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Q96MP8 (KCTD7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 93. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
BTB/POZ domain-containing protein KCTD7
Gene names
Name:KCTD7
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length289 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May be involved in the control of excitability of cortical neurons By similarity.

Subunit structure

Interacts with CUL3. Ref.6

Subcellular location

Cell membrane. Cytoplasmcytosol Ref.6 Ref.7.

Involvement in disease

Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) [MIM:611726]: An autosomal recessive, severe, progressive myoclonic epilepsy with early onset. Multifocal myoclonic seizures begin between 16 and 24 months of age after normal initial development. Neurodegeneration and regression occur with seizure onset. Other features include mental retardation, dysarthria, truncal ataxia, and loss of fine finger movements. EEG shows slow dysrhythmia, multifocal and occasionally generalized epileptiform discharges. In some patients, ultrastructural findings on skin biopsies identify intracellular accumulation of autofluorescent lipopigment storage material, consistent with neuronal ceroid lipofuscinosis.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.6 Ref.7 Ref.9

Defects in KCTD7 are a cause of opsoclonus-myoclonus ataxia-like syndrome. Opsoclonus myoclonus ataxia syndrome (OMS) is a rare pervasive and frequently permanent disorder that usually develops in previously healthy children with normal premorbid psychomotor development and characterized by association of abnormal eye movements (opsoclonus), severe dyskinesia (myoclonus), cerebellar ataxia, functional regression, and behavioral problems. The syndrome is considered to be an immune-mediated disorder and may be tumor-associated or idiopathic. OMS is one of a few steroid responsive disorders of childhood. KCTD7 mutations have been found in a patient with an atypical clinical presentation characterized by non-epileptic myoclonus and ataxia commencing in early infancy, abnormal opsoclonus-like eye movements, improvement of clinical symptoms under steroid treatment, and subsequent development of generalized epilepsy (Ref.8).

Sequence similarities

Contains 1 BTB (POZ) domain.

Ontologies

Keywords
   Cellular componentCell membrane
Cytoplasm
Membrane
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
Epilepsy
Neurodegeneration
Neuronal ceroid lipofuscinosis
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell death

Inferred from electronic annotation. Source: UniProtKB-KW

protein homooligomerization

Inferred from electronic annotation. Source: InterPro

   Cellular_componentcytosol

Inferred from electronic annotation. Source: UniProtKB-SubCell

plasma membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96MP8-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q96MP8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     289-289: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 289289BTB/POZ domain-containing protein KCTD7
PRO_0000251476

Regions

Domain51 – 14999BTB

Natural variations

Alternative sequence2891Missing in isoform 2.
VSP_020760
Natural variant841R → W Probable disease-associated mutation found in a patient with opsoclonus-myoclonus ataxia-like syndrome. Ref.8
VAR_068775
Natural variant941R → W in EPM3. Ref.7 Ref.9
VAR_068776
Natural variant1081L → M in EPM3. Ref.7
VAR_068777
Natural variant1151D → Y in EPM3; uncertain pathological significance. Ref.7
VAR_068778
Natural variant1841R → C in EPM3; results in markedly diminished localization at the cell membrane and appearence of prominent cytoplasmic aggregates. Ref.6
VAR_068779
Natural variant2731N → I in EPM3. Ref.7
VAR_068780

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: 1F0D1F618CD5E459

FASTA28933,132
        10         20         30         40         50         60 
MVVVTGREPD SRRQDGAMSS SDAEDDFLEP ATPTATQAGH ALPLLPQEFP EVVPLNIGGA 

        70         80         90        100        110        120 
HFTTRLSTLR CYEDTMLAAM FSGRHYIPTD SEGRYFIDRD GTHFGDVLNF LRSGDLPPRE 

       130        140        150        160        170        180 
RVRAVYKEAQ YYAIGPLLEQ LENMQPLKGE KVRQAFLGLM PYYKDHLERI VEIARLRAVQ 

       190        200        210        220        230        240 
RKARFAKLKV CVFKEEMPIT PYECPLLNSL RFERSESDGQ LFEHHCEVDV SFGPWEAVAD 

       250        260        270        280 
VYDLLHCLVT DLSAQGLTVD HQCIGVCDKH LVNHYYCKRP IYEFKITWW 

« Hide

Isoform 2 [UniParc].

Checksum: 1D1F618CD5E45940
Show »

FASTA28832,946

References

« Hide 'large scale' references
[1]"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] (ISOFORM 1).
Tissue: Brain.
[2]"Human chromosome 7: DNA sequence and biology."
Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. expand/collapse author list , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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] (ISOFORM 2).
Tissue: Brain.
[5]"Mutation of a potassium channel-related gene in progressive myoclonic epilepsy."
Van Bogaert P., Azizieh R., Desir J., Aeby A., De Meirleir L., Laes J.-F., Christiaens F., Abramowicz M.J.
Ann. Neurol. 61:579-586(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN EPM3.
[6]"A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system."
Staropoli J.F., Karaa A., Lim E.T., Kirby A., Elbalalesy N., Romansky S.G., Leydiker K.B., Coppel S.H., Barone R., Xin W., MacDonald M.E., Abdenur J.E., Daly M.J., Sims K.B., Cotman S.L.
Am. J. Hum. Genet. 91:202-208(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, INTERACTION WITH CUL3, VARIANT EPM3 CYS-184, CHARACTERIZATION OF VARIANT EPM3 CYS-184.
[7]"Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene."
Kousi M., Anttila V., Schulz A., Calafato S., Jakkula E., Riesch E., Myllykangas L., Kalimo H., Topcu M., Gokben S., Alehan F., Lemke J.R., Alber M., Palotie A., Kopra O., Lehesjoki A.E.
J. Med. Genet. 49:391-399(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, VARIANTS EPM3 TRP-94; MET-108; TYR-115 AND ILE-273.
[8]"A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome."
Blumkin L., Kivity S., Lev D., Cohen S., Shomrat R., Lerman-Sagie T., Leshinsky-Silver E.
J. Neurol. 259:2590-2598(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN OPSOCLONUS-MYOCLONUS ATAXIA-LIKE SYNDROME, VARIANT TRP-84.
[9]"Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy."
Krabichler B., Rostasy K., Baumann M., Karall D., Scholl-Burgi S., Schwarzer C., Gautsch K., Spreiz A., Kotzot D., Zschocke J., Fauth C., Haberlandt E.
Ann. Hum. Genet. 76:326-331(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT EPM3 TRP-94.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK056631 mRNA. Translation: BAB71236.1.
CH236961 Genomic DNA. Translation: EAL23735.1.
CH471140 Genomic DNA. Translation: EAX07919.1.
BC042482 mRNA. Translation: AAH42482.1.
RefSeqNP_001161433.1. NM_001167961.2.
NP_694578.1. NM_153033.4.
UniGeneHs.546627.

3D structure databases

ProteinModelPortalQ96MP8.
SMRQ96MP8. Positions 51-136.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127564. 5 interactions.
STRING9606.ENSP00000275532.

PTM databases

PhosphoSiteQ96MP8.

Polymorphism databases

DMDM74732414.

Proteomic databases

PaxDbQ96MP8.
PRIDEQ96MP8.

Protocols and materials databases

DNASU154881.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000275532; ENSP00000275532; ENSG00000243335. [Q96MP8-1]
ENST00000443322; ENSP00000411624; ENSG00000243335. [Q96MP8-2]
GeneID154881.
KEGGhsa:154881.
UCSCuc003tvd.4. human. [Q96MP8-1]

Organism-specific databases

CTD154881.
GeneCardsGC07P066093.
HGNCHGNC:21957. KCTD7.
MIM611725. gene.
611726. phenotype.
neXtProtNX_Q96MP8.
Orphanet263516. Progressive myoclonic epilepsy type 3.
PharmGKBPA134884591.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG284422.
HOGENOMHOG000113201.
HOVERGENHBG052220.
InParanoidQ96MP8.
OMAKKARFAK.
OrthoDBEOG790G15.
PhylomeDBQ96MP8.

Gene expression databases

ArrayExpressQ96MP8.
BgeeQ96MP8.
CleanExHS_KCTD7.
GenevestigatorQ96MP8.

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

ChiTaRSKCTD7. human.
GeneWikiKCTD7.
GenomeRNAi154881.
NextBio87335.
PROQ96MP8.
SOURCESearch...

Entry information

Entry nameKCTD7_HUMAN
AccessionPrimary (citable) accession number: Q96MP8
Secondary accession number(s): A4D2M4, Q8IVR0
Entry history
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: December 1, 2001
Last modified: March 19, 2014
This is version 93 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 7

Human chromosome 7: entries, gene names and cross-references to MIM