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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

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
ProteomesiUP000005640 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti30 – 301A → E in SENS. 1 Publication
VAR_069971
Natural varianti31 – 311P → L in SENS. 1 Publication
VAR_069972
Natural varianti31 – 311P → R in SENS. 1 Publication
VAR_069973
Natural varianti31 – 311P → S in SENS. 1 Publication
VAR_069974
Natural varianti33 – 331H → P in SENS. 1 Publication
VAR_069975
Natural varianti33 – 331H → Q in SENS. 1 Publication
VAR_069976
Natural varianti62 – 621G → D in SENS. 1 Publication
VAR_069977
Natural varianti74 – 741H → P in SENS. 1 Publication
VAR_069978

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi181270. phenotype.
Orphaneti2036. Scalp-ear-nipple syndrome.
PharmGKBiPA30082.

Polymorphism and mutation databases

BioMutaiKCTD1.
DMDMi74738338.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 257257BTB/POZ domain-containing protein KCTD1PRO_0000247144Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei9 – 91Phosphoserine1 Publication
Modified residuei12 – 121Phosphoserine1 Publication

Post-translational modificationi

Sumoylated.1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiQ719H9.
PaxDbiQ719H9.
PRIDEiQ719H9.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ719H9.
CleanExiHS_KCTD1.
ExpressionAtlasiQ719H9. baseline and differential.
GenevisibleiQ719H9. HS.

Interactioni

Subunit structurei

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

Binary interactionsi

WithEntry#Exp.IntActNotes
EPM2AIP1Q7L7753EBI-9027502,EBI-6255981
EXOSC1Q9Y3B23EBI-9027502,EBI-371892
KCTD15Q96SI13EBI-9027502,EBI-715783
LMO3Q8TAP43EBI-9027502,EBI-742259
LNX1Q8TBB13EBI-9027502,EBI-739832
POLR1CO151603EBI-9027502,EBI-1055079
PRKAA2P546463EBI-9027502,EBI-1383852
PSMA1P257863EBI-9027502,EBI-359352
SDCBPO005603EBI-9027502,EBI-727004
TRAPPC2P0DI813EBI-9027502,EBI-5663373
UBE2IQ7KZS03EBI-9027502,EBI-10180829
WDYHV1Q96HA83EBI-9027502,EBI-741158
ZBTB25P242783EBI-9027502,EBI-739899

Protein-protein interaction databases

BioGridi129804. 20 interactions.
IntActiQ719H9. 15 interactions.
STRINGi9606.ENSP00000408405.

Structurei

3D structure databases

ProteinModelPortaliQ719H9.
SMRiQ719H9. Positions 32-133.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini30 – 10071BTBAdd
BLAST

Sequence similaritiesi

Contains 1 BTB (POZ) domain.Curated

Phylogenomic databases

eggNOGiNOG318666.
GeneTreeiENSGT00760000119013.
HOGENOMiHOG000232179.
HOVERGENiHBG055358.
InParanoidiQ719H9.
PhylomeDBiQ719H9.

Family and domain databases

InterProiIPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti141 – 1411E → K in BAF82559 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti30 – 301A → E in SENS. 1 Publication
VAR_069971
Natural varianti31 – 311P → L in SENS. 1 Publication
VAR_069972
Natural varianti31 – 311P → R in SENS. 1 Publication
VAR_069973
Natural varianti31 – 311P → S in SENS. 1 Publication
VAR_069974
Natural varianti33 – 331H → P in SENS. 1 Publication
VAR_069975
Natural varianti33 – 331H → Q in SENS. 1 Publication
VAR_069976
Natural varianti62 – 621G → D in SENS. 1 Publication
VAR_069977
Natural varianti74 – 741H → P in SENS. 1 Publication
VAR_069978
Natural varianti107 – 1071L → W.
Corresponds to variant rs491684 [ dbSNP | Ensembl ].
VAR_049722

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.
UniGeneiHs.526630.

Genome annotation databases

EnsembliENST00000317932; ENSP00000314831; ENSG00000134504.
ENST00000408011; ENSP00000384367; ENSG00000134504.
ENST00000417602; ENSP00000408405; ENSG00000134504.
ENST00000579973; ENSP00000464170; ENSG00000134504.
ENST00000580059; ENSP00000463041; ENSG00000134504.
GeneIDi284252.
KEGGihsa:284252.
UCSCiuc002kvw.4. 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.
UniGeneiHs.526630.

3D structure databases

ProteinModelPortaliQ719H9.
SMRiQ719H9. Positions 32-133.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129804. 20 interactions.
IntActiQ719H9. 15 interactions.
STRINGi9606.ENSP00000408405.

Polymorphism and mutation databases

BioMutaiKCTD1.
DMDMi74738338.

Proteomic databases

MaxQBiQ719H9.
PaxDbiQ719H9.
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.4. human.

Organism-specific databases

CTDi284252.
GeneCardsiGC18M024034.
HGNCiHGNC:18249. KCTD1.
MIMi181270. phenotype.
613420. gene.
neXtProtiNX_Q719H9.
Orphaneti2036. Scalp-ear-nipple syndrome.
PharmGKBiPA30082.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG318666.
GeneTreeiENSGT00760000119013.
HOGENOMiHOG000232179.
HOVERGENiHBG055358.
InParanoidiQ719H9.
PhylomeDBiQ719H9.

Miscellaneous databases

GenomeRNAii284252.
NextBioi94657.
PROiQ719H9.
SOURCEiSearch...

Gene expression databases

BgeeiQ719H9.
CleanExiHS_KCTD1.
ExpressionAtlasiQ719H9. baseline and differential.
GenevisibleiQ719H9. HS.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and characterization of a novel human gene, potassium channel tetramerization domain containing 1 (KCTD1)."
    Zhang D.L., Cai J.J., Ma D.L.
    Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Caudate nucleus.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Skin.
  4. "Systematic identification and analysis of mammalian small ubiquitin-like modifier substrates."
    Gocke C.B., Yu H., Kang J.
    J. Biol. Chem. 280:5004-5012(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUMOYLATION.
  5. "Characterization and expression of a human KCTD1 gene containing the BTB domain, which mediates transcriptional repression and homomeric interactions."
    Ding X.F., Luo C., Ren K.Q., Zhang J., Zhou J.L., Hu X., Liu R.S., Wang Y., Gao X., Zhang J.
    DNA Cell Biol. 27:257-265(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, HOMODIMERIZATION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-9 AND SER-12, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. "The interaction of KCTD1 with transcription factor AP-2alpha inhibits its transactivation."
    Ding X., Luo C., Zhou J., Zhong Y., Hu X., Zhou F., Ren K., Gan L., He A., Zhu J., Gao X., Zhang J.
    J. Cell. Biochem. 106:285-295(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH TFAP2A; TFAP2B AND TFAP2C.
  8. Cited for: VARIANTS SENS GLU-30; ARG-31; LEU-31; SER-31; GLN-33; PRO-33; ASP-62 AND PRO-74.

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: July 22, 2015
This is version 97 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

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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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 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.