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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-Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

  • transcription corepressor activity Source: UniProtKB
  • transcription factor binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Enzyme and pathway databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
BTB/POZ domain-containing protein KCTD1
Alternative name(s):
Potassium channel tetramerization domain-containing protein 1
Gene namesi
Name:KCTD1
Synonyms:C18orf5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:18249. KCTD1.

Subcellular locationi

GO - Cellular componenti

  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

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.
See also OMIM:181270
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06997130A → E in SENS. 1 PublicationCorresponds to variant rs587776998dbSNPEnsembl.1
Natural variantiVAR_06997231P → L in SENS. 1 PublicationCorresponds to variant rs587776999dbSNPEnsembl.1
Natural variantiVAR_06997331P → R in SENS. 1 PublicationCorresponds to variant rs587776999dbSNPEnsembl.1
Natural variantiVAR_06997431P → S in SENS. 1 Publication1
Natural variantiVAR_06997533H → P in SENS. 1 PublicationCorresponds to variant rs587777001dbSNPEnsembl.1
Natural variantiVAR_06997633H → Q in SENS. 1 PublicationCorresponds to variant rs587777000dbSNPEnsembl.1
Natural variantiVAR_06997762G → D in SENS. 1 PublicationCorresponds to variant rs587777003dbSNPEnsembl.1
Natural variantiVAR_06997874H → P in SENS. 1 PublicationCorresponds to variant rs587777002dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi284252.
MalaCardsiKCTD1.
MIMi181270. phenotype.
OpenTargetsiENSG00000134504.
Orphaneti2036. Scalp-ear-nipple syndrome.
PharmGKBiPA30082.

Polymorphism and mutation databases

BioMutaiKCTD1.
DMDMi74738338.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002471441 – 257BTB/POZ domain-containing protein KCTD1Add BLAST257

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei9PhosphoserineCombined sources1
Modified residuei12PhosphoserineCombined sources1

Post-translational modificationi

Sumoylated.1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ719H9.
MaxQBiQ719H9.
PaxDbiQ719H9.
PeptideAtlasiQ719H9.
PRIDEiQ719H9.

PTM databases

iPTMnetiQ719H9.
PhosphoSitePlusiQ719H9.

Expressioni

Tissue specificityi

Expressed in mammary gland, kidney, brain and ovary.1 Publication

Gene expression databases

BgeeiENSG00000134504.
CleanExiHS_KCTD1.
ExpressionAtlasiQ719H9. baseline and differential.
GenevisibleiQ719H9. HS.

Organism-specific databases

HPAiCAB010751.

Interactioni

Subunit structurei

Can form homodimers. Interacts with TFAP2A, TFAP2B and TFAP2C via the BTB domain.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
itself3EBI-9027502,EBI-9027502
EPM2AIP1Q7L7753EBI-9027502,EBI-6255981
EXOSC1Q9Y3B25EBI-9027502,EBI-371892
KCTD15Q96SI13EBI-9027502,EBI-715783
LMO3Q8TAP43EBI-9027502,EBI-742259
LNX1Q8TBB15EBI-9027502,EBI-739832
POLR1CO151605EBI-9027502,EBI-1055079
PRKAA2P546463EBI-9027502,EBI-1383852
PSMA1P257863EBI-9027502,EBI-359352
SDCBPO005605EBI-9027502,EBI-727004
TRAPPC2P0DI813EBI-9027502,EBI-5663373
UBE2IQ7KZS03EBI-9027502,EBI-10180829
WDYHV1Q96HA83EBI-9027502,EBI-741158
ZBTB25P242783EBI-9027502,EBI-739899

GO - Molecular functioni

  • transcription factor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi129804. 21 interactors.
IntActiQ719H9. 20 interactors.
STRINGi9606.ENSP00000408405.

Structurei

Secondary structure

1257
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi33 – 35Combined sources3
Beta strandi37 – 39Combined sources3
Beta strandi41 – 43Combined sources3
Helixi45 – 48Combined sources4
Helixi55 – 60Combined sources6
Beta strandi61 – 64Combined sources4
Beta strandi67 – 69Combined sources3
Turni70 – 73Combined sources4
Beta strandi74 – 76Combined sources3
Helixi81 – 93Combined sources13
Helixi105 – 114Combined sources10
Helixi118 – 124Combined sources7
Turni129 – 131Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
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[»]
ProteinModelPortaliQ719H9.
SMRiQ719H9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini30 – 100BTBAdd BLAST71

Sequence similaritiesi

Contains 1 BTB (POZ) domain.Curated

Phylogenomic databases

eggNOGiKOG2723. Eukaryota.
ENOG410Z155. LUCA.
GeneTreeiENSGT00760000119013.
HOGENOMiHOG000232179.
HOVERGENiHBG055358.
InParanoidiQ719H9.
PhylomeDBiQ719H9.

Family and domain databases

InterProiIPR000210. BTB/POZ_dom.
IPR011333. SKP1/BTB/POZ.
IPR003131. T1-type_BTB.
[Graphical view]
PfamiPF02214. BTB_2. 1 hit.
[Graphical view]
SMARTiSM00225. BTB. 1 hit.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.

Sequencei

Sequence statusi: Complete.

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
Checksum:i0513F3483A3C13A6
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 rs587776998dbSNPEnsembl.1
Natural variantiVAR_06997231P → L in SENS. 1 PublicationCorresponds to variant rs587776999dbSNPEnsembl.1
Natural variantiVAR_06997331P → R in SENS. 1 PublicationCorresponds to variant rs587776999dbSNPEnsembl.1
Natural variantiVAR_06997431P → S in SENS. 1 Publication1
Natural variantiVAR_06997533H → P in SENS. 1 PublicationCorresponds to variant rs587777001dbSNPEnsembl.1
Natural variantiVAR_06997633H → Q in SENS. 1 PublicationCorresponds to variant rs587777000dbSNPEnsembl.1
Natural variantiVAR_06997762G → D in SENS. 1 PublicationCorresponds to variant rs587777003dbSNPEnsembl.1
Natural variantiVAR_06997874H → P in SENS. 1 PublicationCorresponds to variant rs587777002dbSNPEnsembl.1
Natural variantiVAR_049722107L → W.Corresponds to variant rs491684dbSNPEnsembl.1

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_001245151.1. NM_001258222.1.
NP_945342.1. NM_198991.3.
XP_016881197.1. XM_017025708.1.
UniGeneiHs.526630.

Genome annotation databases

EnsembliENST00000317932; ENSP00000314831; ENSG00000134504.
ENST00000408011; ENSP00000384367; ENSG00000134504.
ENST00000417602; ENSP00000408405; ENSG00000134504.
ENST00000579973; ENSP00000464170; ENSG00000134504.
ENST00000580059; ENSP00000463041; ENSG00000134504.
GeneIDi284252.
KEGGihsa:284252.
UCSCiuc002kvw.6. human.

Keywords - Coding sequence diversityi

Polymorphism

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_001245151.1. NM_001258222.1.
NP_945342.1. NM_198991.3.
XP_016881197.1. XM_017025708.1.
UniGeneiHs.526630.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
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[»]
ProteinModelPortaliQ719H9.
SMRiQ719H9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129804. 21 interactors.
IntActiQ719H9. 20 interactors.
STRINGi9606.ENSP00000408405.

PTM databases

iPTMnetiQ719H9.
PhosphoSitePlusiQ719H9.

Polymorphism and mutation databases

BioMutaiKCTD1.
DMDMi74738338.

Proteomic databases

EPDiQ719H9.
MaxQBiQ719H9.
PaxDbiQ719H9.
PeptideAtlasiQ719H9.
PRIDEiQ719H9.

Protocols and materials databases

DNASUi284252.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000317932; ENSP00000314831; ENSG00000134504.
ENST00000408011; ENSP00000384367; ENSG00000134504.
ENST00000417602; ENSP00000408405; ENSG00000134504.
ENST00000579973; ENSP00000464170; ENSG00000134504.
ENST00000580059; ENSP00000463041; ENSG00000134504.
GeneIDi284252.
KEGGihsa:284252.
UCSCiuc002kvw.6. human.

Organism-specific databases

CTDi284252.
DisGeNETi284252.
GeneCardsiKCTD1.
HGNCiHGNC:18249. KCTD1.
HPAiCAB010751.
MalaCardsiKCTD1.
MIMi181270. phenotype.
613420. gene.
neXtProtiNX_Q719H9.
OpenTargetsiENSG00000134504.
Orphaneti2036. Scalp-ear-nipple syndrome.
PharmGKBiPA30082.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2723. Eukaryota.
ENOG410Z155. LUCA.
GeneTreeiENSGT00760000119013.
HOGENOMiHOG000232179.
HOVERGENiHBG055358.
InParanoidiQ719H9.
PhylomeDBiQ719H9.

Enzyme and pathway databases

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

Miscellaneous databases

GenomeRNAii284252.
PROiQ719H9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000134504.
CleanExiHS_KCTD1.
ExpressionAtlasiQ719H9. baseline and differential.
GenevisibleiQ719H9. HS.

Family and domain databases

InterProiIPR000210. BTB/POZ_dom.
IPR011333. SKP1/BTB/POZ.
IPR003131. T1-type_BTB.
[Graphical view]
PfamiPF02214. BTB_2. 1 hit.
[Graphical view]
SMARTiSM00225. BTB. 1 hit.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiKCTD1_HUMAN
AccessioniPrimary (citable) accession number: Q719H9
Secondary accession number(s): A8K1F5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: July 5, 2004
Last modified: November 30, 2016
This is version 109 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.