Human Gene SPDYE1 (uc003tjf.3) Description and Page Index
  Description: Homo sapiens speedy/RINGO cell cycle regulator family member E1 (SPDYE1), mRNA.
RefSeq Summary (NM_175064): This gene is located at chromosome 7p13 which is close to the Williams Beuren syndrome chromosome region 7q11.23. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AF412027.1, AL137266.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on expression ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr7:44,040,489-44,049,723 Size: 9,235 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr7:44,040,625-44,047,367 Size: 6,743 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr7:44,040,489-44,049,723)mRNA (may differ from genome)Protein (336 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaBioGPSCGAP
EnsemblEntrez GeneExonPrimerGeneCardsGeneNetworkH-INV
PubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Speedy protein E1; AltName: Full=Williams-Beuren syndrome chromosomal region 19 protein;
DISEASE: 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.
SIMILARITY: Belongs to the Speedy/Ringo family.

-  MalaCards Disease Associations
  MalaCards Gene Search: SPDYE1
Diseases sorted by gene-association score: williams-beuren syndrome (9)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.31 RPKM in Testis
Total median expression: 12.33 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -25.50136-0.188 Picture PostScript Text
3' UTR -397.551503-0.265 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR020984 - Cell_cycle_regulatory_Spy1

Pfam Domains:
PF11357 - Cell cycle regulatory protein

ModBase Predicted Comparative 3D Structure on Q8NFV5
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0019901 protein kinase binding

Biological Process:
GO:0045859 regulation of protein kinase activity

-  Descriptions from all associated GenBank mRNAs
  JD278872 - Sequence 259896 from Patent EP1572962.
AF412027 - Homo sapiens Williams-Beuren syndrome critical region protein 19 (WBSCR19) mRNA, complete cds.
JD484145 - Sequence 465169 from Patent EP1572962.
JD544673 - Sequence 525697 from Patent EP1572962.
JD531989 - Sequence 513013 from Patent EP1572962.
JD227877 - Sequence 208901 from Patent EP1572962.
JD257237 - Sequence 238261 from Patent EP1572962.
JD221670 - Sequence 202694 from Patent EP1572962.
BC167785 - Synthetic construct Homo sapiens clone IMAGE:100068175, MGC:195792 speedy homolog E1 (Xenopus laevis) (SPDYE1) mRNA, encodes complete protein.
AL137266 - Homo sapiens mRNA; cDNA DKFZp434A1014 (from clone DKFZp434A1014).
JD338191 - Sequence 319215 from Patent EP1572962.
JD070857 - Sequence 51881 from Patent EP1572962.
JD283959 - Sequence 264983 from Patent EP1572962.
JD151154 - Sequence 132178 from Patent EP1572962.
JD325290 - Sequence 306314 from Patent EP1572962.
JD173679 - Sequence 154703 from Patent EP1572962.
JD288943 - Sequence 269967 from Patent EP1572962.
JD381847 - Sequence 362871 from Patent EP1572962.
JD141404 - Sequence 122428 from Patent EP1572962.
JD208080 - Sequence 189104 from Patent EP1572962.
JD275013 - Sequence 256037 from Patent EP1572962.
JD178141 - Sequence 159165 from Patent EP1572962.
JD044375 - Sequence 25399 from Patent EP1572962.
DQ587082 - Homo sapiens piRNA piR-54194, complete sequence.
JD510000 - Sequence 491024 from Patent EP1572962.
JD485031 - Sequence 466055 from Patent EP1572962.
JD485032 - Sequence 466056 from Patent EP1572962.
JD332934 - Sequence 313958 from Patent EP1572962.
JD332935 - Sequence 313959 from Patent EP1572962.
JD509758 - Sequence 490782 from Patent EP1572962.
JD280897 - Sequence 261921 from Patent EP1572962.
JD200717 - Sequence 181741 from Patent EP1572962.
JD090696 - Sequence 71720 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: NM_175064, NP_778234, Q8NFV5, Q9NTH5, SPDE1_HUMAN, WBSCR19
UCSC ID: uc003tjf.3
RefSeq Accession: NM_175064
Protein: Q8NFV5 (aka SPDE1_HUMAN)
CCDS: CCDS5475.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_175064.2
exon count: 7CDS single in 3' UTR: no RNA size: 2691
ORF size: 1011CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1000.00frame shift in genome: no % Coverage: 98.48
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.