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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
  • 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.

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

Genomics for SPDYE1 Gene

Regulatory Elements for SPDYE1 Gene

Enhancers for SPDYE1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F043925 0.6 ENCODE 29.1 -70.7 -70693 2.2 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 DDX56 SPDYE1 ENSG00000228434 POLM POLR2J4 POLD2 RASA4CP DBNL UBE2D4 PIR62464
GH07F043301 0.5 Ensembl ENCODE 20.8 -695.0 -695035 1.6 ZFP64 ZNF140 ZNF266 ZIC2 ZNF101 ZFHX2 ZNF433 ZBTB20 RFX1 ZBTB11 SPDYE1 ENSG00000228434 ENSG00000228680 HECW1 POLD2 LOC102724903 GC07P043445
GH07F043304 0.5 Ensembl 18.6 -693.3 -693340 0.6 ZFP64 ZNF138 EGR2 ZNF202 ZNF680 ZNF654 REST TBX21 ZNF518A ZNF623 SPDYE1 ENSG00000228434 TUBG1P POLD2 POLR2J4 LOC102724903 GC07P043445
GH07F044184 1 Ensembl ENCODE 12.1 +187.6 187597 1.8 YBX3 KLF17 SIN3A GLI4 RFX5 GLIS2 ZNF366 SCRT2 RCOR1 FOS ENSG00000228680 ENSG00000228596 RPL18AP10 SNORA5B SNORA5C ENSG00000228434 SPDYE1 TBRG4 DDX56 YKT6
GH07F044070 1.1 Ensembl ENCODE 10 +76.3 76290 5.5 PKNOX1 ARID4B YY1 SLC30A9 GLIS2 FOS ZNF263 ZNF202 SP3 REST POLM RASA4CP UBE2D4 DDX56 ENSG00000228434 SNHG15 SPDYE1 MIR6838 PGAM2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SPDYE1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SPDYE1 Gene

Chromosome:
7
Start:
43,997,440 bp from pter
End:
44,010,124 bp from pter
Size:
12,685 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

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

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
Jensen Localization Image for SPDYE1 Gene COMPARTMENTS Subcellular localization image for SPDYE1 gene
Compartment Confidence
nucleus 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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

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

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 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

Primer Products

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 and mRNA Expression by UniProt/SwissProt 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 34
  • 97.82 (n)
-- 35
  • 92 (a)
OneToMany
-- 35
  • 92 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 35
  • 62 (a)
ManyToMany
-- 35
  • 62 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia 4933411G11Rik 35
  • 50 (a)
ManyToMany
Spdyb 35
  • 47 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 35
  • 47 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 34 (a)
ManyToMany
-- 35
  • 33 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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:

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 Sequence Context AA Info Type
rs10251596 -- 43,996,603(+) actcc(C/T)agact intron-variant, upstream-variant-2KB
rs1062112 -- 43,999,623(-) CCTCT(A/G)TTCCC intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs111342823 -- 43,998,323(+) CTTTA(-/T)TTTTT intron-variant, upstream-variant-2KB
rs111349685 -- 43,996,628(+) ACCTC(A/G)GCTTC intron-variant, upstream-variant-2KB
rs111397447 -- 43,998,132(+) CCACC(A/C)AGCTC intron-variant, upstream-variant-2KB

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)

Relevant External Links 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
  • fanconi schlesinger syndrome
- 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}.

Relevant External Links for SPDYE1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Hum. Genet. 2002) 2 3 4 64
  2. The full-ORF clone resource of the German cDNA consortium. (PMID: 17974005) Bechtel S. … Schupp I. (BMC Genomics 2007) 4 64
  3. Characterization of a new family of cyclin-dependent kinase activators. (PMID: 15574121) Dinarina A. … Nebreda A.R. (Biochem. J. 2005) 3 64
  4. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 4 64

Products for SPDYE1 Gene

Sources for SPDYE1 Gene

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