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UniProtKB - Q8NFV5 (SPDE1_HUMAN)

Entry version 98 (11 Dec 2019)
Sequence version 3 (18 May 2010)
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Protein

Speedy protein E1

Gene

SPDYE1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at transcript leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Speedy protein E1
Alternative name(s):
Williams-Beuren syndrome chromosomal region 19 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SPDYE1
Synonyms:WBSCR19
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000136206.3

Human Gene Nomenclature Database

More...HGNCi		HGNC:16408 SPDYE1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		617623 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8NFV5

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA38135

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8NFV5 Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SPDYE1

Domain mapping of disease mutations (DMDM)

More...DMDMi		296452952

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003225941 – 336Speedy protein E1Add BLAST336

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q8NFV5

PRoteomics IDEntifications database

More...PRIDEi		Q8NFV5

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		73369

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8NFV5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q8NFV5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000136206 Expressed in 84 organ(s), highest expression level in right testis

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8NFV5 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA051750

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000258704

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8NFV5 protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi237 – 297Arg-richAdd BLAST61

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the Speedy/Ringo family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IX6P Eukaryota
ENOG41119TB LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154173

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000132466

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8NFV5

KEGG Orthology (KO)

More...KOi		K08694

Identification of Orthologs from Complete Genome Data

More...OMAi		WWDKSEE

Database of Orthologous Groups

More...OrthoDBi		1480540at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8NFV5

TreeFam database of animal gene trees

More...TreeFami		TF329827

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR020984 Speedy

The PANTHER Classification System

More...PANTHERi		PTHR31156 PTHR31156, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF11357 Spy1, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
« 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i170B9D966BD4305C
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A494C1S0A0A494C1S0_HUMAN
Speedy protein E1
SPDYE1
376Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti58T → M in AAM62309 (PubMed:12073013).Curated1
Sequence conflicti76L → P in AAM62309 (PubMed:12073013).Curated1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF412027 mRNA Translation: AAM62309.1
AC004951 Genomic DNA No translation available.
AL137266 mRNA Translation: CAB70665.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS5475.1

Protein sequence database of the Protein Information Resource

More...PIRi		T46338

NCBI Reference Sequences

More...RefSeqi		NP_778234.2, NM_175064.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000258704; ENSP00000258704; ENSG00000136206

Database of genes from NCBI RefSeq genomes

More...GeneIDi		285955

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:285955

UCSC genome browser

More...UCSCi		uc003tjf.4 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS5475.1
PIRiT46338
RefSeqiNP_778234.2, NM_175064.2

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

STRINGi9606.ENSP00000258704

PTM databases

iPTMnetiQ8NFV5
PhosphoSitePlusiQ8NFV5

Polymorphism and mutation databases

BioMutaiSPDYE1
DMDMi296452952

Proteomic databases

PaxDbiQ8NFV5
PRIDEiQ8NFV5
ProteomicsDBi73369

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		285955

Genome annotation databases

EnsembliENST00000258704; ENSP00000258704; ENSG00000136206
GeneIDi285955
KEGGihsa:285955
UCSCiuc003tjf.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		285955
EuPathDBiHostDB:ENSG00000136206.3

GeneCards: human genes, protein and diseases

More...GeneCardsi		SPDYE1
HGNCiHGNC:16408 SPDYE1
HPAiHPA051750
MIMi617623 gene
neXtProtiNX_Q8NFV5
PharmGKBiPA38135

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IX6P Eukaryota
ENOG41119TB LUCA
GeneTreeiENSGT00940000154173
HOGENOMiHOG000132466
InParanoidiQ8NFV5
KOiK08694
OMAiWWDKSEE
OrthoDBi1480540at2759
PhylomeDBiQ8NFV5
TreeFamiTF329827

Miscellaneous databases

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		285955
PharosiQ8NFV5 Tdark

Protein Ontology

More...PROi		PR:Q8NFV5
RNActiQ8NFV5 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000136206 Expressed in 84 organ(s), highest expression level in right testis
GenevisibleiQ8NFV5 HS

Family and domain databases

InterProiView protein in InterPro
IPR020984 Speedy
PANTHERiPTHR31156 PTHR31156, 1 hit
PfamiView protein in Pfam
PF11357 Spy1, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSPDE1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8NFV5
Secondary accession number(s): Q9NTH5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: May 18, 2010
Last modified: December 11, 2019
This is version 98 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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