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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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include RNA binding.

UniProtKB/Swiss-Prot: SMD1_HUMAN, P62314
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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000018.10  NC_018929.2  NT_010966.15  
Regulatory elements:
   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 Chromatin IP Primers for SNRPD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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:
19,210,417 bp from pter
Size:
18,190 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: SMD1_HUMAN, P62314 (See protein sequence)
Recommended Name: Small nuclear ribonucleoprotein Sm D1  
Size: 119 amino acids; 13282 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. 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: In the autoimmune disease systemic lupus erythematosus, antinuclear antibodies are developed with
Sm specificity
Selected PDB 3D structures from and Proteopedia for SNRPD1 (see all 12):
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: 

  • Methylated on arginine residues by PRMT5 and PRMT7; probable asymmetric dimethylation which is required for
    assembly and biogenesis of snRNPs1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SNRPD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_008869.1  
    ENSEMBL proteins: 
     ENSP00000300413   ENSP00000463676   ENSP00000463568  
    Reactome Protein details: P62314

    SNRPD1 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:
     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,
    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: SMD1_HUMAN, P62314
    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. 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): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding TAS3260384
    GO:0005515protein binding IPI11714716
    GO:0044822poly(A) RNA binding IDA--
         
    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: Let us create your new Knockout/Knockin mouse model for SNRPD1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SNRPD1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SNRPD1

    miRNA
    Products:
        
    miRTarBase miRNAs that target SNRPD1:
    hsa-mir-215-5p (MIRT024897), hsa-mir-148b-3p (MIRT019490), hsa-mir-196a-5p (MIRT048162), hsa-mir-615-3p (MIRT040444), hsa-mir-26b-5p (MIRT029768), hsa-mir-192-5p (MIRT026601)

    Block miRNA regulation of human, mouse, rat SNRPD1 using miScript Target Protectors
    Selected qRT-PCR 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
    Products:
        
    OriGene RNAi products in human, mouse, rat for SNRPD1
    Predesigned siRNA for gene silencing in human, mouse, rat SNRPD1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: SNRPD1 (NM_006938)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SNRPD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNRPD1

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNRPD1


    (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
    SMD1_HUMAN, P62314: 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
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus TAS3260384
    GO:0005654nucleoplasm TAS--
    GO:0005685U1 snRNP IDA--
    GO:0005687U4 snRNP IDA--
    GO:0005689U12-type spliceosomal complex IDA15146077

    SNRPD1 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 SNRPD1 About    
    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
    2Regulation of Glucokinase by Glucokinase Regulatory Protein
    Metabolism of non-coding RNA0.54
    snRNP Assembly0.54
    3Gene Expression
    Gene Expression0.40
    4RNA Polymerase I Promoter Opening
    Systemic lupus erythematosus0.40
    5Spliceosome
    Spliceosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SNRPD1
        mRNA processing

    3 Reactome Pathways for SNRPD1
        mRNA Splicing - Major Pathway
    snRNP Assembly
    mRNA Splicing - Minor Pathway


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


    SNRPD1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SNRPD1
    Interactions:

        Search GeneGlobe Interaction Network for SNRPD1

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

    Selected Interacting proteins for SNRPD1 (P623141, 2, 3 ENSP000003004134) via UniProtKB, MINT, STRING, and/or I2D (see all 751)
    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): Selected biological process terms (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, 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 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)



    SNRPD1 for compounds           About GeneDecksing



    (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 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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    Selected qRT-PCR 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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    Clone
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    GenScript: all cDNA clones in your preferred vector: SNRPD1 (NM_006938)
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      QuantiTect SYBR Green Assays in human, mouse, rat SNRPD1
      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 

    Selected AceView cDNA sequences (see all 189):

    BI859061 AA366699 CF272354 CR613811 AW328036 AI357158 AI086147 AA970943 
    BQ631721 CB118898 AW291924 T28974 AA315681 BQ019332 BI755158 BM973434 
    AL534291 CR542239 F29688 BC072427 AI066514 BP336231 AA485205 AI688084 

    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™, 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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    SNRPD1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    SNRPD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SNRPD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.464734
        Custom PCR Arrays for SNRPD1
    Primer
    Products:
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    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SNRPD1 gene from Selected 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  NM_001277998.1  NP_001264927.1 
    lizard
    (Anolis carolinensis)
    Reptilia SNRPD16
    small nuclear ribonucleoprotein D1 polypeptide 16k...
    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
    68.09(n)1
    82.98(a)1
      69D63
    446681  NM_080035.31  NP_524774.11 
    worm
    (Caenorhabditis elegans)
    Secernentea snr-31 snr-3 62.5(n)
    76.04(a)
      174072  NM_062905.4  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 AT4G02840 67.38(n)
    75.53(a)
      828163  NM_116518.3  NP_192193.1 
    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)
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    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), 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 SNRPD1 (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 - 19210417 bp)

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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SNRPD1
    DNA2.0 Custom Variant and Variant Library Synthesis for SNRPD1

    (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.)
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    OMIM gene information: 601063    OMIM disorders: --

    18 diseases for SNRPD1:    
    About MalaCards
    neurotic disorder    phimosis    spinal muscular atrophy    muscular atrophy
    connective tissue disease    lupus erythematosus    systemic lupus erythematosus    hepatitis c virus
    hepatitis c    tonsillitis    melanoma    hepatitis
    malaria    thyroiditis    cerebritis    breast cancer
    neuronitis    prostatitis

    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)
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    PubMed articles for SNRPD1 gene, integrated from 10 sources (see all 92):
    (articles sorted by number of sources associating them with SNRPD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs. (PubMed id 18984161)1, 2 Chari A....Fischer U. (Cell 2008)
    2. 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)
    3. 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)
    4. 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)
    5. 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. (Curr. Biol. 2001)
    6. 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. (Cell 1999)
    7. 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. (Proc. Natl. Acad. Sci. U.S.A. 1994)
    8. Evidence for three distinct D proteins, which react differentially 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. (Nucleic Acids Res. 1990)
    9. 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. (Clin. Chem. 1989)
    10. Molecular cloning of a cDNA encoding the human Sm-D autoantigen. (PubMed id 3260384)1, 2 Rokeach L.A.... Hoch S.O. (Proc. Natl. Acad. Sci. U.S.A. 1988)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 6632 HGNC: 11158 AceView: SNRPD1 Ensembl:ENSG00000167088 euGenes: HUgn6632
    ECgene: SNRPD1 Kegg: 6632 H-InvDB: SNRPD1

    (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 SNRPD1 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 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



    (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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