Q719H9 (KCTD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
BTB/POZ domain-containing protein KCTD1

Alternative name(s):
Potassium channel tetramerization domain-containing protein 1

Gene names

Name:	KCTD1
Synonyms:	C18orf5

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	257 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May repress the transcriptional activity of AP-2 family members, including TFAP2A, TFAP2B and TFAP2C to various extent. Ref.5 Ref.7
Subunit structure	Can form homodimers. Interacts with TFAP2A, TFAP2B and TFAP2C via the BTB domain. Ref.5 Ref.7
Subcellular location	Nucleus Ref.5.
Tissue specificity	Expressed in mammary gland, kidney, brain and ovary. Ref.5
Post-translational modification	Sumoylated. Ref.4
Sequence similarities	Contains 1 BTB (POZ) domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Molecular function	Repressor
PTM	Phosphoprotein Ubl conjugation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	negative regulation of transcription, DNA-dependent Inferred from direct assay Ref.7. Source: UniProtKB protein homooligomerization Inferred from electronic annotation. Source: InterPro transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from direct assay Ref.7. Source: UniProtKB
Molecular_function	transcription corepressor activity Inferred from direct assay Ref.7. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 257	257	BTB/POZ domain-containing protein KCTD1		PRO_0000247144
Regions
	Domain	30 – 100	71	BTB
Amino acid modifications
	Modified residue	9	1	Phosphoserine Ref.6
	Modified residue	12	1	Phosphoserine Ref.6
Natural variations
	Natural variant	107	1	L → W. Corresponds to variant rs491684 [ dbSNP | Ensembl ].		VAR_049722
Experimental info
	Sequence conflict	141	1	E → K in BAF82559. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q719H9 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: 0513F3483A3C13A6	FASTA	257	29,405
	10 20 30 40 50 60 MSRPLITRSP ASPLNNQGIP TPAQLTKSNA PVHIDVGGHM YTSSLATLTK YPESRIGRLF 70 80 90 100 110 120 DGTEPIVLDS LKQHYFIDRD GQMFRYILNF LRTSKLLIPD DFKDYTLLYE EAKYFQLQPM 130 140 150 160 170 180 LLEMERWKQD RETGRFSRPC ECLVVRVAPD LGERITLSGD KSLIEEVFPE IGDVMCNSVN 190 200 210 220 230 240 AGWNHDSTHV IRFPLNGYCH LNSVQVLERL QQRGFEIVGS CGGGVDSSQF SEYVLRRELR 250 RTPRVPSVIR IKQEPLD

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-9 AND SER-12, MASS SPECTROMETRY. 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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF542549 mRNA. Translation: AAQ09532.1. AK289870 mRNA. Translation: BAF82559.1. BC063652 mRNA. Translation: AAH63652.1.
IPI	IPI00644763.
RefSeq	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.
UniGene	Hs.526630.
3D structure databases
ProteinModelPortal	Q719H9.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000408405.
Polymorphism databases
DMDM	74738338.
Proteomic databases
PaxDb	Q719H9.
PRIDE	Q719H9.
Protocols and materials databases
DNASU	284252.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000317932; ENSP00000314831; ENSG00000134504. ENST00000408011; ENSP00000384367; ENSG00000134504. ENST00000579973; ENSP00000464170; ENSG00000134504. ENST00000580059; ENSP00000463041; ENSG00000134504.
GeneID	284252.
KEGG	hsa:284252.
UCSC	uc002kvw.3. human.
Organism-specific databases
CTD	284252.
GeneCards	GC18M024034.
HGNC	HGNC:18249. KCTD1.
MIM	613420. gene.
neXtProt	NX_Q719H9.
PharmGKB	PA30082.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG318666.
HOGENOM	HOG000232179.
HOVERGEN	HBG055358.
InParanoid	Q719H9.
OrthoDB	EOG4DFPP4.
PhylomeDB	Q719H9.
Gene expression databases
Bgee	Q719H9.
CleanEx	HS_KCTD1.
Genevestigator	Q719H9.
GermOnline	ENSG00000134504. Homo sapiens.
Family and domain databases
Gene3D	3.30.710.10. 1 hit.
InterPro	IPR000210. BTB/POZ-like. IPR011333. BTB/POZ_fold. IPR003131. T1-type_BTB. [Graphical view]
Pfam	PF02214. K_tetra. 1 hit. [Graphical view]
SMART	SM00225. BTB. 1 hit. [Graphical view]
SUPFAM	SSF54695. BTB/POZ_fold. 1 hit.
PROSITE	PS50097. BTB. False negative. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	284252.
NextBio	94657.
SOURCE	Search...

Entry information

Entry name

KCTD1_HUMAN

Accession

Primary (citable) accession number: Q719H9
Secondary accession number(s): A8K1F5

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 25, 2006
Last sequence update:	July 5, 2004
Last modified:	May 1, 2013
This is version 77 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.