BTBDB_HUMAN
ID BTBDB_HUMAN Reviewed; 1104 AA.
AC A6QL63; A4FU41; B3KXG3; C9J019; C9JK80; E9PHS4; Q3ZTQ4; Q52M89; Q6ZV99;
AC Q8N245;
DT 08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 24-NOV-2009, sequence version 3.
DT 03-AUG-2022, entry version 120.
DE RecName: Full=Ankyrin repeat and BTB/POZ domain-containing protein BTBD11;
DE AltName: Full=BTB/POZ domain-containing protein 11;
GN Name=BTBD11;
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] (ISOFORMS 4 AND 5), AND NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 338-1104 (ISOFORM 3).
RC TISSUE=Hippocampus, and Tongue;
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=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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 [5]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 550-1104 (ISOFORM 1).
RA Xu J., Xie Y., Mao Y.;
RT "Characterization of a novel gene containing ANK repeats and BTB domain.";
RL Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=A6QL63-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A6QL63-2; Sequence=VSP_032802;
CC Name=3;
CC IsoId=A6QL63-3; Sequence=VSP_032803;
CC Name=4;
CC IsoId=A6QL63-4; Sequence=VSP_032801;
CC Name=5;
CC IsoId=A6QL63-5; Sequence=VSP_045802, VSP_045803;
CC -!- INDUCTION: By all-trans retinoic acid (ATRA).
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI01562.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAI01564.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAI46825.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
CC Sequence=AAR21078.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAC85963.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=EAW97799.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AK091276; BAC03626.1; -; mRNA.
DR EMBL; AK124835; BAC85963.1; ALT_INIT; mRNA.
DR EMBL; AK127295; BAG54475.1; -; mRNA.
DR EMBL; AC007540; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC007649; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC009774; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471054; EAW97799.1; ALT_SEQ; Genomic_DNA.
DR EMBL; CH471054; EAW97800.1; -; Genomic_DNA.
DR EMBL; BC093627; AAH93627.1; -; mRNA.
DR EMBL; BC093629; AAH93629.1; -; mRNA.
DR EMBL; BC101561; AAI01562.1; ALT_INIT; mRNA.
DR EMBL; BC101563; AAI01564.1; ALT_INIT; mRNA.
DR EMBL; BC146824; AAI46825.1; ALT_SEQ; mRNA.
DR EMBL; AY373588; AAR21078.1; ALT_INIT; mRNA.
DR CCDS; CCDS31893.1; -. [A6QL63-1]
DR CCDS; CCDS41827.1; -. [A6QL63-5]
DR CCDS; CCDS86332.1; -. [A6QL63-2]
DR RefSeq; NP_001017523.1; NM_001017523.1. [A6QL63-5]
DR RefSeq; NP_001018082.1; NM_001018072.1. [A6QL63-1]
DR RefSeq; NP_001334872.1; NM_001347943.1. [A6QL63-2]
DR AlphaFoldDB; A6QL63; -.
DR SMR; A6QL63; -.
DR BioGRID; 125738; 5.
DR IntAct; A6QL63; 3.
DR STRING; 9606.ENSP00000280758; -.
DR GlyGen; A6QL63; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; A6QL63; -.
DR PhosphoSitePlus; A6QL63; -.
DR BioMuta; BTBD11; -.
DR EPD; A6QL63; -.
DR jPOST; A6QL63; -.
DR MassIVE; A6QL63; -.
DR MaxQB; A6QL63; -.
DR PaxDb; A6QL63; -.
DR PeptideAtlas; A6QL63; -.
DR PRIDE; A6QL63; -.
DR ProteomicsDB; 1742; -. [A6QL63-1]
DR ProteomicsDB; 1743; -. [A6QL63-2]
DR ProteomicsDB; 1744; -. [A6QL63-3]
DR ProteomicsDB; 1745; -. [A6QL63-4]
DR ProteomicsDB; 20594; -.
DR Antibodypedia; 76946; 6 antibodies from 6 providers.
DR DNASU; 121551; -.
DR Ensembl; ENST00000280758.10; ENSP00000280758.5; ENSG00000151136.15. [A6QL63-1]
DR Ensembl; ENST00000357167.8; ENSP00000349690.4; ENSG00000151136.15. [A6QL63-5]
DR Ensembl; ENST00000420571.6; ENSP00000413889.2; ENSG00000151136.15. [A6QL63-2]
DR Ensembl; ENST00000490090.6; ENSP00000447319.1; ENSG00000151136.15. [A6QL63-3]
DR Ensembl; ENST00000494235.2; ENSP00000448322.1; ENSG00000151136.15. [A6QL63-4]
DR GeneID; 121551; -.
DR KEGG; hsa:121551; -.
DR MANE-Select; ENST00000280758.10; ENSP00000280758.5; NM_001018072.2; NP_001018082.1.
DR UCSC; uc001tmj.4; human. [A6QL63-1]
DR CTD; 121551; -.
DR DisGeNET; 121551; -.
DR GeneCards; BTBD11; -.
DR HGNC; HGNC:23844; BTBD11.
DR HPA; ENSG00000151136; Tissue enhanced (brain, parathyroid gland).
DR neXtProt; NX_A6QL63; -.
DR OpenTargets; ENSG00000151136; -.
DR PharmGKB; PA134975180; -.
DR VEuPathDB; HostDB:ENSG00000151136; -.
DR eggNOG; ENOG502QSQY; Eukaryota.
DR GeneTree; ENSGT00940000156419; -.
DR HOGENOM; CLU_001918_0_0_1; -.
DR InParanoid; A6QL63; -.
DR OMA; GWPPLAD; -.
DR PhylomeDB; A6QL63; -.
DR TreeFam; TF106437; -.
DR PathwayCommons; A6QL63; -.
DR SignaLink; A6QL63; -.
DR BioGRID-ORCS; 121551; 12 hits in 1107 CRISPR screens.
DR ChiTaRS; BTBD11; human.
DR GenomeRNAi; 121551; -.
DR Pharos; A6QL63; Tdark.
DR PRO; PR:A6QL63; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; A6QL63; protein.
DR Bgee; ENSG00000151136; Expressed in lower esophagus mucosa and 146 other tissues.
DR ExpressionAtlas; A6QL63; baseline and differential.
DR Genevisible; A6QL63; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0046982; F:protein heterodimerization activity; IEA:InterPro.
DR GO; GO:0060395; P:SMAD protein signal transduction; IBA:GO_Central.
DR Gene3D; 1.10.20.10; -; 1.
DR Gene3D; 1.25.40.20; -; 1.
DR Gene3D; 3.30.710.10; -; 1.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR InterPro; IPR000210; BTB/POZ_dom.
DR InterPro; IPR009072; Histone-fold.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR Pfam; PF00023; Ank; 1.
DR Pfam; PF12796; Ank_2; 1.
DR Pfam; PF00651; BTB; 1.
DR SMART; SM00248; ANK; 4.
DR SMART; SM00225; BTB; 1.
DR SUPFAM; SSF47113; SSF47113; 2.
DR SUPFAM; SSF48403; SSF48403; 1.
DR SUPFAM; SSF54695; SSF54695; 1.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 3.
DR PROSITE; PS50097; BTB; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; ANK repeat; Membrane; Reference proteome; Repeat;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..1104
FT /note="Ankyrin repeat and BTB/POZ domain-containing protein
FT BTBD11"
FT /id="PRO_0000328827"
FT TRANSMEM 168..188
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REPEAT 603..632
FT /note="ANK 1"
FT REPEAT 649..678
FT /note="ANK 2"
FT REPEAT 687..716
FT /note="ANK 3"
FT REPEAT 730..759
FT /note="ANK 4"
FT REPEAT 825..854
FT /note="ANK 5"
FT DOMAIN 923..989
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT REGION 260..301
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..921
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_032801"
FT VAR_SEQ 1..33
FT /note="MARRGKKPVVRTLEDLTLDSGYGGAADSVRSSN -> MRKLRPKDSREPAPG
FT SPVRSGCLQRLSHYSGIQ (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_045802"
FT VAR_SEQ 34..496
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_045803"
FT VAR_SEQ 699..817
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_032802"
FT VAR_SEQ 998..1104
FT /note="LLSAAKFFQLEALQRHCEIICAKSINTDNCVDIYNHAKFLGVTELSAYCEGY
FT FLKNMMVLIENEAFKQLLYDKNGEGTGQDVLQDLQRTLAIRIQSIHLSSSKGSVV ->
FT VRDPLWCWLS (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_032803"
FT VARIANT 448
FT /note="G -> S (in dbSNP:rs1558781)"
FT /id="VAR_055560"
FT VARIANT 1002
FT /note="A -> D (in dbSNP:rs11610050)"
FT /id="VAR_042534"
FT VARIANT 1076
FT /note="G -> S (in dbSNP:rs12303478)"
FT /id="VAR_042535"
FT CONFLICT 224
FT /note="R -> H (in Ref. 4; AAI46825)"
FT /evidence="ECO:0000305"
FT CONFLICT 361
FT /note="I -> V (in Ref. 1; BAC85963)"
FT /evidence="ECO:0000305"
FT CONFLICT 653
FT /note="A -> V (in Ref. 1; BAG54475)"
FT /evidence="ECO:0000305"
FT CONFLICT 1043
FT /note="S -> P (in Ref. 1; BAC03626)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1104 AA; 120884 MW; 118D5C668CB78A3E CRC64;
MARRGKKPVV RTLEDLTLDS GYGGAADSVR SSNLSLCCSD SHPASPYGGS CWPPLADSMH
SRHNSFDTVN TALVEDSEGL DCAGQHCSRL LPDLDEVPWT LQELEALLLR SRDPRAGPAV
PGGLPKDALA KLSTLVSRAL VRIAKEAQRL SLRFAKCTKY EIQSAMEIVL SWGLAAHCTA
AALAALSLYN MSSAGGDRLG RGKSARCGLT FSVGRVYRWM VDSRVALRIH EHAAIYLTAC
MESLFRDIYS RVVASGVPRS CSGPGSGSGS GPGPSSGPGA APAADKEREA PGGGAASGGA
CSAASSASGG SSCCAPPAAA AAAVPPAAAA NHHHHHHHAL HEAPKFTVET LEHTVNNDSE
IWGLLQPYQH LICGKNASGV LCLPDSLNLH RDPQRSNKPG ELPMFSQSEL RTIEQSLLAT
RVGSIAELSD LVSRAMHHLQ PLNAKHHGNG TPLHHKQGAL YWEPEALYTL CYFMHCPQME
WENPNVEPSK VNLQVERPFL VLPPLMEWIR VAVAHAGHRR SFSMDSDDVR QAARLLLPGV
DCEPRQLRAD DCFCASRKLD AVAIEAKFKQ DLGFRMLNCG RTDLVKQAVS LLGPDGINTM
SEQGMTPLMY ACVRGDEAMV QMLLDAGADL NVEVVSTPHK YPSVHPETRH WTALTFAVLH
GHIPVVQLLL DAGAKVEGSV EHGEENYSET PLQLAAAVGN FELVSLLLER GADPLIGTMY
RNGISTTPQG DMNSFSQAAA HGHRNVFRKL LAQPEKEKSD ILSLEEILAE GTDLAETAPP
PLCASRNSKA KLRALREAMY HSAEHGYVDV TIDIRSIGVP WTLHTWLESL RIAFQQHRRP
LIQCLLKEFK TIQEEEYTEE LVTQGLPLMF EILKASKNEV ISQQLCVIFT HCYGPYPIPK
LTEIKRKQTS RLDPHFLNNK EMSDVTFLVE GRPFYAHKVL LFTASPRFKA LLSSKPTNDG
TCIEIGYVKY SIFQLVMQYL YYGGPESLLI KNNEIMELLS AAKFFQLEAL QRHCEIICAK
SINTDNCVDI YNHAKFLGVT ELSAYCEGYF LKNMMVLIEN EAFKQLLYDK NGEGTGQDVL
QDLQRTLAIR IQSIHLSSSK GSVV
