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

SNRPD1 Gene

protein-coding   GIFtS: 61
GCID: GC18P019192

Small Nuclear Ribonucleoprotein D1 Polypeptide 16kDa

(Previous name: small nuclear ribonucleoprotein D1 polypeptide (16kD))
(Previous symbol: SNRPD)
  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)
About This Section

Aliases
Small Nuclear Ribonucleoprotein D1 Polypeptide 16kDa1 2     Small Nuclear Ribonucleoprotein D1 Polypeptide (16kD)1
SNRPD1 2     HsT24562
Sm-D12 3     SMD12
Sm-D Autoantigen2 3     Small Nuclear Ribonucleoprotein D1 Polypeptide 16kDa Pseudogene2
SnRNP Core Protein D12 3     Small Nuclear Ribonucleoprotein Sm D12

External Ids:    HGNC: 111581   Entrez Gene: 66322   Ensembl: ENSG000001670887   OMIM: 6010635   UniProtKB: P623143   

Export aliases for SNRPD1 gene to outside databases

Previous GC identifers: GC18P019067 GC18P018922 GC18P017444 GC18P017446 GC18P016039


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

Entrez Gene summary for SNRPD1 Gene:
This gene encodes a small nuclear ribonucleoprotein that belongs to the SNRNP core protein family. The protein may
act as a charged protein scaffold to promote SNRNP assembly or strengthen SNRNP-SNRNP interactions through
nonspecific electrostatic contacts with RNA. (provided by RefSeq, Jul 2008)

GeneCards Summary for SNRPD1 Gene: 
SNRPD1 (small nuclear ribonucleoprotein D1 polypeptide 16kDa) is a protein-coding gene. Diseases associated with SNRPD1 include neurotic disorder, and phimosis, and among its related super-pathways are mRNA Processing and Metabolism of non-coding RNA. GO annotations related to this gene include protein binding and RNA binding.

UniProtKB/Swiss-Prot: SMD1_HUMAN, P62314
Function: May act as a charged protein scaffold to promote snRNP assembly or strengthen snRNP-snRNP interactions
through nonspecific electrostatic contacts with RNA

Gene Wiki entry for SNRPD1 (Small nuclear ribonucleoprotein D1) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.2  NT_010966.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SNRPD1 gene promoter:
         AhR   HSF1 (long)   Arnt   c-Ets-1   HNF-1A   HEN1   HNF-1   FOXO4   HSF1short   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSNRPD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SNRPD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SNRPD1


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

Entrez Gene cytogenetic band: 18q11.2   Ensembl cytogenetic band:  18q11.2   HGNC cytogenetic band: 18q11.2

SNRPD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SNRPD1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P019192:  view genomic region     (about GC identifiers)

Start:
19,192,228 bp from pter      End:
19,210,344 bp from pter
Size:
18,117 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SMD1_HUMAN, P62314 (See protein sequence)
Recommended Name: Small nuclear ribonucleoprotein Sm D1  
Size: 119 amino acids; 13282 Da
Subunit: Identified in the spliceosome C complex. Component of the U11/U12 snRNPs that are part of the U12-type
spliceosome
Subcellular location: Nucleus
Miscellaneous: In the autoimmune disease systemic lupus erythematosus, antinuclear antibodies are developed with
Sm specificity
6/11 PDB 3D structures from and Proteopedia for SNRPD1 (see all 11):
1B34 (3D)        1VU2 (3D)        1VU3 (3D)        2Y9A (3D)        2Y9B (3D)        2Y9C (3D)    
Secondary accessions: B5BTZ1 P13641

Explore the universe of human proteins at neXtProt for SNRPD1: NX_P62314

Explore proteomics data for SNRPD1 at MOPED 

Post-translational modifications:

  • UniProtKB: Methylated on arginine residues by PRMT5 and PRMT7; methylation is required for assembly and biogenesis of snRNPs
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P62314

  • SNRPD1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SNRPD1 Protein Expression
    REFSEQ proteins: NP_008869.1  
    ENSEMBL proteins: 
     ENSP00000300413   ENSP00000463676   ENSP00000463568  
    Reactome Protein details: P62314
    Human Recombinant Protein Products for SNRPD1: 
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    Cloud-Clone Corp. Proteins for SNRPD1 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus TAS3260384
    GO:0005654nucleoplasm TAS--
    GO:0005689U12-type spliceosomal complex IDA15146077
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--

    SNRPD1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR001163 Ribonucl_LSM
     IPR027141 LSm4/Sm_D1/D3
     IPR010920 LSM_dom
     IPR006649 Ribonucl_LSM_euk/arc

    Graphical View of Domain Structure for InterPro Entry P62314

    ProtoNet protein and cluster: P62314

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

    UniProtKB/Swiss-Prot: SMD1_HUMAN, P62314
    Similarity: Belongs to the snRNP core protein family


    SNRPD1 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SMD1_HUMAN, P62314
    Function: May act as a charged protein scaffold to promote snRNP assembly or strengthen snRNP-snRNP interactions
    through nonspecific electrostatic contacts with RNA

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding TAS3260384
    GO:0005515protein binding IPI11714716
         
    SNRPD1 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for SNRPD1:
     Decreased cell number, increas  Decreased homologous recombina  Decreased viability of wild-ty  Increased gamma-H2AX phosphory 
     Metaphase cells 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SNRPD1 
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidSNRPD1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SNRPD1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    Processing of Capped Intron-Containing Pre-mRNA0.85
    mRNA processing0.46
    mRNA Processing0.85
    mRNA Splicing - Minor Pathway0.40
    mRNA Splicing - Major Pathway0.82
    Spliceosome0.31
    mRNA Splicing0.82
    2snRNP Assembly
    Metabolism of non-coding RNA1.00
    snRNP Assembly1.00
    3Metabolism of mRNA
    Metabolism of RNA0.92
    4Generic Transcription Pathway
    Gene Expression0.47
    5Alcoholism
    Systemic lupus erythematosus0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SNRPD1
        mRNA processing

    5/9        Reactome Pathways for SNRPD1 (see all 9)
        mRNA Splicing - Major Pathway
    mRNA Splicing
    snRNP Assembly
    Metabolism of non-coding RNA
    Metabolism of RNA


    2         Kegg Pathways  (Kegg details for SNRPD1):
        Spliceosome
    Systemic lupus erythematosus


    SNRPD1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SNRPD1

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

    5/695 Interacting proteins for SNRPD1 (P623141, 2, 3 ENSP000003004134) via UniProtKB, MINT, STRING, and/or I2D (see all 695)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMN1Q166372, 3, ENSP000003700834MINT-7947479 I2D: score=5 STRING: ENSP00000370083
    SMN2Q166372, 3, ENSP000003701194MINT-7947479 I2D: score=5 STRING: ENSP00000370119
    SNRPD2P623162, 3, ENSP000003423744MINT-49764 MINT-49765 I2D: score=4 STRING: ENSP00000342374
    SF3A2Q154282, 3, ENSP000002214944MINT-7947479 MINT-5205323 I2D: score=2 STRING: ENSP00000221494
    GEMIN4P576782, 3, ENSP000003217064MINT-7947479 I2D: score=1 STRING: ENSP00000321706
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000245spliceosomal complex assembly TAS7527560
    GO:0000387spliceosomal snRNP assembly TAS--
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0008380RNA splicing TAS--
    GO:0010467gene expression TAS--

    SNRPD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SNRPD1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SNRPD1 (SMD1)

    1 Novoseek inferred chemical compound relationship for SNRPD1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    arginine 27.2 3 11713266 (1), 11389857 (1), 15642139 (1)

    Search CenterWatch for drugs/clinical trials and news about SNRPD1 / SMD1

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SNRPD1 gene: 
    NM_006938.2  

    Unigene Cluster for SNRPD1:

    Small nuclear ribonucleoprotein D1 polypeptide 16kDa
    Hs.464734  [show with all ESTs]
    Unigene Representative Sequence: J03798
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000300413(uc002ktj.1) ENST00000579618 ENST00000582475
    miRNA
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    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate SNRPD1 (see all 14):
    hsa-miR-203 hsa-miR-4307 hsa-miR-548d-3p hsa-miR-548am hsa-miR-495 hsa-miR-526b hsa-miR-548e hsa-miR-888*
    SwitchGear 3'UTR luciferase reporter plasmidSNRPD1 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SNRPD1

    Additional mRNA sequence: 

    AB451227.1 AB451350.1 AJ577268.1 BC001721.1 BC072427.1 CR542239.1 J03798.1 

    10 DOTS entries:

    DT.453727  DT.95098834  DT.100042701  DT.121086055  DT.100044547  DT.100790344  DT.121086037  DT.121086047 
    DT.121360692  DT.100044542 

    24/189 AceView cDNA sequences (see all 189):

    AA970943 AA366699 BU679393 CB152620 AI357158 BP336231 AW328036 BI755158 
    BQ631721 AA315681 BU622184 T28974 CB118898 CF272354 AI347357 AW291924 
    BQ019332 AW628198 F29688 BI859061 CR542239 BM973434 AL534291 AW574908 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for SNRPD1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4
    SP1:                                    
    SP2:                    -               


    ECgene alternative splicing isoforms for SNRPD1

    (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

    SNRPD1 expression in normal human tissues (normalized intensities)      SNRPD1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATACACATC
    SNRPD1 Expression
    About this image


    SNRPD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/27 selected tissues (see all 27) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Islets of Langerhans
             pancreas ; exocrine glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             rectum ; glandular cells   

    See SNRPD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SNRPD1

    SOURCE GeneReport for Unigene cluster: Hs.464734
        SABiosciences Custom PCR Arrays for SNRPD1
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SNRPD1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNRPD1

    (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 SNRPD1 gene from 10/28 species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Snrpd11 , 5 small nuclear ribonucleoprotein D11, 5 94.4(n)1
    100(a)1
      18 (5.25 cM)5
    206411  NM_009226.41  NP_033252.11 
     106177965 
    chicken
    (Gallus gallus)
    Aves SNRPD11 small nuclear ribonucleoprotein D1 polypeptide 16kDa 81.85(n)
    100(a)
      776411  XM_001235935.2  XP_001235936.2 
    lizard
    (Anolis carolinensis)
    Reptilia SNRPD16
    Uncharacterized protein
    100(a)
    1 ↔ 1
    GL343324.1(215253-223013)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.83542 Xenopus laevis transcribed sequence with strong similarity more 80.77(n)    BU908566.1 
    zebrafish
    (Danio rerio)
    Actinopterygii snrpd12 small nuclear ribonucleoprotein D1 polypeptide 77.14(n)   192331  AF506225.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta snRNP69D3
    SmD11
    mRNA splicing3
    Small ribonucleoprotein particle protein SmD11
    88(a)3
    65.83(n)1
    82.35(a)1
      69D63
    446681  NM_080035.21  NP_524774.11 
    worm
    (Caenorhabditis elegans)
    Secernentea snr-31 Protein SNR-3 61.58(n)
    77.12(a)
      174072  NM_062905.3  NP_495306.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SMD1(YGR074W)4 Core Sm protein Sm D1; part of heteroheptameric complex more   --   7(635712-636152) 852964  NP_011588.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G028401 Small nuclear ribonucleoprotein family protein 67.57(n)
    78.38(a)
      828163  NM_001203735.1  NP_001190664.1 
    rice
    (Oryza sativa)
    Liliopsida Os.122872 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.59(n)    AK059067.1 


    ENSEMBL Gene Tree for SNRPD1 (if available)
    TreeFam Gene Tree for SNRPD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SNRPD1 gene
    5 SIMAP similar genes for SNRPD1 using alignment to 4 protein entries:     SMD1_HUMAN (see all proteins):
    LSM10    MST074    SNRPD3    LSM2    LSM4

    SNRPD1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for SNRPD1
    PGOHUM00000239538 PGOHUM00000239552


    (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) 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

    10/389 SNPs in SNRPD1 are shown (see all 389)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1402575931,2
    --19190578(+) CAGAGC/TGAGAA 1 -- us2k10--------
    rs734277451,2
    C,F--19190579(+) AGAGCG/AAGAAA 1 -- us2k12Minor allele frequency- A:0.05WA 120
    rs1434429451,2
    --19190712(+) GAAGCC/TCACAT 1 -- us2k10--------
    rs1480080051,2
    --19190753(+) GCTCAC/TGCCTA 1 -- us2k10--------
    rs1876103491,2
    --19190808(+) CAGGAA/GATCGA 1 -- us2k10--------
    rs1502486721,2
    C--19190863(+) TAGCCA/GGGCGT 1 -- us2k10--------
    rs1388770681,2
    C--19190875(+) GTGGCG/TGGCGC 1 -- us2k10--------
    rs1928043641,2
    --19190923(+) ATAGCA/GTGAAC 1 -- us2k10--------
    rs74074121,2
    C,F,A--19190992(+) cagagG/Agagac 1 -- us2k14Minor allele frequency- A:0.29NA CSA 7
    rs74074161,2
    C,F,A--19191021(+) catacG/Atacgt 1 -- us2k19Minor allele frequency- A:0.34NA WA CSA EA 252

    HapMap Linkage Disequilibrium report for SNRPD1 (19192228 - 19210344 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SNRPD1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv29974CNV Loss17803354
    nsv909449CNV Gain21882294
    nsv909448CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601063    OMIM disorders: --

    11 diseases for SNRPD1:    About MalaCards
    neurotic disorder    phimosis    spinal muscular atrophy    muscular atrophy
    lupus erythematosus    systemic lupus erythematosus    hepatitis c    melanoma
    hepatitis    neuronitis    breast cancer

    4 diseases from the University of Copenhagen DISEASES database for SNRPD1:
    Lupus erythematosus     Neurotic disorder     Phimosis     Connective tissue disease

    SNRPD1 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for SNRPD1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    autoimmune response 59.2 1 12571858 (1)
    lupus erythematosus systemic 56.3 4 14988508 (1), 9710444 (1), 17640359 (1), 11665986 (1)
    renal failure 15.7 1 14988508 (1)


    Export disorders for SNRPD1 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 SNRPD1 gene, integrated from 9 sources (see all 87):
    (articles sorted by number of sources associating them with SNRPD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (2004)
    2. 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. (2004)
    3. Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. (PubMed id 11991638)1, 2 Jurica M.S.... Moore M.J. (2002)
    4. Methylation of Sm proteins by a complex containing PRMT5 and the putative U snRNP assembly factor pICln. (PubMed id 11747828)1, 2 Meister G.... Fischer U. (2001)
    5. Crystal structures of two Sm protein complexes and their implications for the assembly of the spliceosomal snRNPs. (PubMed id 10025403)1, 2 Kambach C.... Nagai K. (1999)
    6. cDNA cloning of the Sm proteins D2 and D3 from human small nuclear ribonucleoproteins: evidence for a direct D1-D2 interaction. (PubMed id 7527560)1, 3 Lehmeier T.... Luehrmann R. (1994)
    7. Evidence for three distinct D proteins, which react d ifferentially with anti-Sm autoantibodies, in the cores of the major snRNPs U1, U2, U4/U6 and U5. (PubMed id 1701240)1, 3 Lehmeier T....LA1hrmann R. (1990)
    8. Expression of the major human ribonucleoprotein (RNP) autoantigens in Escherichia coli and their use in an EIA for screening sera from patients with autoimmune diseases. (PubMed id 2528429)1, 2 Renz M.... Seelig H.P. (1989)
    9. Molecular cloning of a cDNA encoding the human Sm-D autoantigen. (PubMed id 3260384)1, 2 Rokeach L.A.... Hoch S.O. (1988)
    10. Analysis of genes for human snRNP Sm-D1 protein and identification of the promoter sequence which shows segmental homology to the promoters of Sm-E and U1 snRNA genes. (PubMed id 9168134)1, 9 Sun D....Hoch S.O. (1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6632 HGNC: 11158 AceView: SNRPD1 Ensembl:ENSG00000167088 euGenes: HUgn6632
    ECgene: SNRPD1 Kegg: 6632 H-InvDB: SNRPD1

    (According to HUGE)
    About This Section
      --

    (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 SNRPD1 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 SNRPD1 gene:
    Search GeneIP for patents involving SNRPD1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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