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UniProtKB - O43791 (SPOP_HUMAN)

Entry version 192 (02 Dec 2020)
Sequence version 1 (01 Jun 1998)
Previous versions | rss
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Protein

Speckle-type POZ protein

Gene

SPOP

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

Annotation score:5 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 protein 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

Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination of target proteins, leading most often to their proteasomal degradation. In complex with CUL3, involved in ubiquitination and proteasomal degradation of BRMS1, DAXX, PDX1/IPF1, GLI2 and GLI3. In complex with CUL3, involved in ubiquitination of MACROH2A1 and BMI1; this does not lead to their proteasomal degradation. Inhibits transcriptional activation of PDX1/IPF1 targets, such as insulin, by promoting PDX1/IPF1 degradation. The cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex containing homodimeric SPOP has higher ubiquitin ligase activity than the complex that contains the heterodimer formed by SPOP and SPOPL. Involved in the regulation of bromodomain and extra-terminal motif (BET) proteins BRD2, BRD3, BRD4 stability (PubMed:32109420).7 Publications

Miscellaneous

Antigen recognized by serum from scleroderma patient.

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.7 Publications
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

<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 ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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>Keywordsi

Biological processUbl conjugation pathway

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		6.3.2.19, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O43791

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5632684, Hedgehog 'on' state

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		O43791

SIGNOR Signaling Network Open Resource

More...SIGNORi		O43791

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00143

<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%5Fand%5Ftaxonomy%5Fsection">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:
Speckle-type POZ proteinCurated
Alternative name(s):
HIB homolog 1
Roadkill homolog 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:SPOPImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 17

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000121067.17

Human Gene Nomenclature Database

More...HGNCi		HGNC:11254, SPOP

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		602650, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O43791

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<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

Nabais Sa-de Vries syndrome 1 (NSDVS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by global developmental delay, impaired intellectual development, speech delay, and variable behavioral abnormalities. Affected individuals show congenital microcephaly and dysmorphic facial features, including round face, small palpebral fissures, highly arched eyebrows, and short nose.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_083853121R → Q in NSDVS1; gain-of-function, reduced BET proteins stability. 1 Publication1
Natural variantiVAR_083856144D → N in NSDVS1; gain-of-function, reduced BET proteins stability. 1 Publication1
Nabais Sa-de Vries syndrome 2 (NSDVS2)1 Publication
The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by global developmental delay apparent from birth, impaired intellectual development, speech delay, dysmorphic facial features, and additional anomalies including congenital heart defects, sleep disturbances, hypotonia, and variable endocrine abnormalities.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08385125T → A in NSDVS2; dominant-negative, increased BET proteins stability. 1 Publication1
Natural variantiVAR_08385283Y → C in NSDVS2; dominant-negative, increased BET proteins stability. 1 Publication1
Natural variantiVAR_083854132G → V in NSDVS2; dominant-negative, increased BET proteins stability. 1 Publication1
Natural variantiVAR_083855138R → C in NSDVS2; dominant-negative, increased BET proteins stability. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi87Y → A: Strongly reduced affinity for substrate proteins. 1 Publication1
Mutagenesisi123Y → A: Strongly reduced affinity for substrate proteins. 1 Publication1
Mutagenesisi130D → A: Strongly reduced affinity for substrate proteins. 1 Publication1
Mutagenesisi131W → A: Strongly reduced affinity for substrate proteins. 1 Publication1
Mutagenesisi133F → A: Strongly reduced affinity for substrate proteins. 1 Publication1
Mutagenesisi186L → D: Strongly reduced homodimerization. Reduces the activity of the cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex. 1 Publication1
Mutagenesisi190L → D: Strongly reduced homodimerization. Reduces the activity of the cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex. 1 Publication1
Mutagenesisi193L → D: Strongly reduced homodimerization. Reduces the activity of the cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex. 1 Publication1
Mutagenesisi217I → K: Strongly reduced homodimerization. Reduces the activity of the cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex. 1 Publication1

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		8405

MalaCards human disease database

More...MalaCardsi		SPOP
MIMi618828, phenotype
618829, phenotype

Open Targets

More...OpenTargetsi		ENSG00000121067

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA36084

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O43791, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SPOP

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001916211 – 374Speckle-type POZ proteinAdd BLAST374

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O43791

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O43791

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O43791

MaxQB - The MaxQuant DataBase

More...MaxQBi		O43791

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

More...PaxDbi		O43791

PeptideAtlas

More...PeptideAtlasi		O43791

PRoteomics IDEntifications database

More...PRIDEi		O43791

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		49171

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O43791

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

More...PhosphoSitePlusi		O43791

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000121067, Expressed in vagina and 253 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O43791, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O43791, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000121067, Low tissue specificity

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with GLI2 and GLI3 (By similarity). Homodimer and homooligomer. Heterodimer with SPOPL. Each dimer interacts with two CUL3 molecules. Part of cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complexes that contain CUL3 and homodimeric SPOP, or the heterodimer formed by SPOP and SPOPL, plus a target protein, such as MACROH2A1, PDX1/IPF1, BMI1, BRMS1 and DAXX.

By similarity7 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		113993, 108 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		O43791

Database of interacting proteins

More...DIPi		DIP-50517N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		O43791

Protein interaction database and analysis system

More...IntActi		O43791, 37 interactors

Molecular INTeraction database

More...MINTi		O43791

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000377001

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O43791, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1374
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		O43791

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		O43791

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini31 – 161MATHPROSITE-ProRule annotationAdd BLAST131
Domaini173 – 297BTBPROSITE-ProRule annotationAdd BLAST125

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni71 – 191Required for nuclear localizationAdd BLAST121
Regioni123 – 133Important for binding substrate proteinsAdd BLAST11
Regioni186 – 217Important for homodimerizationAdd BLAST32
Regioni297 – 355Important for homodimerizationAdd BLAST59

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The BTB (POZ) domain mediates dimerization and interaction with CUL3.1 Publication
The MATH domain mediates interaction with protein-ubiquitin ligase substrates, such as MACROH2A1 and BMI1.1 Publication

<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 Tdpoz family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1987, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154376

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_004253_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O43791

Identification of Orthologs from Complete Genome Data

More...OMAi		MCEQALC

Database of Orthologous Groups

More...OrthoDBi		864323at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O43791

TreeFam database of animal gene trees

More...TreeFami		TF313419

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.210.10, 1 hit

Intrinsically Disordered proteins with Extensive Annotations and Literature

More...IDEALi		IID00529

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000210, BTB/POZ_dom
IPR002083, MATH/TRAF_dom
IPR011333, SKP1/BTB/POZ_sf
IPR008974, TRAF-like

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00651, BTB, 1 hit
PF00917, MATH, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00225, BTB, 1 hit
SM00061, MATH, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF49599, SSF49599, 1 hit
SSF54695, SSF54695, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50097, BTB, 1 hit
PS50144, MATH, 1 hit

<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%5Flength">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 9 potential isoforms that are computationally mapped.Show allAlign All

O43791-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSRVPSPPPP AEMSSGPVAE SWCYTQIKVV KFSYMWTINN FSFCREEMGE 
        60         70         80         90        100
VIKSSTFSSG ANDKLKWCLR VNPKGLDEES KDYLSLYLLL VSCPKSEVRA 
       110        120        130        140        150
KFKFSILNAK GEETKAMESQ RAYRFVQGKD WGFKKFIRRD FLLDEANGLL 
       160        170        180        190        200
PDDKLTLFCE VSVVQDSVNI SGQNTMNMVK VPECRLADEL GGLWENSRFT 
       210        220        230        240        250
DCCLCVAGQE FQAHKAILAA RSPVFSAMFE HEMEESKKNR VEINDVEPEV 
       260        270        280        290        300
FKEMMCFIYT GKAPNLDKMA DDLLAAADKY ALERLKVMCE DALCSNLSVE 
       310        320        330        340        350
NAAEILILAD LHSADQLKTQ AVDFINYHAS DVLETSGWKS MVVSHPHLVA 
       360        370 
EAYRSLASAQ CPFLGPPRKR LKQS
Length:374
Mass (Da):42,132
Last modified:June 1, 1998 - v1
<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:iEE5F4C5CF6FD09DC
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 are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RDG8D6RDG8_HUMAN
Speckle-type POZ protein
SPOP
238Annotation 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>
D6RGZ4D6RGZ4_HUMAN
Speckle-type POZ protein
SPOP
185Annotation 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>
H0Y977H0Y977_HUMAN
Speckle-type POZ protein
SPOP
72Annotation 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>
D6RFL7D6RFL7_HUMAN
Speckle-type POZ protein
SPOP
117Annotation 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>
D6RD94D6RD94_HUMAN
Speckle-type POZ protein
SPOP
66Annotation 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>
D6RIS7D6RIS7_HUMAN
Speckle-type POZ protein
SPOP
40Annotation 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>
D6RA79D6RA79_HUMAN
Speckle-type POZ protein
SPOP
32Annotation 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>
D6RBR3D6RBR3_HUMAN
Speckle-type POZ protein
SPOP
44Annotation 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>
A0A590UJA7A0A590UJA7_HUMAN
Speckle-type POZ protein
SPOP
165Annotation 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 conflicti239N → S in BAD96309 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08385125T → A in NSDVS2; dominant-negative, increased BET proteins stability. 1 Publication1
Natural variantiVAR_08385283Y → C in NSDVS2; dominant-negative, increased BET proteins stability. 1 Publication1
Natural variantiVAR_083853121R → Q in NSDVS1; gain-of-function, reduced BET proteins stability. 1 Publication1
Natural variantiVAR_083854132G → V in NSDVS2; dominant-negative, increased BET proteins stability. 1 Publication1
Natural variantiVAR_083855138R → C in NSDVS2; dominant-negative, increased BET proteins stability. 1 Publication1
Natural variantiVAR_083856144D → N in NSDVS1; gain-of-function, reduced BET proteins stability. 1 Publication1

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
AJ000644 mRNA Translation: CAA04199.1
AK222589 mRNA Translation: BAD96309.1
AK312691 mRNA Translation: BAG35570.1
CH471109 Genomic DNA Translation: EAW94671.1
CH471109 Genomic DNA Translation: EAW94672.1
CH471109 Genomic DNA Translation: EAW94673.1
CH471109 Genomic DNA Translation: EAW94674.1
CH471109 Genomic DNA Translation: EAW94675.1
BC001269 mRNA Translation: AAH01269.1
BC003385 mRNA Translation: AAH03385.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11551.1

NCBI Reference Sequences

More...RefSeqi		NP_001007227.1, NM_001007226.1
NP_001007228.1, NM_001007227.1
NP_001007229.1, NM_001007228.1
NP_001007230.1, NM_001007229.1
NP_001007231.1, NM_001007230.1
NP_003554.1, NM_003563.3
XP_005257780.1, XM_005257723.4
XP_005257781.1, XM_005257724.4
XP_016880693.1, XM_017025204.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000347630; ENSP00000240327; ENSG00000121067
ENST00000393328; ENSP00000377001; ENSG00000121067
ENST00000503676; ENSP00000420908; ENSG00000121067
ENST00000504102; ENSP00000425905; ENSG00000121067
ENST00000509079; ENSP00000426986; ENSG00000121067
ENST00000514121; ENSP00000424119; ENSG00000121067
ENST00000665825; ENSP00000499562; ENSG00000121067

Database of genes from NCBI RefSeq genomes

More...GeneIDi		8405

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:8405

UCSC genome browser

More...UCSCi		uc002ipd.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
AJ000644 mRNA Translation: CAA04199.1
AK222589 mRNA Translation: BAD96309.1
AK312691 mRNA Translation: BAG35570.1
CH471109 Genomic DNA Translation: EAW94671.1
CH471109 Genomic DNA Translation: EAW94672.1
CH471109 Genomic DNA Translation: EAW94673.1
CH471109 Genomic DNA Translation: EAW94674.1
CH471109 Genomic DNA Translation: EAW94675.1
BC001269 mRNA Translation: AAH01269.1
BC003385 mRNA Translation: AAH03385.1
CCDSiCCDS11551.1
RefSeqiNP_001007227.1, NM_001007226.1
NP_001007228.1, NM_001007227.1
NP_001007229.1, NM_001007228.1
NP_001007230.1, NM_001007229.1
NP_001007231.1, NM_001007230.1
NP_003554.1, NM_003563.3
XP_005257780.1, XM_005257723.4
XP_005257781.1, XM_005257724.4
XP_016880693.1, XM_017025204.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CR2NMR-A28-173[»]
3HQHX-ray2.30A28-166[»]
3HQIX-ray2.62A/B28-329[»]
3HQLX-ray1.66A/B28-166[»]
3HQMX-ray1.74A/B28-166[»]
3HSVX-ray1.43A/B28-166[»]
3HTMX-ray2.50A/B/C/D172-329[»]
3HU6X-ray2.70A/B28-329[»]
3IVBX-ray1.75A28-166[»]
3IVQX-ray2.10A/B28-166[»]
3IVVX-ray1.25A28-166[»]
4EOZX-ray2.40A/C177-319[»]
4HS2X-ray1.53A270-374[»]
4J8ZX-ray2.42A/B169-374[»]
4O1VX-ray2.00A28-166[»]
6F8FX-ray2.00D28-166[»]
6F8GX-ray2.03A/B/C/D28-166[»]
6I41X-ray1.90A28-166[»]
6I5PX-ray1.81A/C/E/G28-166[»]
6I68X-ray1.85A/C/E/G28-166[»]
6I7AX-ray2.20A/C/E/G28-166[»]
SMRiO43791
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi113993, 108 interactors
CORUMiO43791
DIPiDIP-50517N
ELMiO43791
IntActiO43791, 37 interactors
MINTiO43791
STRINGi9606.ENSP00000377001

PTM databases

iPTMnetiO43791
PhosphoSitePlusiO43791

Polymorphism and mutation databases

BioMutaiSPOP

Proteomic databases

EPDiO43791
jPOSTiO43791
MassIVEiO43791
MaxQBiO43791
PaxDbiO43791
PeptideAtlasiO43791
PRIDEiO43791
ProteomicsDBi49171

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		30402, 192 antibodies

The DNASU plasmid repository

More...DNASUi		8405

Genome annotation databases

EnsembliENST00000347630; ENSP00000240327; ENSG00000121067
ENST00000393328; ENSP00000377001; ENSG00000121067
ENST00000503676; ENSP00000420908; ENSG00000121067
ENST00000504102; ENSP00000425905; ENSG00000121067
ENST00000509079; ENSP00000426986; ENSG00000121067
ENST00000514121; ENSP00000424119; ENSG00000121067
ENST00000665825; ENSP00000499562; ENSG00000121067
GeneIDi8405
KEGGihsa:8405
UCSCiuc002ipd.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		8405
DisGeNETi8405
EuPathDBiHostDB:ENSG00000121067.17

GeneCards: human genes, protein and diseases

More...GeneCardsi		SPOP
HGNCiHGNC:11254, SPOP
HPAiENSG00000121067, Low tissue specificity
MalaCardsiSPOP
MIMi602650, gene
618828, phenotype
618829, phenotype
neXtProtiNX_O43791
OpenTargetsiENSG00000121067
PharmGKBiPA36084

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1987, Eukaryota
GeneTreeiENSGT00940000154376
HOGENOMiCLU_004253_2_0_1
InParanoidiO43791
OMAiMCEQALC
OrthoDBi864323at2759
PhylomeDBiO43791
TreeFamiTF313419

Enzyme and pathway databases

UniPathwayiUPA00143
BRENDAi6.3.2.19, 2681
PathwayCommonsiO43791
ReactomeiR-HSA-5632684, Hedgehog 'on' state
SignaLinkiO43791
SIGNORiO43791

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		8405, 41 hits in 851 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SPOP, human
EvolutionaryTraceiO43791

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SPOP

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

More...GenomeRNAii		8405
PharosiO43791, Tbio

Protein Ontology

More...PROi		PR:O43791
RNActiO43791, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000121067, Expressed in vagina and 253 other tissues
ExpressionAtlasiO43791, baseline and differential
GenevisibleiO43791, HS

Family and domain databases

Gene3Di2.60.210.10, 1 hit
IDEALiIID00529
InterProiView protein in InterPro
IPR000210, BTB/POZ_dom
IPR002083, MATH/TRAF_dom
IPR011333, SKP1/BTB/POZ_sf
IPR008974, TRAF-like
PfamiView protein in Pfam
PF00651, BTB, 1 hit
PF00917, MATH, 1 hit
SMARTiView protein in SMART
SM00225, BTB, 1 hit
SM00061, MATH, 1 hit
SUPFAMiSSF49599, SSF49599, 1 hit
SSF54695, SSF54695, 1 hit
PROSITEiView protein in PROSITE
PS50097, BTB, 1 hit
PS50144, MATH, 1 hit

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 nameiSPOP_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: O43791
Secondary accession number(s): B2R6S3, D3DTW7, Q53HJ1
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: June 1, 1998
Last modified: December 2, 2020
This is version 192 of the entry and version 1 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

3D-structure, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families
  6. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  7. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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