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Protein

BTB/POZ domain-containing protein KCTD7

Gene

KCTD7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
BTB/POZ domain-containing protein KCTD7
Gene namesi
Name:KCTD7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:21957. KCTD7.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3)5 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn 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.

See also OMIM:611726
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti94 – 941R → W in EPM3. 2 Publications
VAR_068776
Natural varianti108 – 1081L → M in EPM3. 2 Publications
VAR_068777
Natural varianti115 – 1151D → Y in EPM3; uncertain pathological significance. 1 Publication
VAR_068778
Natural varianti184 – 1841R → C in EPM3; results in markedly diminished localization at the cell membrane and appearence of prominent cytoplasmic aggregates. 1 Publication
VAR_068779
Natural varianti273 – 2731N → I in EPM3. 1 Publication
VAR_068780

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 (PubMed:22638565).

Keywords - Diseasei

Disease mutation, Epilepsy, Neurodegeneration, Neuronal ceroid lipofuscinosis

Organism-specific databases

MIMi611726. phenotype.
Orphaneti263516. Progressive myoclonic epilepsy type 3.
PharmGKBiPA134884591.

Polymorphism and mutation databases

BioMutaiKCTD7.
DMDMi74732414.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 289289BTB/POZ domain-containing protein KCTD7PRO_0000251476Add
BLAST

Proteomic databases

MaxQBiQ96MP8.
PaxDbiQ96MP8.
PRIDEiQ96MP8.

PTM databases

PhosphoSiteiQ96MP8.

Expressioni

Gene expression databases

BgeeiQ96MP8.
CleanExiHS_KCTD7.
ExpressionAtlasiQ96MP8. baseline and differential.
GenevisibleiQ96MP8. HS.

Interactioni

Subunit structurei

Interacts with CUL3.1 Publication

Protein-protein interaction databases

BioGridi127564. 2 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ96MP8.
SMRiQ96MP8. Positions 51-142.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini51 – 14999BTBAdd
BLAST

Sequence similaritiesi

Contains 1 BTB (POZ) domain.Curated

Phylogenomic databases

eggNOGiNOG284422.
GeneTreeiENSGT00760000119013.
HOGENOMiHOG000113201.
HOVERGENiHBG052220.
InParanoidiQ96MP8.
OMAiHREAQYY.
OrthoDBiEOG790G15.

Family and domain databases

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.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96MP8-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MVVVTGREPD SRRQDGAMSS SDAEDDFLEP ATPTATQAGH ALPLLPQEFP
60 70 80 90 100
EVVPLNIGGA HFTTRLSTLR CYEDTMLAAM FSGRHYIPTD SEGRYFIDRD
110 120 130 140 150
GTHFGDVLNF LRSGDLPPRE RVRAVYKEAQ YYAIGPLLEQ LENMQPLKGE
160 170 180 190 200
KVRQAFLGLM PYYKDHLERI VEIARLRAVQ RKARFAKLKV CVFKEEMPIT
210 220 230 240 250
PYECPLLNSL RFERSESDGQ LFEHHCEVDV SFGPWEAVAD VYDLLHCLVT
260 270 280
DLSAQGLTVD HQCIGVCDKH LVNHYYCKRP IYEFKITWW
Length:289
Mass (Da):33,132
Last modified:December 1, 2001 - v1
Checksum:i1F0D1F618CD5E459
GO
Isoform 2 (identifier: Q96MP8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     289-289: Missing.

Note: No experimental confirmation available.
Show »
Length:288
Mass (Da):32,946
Checksum:i1D1F618CD5E45940
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti84 – 841R → W Probable disease-associated mutation found in a patient with opsoclonus-myoclonus ataxia-like syndrome. 1 Publication
VAR_068775
Natural varianti94 – 941R → W in EPM3. 2 Publications
VAR_068776
Natural varianti108 – 1081L → M in EPM3. 2 Publications
VAR_068777
Natural varianti115 – 1151D → Y in EPM3; uncertain pathological significance. 1 Publication
VAR_068778
Natural varianti184 – 1841R → C in EPM3; results in markedly diminished localization at the cell membrane and appearence of prominent cytoplasmic aggregates. 1 Publication
VAR_068779
Natural varianti273 – 2731N → I in EPM3. 1 Publication
VAR_068780

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei289 – 2891Missing in isoform 2. 1 PublicationVSP_020760

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056631 mRNA. Translation: BAB71236.1.
CH236961 Genomic DNA. Translation: EAL23735.1.
CH471140 Genomic DNA. Translation: EAX07919.1.
BC042482 mRNA. Translation: AAH42482.1.
CCDSiCCDS55117.1. [Q96MP8-2]
CCDS5534.1. [Q96MP8-1]
RefSeqiNP_001161433.1. NM_001167961.2. [Q96MP8-2]
NP_694578.1. NM_153033.4. [Q96MP8-1]
UniGeneiHs.546627.

Genome annotation databases

EnsembliENST00000275532; ENSP00000275532; ENSG00000243335.
ENST00000443322; ENSP00000411624; ENSG00000243335. [Q96MP8-2]
GeneIDi154881.
KEGGihsa:154881.
UCSCiuc003tvd.4. human. [Q96MP8-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056631 mRNA. Translation: BAB71236.1.
CH236961 Genomic DNA. Translation: EAL23735.1.
CH471140 Genomic DNA. Translation: EAX07919.1.
BC042482 mRNA. Translation: AAH42482.1.
CCDSiCCDS55117.1. [Q96MP8-2]
CCDS5534.1. [Q96MP8-1]
RefSeqiNP_001161433.1. NM_001167961.2. [Q96MP8-2]
NP_694578.1. NM_153033.4. [Q96MP8-1]
UniGeneiHs.546627.

3D structure databases

ProteinModelPortaliQ96MP8.
SMRiQ96MP8. Positions 51-142.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127564. 2 interactions.

PTM databases

PhosphoSiteiQ96MP8.

Polymorphism and mutation databases

BioMutaiKCTD7.
DMDMi74732414.

Proteomic databases

MaxQBiQ96MP8.
PaxDbiQ96MP8.
PRIDEiQ96MP8.

Protocols and materials databases

DNASUi154881.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000275532; ENSP00000275532; ENSG00000243335.
ENST00000443322; ENSP00000411624; ENSG00000243335. [Q96MP8-2]
GeneIDi154881.
KEGGihsa:154881.
UCSCiuc003tvd.4. human. [Q96MP8-1]

Organism-specific databases

CTDi154881.
GeneCardsiGC07P066093.
GeneReviewsiKCTD7.
HGNCiHGNC:21957. KCTD7.
MIMi611725. gene.
611726. phenotype.
neXtProtiNX_Q96MP8.
Orphaneti263516. Progressive myoclonic epilepsy type 3.
PharmGKBiPA134884591.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG284422.
GeneTreeiENSGT00760000119013.
HOGENOMiHOG000113201.
HOVERGENiHBG052220.
InParanoidiQ96MP8.
OMAiHREAQYY.
OrthoDBiEOG790G15.

Miscellaneous databases

ChiTaRSiKCTD7. human.
GeneWikiiKCTD7.
GenomeRNAii154881.
NextBioi87335.
PROiQ96MP8.
SOURCEiSearch...

Gene expression databases

BgeeiQ96MP8.
CleanExiHS_KCTD7.
ExpressionAtlasiQ96MP8. baseline and differential.
GenevisibleiQ96MP8. HS.

Family and domain databases

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.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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. 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. Cited for: SUBCELLULAR LOCATION, INTERACTION WITH CUL3, VARIANT EPM3 CYS-184, CHARACTERIZATION OF VARIANT EPM3 CYS-184.
  7. 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. Cited for: VARIANT EPM3 TRP-94.
  10. Cited for: VARIANT EPM3 MET-108.

Entry informationi

Entry nameiKCTD7_HUMAN
AccessioniPrimary (citable) accession number: Q96MP8
Secondary accession number(s): A4D2M4, Q8IVR0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: December 1, 2001
Last modified: July 22, 2015
This is version 104 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 7
    Human chromosome 7: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.