KBTB3_HUMAN
ID KBTB3_HUMAN Reviewed; 612 AA.
AC Q8NAB2; Q6N066; Q86X38; Q96NK5;
DT 19-SEP-2003, integrated into UniProtKB/Swiss-Prot.
DT 10-APR-2019, sequence version 3.
DT 03-AUG-2022, entry version 150.
DE RecName: Full=Kelch repeat and BTB domain-containing protein 3 {ECO:0000305};
DE AltName: Full=BTB and kelch domain-containing protein 3 {ECO:0000312|HGNC:HGNC:22934};
GN Name=KBTBD3 {ECO:0000312|HGNC:HGNC:22934};
GN Synonyms=BKLHD3 {ECO:0000312|HGNC:HGNC:22934};
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].
RC TISSUE=Brain, and Spleen;
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 MRNA].
RC TISSUE=Uterus;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
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 -!- CAUTION: It is uncertain whether Met-1 or Met-5 is the initiator.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC04012.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK092993; BAC04012.1; ALT_INIT; mRNA.
DR EMBL; BX640672; CAE45804.1; -; mRNA.
DR EMBL; AP001001; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471065; EAW67073.1; -; Genomic_DNA.
DR EMBL; BC117466; AAI17467.1; -; mRNA.
DR CCDS; CCDS8334.1; -.
DR RefSeq; NP_689646.2; NM_152433.3.
DR RefSeq; NP_940841.1; NM_198439.2.
DR RefSeq; XP_006718830.1; XM_006718767.3.
DR RefSeq; XP_011540920.1; XM_011542618.2.
DR AlphaFoldDB; Q8NAB2; -.
DR SMR; Q8NAB2; -.
DR BioGRID; 126820; 5.
DR IntAct; Q8NAB2; 1.
DR STRING; 9606.ENSP00000436262; -.
DR iPTMnet; Q8NAB2; -.
DR PhosphoSitePlus; Q8NAB2; -.
DR BioMuta; KBTBD3; -.
DR DMDM; 34921839; -.
DR MassIVE; Q8NAB2; -.
DR PaxDb; Q8NAB2; -.
DR PeptideAtlas; Q8NAB2; -.
DR PRIDE; Q8NAB2; -.
DR ProteomicsDB; 72667; -.
DR Antibodypedia; 54357; 92 antibodies from 15 providers.
DR DNASU; 143879; -.
DR Ensembl; ENST00000526793.5; ENSP00000436262.1; ENSG00000182359.15.
DR Ensembl; ENST00000531837.2; ENSP00000432163.1; ENSG00000182359.15.
DR GeneID; 143879; -.
DR KEGG; hsa:143879; -.
DR MANE-Select; ENST00000531837.2; ENSP00000432163.1; NM_198439.3; NP_940841.1.
DR UCSC; uc001pja.4; human.
DR CTD; 143879; -.
DR GeneCards; KBTBD3; -.
DR HGNC; HGNC:22934; KBTBD3.
DR HPA; ENSG00000182359; Low tissue specificity.
DR neXtProt; NX_Q8NAB2; -.
DR OpenTargets; ENSG00000182359; -.
DR PharmGKB; PA134920598; -.
DR VEuPathDB; HostDB:ENSG00000182359; -.
DR eggNOG; KOG4441; Eukaryota.
DR GeneTree; ENSGT00940000158415; -.
DR HOGENOM; CLU_004253_14_6_1; -.
DR InParanoid; Q8NAB2; -.
DR OMA; KGKCCRK; -.
DR OrthoDB; 254234at2759; -.
DR PhylomeDB; Q8NAB2; -.
DR TreeFam; TF329218; -.
DR PathwayCommons; Q8NAB2; -.
DR SignaLink; Q8NAB2; -.
DR BioGRID-ORCS; 143879; 15 hits in 1117 CRISPR screens.
DR ChiTaRS; KBTBD3; human.
DR GenomeRNAi; 143879; -.
DR Pharos; Q8NAB2; Tdark.
DR PRO; PR:Q8NAB2; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q8NAB2; protein.
DR Bgee; ENSG00000182359; Expressed in calcaneal tendon and 110 other tissues.
DR ExpressionAtlas; Q8NAB2; baseline and differential.
DR Genevisible; Q8NAB2; 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; IPR030589; KBTBD3.
DR InterPro; IPR015915; Kelch-typ_b-propeller.
DR InterPro; IPR006652; Kelch_1.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR PANTHER; PTHR24412:SF418; PTHR24412:SF418; 1.
DR Pfam; PF07707; BACK; 1.
DR Pfam; PF00651; BTB; 1.
DR Pfam; PF01344; Kelch_1; 2.
DR PIRSF; PIRSF037037; Kelch-like_protein_gigaxonin; 1.
DR SMART; SM00875; BACK; 1.
DR SMART; SM00225; BTB; 1.
DR SMART; SM00612; Kelch; 3.
DR SUPFAM; SSF117281; SSF117281; 1.
DR SUPFAM; SSF54695; SSF54695; 1.
DR PROSITE; PS50097; BTB; 1.
PE 2: Evidence at transcript level;
KW Kelch repeat; Reference proteome; Repeat.
FT CHAIN 1..612
FT /note="Kelch repeat and BTB domain-containing protein 3"
FT /id="PRO_0000119078"
FT DOMAIN 52..119
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT DOMAIN 154..254
FT /note="BACK"
FT /evidence="ECO:0000255"
FT REPEAT 295..341
FT /note="Kelch 1"
FT /evidence="ECO:0000255"
FT REPEAT 343..403
FT /note="Kelch 2"
FT /evidence="ECO:0000255"
FT REPEAT 404..454
FT /note="Kelch 3"
FT /evidence="ECO:0000255"
FT REPEAT 456..506
FT /note="Kelch 4"
FT /evidence="ECO:0000255"
FT REPEAT 552..599
FT /note="Kelch 5"
FT /evidence="ECO:0000255"
FT VARIANT 193
FT /note="M -> V (in dbSNP:rs35762821)"
FT /id="VAR_056124"
FT CONFLICT 1
FT /note="M -> K (in Ref. 1; BAC04012)"
FT /evidence="ECO:0000305"
FT CONFLICT 27
FT /note="N -> S (in Ref. 1; BAC04012)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 612 AA; 69839 MW; DE7B345AD871EE37 CRC64;
MELAMDNSYA FNQRSTCNGI PSEKKNNFLV SEDHGQKILS VLQNFREQNV FYDFKIIMKD
EIIPCHRCVL AACSDFFRAM FEVNMKERDD GSVTITNLSS KAVKAFLDYA YTGKTKITDD
NVEMFFQLSS FLQVSFLSKA CSDFLIKSIN LVNCLQLLSI SDSYGSTSLF DHALHFVQHH
FSLLFKSSDF LEMNFGVLQK CLESDELNVP EEEMVLKVVL SWTKHNLESR QKYLPHLIEK
VRLHQLSEET LQDCLFNEES LLKSTNCFDI IMDAIKCVQG SGGLFPDARP STTEKYIFIH
KTEENGENQY TFCYNIKSDS WKILPQSHLI DLPGSSLSSY GEKIFLTGGC KGKCCRTVRL
HIAESYHDAT DQTWCYCPVK NDFFLVSTMK TPRTMHTSVM ALDRLFVIGG KTRGSRDIKS
LLDVESYNPL SKEWISVSPL PRGIYYPEAS TCQNVIYVLG SEVEITDAFN PSLDCFFKYN
ATTDQWSELV AEFGQFFHAT LIKAVPVNCT LYICDLSTYK VYSFCPDTCV WKGEGSFECA
GFNAGAIGIE DKIYILGGDY APDEITDEVQ VYHSNRSEWE EVSPMPRALT EFYCQVIQFN
KYRDPWFSNL CA
