KBTB4_HUMAN
ID KBTB4_HUMAN Reviewed; 518 AA.
AC Q9NVX7; D3DQS1; D3DQS2; Q6IA85; Q9BUC3; Q9NV76;
DT 16-JAN-2004, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 3.
DT 03-AUG-2022, entry version 170.
DE RecName: Full=Kelch repeat and BTB domain-containing protein 4;
DE AltName: Full=BTB and kelch domain-containing protein 4;
GN Name=KBTBD4; Synonyms=BKLHD4;
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 1).
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] (ISOFORM 1).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Lymph node;
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 [4]
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 [5]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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).
RN [7]
RP STRUCTURE BY NMR OF 142-239.
RG RIKEN structural genomics initiative (RSGI);
RT "Solution structure of the back domain of KELCH repeat and BTB domain-
RT containing protein 4.";
RL Submitted (OCT-2007) to the PDB data bank.
CC -!- INTERACTION:
CC Q9NVX7-2; P54253: ATXN1; NbExp=6; IntAct=EBI-25871195, EBI-930964;
CC Q9NVX7-2; P04792: HSPB1; NbExp=3; IntAct=EBI-25871195, EBI-352682;
CC Q9NVX7-2; O60333-2: KIF1B; NbExp=3; IntAct=EBI-25871195, EBI-10975473;
CC Q9NVX7-2; O43933: PEX1; NbExp=3; IntAct=EBI-25871195, EBI-988601;
CC Q9NVX7-2; O60260-5: PRKN; NbExp=3; IntAct=EBI-25871195, EBI-21251460;
CC Q9NVX7-2; P49768-2: PSEN1; NbExp=3; IntAct=EBI-25871195, EBI-11047108;
CC Q9NVX7-2; Q9Y3C5: RNF11; NbExp=3; IntAct=EBI-25871195, EBI-396669;
CC Q9NVX7-2; P00441: SOD1; NbExp=3; IntAct=EBI-25871195, EBI-990792;
CC Q9NVX7-2; Q13148: TARDBP; NbExp=6; IntAct=EBI-25871195, EBI-372899;
CC Q9NVX7-2; O76024: WFS1; NbExp=3; IntAct=EBI-25871195, EBI-720609;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9NVX7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NVX7-2; Sequence=VSP_042068;
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DR EMBL; AK001312; BAA91616.1; -; mRNA.
DR EMBL; AK001749; BAA91880.1; -; mRNA.
DR EMBL; CR457270; CAG33551.1; -; mRNA.
DR EMBL; AL713735; CAD28521.1; -; mRNA.
DR EMBL; AC104942; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471064; EAW67898.1; -; Genomic_DNA.
DR EMBL; CH471064; EAW67899.1; -; Genomic_DNA.
DR EMBL; CH471064; EAW67900.1; -; Genomic_DNA.
DR EMBL; CH471064; EAW67901.1; -; Genomic_DNA.
DR EMBL; CH471064; EAW67902.1; -; Genomic_DNA.
DR EMBL; BC002736; AAH02736.1; -; mRNA.
DR CCDS; CCDS44594.1; -. [Q9NVX7-2]
DR CCDS; CCDS7940.1; -. [Q9NVX7-1]
DR RefSeq; NP_001305645.1; NM_001318716.1.
DR RefSeq; NP_001305646.1; NM_001318717.1.
DR RefSeq; NP_001305647.1; NM_001318718.1.
DR RefSeq; NP_001305648.1; NM_001318719.1.
DR RefSeq; NP_001305649.1; NM_001318720.1.
DR RefSeq; NP_001305650.1; NM_001318721.1. [Q9NVX7-1]
DR RefSeq; NP_001305651.1; NM_001318722.1. [Q9NVX7-1]
DR RefSeq; NP_001305652.1; NM_001318723.1. [Q9NVX7-1]
DR RefSeq; NP_001305653.1; NM_001318724.1. [Q9NVX7-1]
DR RefSeq; NP_001305654.1; NM_001318725.1. [Q9NVX7-1]
DR RefSeq; NP_057590.3; NM_016506.6. [Q9NVX7-1]
DR RefSeq; NP_060565.4; NM_018095.5. [Q9NVX7-2]
DR PDB; 2EQX; NMR; -; A=142-239.
DR PDBsum; 2EQX; -.
DR AlphaFoldDB; Q9NVX7; -.
DR BMRB; Q9NVX7; -.
DR SMR; Q9NVX7; -.
DR BioGRID; 120833; 28.
DR IntAct; Q9NVX7; 28.
DR MINT; Q9NVX7; -.
DR STRING; 9606.ENSP00000415106; -.
DR iPTMnet; Q9NVX7; -.
DR PhosphoSitePlus; Q9NVX7; -.
DR BioMuta; KBTBD4; -.
DR DMDM; 116242601; -.
DR EPD; Q9NVX7; -.
DR jPOST; Q9NVX7; -.
DR MassIVE; Q9NVX7; -.
DR MaxQB; Q9NVX7; -.
DR PaxDb; Q9NVX7; -.
DR PeptideAtlas; Q9NVX7; -.
DR PRIDE; Q9NVX7; -.
DR ProteomicsDB; 82878; -. [Q9NVX7-1]
DR ProteomicsDB; 82879; -. [Q9NVX7-2]
DR Antibodypedia; 48313; 93 antibodies from 13 providers.
DR DNASU; 55709; -.
DR Ensembl; ENST00000395288.6; ENSP00000378703.2; ENSG00000123444.14. [Q9NVX7-1]
DR Ensembl; ENST00000430070.7; ENSP00000415106.2; ENSG00000123444.14. [Q9NVX7-2]
DR Ensembl; ENST00000526005.5; ENSP00000433340.1; ENSG00000123444.14. [Q9NVX7-1]
DR Ensembl; ENST00000645388.1; ENSP00000495796.1; ENSG00000284900.2. [Q9NVX7-1]
DR Ensembl; ENST00000646317.1; ENSP00000495324.1; ENSG00000284900.2. [Q9NVX7-1]
DR Ensembl; ENST00000647201.2; ENSP00000495892.1; ENSG00000284900.2. [Q9NVX7-2]
DR GeneID; 55709; -.
DR KEGG; hsa:55709; -.
DR MANE-Select; ENST00000430070.7; ENSP00000415106.2; NM_018095.6; NP_060565.4. [Q9NVX7-2]
DR UCSC; uc001nfx.4; human. [Q9NVX7-1]
DR CTD; 55709; -.
DR DisGeNET; 55709; -.
DR GeneCards; KBTBD4; -.
DR HGNC; HGNC:23761; KBTBD4.
DR HPA; ENSG00000123444; Low tissue specificity.
DR MIM; 617645; gene.
DR neXtProt; NX_Q9NVX7; -.
DR OpenTargets; ENSG00000123444; -.
DR PharmGKB; PA134883813; -.
DR VEuPathDB; HostDB:ENSG00000123444; -.
DR eggNOG; KOG4441; Eukaryota.
DR GeneTree; ENSGT00940000158775; -.
DR HOGENOM; CLU_004253_14_6_1; -.
DR InParanoid; Q9NVX7; -.
DR OMA; RDNMWTE; -.
DR OrthoDB; 412256at2759; -.
DR PhylomeDB; Q9NVX7; -.
DR TreeFam; TF330249; -.
DR PathwayCommons; Q9NVX7; -.
DR SignaLink; Q9NVX7; -.
DR BioGRID-ORCS; 55709; 28 hits in 1113 CRISPR screens.
DR ChiTaRS; KBTBD4; human.
DR EvolutionaryTrace; Q9NVX7; -.
DR GenomeRNAi; 55709; -.
DR Pharos; Q9NVX7; Tdark.
DR PRO; PR:Q9NVX7; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q9NVX7; protein.
DR Bgee; ENSG00000123444; Expressed in islet of Langerhans and 109 other tissues.
DR ExpressionAtlas; Q9NVX7; baseline and differential.
DR Genevisible; Q9NVX7; HS.
DR CDD; cd18481; BACK_KBTBD4; 1.
DR CDD; cd18272; BTB_POZ_KBTBD4; 1.
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; IPR042884; KBTBD4.
DR InterPro; IPR042950; KBTBD4_BACK.
DR InterPro; IPR042949; KBTBD4_BTB_POZ.
DR InterPro; IPR015915; Kelch-typ_b-propeller.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR PANTHER; PTHR47195; PTHR47195; 1.
DR Pfam; PF07707; BACK; 1.
DR Pfam; PF00651; BTB; 1.
DR PIRSF; PIRSF037037; Kelch-like_protein_gigaxonin; 1.
DR SMART; SM00875; BACK; 1.
DR SMART; SM00225; BTB; 1.
DR SUPFAM; SSF117281; SSF117281; 1.
DR SUPFAM; SSF54695; SSF54695; 1.
DR PROSITE; PS50097; BTB; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Kelch repeat; Reference proteome;
KW Repeat.
FT CHAIN 1..518
FT /note="Kelch repeat and BTB domain-containing protein 4"
FT /id="PRO_0000119080"
FT DOMAIN 45..112
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT DOMAIN 147..239
FT /note="BACK"
FT REPEAT 239..285
FT /note="Kelch 1"
FT REPEAT 286..328
FT /note="Kelch 2"
FT REPEAT 331..378
FT /note="Kelch 3"
FT REPEAT 380..430
FT /note="Kelch 4"
FT REPEAT 432..481
FT /note="Kelch 5"
FT VAR_SEQ 1
FT /note="M -> MKGGNADSWQREKLASM (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_042068"
FT VARIANT 330
FT /note="D -> N (in dbSNP:rs11039302)"
FT /id="VAR_028046"
FT CONFLICT 195
FT /note="I -> T (in Ref. 1; BAA91616)"
FT /evidence="ECO:0000305"
FT CONFLICT 254
FT /note="A -> G (in Ref. 1; BAA91616)"
FT /evidence="ECO:0000305"
FT CONFLICT 443
FT /note="C -> R (in Ref. 1; BAA91616)"
FT /evidence="ECO:0000305"
FT CONFLICT 478
FT /note="V -> A (in Ref. 2; CAG33551)"
FT /evidence="ECO:0000305"
FT CONFLICT 500
FT /note="V -> I (in Ref. 1; BAA91616/BAA91880)"
FT /evidence="ECO:0000305"
FT TURN 144..146
FT /evidence="ECO:0007829|PDB:2EQX"
FT HELIX 147..156
FT /evidence="ECO:0007829|PDB:2EQX"
FT HELIX 160..172
FT /evidence="ECO:0007829|PDB:2EQX"
FT HELIX 175..178
FT /evidence="ECO:0007829|PDB:2EQX"
FT HELIX 181..185
FT /evidence="ECO:0007829|PDB:2EQX"
FT HELIX 188..196
FT /evidence="ECO:0007829|PDB:2EQX"
FT HELIX 205..214
FT /evidence="ECO:0007829|PDB:2EQX"
FT HELIX 217..230
FT /evidence="ECO:0007829|PDB:2EQX"
FT STRAND 233..236
FT /evidence="ECO:0007829|PDB:2EQX"
SQ SEQUENCE 518 AA; 58144 MW; 4522BC807A22D70D CRC64;
MESPEEPGAS MDENYFVNYT FKDRSHSGRV AQGIMKLCLE EELFADVTIS VEGREFQLHR
LVLSAQSCFF RSMFTSNLKE AHNRVIVLQD VSESVFQLLV DYIYHGTVKL RAEELQEIYE
VSDMYQLTSL FEECSRFLAR TVQVGNCLQV MWLADRHSDP ELYTAAKHCA KTHLAQLQNT
EEFLHLPHRL LTDIISDGVP CSQNPTEAIE AWINFNKEER EAFAESLRTS LKEIGENVHI
YLIGKESSRT HSLAVSLHCA EDDSISVSGQ NSLCHQITAA CKHGGDLYVV GGSIPRRMWK
CNNATVDWEW CAPLPRDRLQ HTLVSVPGKD AIYSLGGKTL QDTLSNAVIY YRVGDNVWTE
TTQLEVAVSG AAGANLNGII YLLGGEENDL DFFTKPSRLI QCFDTETDKC HVKPYVLPFA
GRMHAAVHKD LVFIVAEGDS LVCYNPLLDS FTRLCLPEAW SSAPSLWKIA SCNGSIYVFR
DRYKKGDANT YKLDPATSAV TVTRGIKVLL TNLQFVLA
