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Q96MP8

- KCTD7_HUMAN

UniProt

Q96MP8 - KCTD7_HUMAN

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Protein
BTB/POZ domain-containing protein KCTD7
Gene
KCTD7
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. cell death Source: UniProtKB-KW
  2. protein homooligomerization Source: InterPro
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: Chromosome 7

Organism-specific databases

HGNCiHGNC:21957. KCTD7.

Subcellular locationi

Cell membrane. Cytoplasmcytosol 2 Publications

GO - Cellular componenti

  1. cytosol Source: UniProtKB-SubCell
  2. plasma membrane Source: UniProtKB-SubCell
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) [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.4 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti94 – 941R → W in EPM3. 2 Publications
VAR_068776
Natural varianti108 – 1081L → M in EPM3. 1 Publication
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 (1 Publication).

Keywords - Diseasei

Disease mutation, Epilepsy, Neurodegeneration, Neuronal ceroid lipofuscinosis

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 289289BTB/POZ domain-containing protein KCTD7
PRO_0000251476Add
BLAST

Proteomic databases

MaxQBiQ96MP8.
PaxDbiQ96MP8.
PRIDEiQ96MP8.

PTM databases

PhosphoSiteiQ96MP8.

Expressioni

Gene expression databases

ArrayExpressiQ96MP8.
BgeeiQ96MP8.
CleanExiHS_KCTD7.
GenevestigatoriQ96MP8.

Interactioni

Subunit structurei

Interacts with CUL3.1 Publication

Protein-protein interaction databases

BioGridi127564. 5 interactions.
STRINGi9606.ENSP00000275532.

Structurei

3D structure databases

ProteinModelPortaliQ96MP8.
SMRiQ96MP8. Positions 51-142.

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

Contains 1 BTB (POZ) domain.

Phylogenomic databases

eggNOGiNOG284422.
HOGENOMiHOG000113201.
HOVERGENiHBG052220.
InParanoidiQ96MP8.
OMAiKKARFAK.
OrthoDBiEOG790G15.

Family and domain databases

Gene3Di3.30.710.10. 1 hit.
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. Align

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

MVVVTGREPD SRRQDGAMSS SDAEDDFLEP ATPTATQAGH ALPLLPQEFP    50
EVVPLNIGGA HFTTRLSTLR CYEDTMLAAM FSGRHYIPTD SEGRYFIDRD 100
GTHFGDVLNF LRSGDLPPRE RVRAVYKEAQ YYAIGPLLEQ LENMQPLKGE 150
KVRQAFLGLM PYYKDHLERI VEIARLRAVQ RKARFAKLKV CVFKEEMPIT 200
PYECPLLNSL RFERSESDGQ LFEHHCEVDV SFGPWEAVAD VYDLLHCLVT 250
DLSAQGLTVD HQCIGVCDKH LVNHYYCKRP IYEFKITWW 289
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. 1 Publication
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.
VSP_020760

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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. [Q96MP8-1]
ENST00000443322; ENSP00000411624; ENSG00000243335. [Q96MP8-2]
GeneIDi154881.
KEGGihsa:154881.
UCSCiuc003tvd.4. human. [Q96MP8-1]

Polymorphism databases

DMDMi74732414.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK056631 mRNA. Translation: BAB71236.1 .
CH236961 Genomic DNA. Translation: EAL23735.1 .
CH471140 Genomic DNA. Translation: EAX07919.1 .
BC042482 mRNA. Translation: AAH42482.1 .
CCDSi CCDS55117.1. [Q96MP8-2 ]
CCDS5534.1. [Q96MP8-1 ]
RefSeqi NP_001161433.1. NM_001167961.2. [Q96MP8-2 ]
NP_694578.1. NM_153033.4. [Q96MP8-1 ]
UniGenei Hs.546627.

3D structure databases

ProteinModelPortali Q96MP8.
SMRi Q96MP8. Positions 51-142.
ModBasei Search...

Protein-protein interaction databases

BioGridi 127564. 5 interactions.
STRINGi 9606.ENSP00000275532.

PTM databases

PhosphoSitei Q96MP8.

Polymorphism databases

DMDMi 74732414.

Proteomic databases

MaxQBi Q96MP8.
PaxDbi Q96MP8.
PRIDEi Q96MP8.

Protocols and materials databases

DNASUi 154881.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000275532 ; ENSP00000275532 ; ENSG00000243335 . [Q96MP8-1 ]
ENST00000443322 ; ENSP00000411624 ; ENSG00000243335 . [Q96MP8-2 ]
GeneIDi 154881.
KEGGi hsa:154881.
UCSCi uc003tvd.4. human. [Q96MP8-1 ]

Organism-specific databases

CTDi 154881.
GeneCardsi GC07P066093.
GeneReviewsi KCTD7.
HGNCi HGNC:21957. KCTD7.
MIMi 611725. gene.
611726. phenotype.
neXtProti NX_Q96MP8.
Orphaneti 263516. Progressive myoclonic epilepsy type 3.
PharmGKBi PA134884591.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG284422.
HOGENOMi HOG000113201.
HOVERGENi HBG052220.
InParanoidi Q96MP8.
OMAi KKARFAK.
OrthoDBi EOG790G15.

Miscellaneous databases

ChiTaRSi KCTD7. human.
GeneWikii KCTD7.
GenomeRNAii 154881.
NextBioi 87335.
PROi Q96MP8.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q96MP8.
Bgeei Q96MP8.
CleanExi HS_KCTD7.
Genevestigatori Q96MP8.

Family and domain databases

Gene3Di 3.30.710.10. 1 hit.
InterProi IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR003131. T1-type_BTB.
[Graphical view ]
Pfami PF02214. BTB_2. 1 hit.
[Graphical view ]
SMARTi SM00225. BTB. 1 hit.
[Graphical view ]
SUPFAMi SSF54695. SSF54695. 1 hit.
ProtoNeti Search...

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.

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 9, 2014
This is version 96 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

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