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UniProtKB - Q8N5Z5 (KCD17_HUMAN)

Entry version 141 (07 Apr 2021)
Sequence version 3 (02 Sep 2008)
Previous versions | rss
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Protein

BTB/POZ domain-containing protein KCTD17

Gene

KCTD17

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

Is a positive regulator of ciliogenesis, playing a crucial role in the initial steps of axoneme extension. It acts as a substrate-adapter for CUL3-RING ubiquitin ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of TCHP, a protein involved in ciliogenesis down-regulation (PubMed:25270598). May be involved in endoplasmic reticulum calcium ion homeostasis (PubMed:25983243).2 Publications

<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 processCilium biogenesis/degradation, Ubl conjugation pathway

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8N5Z5

<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:
BTB/POZ domain-containing protein KCTD17
<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:KCTD17
<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 22

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:25705, KCTD17

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		616386, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8N5Z5

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000100379.17

<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

Keywords - Cellular componenti

Cytoplasm

<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

Dystonia 26, myoclonic (DYT26)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT26 is an autosomal dominant, progressive disorder characterized by a combination of non-epileptic myoclonic jerks and dystonia. Affected individuals manifest myoclonic jerks in the upper limbs during the first or second decade of life, and later develop dystonia with predominant involvement of the craniocervical regions and sometimes the trunk and/or lower limbs.
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_073806145R → H in DYT26; does not affect cytoplasmic subcellular location. 1 PublicationCorresponds to variant dbSNP:rs786205860EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Dystonia

Organism-specific databases

DisGeNET

More...DisGeNETi		79734

MalaCards human disease database

More...MalaCardsi		KCTD17
MIMi616398, phenotype

Open Targets

More...OpenTargetsi		ENSG00000100379

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

More...Orphaneti		36899, Myoclonus-dystonia syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142671638

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8N5Z5, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		KCTD17

Domain mapping of disease mutations (DMDM)

More...DMDMi		205371782

<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_00002478411 – 321BTB/POZ domain-containing protein KCTD17Add BLAST321

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8N5Z5

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8N5Z5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8N5Z5

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8N5Z5

PeptideAtlas

More...PeptideAtlasi		Q8N5Z5

PRoteomics IDEntifications database

More...PRIDEi		Q8N5Z5

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		72116 [Q8N5Z5-1]
72117 [Q8N5Z5-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8N5Z5

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

More...PhosphoSitePlusi		Q8N5Z5

<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

Highly expressed in brain. Highest expression is observed in the putamen and the thalamus.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000100379, Expressed in caudate nucleus and 215 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8N5Z5, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8N5Z5, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000100379, Tissue enhanced (brain)

<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

Homopentamer; forms an closed pentamer (PubMed:28963344).

Interacts with CUL3; interaction is direct and forms a 5:5 heterodecamer (PubMed:28963344).

Interacts with TCHP (PubMed:25270598).

Interacts with CUL3, as part of the BCR(KCTD17) E3 ubiquitin ligase complex, at least composed of CUL3, KCTD17 and RBX1 (PubMed:25270598).

2 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
Q8N5Z5
With#Exp.IntAct
ALB - isoform 3 [P02768-3]3EBI-743960,EBI-25830928
APBB2 - isoform 2 [Q92870-2]3EBI-743960,EBI-21535880
CASP6 [P55212]3EBI-743960,EBI-718729
CHAT - isoform R [P28329-3]3EBI-743960,EBI-25837549
CLSTN1 - isoform 2 [O94985-2]3EBI-743960,EBI-16041593
CYCS [P99999]3EBI-743960,EBI-446479
DMC1 [Q14565]4EBI-743960,EBI-930865
DMWD [G5E9A7]3EBI-743960,EBI-10976677
FARS2 [O95363]3EBI-743960,EBI-2513774
FGFR3 [P22607]3EBI-743960,EBI-348399
FKBP1A [Q0VDC6]3EBI-743960,EBI-10226858
FLNA - isoform 2 [P21333-2]3EBI-743960,EBI-9641086
GSN [P06396]3EBI-743960,EBI-351506
HIP1 [O00291]3EBI-743960,EBI-473886
HSPA2 [P54652]3EBI-743960,EBI-356991
HTRA2 [O43464]3EBI-743960,EBI-517086
HTT [P42858]3EBI-743960,EBI-466029
KAT5 [Q92993]3EBI-743960,EBI-399080
itself2EBI-743960,EBI-743960
LAMP2 - isoform LAMP-2B [P13473-2]3EBI-743960,EBI-21591415
LAT - isoform 2 [O43561-2]3EBI-743960,EBI-8070286
LMO3 - isoform 4 [Q8TAP4-4]3EBI-743960,EBI-11742507
LRIF1 [Q5T3J3]3EBI-743960,EBI-473196
NCK2 [O43639]3EBI-743960,EBI-713635
OR51E1 [Q8TCB6]3EBI-743960,EBI-12141505
PKN1 [Q16512]3EBI-743960,EBI-602382
PMP22 [D3DTS7]3EBI-743960,EBI-25882629
PPIA - isoform 2 [P62937-2]3EBI-743960,EBI-25884072
PPIB [P23284]3EBI-743960,EBI-359252
PRPF40A - isoform 2 [O75400-2]3EBI-743960,EBI-5280197
PRPH [P41219]3EBI-743960,EBI-752074
RAC1 [P63000]3EBI-743960,EBI-413628
RAN [P62826]3EBI-743960,EBI-286642
SETDB1 - isoform 2 [Q15047-2]3EBI-743960,EBI-9090795
SH3GLB1 [Q9Y371]3EBI-743960,EBI-2623095
SPRED1 [Q7Z699]3EBI-743960,EBI-5235340
STK16 [O75716]9EBI-743960,EBI-749295
SUV39H2 [Q9H5I1]2EBI-743960,EBI-723127
TARDBP [Q13148]6EBI-743960,EBI-372899
TINF2 [Q9BSI4]2EBI-743960,EBI-717399
UBQLN1 [Q9UMX0]3EBI-743960,EBI-741480
UQCRC1 [P31930]3EBI-743960,EBI-1052596
YWHAG [P61981]3EBI-743960,EBI-359832
Q96BH63EBI-743960,EBI-25872486
Isoform 2 [Q8N5Z5-2]
With#Exp.IntAct
STK16 [O75716]3EBI-10189368,EBI-749295

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		122848, 89 interactors

Protein interaction database and analysis system

More...IntActi		Q8N5Z5, 92 interactors

Molecular INTeraction database

More...MINTi		Q8N5Z5

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000385096

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8N5Z5, 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

1321
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		Q8N5Z5

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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>Domaini31 – 101BTBAdd BLAST71

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili203 – 246Sequence analysisAdd BLAST44

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 biasi258 – 311Pro-richAdd BLAST54

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2715, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161746

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_070830_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8N5Z5

Identification of Orthologs from Complete Genome Data

More...OMAi		HACCYKP

Database of Orthologous Groups

More...OrthoDBi		1333587at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8N5Z5

TreeFam database of animal gene trees

More...TreeFami		TF313754

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
IPR003131, T1-type_BTB

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02214, BTB_2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF54695, SSF54695, 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>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 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8N5Z5-1) [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
MQTPRPAMRM EAGEAAPPAG AGGRAAGGWG KWVRLNVGGT VFLTTRQTLC 
        60         70         80         90        100
REQKSFLSRL CQGEELQSDR DETGAYLIDR DPTYFGPILN FLRHGKLVLD 
       110        120        130        140        150
KDMAEEGVLE EAEFYNIGPL IRIIKDRMEE KDYTVTQVPP KHVYRVLQCQ 
       160        170        180        190        200
EEELTQMVST MSDGWRFEQL VNIGSSYNYG SEDQAEFLCV VSKELHSTPN 
       210        220        230        240        250
GLSSESSRKT KSTEEQLEEQ QQQEEEVEEV EVEQVQVEAD AQEKAQSSQD 
       260        270        280        290        300
PANLFSLPPL PPPPLPAGGS RPHPLRPEAE LAVRASPRPL ARPQSCHPCC 
       310        320 
YKPEAPGCEA PDHLQGLGVP I
Length:321
Mass (Da):35,670
Last modified:September 2, 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:iDB80D4B4BD8CB7E7
GO
Isoform 2 (identifier: Q8N5Z5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     245-268: Missing.

Show »
Length:297
Mass (Da):33,276
Checksum:iF69D7CFFE51B0FC9
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WX35A0A087WX35_HUMAN
BTB/POZ domain-containing protein K...
KCTD17
220Annotation 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>
B0QYB2B0QYB2_HUMAN
BTB/POZ domain-containing protein K...
KCTD17
63Annotation 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>
H0Y731H0Y731_HUMAN
BTB/POZ domain-containing protein K...
KCTD17
180Annotation 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>
H7C323H7C323_HUMAN
BTB/POZ domain-containing protein K...
KCTD17
104Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH25403 differs from that shown. The sequence differs in the N-terminus for unknown reasons.Curated
The sequence AAH31038 differs from that shown. Reason: Erroneous initiation.Curated

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 conflicti6P → R in AAH31038 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02715751R → G1 PublicationCorresponds to variant dbSNP:rs17852877Ensembl.1
Natural variantiVAR_073806145R → H in DYT26; does not affect cytoplasmic subcellular location. 1 PublicationCorresponds to variant dbSNP:rs786205860EnsemblClinVar.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_020072245 – 268Missing in isoform 2. 2 PublicationsAdd BLAST24

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
AL022314 Genomic DNA No translation available.
CH471095 Genomic DNA Translation: EAW60139.1
BC025403 mRNA Translation: AAH25403.1 Sequence problems.
BC031038 mRNA Translation: AAH31038.1 Different initiation.
AK022304 mRNA Translation: BAB14007.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS13940.2 [Q8N5Z5-2]
CCDS74854.1 [Q8N5Z5-1]

NCBI Reference Sequences

More...RefSeqi		NP_001269613.1, NM_001282684.1 [Q8N5Z5-1]
NP_001269614.1, NM_001282685.1
NP_001269615.1, NM_001282686.1
NP_078957.2, NM_024681.3 [Q8N5Z5-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000402077; ENSP00000384391; ENSG00000100379 [Q8N5Z5-2]
ENST00000403888; ENSP00000385096; ENSG00000100379 [Q8N5Z5-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		79734

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:79734

UCSC genome browser

More...UCSCi		uc010gxb.5, human [Q8N5Z5-1]

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
AL022314 Genomic DNA No translation available.
CH471095 Genomic DNA Translation: EAW60139.1
BC025403 mRNA Translation: AAH25403.1 Sequence problems.
BC031038 mRNA Translation: AAH31038.1 Different initiation.
AK022304 mRNA Translation: BAB14007.1
CCDSiCCDS13940.2 [Q8N5Z5-2]
CCDS74854.1 [Q8N5Z5-1]
RefSeqiNP_001269613.1, NM_001282684.1 [Q8N5Z5-1]
NP_001269614.1, NM_001282685.1
NP_001269615.1, NM_001282686.1
NP_078957.2, NM_024681.3 [Q8N5Z5-2]

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
5A6RX-ray2.85A/B/C/D/E20-131[»]
SMRiQ8N5Z5
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi122848, 89 interactors
IntActiQ8N5Z5, 92 interactors
MINTiQ8N5Z5
STRINGi9606.ENSP00000385096

PTM databases

iPTMnetiQ8N5Z5
PhosphoSitePlusiQ8N5Z5

Genetic variation databases

BioMutaiKCTD17
DMDMi205371782

Proteomic databases

EPDiQ8N5Z5
jPOSTiQ8N5Z5
MassIVEiQ8N5Z5
MaxQBiQ8N5Z5
PeptideAtlasiQ8N5Z5
PRIDEiQ8N5Z5
ProteomicsDBi72116 [Q8N5Z5-1]
72117 [Q8N5Z5-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		11878, 118 antibodies

Genome annotation databases

EnsembliENST00000402077; ENSP00000384391; ENSG00000100379 [Q8N5Z5-2]
ENST00000403888; ENSP00000385096; ENSG00000100379 [Q8N5Z5-1]
GeneIDi79734
KEGGihsa:79734
UCSCiuc010gxb.5, human [Q8N5Z5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		79734
DisGeNETi79734

GeneCards: human genes, protein and diseases

More...GeneCardsi		KCTD17
HGNCiHGNC:25705, KCTD17
HPAiENSG00000100379, Tissue enhanced (brain)
MalaCardsiKCTD17
MIMi616386, gene
616398, phenotype
neXtProtiNX_Q8N5Z5
OpenTargetsiENSG00000100379
Orphaneti36899, Myoclonus-dystonia syndrome
PharmGKBiPA142671638
VEuPathDBiHostDB:ENSG00000100379.17

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2715, Eukaryota
GeneTreeiENSGT00940000161746
HOGENOMiCLU_070830_2_0_1
InParanoidiQ8N5Z5
OMAiHACCYKP
OrthoDBi1333587at2759
PhylomeDBiQ8N5Z5
TreeFamiTF313754

Enzyme and pathway databases

PathwayCommonsiQ8N5Z5

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		79734, 6 hits in 984 CRISPR screens

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

More...GenomeRNAii		79734
PharosiQ8N5Z5, Tbio

Protein Ontology

More...PROi		PR:Q8N5Z5
RNActiQ8N5Z5, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000100379, Expressed in caudate nucleus and 215 other tissues
ExpressionAtlasiQ8N5Z5, baseline and differential
GenevisibleiQ8N5Z5, HS

Family and domain databases

InterProiView protein in InterPro
IPR000210, BTB/POZ_dom
IPR011333, SKP1/BTB/POZ_sf
IPR003131, T1-type_BTB
PfamiView protein in Pfam
PF02214, BTB_2, 1 hit
SMARTiView protein in SMART
SM00225, BTB, 1 hit
SUPFAMiSSF54695, SSF54695, 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 nameiKCD17_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: Q8N5Z5
Secondary accession number(s): B0QYA9, B0QYB0, O95517
<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: July 25, 2006
Last sequence update: September 2, 2008
Last modified: April 7, 2021
This is version 141 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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