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Q719H9

- KCTD1_HUMAN

UniProt

Q719H9 - KCTD1_HUMAN

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Protein
BTB/POZ domain-containing protein KCTD1
Gene
KCTD1, C18orf5
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. transcription corepressor activity Source: UniProtKB
  2. transcription factor binding Source: UniProtKB

GO - Biological processi

  1. negative regulation of transcription, DNA-templated Source: UniProtKB
  2. protein homooligomerization Source: InterPro
  3. transcription, DNA-templated Source: UniProtKB-KW
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: Chromosome 18

Organism-specific databases

HGNCiHGNC:18249. KCTD1.

Subcellular locationi

Nucleus 1 Publication

GO - Cellular componenti

  1. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Scalp-ear-nipple syndrome (SENS) [MIM:181270]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 257257BTB/POZ domain-containing protein KCTD1
PRO_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

ArrayExpressiQ719H9.
BgeeiQ719H9.
CleanExiHS_KCTD1.
GenevestigatoriQ719H9.

Interactioni

Subunit structurei

Can form homodimers. Interacts with TFAP2A, TFAP2B and TFAP2C via the BTB domain.2 Publications

Protein-protein interaction databases

BioGridi129804. 7 interactions.
IntActiQ719H9. 1 interaction.
STRINGi9606.ENSP00000408405.

Structurei

3D structure databases

ProteinModelPortaliQ719H9.
SMRiQ719H9. Positions 32-133.

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

Contains 1 BTB (POZ) domain.

Phylogenomic databases

eggNOGiNOG318666.
HOGENOMiHOG000232179.
HOVERGENiHBG055358.
InParanoidiQ719H9.
PhylomeDBiQ719H9.

Family and domain databases

Gene3Di3.30.710.10. 1 hit.
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

MSRPLITRSP ASPLNNQGIP TPAQLTKSNA PVHIDVGGHM YTSSLATLTK    50
YPESRIGRLF DGTEPIVLDS LKQHYFIDRD GQMFRYILNF LRTSKLLIPD 100
DFKDYTLLYE EAKYFQLQPM LLEMERWKQD RETGRFSRPC ECLVVRVAPD 150
LGERITLSGD KSLIEEVFPE IGDVMCNSVN AGWNHDSTHV IRFPLNGYCH 200
LNSVQVLERL QQRGFEIVGS CGGGVDSSQF SEYVLRRELR RTPRVPSVIR 250
IKQEPLD 257
Length:257
Mass (Da):29,405
Last modified:July 5, 2004 - v1
Checksum:i0513F3483A3C13A6
GO

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti141 – 1411E → K in BAF82559. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
ENST00000579973; ENSP00000464170; ENSG00000134504.
ENST00000580059; ENSP00000463041; ENSG00000134504.
GeneIDi284252.
KEGGihsa:284252.
UCSCiuc002kvw.4. human.

Polymorphism databases

DMDMi74738338.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF542549 mRNA. Translation: AAQ09532.1 .
AK289870 mRNA. Translation: BAF82559.1 .
BC063652 mRNA. Translation: AAH63652.1 .
CCDSi CCDS11888.1.
RefSeqi NP_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.
UniGenei Hs.526630.

3D structure databases

ProteinModelPortali Q719H9.
SMRi Q719H9. Positions 32-133.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 129804. 7 interactions.
IntActi Q719H9. 1 interaction.
STRINGi 9606.ENSP00000408405.

Polymorphism databases

DMDMi 74738338.

Proteomic databases

MaxQBi Q719H9.
PaxDbi Q719H9.
PRIDEi Q719H9.

Protocols and materials databases

DNASUi 284252.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000317932 ; ENSP00000314831 ; ENSG00000134504 .
ENST00000408011 ; ENSP00000384367 ; ENSG00000134504 .
ENST00000579973 ; ENSP00000464170 ; ENSG00000134504 .
ENST00000580059 ; ENSP00000463041 ; ENSG00000134504 .
GeneIDi 284252.
KEGGi hsa:284252.
UCSCi uc002kvw.4. human.

Organism-specific databases

CTDi 284252.
GeneCardsi GC18M024034.
HGNCi HGNC:18249. KCTD1.
MIMi 181270. phenotype.
613420. gene.
neXtProti NX_Q719H9.
Orphaneti 2036. Scalp-ear-nipple syndrome.
PharmGKBi PA30082.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG318666.
HOGENOMi HOG000232179.
HOVERGENi HBG055358.
InParanoidi Q719H9.
PhylomeDBi Q719H9.

Miscellaneous databases

GenomeRNAii 284252.
NextBioi 94657.
PROi Q719H9.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q719H9.
Bgeei Q719H9.
CleanExi HS_KCTD1.
Genevestigatori Q719H9.

Family and domain databases

Gene3Di 3.30.710.10. 1 hit.
InterProi IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR003131. T1-type_BTB.
[Graphical view ]
Pfami PF02214. BTB_2. 1 hit.
[Graphical view ]
SMARTi SM00225. BTB. 1 hit.
[Graphical view ]
SUPFAMi SSF54695. SSF54695. 1 hit.
ProtoNeti Search...

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: September 3, 2014
This is version 89 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

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