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Q719H9 (KCTD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
BTB/POZ domain-containing protein KCTD1
Alternative name(s):
Potassium channel tetramerization domain-containing protein 1
Gene names
Name:KCTD1
Synonyms:C18orf5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length257 AA.
Sequence statusComplete.
Protein existenceEvidence 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

Involvement in disease

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. Ref.8

Sequence similarities

Contains 1 BTB (POZ) domain.

Ontologies

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 257257BTB/POZ domain-containing protein KCTD1
PRO_0000247144

Regions

Domain30 – 10071BTB

Amino acid modifications

Modified residue91Phosphoserine Ref.6
Modified residue121Phosphoserine Ref.6

Natural variations

Natural variant301A → E in SENS. Ref.8
VAR_069971
Natural variant311P → L in SENS. Ref.8
VAR_069972
Natural variant311P → R in SENS. Ref.8
VAR_069973
Natural variant311P → S in SENS. Ref.8
VAR_069974
Natural variant331H → P in SENS. Ref.8
VAR_069975
Natural variant331H → Q in SENS. Ref.8
VAR_069976
Natural variant621G → D in SENS. Ref.8
VAR_069977
Natural variant741H → P in SENS. Ref.8
VAR_069978
Natural variant1071L → W.
Corresponds to variant rs491684 [ dbSNP | Ensembl ].
VAR_049722

Experimental info

Sequence conflict1411E → K in BAF82559. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q719H9 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: 0513F3483A3C13A6

FASTA25729,405
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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, 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]"Mutations in KCTD1 cause scalp-ear-nipple syndrome."
Marneros A.G., Beck A.E., Turner E.H., McMillin M.J., Edwards M.J., Field M., de Macena Sobreira N.L., Perez A.B., Fortes J.A., Lampe A.K., Giovannucci Uzielli M.L., Gordon C.T., Plessis G., Le Merrer M., Amiel J., Reichenberger E., Shively K.M., Cerrato F. expand/collapse author list , Labow B.I., Tabor H.K., Smith J.D., Shendure J., Nickerson D.A., Bamshad M.J.
Am. J. Hum. Genet. 92:621-626(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SENS GLU-30; ARG-31; LEU-31; SER-31; GLN-33; PRO-33; ASP-62 AND PRO-74.
+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.
RefSeqNP_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.
UniGeneHs.526630.

3D structure databases

ProteinModelPortalQ719H9.
SMRQ719H9. Positions 27-166.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid129804. 4 interactions.
IntActQ719H9. 1 interaction.
STRING9606.ENSP00000408405.

Polymorphism databases

DMDM74738338.

Proteomic databases

PaxDbQ719H9.
PRIDEQ719H9.

Protocols and materials databases

DNASU284252.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000317932; ENSP00000314831; ENSG00000134504.
ENST00000408011; ENSP00000384367; ENSG00000134504.
ENST00000579973; ENSP00000464170; ENSG00000134504.
ENST00000580059; ENSP00000463041; ENSG00000134504.
GeneID284252.
KEGGhsa:284252.
UCSCuc002kvw.4. human.

Organism-specific databases

CTD284252.
GeneCardsGC18M024034.
HGNCHGNC:18249. KCTD1.
MIM181270. phenotype.
613420. gene.
neXtProtNX_Q719H9.
Orphanet2036. Scalp-ear-nipple syndrome.
PharmGKBPA30082.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG318666.
HOGENOMHOG000232179.
HOVERGENHBG055358.
InParanoidQ719H9.
PhylomeDBQ719H9.

Gene expression databases

ArrayExpressQ719H9.
BgeeQ719H9.
CleanExHS_KCTD1.
GenevestigatorQ719H9.

Family and domain databases

Gene3D3.30.710.10. 1 hit.
InterProIPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR003131. T1-type_BTB.
[Graphical view]
PfamPF02214. BTB_2. 1 hit.
[Graphical view]
SMARTSM00225. BTB. 1 hit.
[Graphical view]
SUPFAMSSF54695. SSF54695. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi284252.
NextBio94657.
PROQ719H9.
SOURCESearch...

Entry information

Entry nameKCTD1_HUMAN
AccessionPrimary (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: April 16, 2014
This is version 85 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 18

Human chromosome 18: entries, gene names and cross-references to MIM