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Entry version 127 (18 Sep 2019)
Sequence version 1 (05 Jul 2004)
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Protein

BTB/POZ domain-containing protein KCTD1

Gene

KCTD1

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 repress the transcriptional activity of AP-2 family members, including TFAP2A, TFAP2B and TFAP2C to various extent.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

GO - Biological processi

<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 functionRepressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-8866904 Negative regulation of activity of TFAP2 (AP-2) family transcription factors

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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
BTB/POZ domain-containing protein KCTD1
Alternative name(s):
Potassium channel tetramerization domain-containing protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KCTD1
Synonyms:C18orf5
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 18

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18249 KCTD1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
613420 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q719H9

<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

Scalp-ear-nipple syndrome (SENS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families.
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_06997130A → E in SENS. 1 PublicationCorresponds to variant dbSNP:rs587776998Ensembl.1
Natural variantiVAR_06997231P → L in SENS. 1 PublicationCorresponds to variant dbSNP:rs587776999Ensembl.1
Natural variantiVAR_06997331P → R in SENS. 1 PublicationCorresponds to variant dbSNP:rs587776999Ensembl.1
Natural variantiVAR_06997431P → S in SENS. 1 Publication1
Natural variantiVAR_06997533H → P in SENS. 1 PublicationCorresponds to variant dbSNP:rs587777001Ensembl.1
Natural variantiVAR_06997633H → Q in SENS. 1 PublicationCorresponds to variant dbSNP:rs587777000Ensembl.1
Natural variantiVAR_06997762G → D in SENS. 1 PublicationCorresponds to variant dbSNP:rs587777003Ensembl.1
Natural variantiVAR_06997874H → P in SENS. 1 PublicationCorresponds to variant dbSNP:rs587777002Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
284252

MalaCards human disease database

More...
MalaCardsi
KCTD1
MIMi181270 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000134504

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

More...
Orphaneti
2036 Scalp-ear-nipple syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30082

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q719H9

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KCTD1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74738338

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

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002471441 – 257BTB/POZ domain-containing protein KCTD1Add BLAST257

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 residuei9PhosphoserineCombined sources1
Modified residuei12PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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.1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q719H9

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q719H9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q719H9

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q719H9

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

More...
PaxDbi
Q719H9

PeptideAtlas

More...
PeptideAtlasi
Q719H9

PRoteomics IDEntifications database

More...
PRIDEi
Q719H9

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
68593

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q719H9

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

More...
PhosphoSitePlusi
Q719H9

<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 mammary gland, kidney, brain and ovary.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000134504 Expressed in 193 organ(s), highest expression level in vagina

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q719H9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q719H9 HS

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Can form homodimers.

Interacts with TFAP2A, TFAP2B and TFAP2C via the BTB domain.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
129804, 22 interactors

Protein interaction database and analysis system

More...
IntActi
Q719H9, 23 interactors

Molecular INTeraction database

More...
MINTi
Q719H9

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000384367

<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

1257
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
Q719H9

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_and_domains_section">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>Domaini30 – 100BTBAdd BLAST71

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2723 Eukaryota
ENOG410Z155 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156453

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000232179

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q719H9

KEGG Orthology (KO)

More...
KOi
K21754

Database of Orthologous Groups

More...
OrthoDBi
626946at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q719H9

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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

Q719H9-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSRPLITRSP ASPLNNQGIP TPAQLTKSNA PVHIDVGGHM YTSSLATLTK
60 70 80 90 100
YPESRIGRLF DGTEPIVLDS LKQHYFIDRD GQMFRYILNF LRTSKLLIPD
110 120 130 140 150
DFKDYTLLYE EAKYFQLQPM LLEMERWKQD RETGRFSRPC ECLVVRVAPD
160 170 180 190 200
LGERITLSGD KSLIEEVFPE IGDVMCNSVN AGWNHDSTHV IRFPLNGYCH
210 220 230 240 250
LNSVQVLERL QQRGFEIVGS CGGGVDSSQF SEYVLRRELR RTPRVPSVIR

IKQEPLD
Length:257
Mass (Da):29,405
Last modified:July 5, 2004 - 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:i0513F3483A3C13A6
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
A0A2U3U043A0A2U3U043_HUMAN
BTB/POZ domain-containing protein K...
KCTD1
865Annotation 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>
J3KSG1J3KSG1_HUMAN
BTB/POZ domain-containing protein K...
KCTD1
208Annotation 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>
J3QRK1J3QRK1_HUMAN
BTB/POZ domain-containing protein K...
KCTD1
260Annotation 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>
J3QLL6J3QLL6_HUMAN
BTB/POZ domain-containing protein K...
KCTD1
100Annotation 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 conflicti141E → K in BAF82559 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06997130A → E in SENS. 1 PublicationCorresponds to variant dbSNP:rs587776998Ensembl.1
Natural variantiVAR_06997231P → L in SENS. 1 PublicationCorresponds to variant dbSNP:rs587776999Ensembl.1
Natural variantiVAR_06997331P → R in SENS. 1 PublicationCorresponds to variant dbSNP:rs587776999Ensembl.1
Natural variantiVAR_06997431P → S in SENS. 1 Publication1
Natural variantiVAR_06997533H → P in SENS. 1 PublicationCorresponds to variant dbSNP:rs587777001Ensembl.1
Natural variantiVAR_06997633H → Q in SENS. 1 PublicationCorresponds to variant dbSNP:rs587777000Ensembl.1
Natural variantiVAR_06997762G → D in SENS. 1 PublicationCorresponds to variant dbSNP:rs587777003Ensembl.1
Natural variantiVAR_06997874H → P in SENS. 1 PublicationCorresponds to variant dbSNP:rs587777002Ensembl.1
Natural variantiVAR_049722107L → W. Corresponds to variant dbSNP:rs491684Ensembl.1

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
AF542549 mRNA Translation: AAQ09532.1
AK289870 mRNA Translation: BAF82559.1
BC063652 mRNA Translation: AAH63652.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11888.1

NCBI Reference Sequences

More...
RefSeqi
NP_001129677.1, NM_001136205.2
NP_001136202.1, NM_001142730.2
NP_001245150.1, NM_001258221.1
NP_945342.1, NM_198991.3
XP_016881197.1, XM_017025708.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000317932; ENSP00000314831; ENSG00000134504
ENST00000408011; ENSP00000384367; ENSG00000134504
ENST00000417602; ENSP00000408405; ENSG00000134504
ENST00000579973; ENSP00000464170; ENSG00000134504

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
284252

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:284252

UCSC genome browser

More...
UCSCi
uc002kvw.6 human

Keywords - Coding sequence diversityi

Polymorphism

<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
AF542549 mRNA Translation: AAQ09532.1
AK289870 mRNA Translation: BAF82559.1
BC063652 mRNA Translation: AAH63652.1
CCDSiCCDS11888.1
RefSeqiNP_001129677.1, NM_001136205.2
NP_001136202.1, NM_001142730.2
NP_001245150.1, NM_001258221.1
NP_945342.1, NM_198991.3
XP_016881197.1, XM_017025708.1

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
5BXBX-ray2.17A/B/C/D/E/F/G/H/I/J29-132[»]
5BXDX-ray1.80A/B/C/D/E29-132[»]
SMRiQ719H9
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi129804, 22 interactors
IntActiQ719H9, 23 interactors
MINTiQ719H9
STRINGi9606.ENSP00000384367

PTM databases

iPTMnetiQ719H9
PhosphoSitePlusiQ719H9

Polymorphism and mutation databases

BioMutaiKCTD1
DMDMi74738338

Proteomic databases

EPDiQ719H9
jPOSTiQ719H9
MassIVEiQ719H9
MaxQBiQ719H9
PaxDbiQ719H9
PeptideAtlasiQ719H9
PRIDEiQ719H9
ProteomicsDBi68593

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
284252

Genome annotation databases

EnsembliENST00000317932; ENSP00000314831; ENSG00000134504
ENST00000408011; ENSP00000384367; ENSG00000134504
ENST00000417602; ENSP00000408405; ENSG00000134504
ENST00000579973; ENSP00000464170; ENSG00000134504
GeneIDi284252
KEGGihsa:284252
UCSCiuc002kvw.6 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
284252
DisGeNETi284252

GeneCards: human genes, protein and diseases

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GeneCardsi
KCTD1
HGNCiHGNC:18249 KCTD1
MalaCardsiKCTD1
MIMi181270 phenotype
613420 gene
neXtProtiNX_Q719H9
OpenTargetsiENSG00000134504
Orphaneti2036 Scalp-ear-nipple syndrome
PharmGKBiPA30082

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG2723 Eukaryota
ENOG410Z155 LUCA
GeneTreeiENSGT00940000156453
HOGENOMiHOG000232179
InParanoidiQ719H9
KOiK21754
OrthoDBi626946at2759
PhylomeDBiQ719H9

Enzyme and pathway databases

ReactomeiR-HSA-8866904 Negative regulation of activity of TFAP2 (AP-2) family transcription factors

Miscellaneous databases

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

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ChiTaRSi
KCTD1 human

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

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GenomeRNAii
284252
PharosiQ719H9

Protein Ontology

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PROi
PR:Q719H9

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000134504 Expressed in 193 organ(s), highest expression level in vagina
ExpressionAtlasiQ719H9 baseline and differential
GenevisibleiQ719H9 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

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiKCTD1_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: Q719H9
Secondary accession number(s): A8K1F5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: July 5, 2004
Last modified: September 18, 2019
This is version 127 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, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  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 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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