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Q8NFV5

- SPDE1_HUMAN

UniProt

Q8NFV5 - SPDE1_HUMAN

Protein

Speedy protein E1

Gene

SPDYE1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 66 (01 Oct 2014)
      Sequence version 3 (18 May 2010)
      Previous versions | rss
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    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.
    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

    MQKHYTVAWF LYSAPGVDPS PPCRSLGWKR KREWSDESEE EPEKELAPEP    50
    EETWVVETLC GLKMKLKQQR VSPILLEHHK DFNSQLAPGV DPSPPHRSFC 100
    WKRKMEWWDK SEESEEEPRK VLAPEPEEIW VAEMLCGLKM KLKRRRVSLV 150
    LPEHHEAFNR LLEDPVIKRF LAWDKDLRVS DKYLLAMVIA YFSRAGFPSW 200
    QYQRLHFFLA LYLANDMEED DEDSKQNIFH FLYGKNRSRI PLLRKRRFQL 250
    YRSMNPRARK NRSHIPLVRK RRFQLRRCMN PRARKNRSQI VLFQKRRFHF 300
    FCSMSCRAWV SPEELEEIQA YDPEHWVWAR DRARLS 336
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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.
    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

    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 1, 2014
    This is version 66 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