KBTBC_MOUSE
ID KBTBC_MOUSE Reviewed; 625 AA.
AC Q9D618; E9QJU5;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 27-JUL-2011, sequence version 3.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=Kelch repeat and BTB domain-containing protein 12;
DE AltName: Full=Kelch domain-containing protein 6;
GN Name=Kbtbd12; Synonyms=Klhdc6;
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] (ISOFORM 2).
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 [2]
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).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9D618-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9D618-2; Sequence=VSP_032356, VSP_032357;
CC -!- MISCELLANEOUS: [Isoform 2]: Due to intron retention. {ECO:0000305}.
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DR EMBL; AK014702; BAB29512.1; -; mRNA.
DR EMBL; AC154038; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS51842.2; -. [Q9D618-1]
DR RefSeq; NP_001265600.1; NM_001278671.1. [Q9D618-1]
DR AlphaFoldDB; Q9D618; -.
DR SMR; Q9D618; -.
DR STRING; 10090.ENSMUSP00000112581; -.
DR iPTMnet; Q9D618; -.
DR PhosphoSitePlus; Q9D618; -.
DR jPOST; Q9D618; -.
DR PaxDb; Q9D618; -.
DR PRIDE; Q9D618; -.
DR ProteomicsDB; 301753; -. [Q9D618-1]
DR Antibodypedia; 52602; 29 antibodies from 11 providers.
DR DNASU; 74589; -.
DR Ensembl; ENSMUST00000120933; ENSMUSP00000112581; ENSMUSG00000033182. [Q9D618-1]
DR GeneID; 74589; -.
DR KEGG; mmu:74589; -.
DR UCSC; uc009cvk.3; mouse. [Q9D618-1]
DR CTD; 166348; -.
DR MGI; MGI:1918481; Kbtbd12.
DR VEuPathDB; HostDB:ENSMUSG00000033182; -.
DR eggNOG; KOG4441; Eukaryota.
DR GeneTree; ENSGT00940000156836; -.
DR HOGENOM; CLU_004253_14_2_1; -.
DR InParanoid; Q9D618; -.
DR OMA; GIGCLGR; -.
DR OrthoDB; 267586at2759; -.
DR PhylomeDB; Q9D618; -.
DR TreeFam; TF351656; -.
DR BioGRID-ORCS; 74589; 0 hits in 72 CRISPR screens.
DR ChiTaRS; Kbtbd12; mouse.
DR PRO; PR:Q9D618; -.
DR Proteomes; UP000000589; Chromosome 6.
DR RNAct; Q9D618; protein.
DR Bgee; ENSMUSG00000033182; Expressed in hindlimb stylopod muscle and 60 other tissues.
DR ExpressionAtlas; Q9D618; baseline and differential.
DR Genevisible; Q9D618; MM.
DR Gene3D; 2.120.10.80; -; 1.
DR Gene3D; 3.30.710.10; -; 1.
DR InterPro; IPR011705; BACK.
DR InterPro; IPR017096; BTB-kelch_protein.
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; PF07707; BACK; 1.
DR Pfam; PF00651; BTB; 1.
DR Pfam; PF01344; Kelch_1; 4.
DR PIRSF; PIRSF037037; Kelch-like_protein_gigaxonin; 1.
DR SMART; SM00875; BACK; 1.
DR SMART; SM00225; BTB; 1.
DR SMART; SM00612; Kelch; 4.
DR SUPFAM; SSF117281; SSF117281; 1.
DR SUPFAM; SSF54695; SSF54695; 1.
DR PROSITE; PS50097; BTB; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Kelch repeat; Reference proteome; Repeat.
FT CHAIN 1..625
FT /note="Kelch repeat and BTB domain-containing protein 12"
FT /id="PRO_0000324767"
FT DOMAIN 29..96
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT DOMAIN 131..233
FT /note="BACK"
FT REPEAT 384..434
FT /note="Kelch 1"
FT REPEAT 435..490
FT /note="Kelch 2"
FT REPEAT 492..545
FT /note="Kelch 3"
FT REPEAT 551..601
FT /note="Kelch 4"
FT VAR_SEQ 356..371
FT /note="YHDRGNQFWEKLCTAE -> CVSHSRFGIFCFVLLR (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_032356"
FT VAR_SEQ 372..625
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_032357"
FT CONFLICT 96
FT /note="N -> Y (in Ref. 1; BAB29512)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 625 AA; 71191 MW; E4AFA126721CB50F CRC64;
MECKTKGKHQ HSLNLLDKIK NMKELEEMID VVLIAEEEKF PCHRLVLAAF SPYFKAMFTC
GLLECTQREV ILYDITAESV SVILNYMYSA VLEINNANVQ TVAMAAYFMQ MEEVFSVCQN
YMMDHMDASN CIGIYYFAKQ IGAEDLSDQS KKYLYQHFAE VSLHGEILDI EAHQLLALIK
SDDLNISREE SILDLVLRWV NHNQALRTEH LVELLKQVRL ELINASFLRQ ALRRNTMLLC
DGSCIDIIQN AFKAIKTPQQ HPSNLRYGME TTSLLLCIGN NSSGIRSRHR SYGDASFCYD
PVSHKTYFIS SPKYGEGLGT VCTGVVMENN TVIVAGEATA TRLSRQKSKN IEIYRYHDRG
NQFWEKLCTA EFRELYALGS IHNDLYVIGG QMKIKNQYLI TNCVDKYSVD QDNWKRVSPL
PLQLACHAVV TVNNKLYVIG GWTPQMDLPD EEPDRLSNKL LQYDPSQDQW RERAPMRYSK
YRFSAAVVNS EIYVLGGIGC VGRDKGQVRK CLDVVEIYNP DGDFWREGPP MPSPLLSLRT
NSTSAGAVDG KLYVCGGFHG ADRHEVISKE ILELDPWENQ WNVVAINVLM HDSYDVCLVA
RMNPRDLIPP PSDLIEEDGD HRGQR
