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UniProtKB - Q9HC78 (ZBT20_HUMAN)

Entry version 174 (17 Jun 2020)
Sequence version 3 (18 Mar 2008)
Previous versions | rss
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Protein

Zinc finger and BTB domain-containing protein 20

Gene

ZBTB20

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

May be a transcription factor that may be involved in hematopoiesis, oncogenesis, and immune responses (PubMed:11352661). Plays a role in postnatal myogenesis, may be involved in the regulation of satellite cells self-renewal (By similarity).By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri578 – 600C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri606 – 628C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri634 – 656C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri662 – 684C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri715 – 737C2H2-type 5PROSITE-ProRule annotationAdd BLAST23

<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

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

<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:
Zinc finger and BTB domain-containing protein 20
Alternative name(s):
Dendritic-derived BTB/POZ zinc finger protein
Zinc finger protein 288
<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:ZBTB20
Synonyms:DPZF, ZNF288
<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 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000181722.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:13503 ZBTB20

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606025 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9HC78

<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

Primrose syndrome (PRIMS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by macrocephaly, intellectual disability, disturbed behavior, dysmorphic facial features, ectopic calcifications, large calcified ear auricles, and progressive muscle wasting.
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_072583590K → Q in PRIMS; does not affect subcellular location; strongly reduced DNA binding; reduced ability to repress transcription; dominant-negative effect of the mutant on the wild-type allele. 1 PublicationCorresponds to variant dbSNP:rs483353064EnsemblClinVar.1
Natural variantiVAR_072584596H → R in PRIMS; strongly reduced DNA binding; strongly reduced ability to repress transcription; dominant-negative effect of the mutant on the wild-type allele. 1 PublicationCorresponds to variant dbSNP:rs483353066EnsemblClinVar.1
Natural variantiVAR_072585602G → A in PRIMS; strongly reduced DNA binding; strongly reduced ability to repress transcription; dominant-negative effect of the mutant on the wild-type allele. 1 PublicationCorresponds to variant dbSNP:rs483353068EnsemblClinVar.1
Natural variantiVAR_072586621L → F in PRIMS; strongly reduced DNA binding; reduced ability to repress transcription; dominant-negative effect of the mutant on the wild-type allele. 1 PublicationCorresponds to variant dbSNP:rs483353070EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		26137

MalaCards human disease database

More...MalaCardsi		ZBTB20
MIMi259050 phenotype

Open Targets

More...OpenTargetsi		ENSG00000181722

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA37789

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9HC78 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ZBTB20

Domain mapping of disease mutations (DMDM)

More...DMDMi		172045933

<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_00000477331 – 741Zinc finger and BTB domain-containing protein 20Add BLAST741

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei211PhosphothreonineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki330Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki330Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei353PhosphoserineCombined sources1
Modified residuei357PhosphothreonineBy similarity1
Cross-linki371Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei690PhosphothreonineBy similarity1
Modified residuei695PhosphothreonineBy similarity1
Cross-linki723Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Sumoylated with SUMO1.By similarity

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9HC78

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9HC78

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9HC78

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

More...PaxDbi		Q9HC78

PeptideAtlas

More...PeptideAtlasi		Q9HC78

PRoteomics IDEntifications database

More...PRIDEi		Q9HC78

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		81647 [Q9HC78-1]
81648 [Q9HC78-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9HC78

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

More...PhosphoSitePlusi		Q9HC78

<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

Expressed in spleen, lymph node, thymus, peripheral blood leukocytes, and fetal liver.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000181722 Expressed in pituitary gland and 240 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9HC78 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9HC78 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000181722 Tissue enhanced (testis)

<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

Can homodimerize. Binds to DNA.

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		117573, 19 interactors

Protein interaction database and analysis system

More...IntActi		Q9HC78, 12 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000419153

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9HC78 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

3D structure databases

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

More...SMRi		Q9HC78

Database of comparative protein structure models

More...ModBasei		Search...

<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>Domaini104 – 167BTBPROSITE-ProRule annotationAdd BLAST64

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri578 – 600C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri606 – 628C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri634 – 656C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri662 – 684C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri715 – 737C2H2-type 5PROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1721 Eukaryota
COG5048 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158617

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_019055_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9HC78

KEGG Orthology (KO)

More...KOi		K10501

Identification of Orthologs from Complete Genome Data

More...OMAi		EQQFMAG

Database of Orthologous Groups

More...OrthoDBi		1318335at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9HC78

TreeFam database of animal gene trees

More...TreeFami		TF335684

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000210 BTB/POZ_dom
IPR011333 SKP1/BTB/POZ_sf
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00651 BTB, 1 hit
PF00096 zf-C2H2, 5 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00225 BTB, 1 hit
SM00355 ZnF_C2H2, 5 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF54695 SSF54695, 1 hit
SSF57667 SSF57667, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50097 BTB, 1 hit
PS00028 ZINC_FINGER_C2H2_1, 5 hits
PS50157 ZINC_FINGER_C2H2_2, 5 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%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>Sequences (2+)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 describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9HC78-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLERKKPKTA ENQKASEENE ITQPGGSSAK PGLPCLNFEA VLSPDPALIH 
        60         70         80         90        100
STHSLTNSHA HTGSSDCDIS CKGMTERIHS INLHNFSNSV LETLNEQRNR 
       110        120        130        140        150
GHFCDVTVRI HGSMLRAHRC VLAAGSPFFQ DKLLLGYSDI EIPSVVSVQS 
       160        170        180        190        200
VQKLIDFMYS GVLRVSQSEA LQILTAASIL QIKTVIDECT RIVSQNVGDV 
       210        220        230        240        250
FPGIQDSGQD TPRGTPESGT SGQSSDTESG YLQSHPQHSV DRIYSALYAC 
       260        270        280        290        300
SMQNGSGERS FYSGAVVSHH ETALGLPRDH HMEDPSWITR IHERSQQMER 
       310        320        330        340        350
YLSTTPETTH CRKQPRPVRI QTLVGNIHIK QEMEDDYDYY GQQRVQILER 
       360        370        380        390        400
NESEECTEDT DQAEGTESEP KGESFDSGVS SSIGTEPDSV EQQFGPGAAR 
       410        420        430        440        450
DSQAEPTQPE QAAEAPAEGG PQTNQLETGA SSPERSNEVE MDSTVITVSN 
       460        470        480        490        500
SSDKSVLQQP SVNTSIGQPL PSTQLYLRQT ETLTSNLRMP LTLTSNTQVI 
       510        520        530        540        550
GTAGNTYLPA LFTTQPAGSG PKPFLFSLPQ PLAGQQTQFV TVSQPGLSTF 
       560        570        580        590        600
TAQLPAPQPL ASSAGHSTAS GQGEKKPYEC TLCNKTFTAK QNYVKHMFVH 
       610        620        630        640        650
TGEKPHQCSI CWRSFSLKDY LIKHMVTHTG VRAYQCSICN KRFTQKSSLN 
       660        670        680        690        700
VHMRLHRGEK SYECYICKKK FSHKTLLERH VALHSASNGT PPAGTPPGAR 
       710        720        730        740 
AGPPGVVACT EGTTYVCSVC PAKFDQIEQF NDHMRMHVSD G
Length:741
Mass (Da):81,083
Last modified:March 18, 2008 - 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:i913DDA9E6771C1EF
GO
Isoform 2 (identifier: Q9HC78-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-73: Missing.

Show »
Length:668
Mass (Da):73,401
Checksum:iF280249454E57C62
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JCX0C9JCX0_HUMAN
Zinc finger and BTB domain-containi...
ZBTB20
57Annotation 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>
C9JUH0C9JUH0_HUMAN
Zinc finger and BTB domain-containi...
ZBTB20
19Annotation 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 conflicti224S → G in AAG28340 (PubMed:11352661).Curated1
Sequence conflicti266V → M in AAG28340 (PubMed:11352661).Curated1
Sequence conflicti332E → G in CAH56190 (PubMed:17974005).Curated1
Sequence conflicti337Y → F in AAG28340 (PubMed:11352661).Curated1
Sequence conflicti465S → F in AAG28340 (PubMed:11352661).Curated1
Sequence conflicti517A → V in AAG28340 (PubMed:11352661).Curated1
Sequence conflicti543S → F in AAH29041 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072583590K → Q in PRIMS; does not affect subcellular location; strongly reduced DNA binding; reduced ability to repress transcription; dominant-negative effect of the mutant on the wild-type allele. 1 PublicationCorresponds to variant dbSNP:rs483353064EnsemblClinVar.1
Natural variantiVAR_072584596H → R in PRIMS; strongly reduced DNA binding; strongly reduced ability to repress transcription; dominant-negative effect of the mutant on the wild-type allele. 1 PublicationCorresponds to variant dbSNP:rs483353066EnsemblClinVar.1
Natural variantiVAR_072585602G → A in PRIMS; strongly reduced DNA binding; strongly reduced ability to repress transcription; dominant-negative effect of the mutant on the wild-type allele. 1 PublicationCorresponds to variant dbSNP:rs483353068EnsemblClinVar.1
Natural variantiVAR_072586621L → F in PRIMS; strongly reduced DNA binding; reduced ability to repress transcription; dominant-negative effect of the mutant on the wild-type allele. 1 PublicationCorresponds to variant dbSNP:rs483353070EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0325031 – 73Missing in isoform 2. 3 PublicationsAdd BLAST73

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
AF139460 mRNA Translation: AAG28340.2
AL050276 mRNA Translation: CAB43377.1
BX647778 mRNA Translation: CAH56190.1
CH471052 Genomic DNA Translation: EAW79598.1
BC029041 mRNA Translation: AAH29041.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2981.1 [Q9HC78-2]
CCDS54626.1 [Q9HC78-1]

Protein sequence database of the Protein Information Resource

More...PIRi		T08725

NCBI Reference Sequences

More...RefSeqi		NP_001157814.1, NM_001164342.2 [Q9HC78-1]
NP_001157815.1, NM_001164343.2 [Q9HC78-2]
NP_001157816.1, NM_001164344.2 [Q9HC78-2]
NP_001157817.1, NM_001164345.2 [Q9HC78-2]
NP_001157818.1, NM_001164346.2 [Q9HC78-2]
NP_001157819.1, NM_001164347.2 [Q9HC78-2]
NP_001335729.1, NM_001348800.1 [Q9HC78-1]
NP_001335731.1, NM_001348802.1 [Q9HC78-2]
NP_001335732.1, NM_001348803.1 [Q9HC78-1]
NP_001335733.1, NM_001348804.1 [Q9HC78-2]
NP_001335734.1, NM_001348805.1 [Q9HC78-2]
NP_056457.3, NM_015642.5 [Q9HC78-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000357258; ENSP00000349803; ENSG00000181722 [Q9HC78-2]
ENST00000393785; ENSP00000377375; ENSG00000181722 [Q9HC78-2]
ENST00000462705; ENSP00000420324; ENSG00000181722 [Q9HC78-2]
ENST00000464560; ENSP00000417307; ENSG00000181722 [Q9HC78-2]
ENST00000471418; ENSP00000419902; ENSG00000181722 [Q9HC78-2]
ENST00000474710; ENSP00000419153; ENSG00000181722 [Q9HC78-1]
ENST00000481632; ENSP00000418092; ENSG00000181722 [Q9HC78-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		26137

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:26137

UCSC genome browser

More...UCSCi		uc003ebi.5 human [Q9HC78-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AF139460 mRNA Translation: AAG28340.2
AL050276 mRNA Translation: CAB43377.1
BX647778 mRNA Translation: CAH56190.1
CH471052 Genomic DNA Translation: EAW79598.1
BC029041 mRNA Translation: AAH29041.1
CCDSiCCDS2981.1 [Q9HC78-2]
CCDS54626.1 [Q9HC78-1]
PIRiT08725
RefSeqiNP_001157814.1, NM_001164342.2 [Q9HC78-1]
NP_001157815.1, NM_001164343.2 [Q9HC78-2]
NP_001157816.1, NM_001164344.2 [Q9HC78-2]
NP_001157817.1, NM_001164345.2 [Q9HC78-2]
NP_001157818.1, NM_001164346.2 [Q9HC78-2]
NP_001157819.1, NM_001164347.2 [Q9HC78-2]
NP_001335729.1, NM_001348800.1 [Q9HC78-1]
NP_001335731.1, NM_001348802.1 [Q9HC78-2]
NP_001335732.1, NM_001348803.1 [Q9HC78-1]
NP_001335733.1, NM_001348804.1 [Q9HC78-2]
NP_001335734.1, NM_001348805.1 [Q9HC78-2]
NP_056457.3, NM_015642.5 [Q9HC78-2]

3D structure databases

SMRiQ9HC78
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi117573, 19 interactors
IntActiQ9HC78, 12 interactors
STRINGi9606.ENSP00000419153

PTM databases

iPTMnetiQ9HC78
PhosphoSitePlusiQ9HC78

Polymorphism and mutation databases

BioMutaiZBTB20
DMDMi172045933

Proteomic databases

jPOSTiQ9HC78
MassIVEiQ9HC78
MaxQBiQ9HC78
PaxDbiQ9HC78
PeptideAtlasiQ9HC78
PRIDEiQ9HC78
ProteomicsDBi81647 [Q9HC78-1]
81648 [Q9HC78-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		16495 130 antibodies

The DNASU plasmid repository

More...DNASUi		26137

Genome annotation databases

EnsembliENST00000357258; ENSP00000349803; ENSG00000181722 [Q9HC78-2]
ENST00000393785; ENSP00000377375; ENSG00000181722 [Q9HC78-2]
ENST00000462705; ENSP00000420324; ENSG00000181722 [Q9HC78-2]
ENST00000464560; ENSP00000417307; ENSG00000181722 [Q9HC78-2]
ENST00000471418; ENSP00000419902; ENSG00000181722 [Q9HC78-2]
ENST00000474710; ENSP00000419153; ENSG00000181722 [Q9HC78-1]
ENST00000481632; ENSP00000418092; ENSG00000181722 [Q9HC78-2]
GeneIDi26137
KEGGihsa:26137
UCSCiuc003ebi.5 human [Q9HC78-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		26137
DisGeNETi26137
EuPathDBiHostDB:ENSG00000181722.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		ZBTB20
HGNCiHGNC:13503 ZBTB20
HPAiENSG00000181722 Tissue enhanced (testis)
MalaCardsiZBTB20
MIMi259050 phenotype
606025 gene
neXtProtiNX_Q9HC78
OpenTargetsiENSG00000181722
Orphaneti3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
PharmGKBiPA37789

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00940000158617
HOGENOMiCLU_019055_0_0_1
InParanoidiQ9HC78
KOiK10501
OMAiEQQFMAG
OrthoDBi1318335at2759
PhylomeDBiQ9HC78
TreeFamiTF335684

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		26137 3 hits in 810 CRISPR screens

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

More...ChiTaRSi		ZBTB20 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ZBTB20

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

More...GenomeRNAii		26137
PharosiQ9HC78 Tbio

Protein Ontology

More...PROi		PR:Q9HC78
RNActiQ9HC78 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000181722 Expressed in pituitary gland and 240 other tissues
ExpressionAtlasiQ9HC78 baseline and differential
GenevisibleiQ9HC78 HS

Family and domain databases

InterProiView protein in InterPro
IPR000210 BTB/POZ_dom
IPR011333 SKP1/BTB/POZ_sf
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF00651 BTB, 1 hit
PF00096 zf-C2H2, 5 hits
SMARTiView protein in SMART
SM00225 BTB, 1 hit
SM00355 ZnF_C2H2, 5 hits
SUPFAMiSSF54695 SSF54695, 1 hit
SSF57667 SSF57667, 2 hits
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit
PS00028 ZINC_FINGER_C2H2_1, 5 hits
PS50157 ZINC_FINGER_C2H2_2, 5 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 nameiZBT20_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: Q9HC78
Secondary accession number(s): Q63HP6, Q8N6R5, Q9Y410
<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: September 26, 2001
Last sequence update: March 18, 2008
Last modified: June 17, 2020
This is version 174 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
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