ID   KBTB8_HUMAN             Reviewed;         601 AA.
AC   Q8NFY9; Q96JI5;
DT   20-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT   20-FEB-2007, sequence version 2.
DT   16-APR-2014, entry version 81.
DE   RecName: Full=Kelch repeat and BTB domain-containing protein 8;
DE   AltName: Full=T-cell activation kelch repeat protein;
DE            Short=TA-KRP;
GN   Name=KBTBD8; Synonyms=KIAA1842, TAKRP;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Fetal brain;
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.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   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.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., 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.,
RA   Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R.,
RA   Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V.,
RA   Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.,
RA   Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B.,
RA   Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S.,
RA   Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q.,
RA   Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z.,
RA   Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C.,
RA   Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G.,
RA   Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B.,
RA   Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R.,
RA   Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J.,
RA   Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A.,
RA   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.,
RA   Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H.,
RA   Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G.,
RA   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 [MRNA] OF 6-601.
RC   TISSUE=T-cell;
RA   Mao M., Biery M.C., Kobayashi S.V., Schimmack G.A., Ward T.R.,
RA   Schelter J.M., Burchard J., He Y.D., Dai H., Leonardson A., Coffey E.,
RA   Stoughton R., Linsley P.S.;
RT   "T lymphocyte activation gene discovery using ink-jet microarrays.";
RL   Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 18-601.
RC   TISSUE=Lung;
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
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 76-575.
RC   TISSUE=Brain;
RX   PubMed=11347906; DOI=10.1093/dnares/8.2.85;
RA   Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.;
RT   "Prediction of the coding sequences of unidentified human genes. XX.
RT   The complete sequences of 100 new cDNA clones from brain which code
RT   for large proteins in vitro.";
RL   DNA Res. 8:85-95(2001).
RN   [6]
RP   SEQUENCE REVISION.
RX   PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA   Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT   "Construction of expression-ready cDNA clones for KIAA genes: manual
RT   curation of 330 KIAA cDNA clones.";
RL   DNA Res. 9:99-106(2002).
RN   [7]
RP   SUBCELLULAR LOCATION.
RX   PubMed=23578279; DOI=10.1186/1747-1028-8-3;
RA   Luhrig S., Kolb S., Mellies N., Nolte J.;
RT   "The novel BTB-kelch protein, KBTBD8, is located in the Golgi
RT   apparatus and translocates to the spindle apparatus during mitosis.";
RL   Cell Div. 8:3-3(2013).
RN   [8]
RP   VARIANTS [LARGE SCALE ANALYSIS] CYS-198 AND LYS-405.
RX   PubMed=16959974; DOI=10.1126/science.1133427;
RA   Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA   Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
RA   Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
RA   Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
RA   Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
RA   Vogelstein B., Kinzler K.W., Velculescu V.E.;
RT   "The consensus coding sequences of human breast and colorectal
RT   cancers.";
RL   Science 314:268-274(2006).
CC   -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, spindle. Golgi
CC       apparatus. Note=Translocates to the spindle apparatus during
CC       mitosis.
CC   -!- SIMILARITY: Contains 1 BACK (BTB/Kelch associated) domain.
CC   -!- SIMILARITY: Contains 1 BTB (POZ) domain.
CC   -!- SIMILARITY: Contains 5 Kelch repeats.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAI17488.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
CC       Sequence=AAM43839.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
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DR   EMBL; AK096640; -; NOT_ANNOTATED_CDS; mRNA.
DR   EMBL; AC020655; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AF385438; AAM43839.1; ALT_INIT; mRNA.
DR   EMBL; BC117487; AAI17488.1; ALT_INIT; mRNA.
DR   EMBL; AB058745; BAB47471.1; -; mRNA.
DR   RefSeq; NP_115894.2; NM_032505.2.
DR   UniGene; Hs.116665; -.
DR   ProteinModelPortal; Q8NFY9; -.
DR   SMR; Q8NFY9; 23-267, 334-579.
DR   BioGrid; 124128; 2.
DR   STRING; 9606.ENSP00000295568; -.
DR   PhosphoSite; Q8NFY9; -.
DR   DMDM; 126215728; -.
DR   PaxDb; Q8NFY9; -.
DR   PRIDE; Q8NFY9; -.
DR   Ensembl; ENST00000295568; ENSP00000295568; ENSG00000163376.
DR   Ensembl; ENST00000417314; ENSP00000401878; ENSG00000163376.
DR   GeneID; 84541; -.
DR   KEGG; hsa:84541; -.
DR   UCSC; uc003dmy.3; human.
DR   CTD; 84541; -.
DR   GeneCards; GC03P067132; -.
DR   HGNC; HGNC:30691; KBTBD8.
DR   HPA; HPA041285; -.
DR   neXtProt; NX_Q8NFY9; -.
DR   PharmGKB; PA142671641; -.
DR   eggNOG; NOG328379; -.
DR   HOGENOM; HOG000113200; -.
DR   HOVERGEN; HBG100857; -.
DR   InParanoid; Q8NFY9; -.
DR   KO; K10475; -.
DR   OMA; IFAKCIR; -.
DR   OrthoDB; EOG75TMBB; -.
DR   PhylomeDB; Q8NFY9; -.
DR   TreeFam; TF332672; -.
DR   GenomeRNAi; 84541; -.
DR   NextBio; 74398; -.
DR   PRO; PR:Q8NFY9; -.
DR   ArrayExpress; Q8NFY9; -.
DR   Bgee; Q8NFY9; -.
DR   CleanEx; HS_KBTBD8; -.
DR   Genevestigator; Q8NFY9; -.
DR   GO; GO:0005794; C:Golgi apparatus; IEA:UniProtKB-SubCell.
DR   GO; GO:0005819; C:spindle; IEA:UniProtKB-SubCell.
DR   Gene3D; 2.120.10.80; -; 1.
DR   Gene3D; 3.30.710.10; -; 1.
DR   InterPro; IPR011705; BACK.
DR   InterPro; IPR000210; BTB/POZ-like.
DR   InterPro; IPR011333; BTB/POZ_fold.
DR   InterPro; IPR013069; BTB_POZ.
DR   InterPro; IPR028764; KBTBD8.
DR   InterPro; IPR017096; Kelch-like_gigaxonin-typ.
DR   InterPro; IPR015915; Kelch-typ_b-propeller.
DR   InterPro; IPR006652; Kelch_1.
DR   PANTHER; PTHR24412:SF24; PTHR24412:SF24; 1.
DR   Pfam; PF07707; BACK; 1.
DR   Pfam; PF00651; BTB; 1.
DR   Pfam; PF01344; Kelch_1; 3.
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; SSF54695; SSF54695; 1.
DR   PROSITE; PS50097; BTB; 1.
PE   2: Evidence at transcript level;
KW   Complete proteome; Cytoplasm; Cytoskeleton; Golgi apparatus;
KW   Kelch repeat; Polymorphism; Reference proteome; Repeat.
FT   CHAIN         1    601       Kelch repeat and BTB domain-containing
FT                                protein 8.
FT                                /FTId=PRO_0000278220.
FT   DOMAIN       49    117       BTB.
FT   DOMAIN      152    254       BACK.
FT   REPEAT      336    390       Kelch 1.
FT   REPEAT      391    441       Kelch 2.
FT   REPEAT      443    481       Kelch 3.
FT   REPEAT      483    532       Kelch 4.
FT   REPEAT      542    588       Kelch 5.
FT   VARIANT     198    198       S -> C (in a breast cancer sample;
FT                                somatic mutation).
FT                                /FTId=VAR_036082.
FT   VARIANT     405    405       R -> K (in a breast cancer sample;
FT                                somatic mutation).
FT                                /FTId=VAR_036083.
FT   VARIANT     420    420       C -> R (in dbSNP:rs13096789).
FT                                /FTId=VAR_030694.
SQ   SEQUENCE   601 AA;  68823 MW;  E5DC921FD9C10BBA CRC64;
     MAASADLSKS SPTPNGIPSS DPASDAMDPF HACSILKQLK TMYDEGQLTD IVVEVDHGKT
     FSCHRNVLAA ISPYFRSMFT SGLTESTQKE VRIVGVEAES MDLVLNYAYT SRVILTEANV
     QALFTAASIF QIPSIQDQCA KYMISHLDPQ NSIGVFIFAD HYGHQELGDR SKEYIRKKFL
     CVTKEQEFLQ LTKDQLISIL DSDDLNVDRE EHVYESIIRW FEHEQNEREV HLPEIFAKCI
     RFPLMEDTFI EKIPPQFAQA IAKSCVEKGP SNTNGCTQRL GMTASEMIIC FDAAHKHSGK
     KQTVPCLDIV TGRVFKLCKP PNDLREVGIL VSPDNDIYIA GGYRPSSSEV SIDHKAENDF
     WMYDHSTNRW LSKPSLLRAR IGCKLVYCCG KMYAIGGRVY EGDGRNSLKS VECYDSRENC
     WTTVCAMPVA MEFHNAVEYK EKIYVLQGEF FLFYEPQKDY WGFLTPMTVP RIQGLAAVYK
     DSIYYIAGTC GNHQRMFTVE AYDIELNKWT RKKDFPCDQS INPYLKLVLF QNKLHLFVRA
     TQVTVEEHVF RTSRKNSLYQ YDDIADQWMK VYETPDRLWD LGRHFECAVA KLYPQCLQKV
     L
//