KCTD7_MOUSE
ID KCTD7_MOUSE Reviewed; 289 AA.
AC Q8BJK1; B2RSZ3; Q3USA6; Q80WW8; Q8C0S7;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 122.
DE RecName: Full=BTB/POZ domain-containing protein KCTD7;
GN Name=Kctd7;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Cerebellum, Embryo, and Testis;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=Czech II; TISSUE=Lung, and Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP FUNCTION, TISSUE SPECIFICITY, AND INTERACTION WITH CUL3.
RX PubMed=21710140; DOI=10.1007/s12035-011-8194-0;
RA Azizieh R., Orduz D., Van Bogaert P., Bouschet T., Rodriguez W.,
RA Schiffmann S.N., Pirson I., Abramowicz M.J.;
RT "Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of
RT potassium conductance in neurons.";
RL Mol. Neurobiol. 44:111-121(2011).
RN [5]
RP TISSUE SPECIFICITY.
RX PubMed=22748208; DOI=10.1016/j.ajhg.2012.05.023;
RA Staropoli J.F., Karaa A., Lim E.T., Kirby A., Elbalalesy N., Romansky S.G.,
RA Leydiker K.B., Coppel S.H., Barone R., Xin W., MacDonald M.E.,
RA Abdenur J.E., Daly M.J., Sims K.B., Cotman S.L.;
RT "A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the
RT ubiquitin-proteasome system.";
RL Am. J. Hum. Genet. 91:202-208(2012).
RN [6]
RP TISSUE SPECIFICITY.
RX PubMed=22693283; DOI=10.1136/jmedgenet-2012-100859;
RA Kousi M., Anttila V., Schulz A., Calafato S., Jakkula E., Riesch E.,
RA Myllykangas L., Kalimo H., Topcu M., Gokben S., Alehan F., Lemke J.R.,
RA Alber M., Palotie A., Kopra O., Lehesjoki A.E.;
RT "Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy
RT gene.";
RL J. Med. Genet. 49:391-399(2012).
CC -!- FUNCTION: May be involved in the control of excitability of cortical
CC neurons. {ECO:0000269|PubMed:21710140}.
CC -!- SUBUNIT: Interacts with CUL3. {ECO:0000269|PubMed:21710140}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}. Cytoplasm, cytosol
CC {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: High expression in brain, particularly in post-
CC mitotic neurons. Expressed in the mitral cells of the olfactory bulbs,
CC the hippocampus, the deep layers of the cerebral cortex and Purkinje
CC cells of the cerebellum. Not detected in astrocytes or microglial
CC cells. Also expressed in heart, liver, spleen and kidney.
CC {ECO:0000269|PubMed:21710140, ECO:0000269|PubMed:22693283,
CC ECO:0000269|PubMed:22748208}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC26691.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK029942; BAC26691.1; ALT_FRAME; mRNA.
DR EMBL; AK083583; BAC38959.1; -; mRNA.
DR EMBL; AK140606; BAE24427.1; -; mRNA.
DR EMBL; CH466529; EDL19476.1; -; Genomic_DNA.
DR EMBL; BC051544; AAH51544.1; -; mRNA.
DR EMBL; BC139070; AAI39071.1; -; mRNA.
DR EMBL; BC141201; AAI41202.1; -; mRNA.
DR CCDS; CCDS19707.1; -.
DR RefSeq; NP_766097.1; NM_172509.3.
DR AlphaFoldDB; Q8BJK1; -.
DR SMR; Q8BJK1; -.
DR BioGRID; 229368; 2.
DR STRING; 10090.ENSMUSP00000044568; -.
DR iPTMnet; Q8BJK1; -.
DR PhosphoSitePlus; Q8BJK1; -.
DR PaxDb; Q8BJK1; -.
DR PRIDE; Q8BJK1; -.
DR ProteomicsDB; 269453; -.
DR Antibodypedia; 34857; 127 antibodies from 20 providers.
DR DNASU; 212919; -.
DR Ensembl; ENSMUST00000040616; ENSMUSP00000044568; ENSMUSG00000034110.
DR GeneID; 212919; -.
DR KEGG; mmu:212919; -.
DR UCSC; uc008zue.1; mouse.
DR CTD; 154881; -.
DR MGI; MGI:2442265; Kctd7.
DR VEuPathDB; HostDB:ENSMUSG00000034110; -.
DR eggNOG; KOG2723; Eukaryota.
DR GeneTree; ENSGT00940000161327; -.
DR HOGENOM; CLU_070345_1_0_1; -.
DR InParanoid; Q8BJK1; -.
DR OMA; PFQFPEV; -.
DR OrthoDB; 1377258at2759; -.
DR PhylomeDB; Q8BJK1; -.
DR TreeFam; TF315332; -.
DR Reactome; R-MMU-8951664; Neddylation.
DR Reactome; R-MMU-983168; Antigen processing: Ubiquitination & Proteasome degradation.
DR BioGRID-ORCS; 212919; 5 hits in 73 CRISPR screens.
DR ChiTaRS; Kctd7; mouse.
DR PRO; PR:Q8BJK1; -.
DR Proteomes; UP000000589; Chromosome 5.
DR RNAct; Q8BJK1; protein.
DR Bgee; ENSMUSG00000034110; Expressed in spermatocyte and 154 other tissues.
DR ExpressionAtlas; Q8BJK1; baseline and differential.
DR Genevisible; Q8BJK1; MM.
DR GO; GO:0005737; C:cytoplasm; ISO:MGI.
DR GO; GO:0005829; C:cytosol; IEA:UniProtKB-SubCell.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR GO; GO:0042802; F:identical protein binding; ISO:MGI.
DR GO; GO:0030007; P:cellular potassium ion homeostasis; IMP:UniProtKB.
DR GO; GO:0090461; P:glutamate homeostasis; ISO:MGI.
DR GO; GO:0060081; P:membrane hyperpolarization; IMP:UniProtKB.
DR GO; GO:0032411; P:positive regulation of transporter activity; IMP:UniProtKB.
DR GO; GO:0051260; P:protein homooligomerization; IEA:InterPro.
DR Gene3D; 3.30.710.10; -; 1.
DR InterPro; IPR000210; BTB/POZ_dom.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR InterPro; IPR003131; T1-type_BTB.
DR Pfam; PF02214; BTB_2; 1.
DR SMART; SM00225; BTB; 1.
DR SUPFAM; SSF54695; SSF54695; 1.
PE 1: Evidence at protein level;
KW Cell membrane; Cytoplasm; Membrane; Reference proteome.
FT CHAIN 1..289
FT /note="BTB/POZ domain-containing protein KCTD7"
FT /id="PRO_0000251474"
FT DOMAIN 53..141
FT /note="BTB"
FT REGION 1..42
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 19
FT /note="S -> C (in Ref. 1; BAE24427)"
FT /evidence="ECO:0000305"
FT CONFLICT 67
FT /note="S -> C (in Ref. 1; BAE24427)"
FT /evidence="ECO:0000305"
FT CONFLICT 89..91
FT /note="TDS -> HEA (in Ref. 3; AAH51544)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 289 AA; 33080 MW; 64263FA2AD19FC2F CRC64;
MVVVTGREPD SRHSDGAMSS SEAEDDFLEP ATPTATQAGH GLPLLPQEFP EVVPLNIGGA
HFTTRLSTLR RYEDTMLAAM FSGRHYIPTD SEGRYFIDRD GTHFGDVLNF LRSGDLPPRE
HVRAVHKEAQ YYAIGPLLEQ LENMQPLKGE KVRQAFLGLM PYYKDHLERI VEIARLRAVQ
RKARFAKLKV CVFKEEMPIT PYECPLLNSL RFERSESDGQ LFEHHCEVDV SFGPWEAVAD
VYDLLHCLVT DLSAQGLTVD HQCIGVCDKH LVNHYYCKRP IYEFKITWW
