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Protein

Speedy protein E1

Gene

SPDYE1

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

Functioni

GO - Molecular functioni

GO - Biological processi

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
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000136206.3
HGNCiHGNC:16408 SPDYE1
MIMi617623 gene
neXtProtiNX_Q8NFV5

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 (PubMed:12073013).1 Publication

Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

PharmGKBiPA38135

Polymorphism and mutation databases

BioMutaiSPDYE1
DMDMi296452952

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003225941 – 336Speedy protein E1Add BLAST336

Proteomic databases

PaxDbiQ8NFV5
PeptideAtlasiQ8NFV5
PRIDEiQ8NFV5
ProteomicsDBi73369

PTM databases

iPTMnetiQ8NFV5
PhosphoSitePlusiQ8NFV5

Expressioni

Gene expression databases

BgeeiENSG00000136206
CleanExiHS_WBSCR19
GenevisibleiQ8NFV5 HS

Organism-specific databases

HPAiHPA051750

Interactioni

GO - Molecular functioni

Structurei

3D structure databases

ProteinModelPortaliQ8NFV5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi237 – 297Arg-richAdd BLAST61

Sequence similaritiesi

Belongs to the Speedy/Ringo family.Curated

Phylogenomic databases

eggNOGiENOG410IX6P Eukaryota
ENOG41119TB LUCA
GeneTreeiENSGT00420000029723
HOGENOMiHOG000132466
InParanoidiQ8NFV5
KOiK08694
OMAiWDKSEES
OrthoDBiEOG091G0MC6
PhylomeDBiQ8NFV5
TreeFamiTF329827

Family and domain databases

InterProiView protein in InterPro
IPR020984 Speedy
PfamiView protein in Pfam
PF11357 Spy1, 2 hits

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)DescriptionActionsGraphical viewLength
Sequence conflicti58T → M in AAM62309 (PubMed:12073013).Curated1
Sequence conflicti76L → P in AAM62309 (PubMed:12073013).Curated1

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.4 human

Similar proteinsi

Entry informationi

Entry nameiSPDE1_HUMAN
AccessioniPrimary (citable) accession number: Q8NFV5
Secondary accession number(s): Q9NTH5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: May 18, 2010
Last modified: June 20, 2018
This is version 87 of the entry and version 3 of the sequence. See 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

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