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Q96MP8

- KCTD7_HUMAN

UniProt

Q96MP8 - KCTD7_HUMAN

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
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    • History
      Entry version 97 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    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

    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

    GO - Cellular componenti

    1. cytosol Source: UniProtKB-SubCell
    2. plasma membrane Source: UniProtKB-SubCell

    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.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 (PubMed:22638565).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 KCTD7PRO_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.
    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.
    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. 1 PublicationVSP_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...
    MobiDBi 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

    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: October 1, 2014
    This is version 97 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