Q8NFV5 (SPDE1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Speedy protein E1

Alternative name(s):
Williams-Beuren syndrome chromosomal region 19 protein

Gene names

Name:	SPDYE1
Synonyms:	WBSCR19

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	336 AA.
Sequence status	Complete.
Protein existence	Evidence 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
Disease	Williams-Beuren syndrome
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 336	336	Speedy protein E1		PRO_0000322594
Regions
	Compositional bias	237 – 297	61	Arg-rich
Experimental info
	Sequence conflict	58	1	T → M in AAM62309. Ref.1
	Sequence conflict	76	1	L → P in AAM62309. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q8NFV5 [UniParc]. Last modified May 18, 2010. Version 3. Checksum: 170B9D966BD4305C	FASTA	336	40,668
	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

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00793871.
PIR	T46338.
RefSeq	NP_778234.2. NM_175064.2.
UniGene	Hs.645483.
3D structure databases
ProteinModelPortal	Q8NFV5.
ModBase	Search...
PTM databases
PhosphoSite	Q8NFV5.
Polymorphism databases
DMDM	296452952.
Proteomic databases
PaxDb	Q8NFV5.
PRIDE	Q8NFV5.
Protocols and materials databases
DNASU	285955.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000258704; ENSP00000258704; ENSG00000136206.
GeneID	285955.
KEGG	hsa:285955.
UCSC	uc003tjf.3. human.
Organism-specific databases
CTD	285955.
GeneCards	GC07P044040.
H-InvDB	HIX0006637. HIX0033719. HIX0167618.
HGNC	HGNC:16408. SPDYE1.
neXtProt	NX_Q8NFV5.
PharmGKB	PA38135.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG26741.
HOGENOM	HOG000132466.
InParanoid	Q8NFV5.
OMA	WDKSEES.
OrthoDB	EOG4M91RX.
PhylomeDB	Q8NFV5.
Gene expression databases
Bgee	Q8NFV5.
CleanEx	HS_WBSCR19.
Genevestigator	Q8NFV5.
Family and domain databases
InterPro	IPR020984. Cell_cycle_regulatory_Spy1. [Graphical view]
Pfam	PF11357. Spy1. 2 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	285955.
NextBio	95875.

Entry information

Entry name

SPDE1_HUMAN

Accession

Primary (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:	April 3, 2013
This is version 60 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.