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Aliases for SPDYE1 Gene

Aliases for SPDYE1 Gene

  • Speedy/RINGO Cell Cycle Regulator Family Member E1 2 3 5
  • Williams-Beuren Syndrome Chromosomal Region 19 Protein 3 4
  • Speedy E 2 3
  • WBSCR19 3 4
  • Williams Beuren Syndrome Chromosome Region 19 Protein 3
  • Williams Beuren Syndrome Chromosome Region 19 2
  • Speedy Homolog E1 (Xenopus Laevis) 2
  • Putative WBSCR19-Like Protein 6 3
  • Speedy Homolog E1 3
  • Speedy Protein E1 3
  • SPDYB2L2 3
  • Ringo1 3
  • SPDYE 3

External Ids for SPDYE1 Gene

Previous HGNC Symbols for SPDYE1 Gene

  • WBSCR19

Previous GeneCards Identifiers for SPDYE1 Gene

  • GC07P044009
  • GC07P044040

Summaries for SPDYE1 Gene

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. Among its related pathways are Oocyte meiosis. An important paralog of this gene is SPDYE6.

Additional gene information for SPDYE1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPDYE1 Gene

Genomics for SPDYE1 Gene

GeneHancer (GH) Regulatory Elements for SPDYE1 Gene

Promoters and enhancers for SPDYE1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J044605 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 41.5 +610.1 610091 4.3 CLOCK MLX DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC PPARGC1A OGDH SPDYE1 ENSG00000228596 SNHG15 DDX56 ENSG00000228434 ELK1P1 PURB COA1 TBRG4
GH07J044845 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 28.7 +850.1 850144 4.2 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC GLIS1 H2AFV LINC01952 CICP20 DDX56 SNORA5C POLM SNORA5B ENSG00000228434 SPDYE1 TMED4
GH07J044121 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 30.1 +125.6 125600 3.4 HDGF PKNOX1 CLOCK MLX ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF213 POLD2 ENSG00000228680 SPDYE1 ENSG00000228434 DDX56 POLM TMED4 SNORA5B SNHG15 TBRG4
GH07J044079 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 18.5 +85.4 85362 6.4 HDGF CLOCK SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLM RASA4CP ENSG00000239556 ENSG00000228434 SPDYE1 DDX56 TMED4 URGCP AEBP1
GH07J044795 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 18.3 +800.0 800001 4.1 CLOCK ZFP64 DMAP1 IRF4 YY1 ZNF213 ZNF143 ZNF548 SP3 NFYC PPIA GC07P044797 LOC105375259 GC07P044796 SEPT7P2 DDX56 SNORA5C POLM SNORA5B SNHG15
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPDYE1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SPDYE1 gene promoter:
  • Evi-1
  • AML1a
  • NRSF form 2
  • NRSF form 1
  • AREB6
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • RFX1
  • Tal-1

Genomic Locations for SPDYE1 Gene

Genomic Locations for SPDYE1 Gene
chr7:43,997,440-44,010,124
(GRCh38/hg38)
Size:
12,685 bases
Orientation:
Plus strand
chr7:44,040,488-44,049,723
(GRCh37/hg19)
Size:
9,236 bases
Orientation:
Plus strand

Genomic View for SPDYE1 Gene

Genes around SPDYE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPDYE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPDYE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPDYE1 Gene

Proteins for SPDYE1 Gene

  • Protein details for SPDYE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFV5-SPDE1_HUMAN
    Recommended name:
    Speedy protein E1
    Protein Accession:
    Q8NFV5
    Secondary Accessions:
    • Q9NTH5

    Protein attributes for SPDYE1 Gene

    Size:
    336 amino acids
    Molecular mass:
    40668 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SPDYE1 Gene

Post-translational modifications for SPDYE1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPDYE1 Gene

No data available for DME Specific Peptides for SPDYE1 Gene

Domains & Families for SPDYE1 Gene

Gene Families for SPDYE1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for SPDYE1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPDYE1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NFV5

UniProtKB/Swiss-Prot:

SPDE1_HUMAN :
  • Belongs to the Speedy/Ringo family.
Family:
  • Belongs to the Speedy/Ringo family.
genes like me logo Genes that share domains with SPDYE1: view

Function for SPDYE1 Gene

Phenotypes From GWAS Catalog for SPDYE1 Gene

Gene Ontology (GO) - Molecular Function for SPDYE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019901 protein kinase binding IBA --
genes like me logo Genes that share ontologies with SPDYE1: view
genes like me logo Genes that share phenotypes with SPDYE1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPDYE1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SPDYE1 Gene

Localization for SPDYE1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPDYE1 gene
Compartment Confidence
nucleus 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for SPDYE1 Gene

Pathways & Interactions for SPDYE1 Gene

SuperPathways for SPDYE1 Gene

SuperPathway Contained pathways
1 Oocyte meiosis
genes like me logo Genes that share pathways with SPDYE1: view

Pathways by source for SPDYE1 Gene

Interacting Proteins for SPDYE1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000258704%0d%0a9606.ENSP00000321656%0d%0a
Selected Interacting proteins: ENSP00000258704 for SPDYE1 Gene via STRING

Symbol External ID(s) Details
CDC25C

Gene Ontology (GO) - Biological Process for SPDYE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045859 regulation of protein kinase activity IBA --
genes like me logo Genes that share ontologies with SPDYE1: view

No data available for SIGNOR curated interactions for SPDYE1 Gene

Drugs & Compounds for SPDYE1 Gene

No Compound Related Data Available

Transcripts for SPDYE1 Gene

mRNA/cDNA for SPDYE1 Gene

(5) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(22) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SPDYE1 Gene

Speedy homolog E1 (Xenopus laevis):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPDYE1

Alternative Splicing Database (ASD) splice patterns (SP) for SPDYE1 Gene

No ASD Table

Relevant External Links for SPDYE1 Gene

GeneLoc Exon Structure for
SPDYE1
ECgene alternative splicing isoforms for
SPDYE1

Expression for SPDYE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPDYE1 Gene

mRNA differential expression in normal tissues according to GTEx for SPDYE1 Gene

This gene is overexpressed in Testis (x14.7).

NURSA nuclear receptor signaling pathways regulating expression of SPDYE1 Gene:

SPDYE1

SOURCE GeneReport for Unigene cluster for SPDYE1 Gene:

Hs.645483
genes like me logo Genes that share expression patterns with SPDYE1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPDYE1 Gene

Orthologs for SPDYE1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPDYE1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC100615808 33
  • 97.82 (n)
-- 34
  • 92 (a)
OneToMany
-- 34
  • 92 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 62 (a)
ManyToMany
-- 34
  • 62 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia 4933411G11Rik 34
  • 50 (a)
ManyToMany
Spdyb 34
  • 47 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 34
  • 47 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 34 (a)
ManyToMany
-- 34
  • 33 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 20 (a)
OneToMany
Species where no ortholog for SPDYE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SPDYE1 Gene

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

Paralogs for SPDYE1 Gene

Paralogs for SPDYE1 Gene

(9) SIMAP similar genes for SPDYE1 Gene using alignment to 1 proteins:

  • SPDE1_HUMAN

Pseudogenes.org Pseudogenes for SPDYE1 Gene

genes like me logo Genes that share paralogs with SPDYE1: view

Variants for SPDYE1 Gene

Sequence variations from dbSNP and Humsavar for SPDYE1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000432489 -- 44,006,520(+) C/T intron_variant
rs1000466654 -- 44,006,116(+) C/A intron_variant
rs1000765697 -- 44,007,669(+) G/A intron_variant
rs1000966568 -- 43,998,914(+) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1001276939 -- 44,010,847(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SPDYE1 Gene

Variant ID Type Subtype PubMed ID
dgv3784e59 CNV duplication 20981092
esv27186 CNV gain 19812545
esv2759527 CNV gain 17122850
esv33894 CNV loss 17666407
esv3613006 CNV gain 21293372
nsv1150705 CNV duplication 26484159
nsv428165 CNV gain 18775914
nsv8082 CNV gain 18304495
nsv830980 CNV loss 17160897
nsv966787 CNV duplication 23825009
nsv970822 CNV duplication 23825009

Variation tolerance for SPDYE1 Gene

Residual Variation Intolerance Score: 91.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.85; 73.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPDYE1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPDYE1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPDYE1 Gene

Disorders for SPDYE1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SPDYE1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • wbs
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SPDE1_HUMAN
  • 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 (PubMed:12073013). {ECO:0000269 PubMed:12073013}.

Additional Disease Information for SPDYE1

genes like me logo Genes that share disorders with SPDYE1: view

No data available for Genatlas for SPDYE1 Gene

Publications for SPDYE1 Gene

  1. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PMID: 12073013) Merla G … Reymond A (Human genetics 2002) 2 3 4 58
  2. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4 58
  3. Characterization of a new family of cyclin-dependent kinase activators. (PMID: 15574121) Dinarina A … Nebreda AR (The Biochemical journal 2005) 3 58
  4. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 4 58
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for SPDYE1 Gene

Sources for SPDYE1 Gene

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