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SPDYE1 Gene

protein-coding GIFtS: 29

GC07P044009

speedy homolog E1 (Xenopus laevis)
(Previous name: Williams Beuren syndrome chromosome region 19 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: WBSCR19)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
DKFZp434A1014 ^²
Ringo1 ^¹, ²
SPDYE ^¹, ²
WBSCR19 ^²

Descriptions
Speedy E ^²
Williams Beuren syndrome chromosome region 19 ^¹, ²
Williams Beuren syndrome chromosome region 19 protein ^²
speedy homolog E1 (Xenopus laevis) ^²

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

Search outside databases for aliases for SPDYE1 gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for SPDYE1:

This gene is located at chromosome 7p13 which is close to the Williams Beuren syndrome chromosome

region 7q11.23. [provided by RefSeq]

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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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)

GeneLoc gene densities for chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07P044009: (about GC identifiers)

Start:	44,007,013 bp from pter
End:	44,016,248 bp from pter
Size:	9,236 bases
Orientation:	plus strand

1 alternative location:

Chr7+,CRA_TCAG 44,079,983-44,089,217

RefSeq DNA sequence:

NC_000007.12 NT_007819.16 NT_079592.2

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: WBS19_HUMAN, Q8NFV5 (See protein sequence)

Recommended Name: Williams-Beuren syndrome chromosomal region 19 protein

Size: 336 amino acids; 40652 Da

Secondary accessions: Q9NTH5

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_778234.2

ENSEMBL proteins:

ENSP00000258704

Human Recombinant Proteins

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Antibodies for SPDYE1:

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Assays for SPDYE1:

	Browse Invitrogen for biochemical assays
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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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ProtoNet protein and cluster: Q8NFV5

UniProtKB/Swiss-Prot: WBS19_HUMAN, Q8NFV5

Similarity: Belongs to the Speedy/Ringo family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Browse Invitrogen for RNAi
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_175064

Applied Biosystems Silencer® siRNAs for SPDYE1

Browse siRNA at Sigma-Aldrich

Browse shRNA at Sigma-Aldrich

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_175064
Myc/DDK tagged cDNA clone in CMV expression vector: NM_175064
untagged cDNA clones in CMV expression vector (see all 2): AK091784

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_175064

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
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Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for SPDYE1

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
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Inhib. RNA:		Browse Invitrogen for RNAi
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_175064

Browse siRNA at Sigma-Aldrich

Browse shRNA at Sigma-Aldrich

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_175064

REFSEQ mRNAs for SPDYE1 gene:

NM_175064.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_175064

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_175064
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_175064
                                 untagged cDNA clones in CMV expression vector (see all 2): AK091784

Additional cDNA sequence:

AF412027.1 AL137266.1

20 DOTS entries:

DT.95329841 DT.100017842 DT.121041107 DT.92004896 DT.95143635 DT.75111632 DT.121122643 DT.121124701

DT.92419247 DT.121040225 DT.121040300 DT.91902173 DT.95364332 DT.102840208 DT.121040967 DT.121041023

DT.121116310 DT.121116628 DT.92469765 DT.95290341

22 AceView cDNA sequences:

NM_175064 AL137266 BI041149 BI041151 AW851554 AF412027 BI039248 BF912966

BX398924 AA076958 AA584098 AA076853 AA077685 T11673 BE154255 BI039471

AA076806 BG008359 BF920212 BF897198 AW393752 BQ375005

Unigene Cluster for SPDYE1:

Speedy homolog E1 (Xenopus laevis)

Hs.645483 [show with all ESTs]

Unigene Representative Sequence: AF412027

GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:

ENST00000258704

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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SPDYE1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for SPDYE1

¹ / ²

2 probe-sets matching SPDYE1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
232964_at²	U133-B	13	1.00	0.29	--	--	--	--	--	--	--
232964_at²	U133Plus2	13	1.00	0.29	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: AGCTGTGTGT

SOURCE GeneReport for Unigene cluster: Hs.645483

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for SPDYE1 gene from 1 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
chimpanzee (Pan troglodytes)	LOC741842¹	--	similar to Williams-Beuren syndrome critical region more	92.16(n) 89.58(a)	741842 XM_001142986.1 XP_001142986.1

About this table Species with no ortholog for SPDYE1

ENSEMBL Gene Tree for SPDYE1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for SPDYE1 gene

LOC442590¹ ENSG00000205482² ENSG00000185040² ENSG00000205508² SPDYA² SPDYE7P² SPDYE5² ENSG00000205506²

ENSG00000173678² SPDYC² SPDYE8P² ENSG00000166667² ENSG00000186645² SPDYE4² ENSG00000184616² SPDYE2²

LOC441258² SPDYE3² ENSG00000205580² ENSG00000205509²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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10/59 NCBI SNPs in SPDYE1 are shown (see all 59 )

AB	SNP ID	Valid	Chr 7 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
--	rs1894750^1,2	H	44015576(+)	`TTGCTG/ATTTAG`	1	--	ut3¹		5		MN EU EA WA	580
--	rs4724271^1,2	C	44006343(+)	`gaggcA/Gggcgg`	1	--	ng5¹		0	--	--	--	--
--	rs6973290^1,2	C	44013906(+)	`GGACCA/GTGGAG`	1	--	ut3¹ ese³		0	--	--	--	--
--	rs6973596^1,2	C	44006986(+)	`AGCAGC/TGTTCG`	1	--	ng5¹		0	--	--	--	--
--	rs4637720^1,2	A,C	44007523(+)	`CTCCAC/TGCAGG`	1	--	int¹		0	--	--	--	--
--	rs4537208^1,2	C	44007634(+)	`CGGgcC/Taggtg`	1	--	int¹		0	--	--	--	--
--	rs6950221^1,2	A	44013088(+)	`caggcC/Tcgtct`	1	--	int¹		0	--	--	--	--
--	rs28661225^1,2	--	44006767(+)	`AAAATG/TGAGCT`	1	--	ng5¹		0	--	--	--	--
--	rs62458715^1,2	--	44007080(+)	`AGAAGC/TCAGCA`	1	--	ut5¹		0	--	--	--	--
--	rs62458723^1,2	--	44015937(+)	`TCTTTG/TTATCT`	1	--	ut3¹		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for SPDYE1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

4 PubMed articles for SPDYE1 gene:

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

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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, 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)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Licensable Technologies for SPDYE1
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for SPDYE1:

TaqMan ® Gene Expression Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for SPDYE1-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

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SPDYE1 Gene

protein-coding GIFtS: 29

Aliases &
Descriptions
for SPDYE1

Summaries
for SPDYE1

Genomic Location
for SPDYE1

Proteins
for SPDYE1

Protein Domains/
Families
for SPDYE1

Gene Function
for SPDYE1

Pathways & Interactions
for SPDYE1

Drugs & Compounds
for SPDYE1

Transcripts
for SPDYE1

Expression
for SPDYE1

Orthologs
for SPDYE1

Paralogs
for SPDYE1

SNPs/Variants
for SPDYE1

Disorders & Mutations
for SPDYE1

Medical News
for SPDYE1

Publications
for SPDYE1

Search for SPDYE1

Genome Databases showing SPDYE1

Other Databases showing SPDYE1

Specialized Databases showing SPDYE1

Licensable Technologies
for SPDYE1

Services
for SPDYE1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

SPDYE1 Gene

protein-coding GIFtS: 29

Aliases & Descriptionsfor SPDYE1

Summariesfor SPDYE1

Genomic Locationfor SPDYE1

Proteinsfor SPDYE1

Protein Domains/Familiesfor SPDYE1

Gene Functionfor SPDYE1

Pathways & Interactionsfor SPDYE1

Drugs & Compoundsfor SPDYE1

Transcriptsfor SPDYE1

Expression for SPDYE1

Orthologsfor SPDYE1

Paralogsfor SPDYE1

SNPs/Variantsfor SPDYE1

Disorders & Mutationsfor SPDYE1

Medical Newsfor SPDYE1

Publicationsfor SPDYE1

Search for SPDYE1

Genome Databases showing SPDYE1

Other Databases showing SPDYE1

Specialized Databases showing SPDYE1

Licensable Technologiesfor SPDYE1

Servicesfor SPDYE1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for SPDYE1

Summaries
for SPDYE1

Genomic Location
for SPDYE1

Proteins
for SPDYE1

Protein Domains/
Families
for SPDYE1

Gene Function
for SPDYE1

Pathways & Interactions
for SPDYE1

Drugs & Compounds
for SPDYE1

Transcripts
for SPDYE1

Expression
for SPDYE1

Orthologs
for SPDYE1

Paralogs
for SPDYE1

SNPs/Variants
for SPDYE1

Disorders & Mutations
for SPDYE1

Medical News
for SPDYE1

Publications
for SPDYE1

Licensable Technologies
for SPDYE1

Services
for SPDYE1