Q96MP8 (KCTD7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
BTB/POZ domain-containing protein KCTD7

Gene names

Name:

KCTD7

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	289 AA.
Sequence status	Complete.
Protein existence	Evidence 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. Cytoplasm › cytosol 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 component	Cell membrane Cytoplasm Membrane
Coding sequence diversity	Alternative splicing
Disease	Disease mutation Epilepsy Neurodegeneration Neuronal ceroid lipofuscinosis
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell death Inferred from electronic annotation. Source: UniProtKB-KW protein homooligomerization Inferred from electronic annotation. Source: InterPro
Cellular_component	cytosol 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 289	289	BTB/POZ domain-containing protein KCTD7		PRO_0000251476
Regions
	Domain	51 – 149	99	BTB
Natural variations
	Alternative sequence	289	1	Missing in isoform 2.		VSP_020760
	Natural variant	84	1	R → W Probable disease-associated mutation found in a patient with opsoclonus-myoclonus ataxia-like syndrome. Ref.8		VAR_068775
	Natural variant	94	1	R → W in EPM3. Ref.7 Ref.9		VAR_068776
	Natural variant	108	1	L → M in EPM3. Ref.7		VAR_068777
	Natural variant	115	1	D → Y in EPM3; uncertain pathological significance. Ref.7		VAR_068778
	Natural variant	184	1	R → C in EPM3; results in markedly diminished localization at the cell membrane and appearence of prominent cytoplasmic aggregates. Ref.6		VAR_068779
	Natural variant	273	1	N → I in EPM3. Ref.7		VAR_068780

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 1F0D1F618CD5E459	FASTA	289	33,132
	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
	Isoform 2 [UniParc]. Checksum: 1D1F618CD5E45940	FASTA	288	32,946
	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 IYEFKITW

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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.
IPI	IPI00043242. IPI00786894.
RefSeq	NP_001161433.1. NM_001167961.2. NP_694578.1. NM_153033.4.
UniGene	Hs.546627.
3D structure databases
ProteinModelPortal	Q96MP8.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000275532.
PTM databases
PhosphoSite	Q96MP8.
Polymorphism databases
DMDM	74732414.
Proteomic databases
PaxDb	Q96MP8.
PRIDE	Q96MP8.
Protocols and materials databases
DNASU	154881.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000275532; ENSP00000275532; ENSG00000243335. ENST00000443322; ENSP00000411624; ENSG00000243335.
GeneID	154881.
KEGG	hsa:154881.
UCSC	uc003tvd.4. human.
Organism-specific databases
CTD	154881.
GeneCards	GC07P066093.
HGNC	HGNC:21957. KCTD7.
MIM	611725. gene. 611726. phenotype.
neXtProt	NX_Q96MP8.
Orphanet	263516. Progressive myoclonic epilepsy type 3.
PharmGKB	PA134884591.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG284422.
HOGENOM	HOG000113201.
HOVERGEN	HBG052220.
InParanoid	Q96MP8.
OMA	KKARFAK.
PhylomeDB	Q96MP8.
Gene expression databases
ArrayExpress	Q96MP8.
Bgee	Q96MP8.
CleanEx	HS_KCTD7.
Genevestigator	Q96MP8.
GermOnline	ENSG00000154710. 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
ChiTaRS	KCTD7. human.
GenomeRNAi	154881.
NextBio	87335.
SOURCE	Search...

Entry information

Entry name

KCTD7_HUMAN

Accession

Primary (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:	May 29, 2013
This is version 86 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.