SPDE1_HUMAN
ID SPDE1_HUMAN Reviewed; 336 AA.
AC Q8NFV5; Q9NTH5;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 110.
DE RecName: Full=Speedy protein E1 {ECO:0000305};
DE AltName: Full=Williams-Beuren syndrome chromosomal region 19 protein;
GN Name=SPDYE1 {ECO:0000312|HGNC:HGNC:16408}; Synonyms=WBSCR19;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND POSSIBLE INVOLVEMENT IN WBS.
RX PubMed=12073013; DOI=10.1007/s00439-002-0710-x;
RA Merla G., Ucla C., Guipponi M., Reymond A.;
RT "Identification of additional transcripts in the Williams-Beuren syndrome
RT critical region.";
RL Hum. Genet. 110:429-438(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 29-336.
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP TISSUE SPECIFICITY.
RX PubMed=22763696; DOI=10.1007/s00018-012-1050-1;
RA Chauhan S., Zheng X., Tan Y.Y., Tay B.H., Lim S., Venkatesh B., Kaldis P.;
RT "Evolution of the Cdk-activator Speedy/RINGO in vertebrates.";
RL Cell. Mol. Life Sci. 69:3835-3850(2012).
CC -!- TISSUE SPECIFICITY: Predominantly expressed in testis and heart.
CC {ECO:0000269|PubMed:22763696}.
CC -!- DISEASE: Note=SPDYE1 is located in the Williams-Beuren syndrome (WBS)
CC critical region. WBS results from a hemizygous deletion of several
CC genes on chromosome 7q11.23, thought to arise as a consequence of
CC unequal crossing over between highly homologous low-copy repeat
CC sequences flanking the deleted region (PubMed:12073013).
CC {ECO:0000269|PubMed:12073013}.
CC -!- SIMILARITY: Belongs to the Speedy/Ringo family. {ECO:0000305}.
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DR EMBL; AF412027; AAM62309.1; -; mRNA.
DR EMBL; AC004951; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL137266; CAB70665.1; -; mRNA.
DR CCDS; CCDS5475.1; -.
DR PIR; T46338; T46338.
DR RefSeq; NP_778234.2; NM_175064.2.
DR AlphaFoldDB; Q8NFV5; -.
DR SMR; Q8NFV5; -.
DR STRING; 9606.ENSP00000258704; -.
DR iPTMnet; Q8NFV5; -.
DR PhosphoSitePlus; Q8NFV5; -.
DR BioMuta; SPDYE1; -.
DR DMDM; 296452952; -.
DR MassIVE; Q8NFV5; -.
DR PaxDb; Q8NFV5; -.
DR PeptideAtlas; Q8NFV5; -.
DR PRIDE; Q8NFV5; -.
DR Antibodypedia; 66743; 90 antibodies from 16 providers.
DR DNASU; 285955; -.
DR Ensembl; ENST00000258704.3; ENSP00000258704.3; ENSG00000136206.5.
DR GeneID; 285955; -.
DR KEGG; hsa:285955; -.
DR UCSC; uc003tjf.4; human.
DR CTD; 285955; -.
DR GeneCards; SPDYE1; -.
DR HGNC; HGNC:16408; SPDYE1.
DR HPA; ENSG00000136206; Tissue enhanced (testis).
DR MIM; 617623; gene.
DR neXtProt; NX_Q8NFV5; -.
DR PharmGKB; PA38135; -.
DR VEuPathDB; HostDB:ENSG00000136206; -.
DR eggNOG; ENOG502SSQN; Eukaryota.
DR GeneTree; ENSGT00940000154173; -.
DR HOGENOM; CLU_070353_0_0_1; -.
DR InParanoid; Q8NFV5; -.
DR OrthoDB; 1480540at2759; -.
DR PhylomeDB; Q8NFV5; -.
DR TreeFam; TF329827; -.
DR PathwayCommons; Q8NFV5; -.
DR BioGRID-ORCS; 285955; 429 hits in 991 CRISPR screens.
DR GenomeRNAi; 285955; -.
DR Pharos; Q8NFV5; Tdark.
DR PRO; PR:Q8NFV5; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q8NFV5; protein.
DR Bgee; ENSG00000136206; Expressed in left testis and 98 other tissues.
DR ExpressionAtlas; Q8NFV5; baseline and differential.
DR Genevisible; Q8NFV5; HS.
DR GO; GO:0019901; F:protein kinase binding; IBA:GO_Central.
DR GO; GO:0045737; P:positive regulation of cyclin-dependent protein serine/threonine kinase activity; IEA:InterPro.
DR InterPro; IPR020984; Speedy.
DR PANTHER; PTHR31156; PTHR31156; 2.
DR Pfam; PF11357; Spy1; 2.
PE 2: Evidence at transcript level;
KW Reference proteome; Williams-Beuren syndrome.
FT CHAIN 1..336
FT /note="Speedy protein E1"
FT /id="PRO_0000322594"
FT REGION 16..50
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 58
FT /note="T -> M (in Ref. 1; AAM62309)"
FT /evidence="ECO:0000305"
FT CONFLICT 76
FT /note="L -> P (in Ref. 1; AAM62309)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 336 AA; 40668 MW; 170B9D966BD4305C CRC64;
MQKHYTVAWF LYSAPGVDPS PPCRSLGWKR KREWSDESEE EPEKELAPEP EETWVVETLC
GLKMKLKQQR VSPILLEHHK DFNSQLAPGV DPSPPHRSFC WKRKMEWWDK SEESEEEPRK
VLAPEPEEIW VAEMLCGLKM KLKRRRVSLV LPEHHEAFNR LLEDPVIKRF LAWDKDLRVS
DKYLLAMVIA YFSRAGFPSW QYQRLHFFLA LYLANDMEED DEDSKQNIFH FLYGKNRSRI
PLLRKRRFQL YRSMNPRARK NRSHIPLVRK RRFQLRRCMN PRARKNRSQI VLFQKRRFHF
FCSMSCRAWV SPEELEEIQA YDPEHWVWAR DRARLS
