transcriptional regulation of the small nuclear ribonucleoprotein E protein gene. Identification of cis-acting sequences with homology to genes encoding ribosomal proteins. (PubMed id 1835977)1, 3 Fautsch M.P. and Wieben E.D. (J. Biol. Chem. 1991)
    9. The complete primary structure of the human snRNP E protein. (PubMed id 2974536)1, 2 Stanford D.R.... Wieben E.D. (Nucleic Acids Res. 1988)
    10. The small nuclear ribonucleoprotein E protein gene contains four introns and has upstream similarities to genes for ribosomal proteins. (PubMed id 2972723)1, 2 Stanford D.R.... Wieben E.D. (J. Biol. Chem. 1988)

    (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: 6635 HGNC: 11161 AceView: SNRPE Ensembl:ENSG00000182004 euGenes: HUgn6635
    ECgene: SNRPE Kegg: 6635 H-InvDB: SNRPE

    (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)
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    NameDescription
    PharmGKB entry for SNRPE Pharmacogenomics, SNPs, Pathways

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

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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