KBTBC_HUMAN
ID KBTBC_HUMAN Reviewed; 623 AA.
AC Q3ZCT8; B5MCC6; Q6ZRK1;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAR-2008, sequence version 2.
DT 03-AUG-2022, entry version 129.
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 Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 547-623.
RC TISSUE=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).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q3ZCT8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q3ZCT8-2; Sequence=VSP_032354, VSP_032355;
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DR EMBL; AK128176; BAC87309.1; -; mRNA.
DR EMBL; AC011311; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC041365; AAH41365.1; -; mRNA.
DR CCDS; CCDS33848.2; -. [Q3ZCT8-1]
DR RefSeq; NP_997218.2; NM_207335.2. [Q3ZCT8-1]
DR RefSeq; XP_005247224.1; XM_005247167.1.
DR RefSeq; XP_005247225.1; XM_005247168.4. [Q3ZCT8-1]
DR RefSeq; XP_011510792.1; XM_011512490.2.
DR AlphaFoldDB; Q3ZCT8; -.
DR SMR; Q3ZCT8; -.
DR BioGRID; 127926; 3.
DR STRING; 9606.ENSP00000385957; -.
DR iPTMnet; Q3ZCT8; -.
DR PhosphoSitePlus; Q3ZCT8; -.
DR BioMuta; KBTBD12; -.
DR DMDM; 172045732; -.
DR MassIVE; Q3ZCT8; -.
DR PaxDb; Q3ZCT8; -.
DR PeptideAtlas; Q3ZCT8; -.
DR PRIDE; Q3ZCT8; -.
DR Antibodypedia; 52602; 29 antibodies from 11 providers.
DR DNASU; 166348; -.
DR Ensembl; ENST00000343941.4; ENSP00000345478.4; ENSG00000187715.13. [Q3ZCT8-2]
DR Ensembl; ENST00000405109.5; ENSP00000385957.1; ENSG00000187715.13. [Q3ZCT8-1]
DR Ensembl; ENST00000405256.5; ENSP00000385879.1; ENSG00000187715.13. [Q3ZCT8-1]
DR GeneID; 166348; -.
DR KEGG; hsa:166348; -.
DR MANE-Select; ENST00000405109.5; ENSP00000385957.1; NM_207335.4; NP_997218.2.
DR UCSC; uc003eka.5; human. [Q3ZCT8-1]
DR CTD; 166348; -.
DR GeneCards; KBTBD12; -.
DR HGNC; HGNC:25731; KBTBD12.
DR HPA; ENSG00000187715; Tissue enhanced (heart muscle, skeletal muscle, tongue).
DR neXtProt; NX_Q3ZCT8; -.
DR OpenTargets; ENSG00000187715; -.
DR PharmGKB; PA165697420; -.
DR VEuPathDB; HostDB:ENSG00000187715; -.
DR eggNOG; KOG4441; Eukaryota.
DR GeneTree; ENSGT00940000156836; -.
DR HOGENOM; CLU_004253_14_2_1; -.
DR InParanoid; Q3ZCT8; -.
DR OMA; GIGCLGR; -.
DR OrthoDB; 267586at2759; -.
DR PhylomeDB; Q3ZCT8; -.
DR TreeFam; TF351656; -.
DR PathwayCommons; Q3ZCT8; -.
DR BioGRID-ORCS; 166348; 13 hits in 1110 CRISPR screens.
DR ChiTaRS; KBTBD12; human.
DR GenomeRNAi; 166348; -.
DR Pharos; Q3ZCT8; Tdark.
DR PRO; PR:Q3ZCT8; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q3ZCT8; protein.
DR Bgee; ENSG00000187715; Expressed in tibialis anterior and 117 other tissues.
DR ExpressionAtlas; Q3ZCT8; baseline and differential.
DR Genevisible; Q3ZCT8; HS.
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..623
FT /note="Kelch repeat and BTB domain-containing protein 12"
FT /id="PRO_0000324766"
FT DOMAIN 31..98
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT DOMAIN 133..235
FT /note="BACK"
FT REPEAT 386..436
FT /note="Kelch 1"
FT REPEAT 437..492
FT /note="Kelch 2"
FT REPEAT 494..547
FT /note="Kelch 3"
FT REPEAT 553..603
FT /note="Kelch 4"
FT VAR_SEQ 1..425
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_032354"
FT VAR_SEQ 426..447
FT /note="LACHAVVTVNNKLYVIGGWTPQ -> MIEETSFGKSYAQLNFENSMLW (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_032355"
FT VARIANT 22
FT /note="Q -> K (in dbSNP:rs4141499)"
FT /id="VAR_050055"
FT CONFLICT 547
FT /note="A -> S (in Ref. 3; AAH41365)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 623 AA; 71096 MW; 061A145B973A8589 CRC64;
MECKIEGKEK YQHSLNLLNK IQNMKELAEM IDVVLTAEGE KFPCHRLVLA AFSPYFKAMF
TCGLLECNQR EVILYDITAE SVSVLLNYMY NAALEINNAN VQTVAMAAYF MQMEEVFSVC
QKYMMDHMDA SNCLGIYYFA KQIGAEDLSD RSKKYLYQHF AEVSLHEEIL EIEVHQFLTL
IKSDDLNISR EESILDLVLR WVNHNKELRT VHLVELLKQV RLELVNPSFL RQALRRNTML
LCDADCVDII QNAFKAIKTP QQHSLNLRYG METTSLLLCI GNNSSGIRSR HRSYGDASFC
YDPVSRKTYF ISSPKYGEGL GTVCTGVVME NNTIIVAGEA SASKLSRQKN KNVEIYRYHD
RGNQFWEKLC TAEFRELYAL GSIHNDLYVI GGQMKIKNQY LITNCVDKYS VERDNWKRVS
PLPLQLACHA VVTVNNKLYV IGGWTPQMDL PDEEPDRLSN KLLQYDPSQD QWSVRAPMKY
SKYRFSTAVV NSEIYVLGGI GCVGQDKGQV RKCLDVVEIY NPDGDFWREG PPMPSPLLSL
RTNSTNAGAV DGKLYVCGGF HGADRHEVIS KEILELDPWE NQWNVVAINV LMHDSYDVCL
VARMNPRDLI PPPSDLVEEG NEH
