UniProtKB - Q8NFV5 (SPDE1_HUMAN)
Protein
Speedy protein E1
Gene
SPDYE1
Organism
Homo sapiens (Human)
Status
Functioni
GO - Molecular functioni
- protein kinase binding Source: GO_Central
Enzyme and pathway databases
PathwayCommonsi | Q8NFV5 |
Names & Taxonomyi
Protein namesi | Recommended name: Speedy protein E1CuratedAlternative name(s): Williams-Beuren syndrome chromosomal region 19 protein |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:16408, SPDYE1 |
MIMi | 617623, gene |
neXtProti | NX_Q8NFV5 |
VEuPathDBi | HostDB:ENSG00000136206.3 |
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 syndromeOrganism-specific databases
PharmGKBi | PA38135 |
Miscellaneous databases
Pharosi | Q8NFV5, Tdark |
Genetic variation databases
BioMutai | SPDYE1 |
DMDMi | 296452952 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000322594 | 1 – 336 | Speedy protein E1Add BLAST | 336 |
Proteomic databases
PaxDbi | Q8NFV5 |
PRIDEi | Q8NFV5 |
ProteomicsDBi | 73369 |
PTM databases
iPTMneti | Q8NFV5 |
PhosphoSitePlusi | Q8NFV5 |
Expressioni
Tissue specificityi
Predominantly expressed in testis and heart.1 Publication
Gene expression databases
Bgeei | ENSG00000136206, Expressed in left testis and 108 other tissues |
ExpressionAtlasi | Q8NFV5, baseline and differential |
Genevisiblei | Q8NFV5, HS |
Organism-specific databases
HPAi | ENSG00000136206, Tissue enhanced (testis) |
Interactioni
GO - Molecular functioni
- protein kinase binding Source: GO_Central
Protein-protein interaction databases
STRINGi | 9606.ENSP00000258704 |
Miscellaneous databases
RNActi | Q8NFV5, protein |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 237 – 297 | Arg-richAdd BLAST | 61 |
Sequence similaritiesi
Belongs to the Speedy/Ringo family.Curated
Phylogenomic databases
eggNOGi | ENOG502SSQN, Eukaryota |
GeneTreei | ENSGT00940000154173 |
HOGENOMi | CLU_070353_0_0_1 |
InParanoidi | Q8NFV5 |
OMAi | WWDKSEE |
OrthoDBi | 1480540at2759 |
PhylomeDBi | Q8NFV5 |
TreeFami | TF329827 |
Family and domain databases
InterProi | View protein in InterPro IPR020984, Speedy |
PANTHERi | PTHR31156, PTHR31156, 2 hits |
Pfami | View protein in Pfam PF11357, Spy1, 2 hits |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q8NFV5-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A494C1S0 | A0A494C1S0_HUMAN | Speedy protein E1 | SPDYE1 | 376 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 58 | T → M in AAM62309 (PubMed:12073013).Curated | 1 | |
Sequence conflicti | 76 | L → P in AAM62309 (PubMed:12073013).Curated | 1 |
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 |
Genome annotation databases
Ensembli | ENST00000258704; ENSP00000258704; ENSG00000136206 |
GeneIDi | 285955 |
KEGGi | hsa:285955 |
UCSCi | uc003tjf.4, human |
Similar proteinsi
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 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
STRINGi | 9606.ENSP00000258704 |
PTM databases
iPTMneti | Q8NFV5 |
PhosphoSitePlusi | Q8NFV5 |
Genetic variation databases
BioMutai | SPDYE1 |
DMDMi | 296452952 |
Proteomic databases
PaxDbi | Q8NFV5 |
PRIDEi | Q8NFV5 |
ProteomicsDBi | 73369 |
Protocols and materials databases
Antibodypediai | 66743, 90 antibodies |
DNASUi | 285955 |
Genome annotation databases
Ensembli | ENST00000258704; ENSP00000258704; ENSG00000136206 |
GeneIDi | 285955 |
KEGGi | hsa:285955 |
UCSCi | uc003tjf.4, human |
Organism-specific databases
CTDi | 285955 |
GeneCardsi | SPDYE1 |
HGNCi | HGNC:16408, SPDYE1 |
HPAi | ENSG00000136206, Tissue enhanced (testis) |
MIMi | 617623, gene |
neXtProti | NX_Q8NFV5 |
PharmGKBi | PA38135 |
VEuPathDBi | HostDB:ENSG00000136206.3 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502SSQN, Eukaryota |
GeneTreei | ENSGT00940000154173 |
HOGENOMi | CLU_070353_0_0_1 |
InParanoidi | Q8NFV5 |
OMAi | WWDKSEE |
OrthoDBi | 1480540at2759 |
PhylomeDBi | Q8NFV5 |
TreeFami | TF329827 |
Enzyme and pathway databases
PathwayCommonsi | Q8NFV5 |
Miscellaneous databases
BioGRID-ORCSi | 285955, 420 hits in 842 CRISPR screens |
GenomeRNAii | 285955 |
Pharosi | Q8NFV5, Tdark |
PROi | PR:Q8NFV5 |
RNActi | Q8NFV5, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000136206, Expressed in left testis and 108 other tissues |
ExpressionAtlasi | Q8NFV5, baseline and differential |
Genevisiblei | Q8NFV5, HS |
Family and domain databases
InterProi | View protein in InterPro IPR020984, Speedy |
PANTHERi | PTHR31156, PTHR31156, 2 hits |
Pfami | View protein in Pfam PF11357, Spy1, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SPDE1_HUMAN | |
Accessioni | Q8NFV5Primary (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: | February 10, 2021 | |
This is version 104 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families