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SPDYE1 Gene

protein-coding   GIFtS: 36
GCID: GC07P044040

Speedy/RINGO Cell Cycle Regulator Family Member E1

(Previous names: Williams Beuren syndrome chromosome region 19, speedy homolog...)
(Previous symbol: WBSCR19)
  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
Speedy/RINGO Cell Cycle Regulator Family Member E11 2     Ringo12
WBSCR191 2 3     SPDYE2
Speedy E1 2     Putative WBSCR19-Like Protein 62
Williams-Beuren Syndrome Chromosomal Region 19 Protein2 3     Speedy Homolog E12
Speedy Homolog E1 (Xenopus Laevis)1     Speedy Protein E12
Williams Beuren Syndrome Chromosome Region 191     Williams Beuren Syndrome Chromosome Region 19 Protein2

External Ids:    HGNC: 164081   Entrez Gene: 2859552   Ensembl: ENSG000001362067   UniProtKB: Q8NFV53   

Export aliases for SPDYE1 gene to outside databases

Previous GC identifer: GC07P044009


(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 SPDYE1 Gene:
This gene is located at chromosome 7p13 which is close to the Williams Beuren syndrome chromosome region 7q11.23.
(provided by RefSeq, Jul 2008)

GeneCards Summary for SPDYE1 Gene:
SPDYE1 (speedy/RINGO cell cycle regulator family member E1) is a protein-coding gene. Diseases associated with SPDYE1 include williams-beuren syndrome, and multiple myeloma. An important paralog of this gene is SPDYE2B.




(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_000007.14  NT_007819.18  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SPDYE1 gene promoter:
         RFX1   Tal-1   AML1a   SREBP-1c   NRSF form 1   NRSF form 2   SREBP-1b   Evi-1   AREB6   SREBP-1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPDYE1 promoter sequence
   Search Chromatin IP Primers for SPDYE1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPDYE1


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

Entrez Gene cytogenetic band: 7p13   Ensembl cytogenetic band:  7p13   HGNC cytogenetic band: 7q11.23

SPDYE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPDYE1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P044040:  view genomic region     (about GC identifiers)

Start:
44,040,488 bp from pter      End:
44,049,723 bp from pter
Size:
9,236 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 44,079,983-44,089,217     

(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: SPDE1_HUMAN, Q8NFV5 (See protein sequence)
Recommended Name: Speedy protein E1  
Size: 336 amino acids; 40668 Da
Secondary accessions: Q9NTH5

Explore the universe of human proteins at neXtProt for SPDYE1: NX_Q8NFV5

Explore proteomics data for SPDYE1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SPDYE1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_778234.2  
    ENSEMBL proteins: 
     ENSP00000258704  

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SPDY: Speedy homologs

    1 InterPro protein domain:
     IPR020984 Cell_cycle_regulatory_Spy1

    Graphical View of Domain Structure for InterPro Entry Q8NFV5

    ProtoNet protein and cluster: Q8NFV5

    UniProtKB/Swiss-Prot: SPDE1_HUMAN, Q8NFV5
    Similarity: Belongs to the Speedy/Ringo family


    SPDYE1 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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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPDYE1
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    (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 COMPARTMENTS: 

    CompartmentConfidence
    nucleus2

    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SPDYE1
    Interactions:

        Search GeneGlobe Interaction Network for SPDYE1

    (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 SPDYE1 (SPDE1)



    (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 SPDYE1 gene: 
    NM_175064.2  

    Unigene Cluster for SPDYE1:

    Speedy homolog E1 (Xenopus laevis)
    Hs.645483  [show with all ESTs]
    Unigene Representative Sequence: AF412027
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000258704(uc003tjf.3)
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat SPDYE1
      QuantiFast Probe-based Assays in human, mouse, rat SPDYE1

    Additional mRNA sequence: 

    AF412027.1 AL137266.1 

    18 DOTS entries:

    DT.95329841  DT.100017842  DT.121041107  DT.92004896  DT.121122643  DT.121124701  DT.75111632  DT.92419247 
    DT.121040225  DT.121040300  DT.91902173  DT.95143635  DT.95364332  DT.102840208  DT.121040967  DT.121116310 
    DT.121116628  DT.95290341 

    22 AceView cDNA sequences:

    AL137266 NM_175064 BI041149 BI041151 AF412027 AW851554 BI039248 BF912966 
    AA584098 AA076958 BX398924 AA076853 AA077685 T11673 BI039471 BE154255 
    AA076806 BF920212 BG008359 BF897198 AW393752 BQ375005 

    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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    SPDYE1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCTGTGTGT
    SPDYE1 Expression
    About this image

    SPDYE1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPDYE1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.645483
        Custom PCR Arrays for SPDYE1
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPDYE1

    (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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      --

    ENSEMBL Gene Tree for SPDYE1 (if available)
    TreeFam Gene Tree for SPDYE1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPDYE1 gene
    SPDYE2B2  SPDYE42  SPDYA2  SPDYC2  SPDYE32  SPDYE22  
    9 SIMAP similar genes for SPDYE1 using alignment to 1 protein entry:     SPDE1_HUMAN:
    SPDYE5    SPDYB2-L1    SPDYE2    SPDYE2B    SPDYE6    SPDYE7P
    SPDYE3    SPDYE4    SPY1

    SPDYE1 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for SPDYE1 (see all 9)
    PGOHUM00000237116 PGOHUM00000237117 PGOHUM00000232575 PGOHUM00000232862 PGOHUM00000250887


    (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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    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for SPDYE1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv887996CNV Loss21882294
    nsv830980CNV Loss17160897
    esv33894CNV Loss17666407
    nsv428165CNV Gain18775914
    esv27186CNV Gain19812545
    nsv8082CNV Gain18304495
    dgv2079e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SPDYE1
    DNA2.0 Custom Variant and Variant Library Synthesis for SPDYE1

    (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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    UniProtKB/Swiss-Prot: SPDE1_HUMAN, Q8NFV5
  • Note=SPDYE1 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a
    hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing
    over between highly homologous low-copy repeat sequences flanking the deleted region

  • 3 diseases for SPDYE1:    
    About MalaCards
    williams-beuren syndrome    multiple myeloma    myeloma


    SPDYE1 for disorders           About GeneDecksing


    Export disorders for SPDYE1 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 SPDYE1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with SPDYE1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PubMed id 12073013)1, 2, 3 Merla G.... Reymond A. (Hum. Genet. 2002)
    2. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    3. Characterization of a new family of cyclin-dependent kinase activators. (PubMed id 15574121)1 Dinarina A....Nebreda A.R. (Biochem. J. 2005)
    4. The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (Nature 2003)

    (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: 285955 HGNC: 16408 AceView: WBSCR19 Ensembl:ENSG00000136206 euGenes: HUgn285955
    ECgene: SPDYE1 H-InvDB: SPDYE1

    (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 SPDYE1 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 SPDYE1 gene:
    Search GeneIP for patents involving SPDYE1

    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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