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Q8NFV5 (SPDE1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified February 19, 2014. Version 64. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Speedy protein E1
Alternative name(s):
Williams-Beuren syndrome chromosomal region 19 protein
Gene names
Name:SPDYE1
Synonyms:WBSCR19
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length336 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Involvement in disease

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.

Sequence similarities

Belongs to the Speedy/Ringo family.

Ontologies

Keywords
   DiseaseWilliams-Beuren syndrome
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 336336Speedy protein E1
PRO_0000322594

Regions

Compositional bias237 – 29761Arg-rich

Experimental info

Sequence conflict581T → M in AAM62309. Ref.1
Sequence conflict761L → P in AAM62309. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q8NFV5 [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: 170B9D966BD4305C

FASTA33640,668
        10         20         30         40         50         60 
MQKHYTVAWF LYSAPGVDPS PPCRSLGWKR KREWSDESEE EPEKELAPEP EETWVVETLC 

        70         80         90        100        110        120 
GLKMKLKQQR VSPILLEHHK DFNSQLAPGV DPSPPHRSFC WKRKMEWWDK SEESEEEPRK 

       130        140        150        160        170        180 
VLAPEPEEIW VAEMLCGLKM KLKRRRVSLV LPEHHEAFNR LLEDPVIKRF LAWDKDLRVS 

       190        200        210        220        230        240 
DKYLLAMVIA YFSRAGFPSW QYQRLHFFLA LYLANDMEED DEDSKQNIFH FLYGKNRSRI 

       250        260        270        280        290        300 
PLLRKRRFQL YRSMNPRARK NRSHIPLVRK RRFQLRRCMN PRARKNRSQI VLFQKRRFHF 

       310        320        330 
FCSMSCRAWV SPEELEEIQA YDPEHWVWAR DRARLS 

« Hide

References

« Hide 'large scale' references
[1]"Identification of additional transcripts in the Williams-Beuren syndrome critical region."
Merla G., Ucla C., Guipponi M., Reymond A.
Hum. Genet. 110:429-438(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 29-336.
Tissue: Testis.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF412027 mRNA. Translation: AAM62309.1.
AC004951 Genomic DNA. No translation available.
AL137266 mRNA. Translation: CAB70665.1.
PIRT46338.
RefSeqNP_778234.2. NM_175064.2.
UniGeneHs.645483.

3D structure databases

ProteinModelPortalQ8NFV5.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ8NFV5.

Polymorphism databases

DMDM296452952.

Proteomic databases

PaxDbQ8NFV5.
PRIDEQ8NFV5.

Protocols and materials databases

DNASU285955.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000258704; ENSP00000258704; ENSG00000136206.
GeneID285955.
KEGGhsa:285955.
UCSCuc003tjf.3. human.

Organism-specific databases

CTD285955.
GeneCardsGC07P044040.
H-InvDBHIX0006637.
HIX0033719.
HIX0167618.
HGNCHGNC:16408. SPDYE1.
neXtProtNX_Q8NFV5.
PharmGKBPA38135.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG26741.
HOGENOMHOG000132466.
InParanoidQ8NFV5.
OMAWDKSEES.
OrthoDBEOG700895.
PhylomeDBQ8NFV5.
TreeFamTF329827.

Gene expression databases

BgeeQ8NFV5.
CleanExHS_WBSCR19.
GenevestigatorQ8NFV5.

Family and domain databases

InterProIPR020984. Cell_cycle_regulatory_Spy1.
[Graphical view]
PfamPF11357. Spy1. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi285955.
NextBio95875.
PROQ8NFV5.

Entry information

Entry nameSPDE1_HUMAN
AccessionPrimary (citable) accession number: Q8NFV5
Secondary accession number(s): Q9NTH5
Entry history
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: May 18, 2010
Last modified: February 19, 2014
This is version 64 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM