BTBD7_HUMAN
ID BTBD7_HUMAN Reviewed; 1132 AA.
AC Q9P203; A8K5V7; Q69Z05; Q7Z308; Q86TS0; Q9HAA4; Q9NVM0;
DT 07-JUN-2005, integrated into UniProtKB/Swiss-Prot.
DT 07-JUN-2005, sequence version 3.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=BTB/POZ domain-containing protein 7;
GN Name=BTBD7; Synonyms=KIAA1525;
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).
RC TISSUE=Brain;
RX PubMed=10819331; DOI=10.1093/dnares/7.2.143;
RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:143-150(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 5), AND NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 135-536 (ISOFORM 1).
RC TISSUE=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., 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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
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).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 457-536 (ISOFORM 1).
RC TISSUE=Amygdala;
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-938 (ISOFORM 5).
RC TISSUE=Neuroblastoma;
RA Li W.B., Gruber C., Jessee J., Polayes D.;
RT "Full-length cDNA libraries and normalization.";
RL Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP MYRISTOYLATION AT GLY-2.
RX PubMed=20213681; DOI=10.1002/pmic.200900783;
RA Suzuki T., Moriya K., Nagatoshi K., Ota Y., Ezure T., Ando E.,
RA Tsunasawa S., Utsumi T.;
RT "Strategy for comprehensive identification of human N-myristoylated
RT proteins using an insect cell-free protein synthesis system.";
RL Proteomics 10:1780-1793(2010).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-722 AND SER-1012, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- FUNCTION: Acts as a mediator of epithelial dynamics and organ branching
CC by promoting cleft progression. Induced following accumulation of
CC fibronectin in forming clefts, leading to local expression of the cell-
CC scattering SNAIL2 and suppression of E-cadherin levels, thereby
CC altering cell morphology and reducing cell-cell adhesion. This
CC stimulates cell separation at the base of forming clefts by local,
CC dynamic intercellular gap formation and promotes cleft progression (By
CC similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9P203-1; Sequence=Displayed;
CC Name=3;
CC IsoId=Q9P203-3; Sequence=VSP_041483, VSP_041487;
CC Name=5;
CC IsoId=Q9P203-5; Sequence=VSP_041481, VSP_041482;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA96049.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB13946.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB13946.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
CC Sequence=CAH10736.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
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DR EMBL; AB040958; BAA96049.2; ALT_INIT; mRNA.
DR EMBL; AK001510; BAA91730.1; -; mRNA.
DR EMBL; AK021953; BAB13946.1; ALT_SEQ; mRNA.
DR EMBL; AK291422; BAF84111.1; -; mRNA.
DR EMBL; AL122023; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL132838; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC047071; AAH47071.1; -; mRNA.
DR EMBL; AL049394; CAH10736.1; ALT_SEQ; mRNA.
DR EMBL; BX248762; CAD66569.1; -; mRNA.
DR CCDS; CCDS32146.1; -. [Q9P203-1]
DR CCDS; CCDS32147.1; -. [Q9P203-3]
DR CCDS; CCDS73684.1; -. [Q9P203-5]
DR PIR; JC7757; JC7757.
DR RefSeq; NP_001002860.2; NM_001002860.3. [Q9P203-1]
DR RefSeq; NP_001276062.1; NM_001289133.1. [Q9P203-5]
DR RefSeq; NP_060637.1; NM_018167.4. [Q9P203-3]
DR RefSeq; XP_011535241.1; XM_011536939.2. [Q9P203-1]
DR AlphaFoldDB; Q9P203; -.
DR BioGRID; 120847; 10.
DR ELM; Q9P203; -.
DR IntAct; Q9P203; 5.
DR STRING; 9606.ENSP00000335615; -.
DR iPTMnet; Q9P203; -.
DR PhosphoSitePlus; Q9P203; -.
DR BioMuta; BTBD7; -.
DR DMDM; 67460591; -.
DR EPD; Q9P203; -.
DR jPOST; Q9P203; -.
DR MassIVE; Q9P203; -.
DR MaxQB; Q9P203; -.
DR PaxDb; Q9P203; -.
DR PeptideAtlas; Q9P203; -.
DR PRIDE; Q9P203; -.
DR ProteomicsDB; 83696; -. [Q9P203-1]
DR ProteomicsDB; 83697; -. [Q9P203-3]
DR ProteomicsDB; 83698; -. [Q9P203-5]
DR Antibodypedia; 55719; 112 antibodies from 26 providers.
DR DNASU; 55727; -.
DR Ensembl; ENST00000298896.7; ENSP00000298896.3; ENSG00000011114.15. [Q9P203-3]
DR Ensembl; ENST00000334746.10; ENSP00000335615.5; ENSG00000011114.15. [Q9P203-1]
DR Ensembl; ENST00000554565.5; ENSP00000451010.1; ENSG00000011114.15. [Q9P203-5]
DR Ensembl; ENST00000613511.3; ENSP00000481899.1; ENSG00000277222.4. [Q9P203-3]
DR Ensembl; ENST00000613725.4; ENSP00000479193.1; ENSG00000277222.4. [Q9P203-1]
DR Ensembl; ENST00000627779.2; ENSP00000486274.1; ENSG00000277222.4. [Q9P203-5]
DR GeneID; 55727; -.
DR KEGG; hsa:55727; -.
DR MANE-Select; ENST00000334746.10; ENSP00000335615.5; NM_001002860.4; NP_001002860.2.
DR UCSC; uc001ybo.5; human. [Q9P203-1]
DR CTD; 55727; -.
DR DisGeNET; 55727; -.
DR GeneCards; BTBD7; -.
DR HGNC; HGNC:18269; BTBD7.
DR HPA; ENSG00000011114; Low tissue specificity.
DR MIM; 610386; gene.
DR neXtProt; NX_Q9P203; -.
DR OpenTargets; ENSG00000011114; -.
DR PharmGKB; PA134938971; -.
DR VEuPathDB; HostDB:ENSG00000011114; -.
DR eggNOG; KOG2838; Eukaryota.
DR GeneTree; ENSGT00390000014092; -.
DR HOGENOM; CLU_007289_0_0_1; -.
DR InParanoid; Q9P203; -.
DR OMA; QPSWQAD; -.
DR OrthoDB; 694006at2759; -.
DR PhylomeDB; Q9P203; -.
DR TreeFam; TF316112; -.
DR PathwayCommons; Q9P203; -.
DR SignaLink; Q9P203; -.
DR BioGRID-ORCS; 55727; 86 hits in 1111 CRISPR screens.
DR ChiTaRS; BTBD7; human.
DR GenomeRNAi; 55727; -.
DR Pharos; Q9P203; Tbio.
DR PRO; PR:Q9P203; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q9P203; protein.
DR Bgee; ENSG00000011114; Expressed in corpus callosum and 108 other tissues.
DR ExpressionAtlas; Q9P203; baseline and differential.
DR Genevisible; Q9P203; HS.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0061138; P:morphogenesis of a branching epithelium; IEA:InterPro.
DR GO; GO:0060693; P:regulation of branching involved in salivary gland morphogenesis; IBA:GO_Central.
DR Gene3D; 3.30.710.10; -; 2.
DR InterPro; IPR011705; BACK.
DR InterPro; IPR000210; BTB/POZ_dom.
DR InterPro; IPR042345; Btbd7.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR PANTHER; PTHR16064; PTHR16064; 1.
DR Pfam; PF07707; BACK; 1.
DR Pfam; PF00651; BTB; 2.
DR SMART; SM00875; BACK; 1.
DR SMART; SM00225; BTB; 2.
DR SUPFAM; SSF54695; SSF54695; 2.
DR PROSITE; PS50097; BTB; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Developmental protein; Lipoprotein; Myristate;
KW Nucleus; Phosphoprotein; Reference proteome; Repeat.
FT INIT_MET 1
FT /note="Removed"
FT CHAIN 2..1132
FT /note="BTB/POZ domain-containing protein 7"
FT /id="PRO_0000186215"
FT DOMAIN 142..211
FT /note="BTB 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT DOMAIN 247..341
FT /note="BTB 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT DOMAIN 413..479
FT /note="BACK"
FT REGION 1..24
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 897..1019
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1035..1132
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 927..941
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 954..968
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 983..997
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1000..1019
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1064..1081
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1102..1124
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 722
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1012
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT LIPID 2
FT /note="N-myristoyl glycine"
FT /evidence="ECO:0000269|PubMed:20213681"
FT VAR_SEQ 1..351
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039, ECO:0000303|Ref.6"
FT /id="VSP_041481"
FT VAR_SEQ 352..387
FT /note="SEVQALVAGKPNMTRAEEAMELYHIALFLEFNMLAQ -> MAGGAGAGADGG
FT AGGGGGGGDGSGPSGSSSGGRSLR (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039, ECO:0000303|Ref.6"
FT /id="VSP_041482"
FT VAR_SEQ 388..410
FT /note="GCEDIIAESISLDTLIAILKWSS -> EETTVIRPACAAELSNSCLLPQS
FT (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_041483"
FT VAR_SEQ 411..1132
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_041487"
FT CONFLICT 313
FT /note="I -> V (in Ref. 2; BAB13946)"
FT /evidence="ECO:0000305"
FT CONFLICT 408
FT /note="W -> R (in Ref. 2; BAB13946)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1132 AA; 126368 MW; 5C8AA7A8834AD588 CRC64;
MGANASNYPH SCSPRVGGNS QAQQTFIGTS SYSQQGYGCE SKLYSLDHGH EKPQDKKKRT
SGLATLKKKF IKRRKSNRSA DHAKQMRELL SGWDVRDVNA LVEEYEGTSA LKELSLQASL
ARPEARTLQK DMADLYEYKY CTDVDLIFQE TCFPVHRAIL AARCPFFKTL LSSSPEYGAE
IIMDINTAGI DMPMFSALLH YLYTGEFGME DSRFQNVDIL VQLSEEFGTP NSLDVDMRGL
FDYMCYYDVV LSFSSDSELV EAFGGNQNCL DEELKAHKAV ISARSPFFRN LLQRRIRTGE
EITDRTLRTP TRIILDESII PKKYATVILH CMYTDVVDLS VLHCSPSVGS LSEVQALVAG
KPNMTRAEEA MELYHIALFL EFNMLAQGCE DIIAESISLD TLIAILKWSS HPYGSKWVHR
QALHFLCEEF SQVMTSDVFY ELSKDHLLTA IQSDYLQASE QDILKYLIKW GEHQLMKRIA
DREPNLLSGT AHSVNKRGVK RRDLDMEELR EILSSLLPFV RIEHILPINS EVLSDAMKRG
LISTPPSDML PTTEGGKSNA WLRQKNAGIY VRPRLFSPYV EEAKSVLDEM MVEQTDLVRL
RMVRMSNVPD TLYMVNNAVP QCCHMISHQQ ISSNQSSPPS VVANEIPVPR LLIMKDMVRR
LQELRHTEQV QRAYALNCGE GATVSYEIQI RVLREFGLAD AAAELLQNPH KFFPDERFGD
ESPLLTMRQP GRCRVNSTPP AETMFTDLDS FVAFHPPLPP PPPPYHPPAT PIHNQLKAGW
KQRPPSQHPS RSFSYPCNHS LFHSRTAPKA GPPPVYLPSV KAAPPDCTST AGLGRQTVAA
AAATTTSTAT AAAAAASEKQ VRTQPVLNDL MPDIAVGVST LSLKDRRLPE LAVDTELSQS
VSEAGPGPPQ HLSCIPQRHT HTSRKKHTLE QKTDTRENPQ EYPDFYDFSN AACRPSTPAL
SRRTPSPSQG GYFGPDLYSH NKASPSGLKS AYLPGQTSPK KQEEARREYP LSPDGHLHRQ
KNEPIHLDVV EQPPQRSDFP LAAPENASTG PAHVRGRTAV ETDLTFGLTP NRPSLSACSS
EAPEERSGRR LADSESLGHG AQRNTDLERE DSISRGRRSP SKPDFLYKKS AL
