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Gene id 285955
Gene Summary    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary

Gene Symbol SPDYE1   Gene   UCSC   Ensembl
Aliases Ringo1, SPDYB2L2, SPDYE, WBSCR19
Gene name speedy/RINGO cell cycle regulator family member E1
Alternate names putative WBSCR19-like protein 6, Speedy E, Williams Beuren syndrome chromosome region 19 protein, speedy homolog E1, speedy protein E1, williams-Beuren syndrome chromosomal region 19 protein,
Gene location 7p13 (43997867: 44011039)     Exons: 10     NC_000007.14
Gene summary(Entrez) This gene is located at chromosome 7p13 which is close to the Williams Beuren syndrome chromosome region 7q11.23. [provided by RefSeq, Jul 2008]
OMIM 617623

Protein Summary

Protein general information Q8NFV5  

Name: Speedy protein E1 (Williams Beuren syndrome chromosomal region 19 protein)

Length: 336  Mass: 40668

Sequence MQKHYTVAWFLYSAPGVDPSPPCRSLGWKRKREWSDESEEEPEKELAPEPEETWVVETLCGLKMKLKQQRVSPIL
LEHHKDFNSQLAPGVDPSPPHRSFCWKRKMEWWDKSEESEEEPRKVLAPEPEEIWVAEMLCGLKMKLKRRRVSLV
LPEHHEAFNRLLEDPVIKRFLAWDKDLRVSDKYLLAMVIAYFSRAGFPSWQYQRLHFFLALYLANDMEEDDEDSK
QNIFHFLYGKNRSRIPLLRKRRFQLYRSMNPRARKNRSHIPLVRKRRFQLRRCMNPRARKNRSQIVLFQKRRFHF
FCSMSCRAWVSPEELEEIQAYDPEHWVWARDRARLS
Structural information
Interpro:  IPR020984  
STRING:   ENSP00000258704
Other Databases GeneCards:  SPDYE1  Malacards:  SPDYE1

Gene ontology

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GO accessionTerm nameEvidence codeGo category
GO:0019901 protein kinase binding
IBA molecular function

KEGG pathways

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Pathway idPathway name
hsa04114Oocyte meiosis
hsa04914Progesterone-mediated oocyte maturation
Associated diseases References
Williams-Beuren syndrome KEGG:H01439
Williams-Beuren syndrome KEGG:H01439
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Cryptorchidism MIK: 28606200
Teratozoospermia MIK: 17327269

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia

13 (5 controls,
8 cases)
Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm

18
Male infertility GSE26881
Show abstract
28606200 Cryptorchi
dism

Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
Male infertility MeDIP-Seq
Show abstract
28606200 Cryptorchi
dism

Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
Male infertility MeDIP-Seq
Show abstract
28606200 Cryptorchi
dism

Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
Male infertility MeDIP-Seq
Show abstract