KBTBD_MOUSE
ID KBTBD_MOUSE Reviewed; 458 AA.
AC Q8C828;
DT 18-MAY-2010, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Kelch repeat and BTB domain-containing protein 13;
GN Name=Kbtbd13;
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 GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 38-458.
RC STRAIN=C57BL/6J; TISSUE=Head;
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 [3]
RP TISSUE SPECIFICITY.
RX PubMed=21109227; DOI=10.1016/j.ajhg.2010.10.020;
RA Sambuughin N., Yau K.S., Olive M., Duff R.M., Bayarsaikhan M., Lu S.,
RA Gonzalez-Mera L., Sivadorai P., Nowak K.J., Ravenscroft G., Mastaglia F.L.,
RA North K.N., Ilkovski B., Kremer H., Lammens M., van Engelen B.G.,
RA Fabian V., Lamont P., Davis M.R., Laing N.G., Goldfarb L.G.;
RT "Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause
RT nemaline myopathy with cores.";
RL Am. J. Hum. Genet. 87:842-847(2010).
CC -!- FUNCTION: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3
CC ubiquitin ligase complex. {ECO:0000250}.
CC -!- PATHWAY: Protein modification; protein ubiquitination.
CC -!- SUBUNIT: Component of the BCR(KBTBD13) E3 ubiquitin ligase complex, at
CC least composed of CUL3 and KBTBD13 and RBX1. Interacts with CUL3 (By
CC similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Expressed in skeletal muscle, heart and lung.
CC {ECO:0000269|PubMed:21109227}.
CC -!- DOMAIN: The BCB domain mediates the interaction with CUL3.
CC {ECO:0000250}.
CC -!- PTM: Autoubiquitinated. {ECO:0000250}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC33390.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AC114645; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK048611; BAC33390.1; ALT_INIT; mRNA.
DR CCDS; CCDS57682.1; -.
DR RefSeq; NP_083250.1; NM_028974.1.
DR AlphaFoldDB; Q8C828; -.
DR SMR; Q8C828; -.
DR STRING; 10090.ENSMUSP00000136872; -.
DR PhosphoSitePlus; Q8C828; -.
DR PaxDb; Q8C828; -.
DR PRIDE; Q8C828; -.
DR ProteomicsDB; 269242; -.
DR Antibodypedia; 56472; 58 antibodies from 14 providers.
DR Ensembl; ENSMUST00000068307; ENSMUSP00000136872; ENSMUSG00000054978.
DR GeneID; 74492; -.
DR KEGG; mmu:74492; -.
DR UCSC; uc009qde.2; mouse.
DR CTD; 390594; -.
DR MGI; MGI:1921742; Kbtbd13.
DR VEuPathDB; HostDB:ENSMUSG00000054978; -.
DR eggNOG; KOG1072; Eukaryota.
DR GeneTree; ENSGT00940000161629; -.
DR HOGENOM; CLU_049036_0_0_1; -.
DR InParanoid; Q8C828; -.
DR OMA; HTPTFEF; -.
DR OrthoDB; 558840at2759; -.
DR PhylomeDB; Q8C828; -.
DR TreeFam; TF328485; -.
DR Reactome; R-MMU-8951664; Neddylation.
DR Reactome; R-MMU-983168; Antigen processing: Ubiquitination & Proteasome degradation.
DR UniPathway; UPA00143; -.
DR BioGRID-ORCS; 74492; 2 hits in 73 CRISPR screens.
DR PRO; PR:Q8C828; -.
DR Proteomes; UP000000589; Chromosome 9.
DR RNAct; Q8C828; protein.
DR Bgee; ENSMUSG00000054978; Expressed in digastric muscle group and 46 other tissues.
DR Genevisible; Q8C828; MM.
DR GO; GO:0030016; C:myofibril; ISO:MGI.
DR GO; GO:0030018; C:Z disc; ISO:MGI.
DR GO; GO:0051015; F:actin filament binding; IDA:MGI.
DR GO; GO:0007015; P:actin filament organization; IMP:MGI.
DR GO; GO:0016567; P:protein ubiquitination; IEA:UniProtKB-UniPathway.
DR GO; GO:0014728; P:regulation of the force of skeletal muscle contraction; IMP:MGI.
DR GO; GO:0090076; P:relaxation of skeletal muscle; IMP:MGI.
DR Gene3D; 2.120.10.80; -; 1.
DR Gene3D; 3.30.710.10; -; 1.
DR InterPro; IPR000210; BTB/POZ_dom.
DR InterPro; IPR015915; Kelch-typ_b-propeller.
DR InterPro; IPR006652; Kelch_1.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR Pfam; PF01344; Kelch_1; 2.
DR SMART; SM00612; Kelch; 2.
DR SUPFAM; SSF117281; SSF117281; 1.
DR SUPFAM; SSF54695; SSF54695; 1.
DR PROSITE; PS50097; BTB; 1.
PE 2: Evidence at transcript level;
KW Cytoplasm; Kelch repeat; Reference proteome; Repeat; Ubl conjugation;
KW Ubl conjugation pathway.
FT CHAIN 1..458
FT /note="Kelch repeat and BTB domain-containing protein 13"
FT /id="PRO_0000393907"
FT DOMAIN 7..74
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT REPEAT 159..209
FT /note="Kelch 1"
FT REPEAT 210..258
FT /note="Kelch 2"
FT REPEAT 259..305
FT /note="Kelch 3"
FT REPEAT 307..350
FT /note="Kelch 4"
FT REPEAT 352..400
FT /note="Kelch 5"
SQ SEQUENCE 458 AA; 49769 MW; 6A9D89487D21B81F CRC64;
MPPGPEVPVQ VWVDGQLFQA EQSLLVEHCG FFRGLFRSGM REARAAEVRL GALSASGFRT
ALRVLRGERP ALAAEDELLQ AVECAAFLQA PALARFLEHS VTSDNCSLLC DAAAAFGLRD
VLHSAALFIR DGSHELVAQL ELPEARAYVA ALRPSTYVAV STHTPTPGFL EDASRTMCFL
DEEEDAWRTL AALPLEASTL LAGVATLGNK LYIVGGVCGA SKEVVELGFC YDPEGGTWCE
FPSPHQPRYD MALAGFEGRL YAIGGEFQRT PMSSVECYDP ATGCWSFVAD LPQPATGVPC
AQARGRLFVC LWRPADITAV VEYVVQMDKW LPVAELCRSQ SYGHFMVAHR DSLYVVRNGP
SDDFLHCAID CLNLVTGQWT SLPGQFVNSK GALFTSVVRG DTVYTVNRVS TLVYAIEDGT
WRLLREKAGF PRPGSLQTFL LRLPPGTTGP VATALPEL
