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Q8NFV5

- SPDE1_HUMAN

UniProt

Q8NFV5 - SPDE1_HUMAN

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Protein

Speedy protein E1

Gene

SPDYE1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Speedy protein E1
Alternative name(s):
Williams-Beuren syndrome chromosomal region 19 protein
Gene namesi
Name:SPDYE1
Synonyms:WBSCR19
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:16408. SPDYE1.

Pathology & Biotechi

Involvement in diseasei

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.

Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

PharmGKBiPA38135.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 336336Speedy protein E1PRO_0000322594Add
BLAST

Proteomic databases

PaxDbiQ8NFV5.
PRIDEiQ8NFV5.

PTM databases

PhosphoSiteiQ8NFV5.

Expressioni

Gene expression databases

BgeeiQ8NFV5.
CleanExiHS_WBSCR19.
GenevestigatoriQ8NFV5.

Structurei

3D structure databases

ProteinModelPortaliQ8NFV5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi237 – 29761Arg-richAdd
BLAST

Sequence similaritiesi

Belongs to the Speedy/Ringo family.Curated

Phylogenomic databases

eggNOGiNOG26741.
GeneTreeiENSGT00420000029723.
HOGENOMiHOG000132466.
InParanoidiQ8NFV5.
OMAiWDKSEES.
OrthoDBiEOG700895.
PhylomeDBiQ8NFV5.
TreeFamiTF329827.

Family and domain databases

InterProiIPR020984. Cell_cycle_regulatory_Spy1.
[Graphical view]
PfamiPF11357. Spy1. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8NFV5-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MQKHYTVAWF LYSAPGVDPS PPCRSLGWKR KREWSDESEE EPEKELAPEP
60 70 80 90 100
EETWVVETLC GLKMKLKQQR VSPILLEHHK DFNSQLAPGV DPSPPHRSFC
110 120 130 140 150
WKRKMEWWDK SEESEEEPRK VLAPEPEEIW VAEMLCGLKM KLKRRRVSLV
160 170 180 190 200
LPEHHEAFNR LLEDPVIKRF LAWDKDLRVS DKYLLAMVIA YFSRAGFPSW
210 220 230 240 250
QYQRLHFFLA LYLANDMEED DEDSKQNIFH FLYGKNRSRI PLLRKRRFQL
260 270 280 290 300
YRSMNPRARK NRSHIPLVRK RRFQLRRCMN PRARKNRSQI VLFQKRRFHF
310 320 330
FCSMSCRAWV SPEELEEIQA YDPEHWVWAR DRARLS
Length:336
Mass (Da):40,668
Last modified:May 18, 2010 - v3
Checksum:i170B9D966BD4305C
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti58 – 581T → M in AAM62309. (PubMed:12073013)Curated
Sequence conflicti76 – 761L → P in AAM62309. (PubMed:12073013)Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF412027 mRNA. Translation: AAM62309.1.
AC004951 Genomic DNA. No translation available.
AL137266 mRNA. Translation: CAB70665.1.
CCDSiCCDS5475.1.
PIRiT46338.
RefSeqiNP_778234.2. NM_175064.2.
UniGeneiHs.645483.

Genome annotation databases

EnsembliENST00000258704; ENSP00000258704; ENSG00000136206.
GeneIDi285955.
KEGGihsa:285955.
UCSCiuc003tjf.3. human.

Polymorphism databases

DMDMi296452952.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF412027 mRNA. Translation: AAM62309.1 .
AC004951 Genomic DNA. No translation available.
AL137266 mRNA. Translation: CAB70665.1 .
CCDSi CCDS5475.1.
PIRi T46338.
RefSeqi NP_778234.2. NM_175064.2.
UniGenei Hs.645483.

3D structure databases

ProteinModelPortali Q8NFV5.
ModBasei Search...
MobiDBi Search...

PTM databases

PhosphoSitei Q8NFV5.

Polymorphism databases

DMDMi 296452952.

Proteomic databases

PaxDbi Q8NFV5.
PRIDEi Q8NFV5.

Protocols and materials databases

DNASUi 285955.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000258704 ; ENSP00000258704 ; ENSG00000136206 .
GeneIDi 285955.
KEGGi hsa:285955.
UCSCi uc003tjf.3. human.

Organism-specific databases

CTDi 285955.
GeneCardsi GC07P044040.
H-InvDB HIX0006637.
HIX0033719.
HIX0167618.
HGNCi HGNC:16408. SPDYE1.
neXtProti NX_Q8NFV5.
PharmGKBi PA38135.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG26741.
GeneTreei ENSGT00420000029723.
HOGENOMi HOG000132466.
InParanoidi Q8NFV5.
OMAi WDKSEES.
OrthoDBi EOG700895.
PhylomeDBi Q8NFV5.
TreeFami TF329827.

Miscellaneous databases

GenomeRNAii 285955.
NextBioi 95875.
PROi Q8NFV5.

Gene expression databases

Bgeei Q8NFV5.
CleanExi HS_WBSCR19.
Genevestigatori Q8NFV5.

Family and domain databases

InterProi IPR020984. Cell_cycle_regulatory_Spy1.
[Graphical view ]
Pfami PF11357. Spy1. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 29-336.
    Tissue: Testis.

Entry informationi

Entry nameiSPDE1_HUMAN
AccessioniPrimary (citable) accession number: Q8NFV5
Secondary accession number(s): Q9NTH5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: May 18, 2010
Last modified: October 29, 2014
This is version 67 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3