BTBD3_HUMAN
ID BTBD3_HUMAN Reviewed; 522 AA.
AC Q9Y2F9; D3DW19; Q5JY73;
DT 23-JAN-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 164.
DE RecName: Full=BTB/POZ domain-containing protein 3;
GN Name=BTBD3; Synonyms=KIAA0952;
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=10231032; DOI=10.1093/dnares/6.1.63;
RA Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XIII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 6:63-70(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
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 (SEP-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).
CC -!- FUNCTION: Acts as a key regulator of dendritic field orientation during
CC development of sensory cortex. Also directs dendrites toward active
CC axon terminals when ectopically expressed (By similarity).
CC {ECO:0000250}.
CC -!- INTERACTION:
CC Q9Y2F9; Q9Y2F9: BTBD3; NbExp=3; IntAct=EBI-311155, EBI-311155;
CC Q9Y2F9; Q96KE9-2: BTBD6; NbExp=3; IntAct=EBI-311155, EBI-12012762;
CC Q9Y2F9; Q16543: CDC37; NbExp=3; IntAct=EBI-311155, EBI-295634;
CC Q9Y2F9; Q13618: CUL3; NbExp=3; IntAct=EBI-311155, EBI-456129;
CC Q9Y2F9; Q9H8Y8: GORASP2; NbExp=3; IntAct=EBI-311155, EBI-739467;
CC Q9Y2F9; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-311155, EBI-16439278;
CC Q9Y2F9; P78317: RNF4; NbExp=3; IntAct=EBI-311155, EBI-2340927;
CC Q9Y2F9; P63165: SUMO1; NbExp=3; IntAct=EBI-311155, EBI-80140;
CC Q9Y2F9; Q96N21: TEPSIN; NbExp=3; IntAct=EBI-311155, EBI-11139477;
CC Q9Y2F9; Q7KZS0: UBE2I; NbExp=5; IntAct=EBI-311155, EBI-10180829;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250}. Nucleus
CC {ECO:0000250}. Note=Translocates from the cytosol to the nucleus in
CC response to neuronal activity. {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9Y2F9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y2F9-2; Sequence=VSP_041215;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA76796.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AB023169; BAA76796.2; ALT_INIT; mRNA.
DR EMBL; AL035448; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471133; EAX10327.1; -; Genomic_DNA.
DR EMBL; CH471133; EAX10328.1; -; Genomic_DNA.
DR EMBL; BC101527; AAI01528.1; -; mRNA.
DR EMBL; BC109315; AAI09316.1; -; mRNA.
DR EMBL; BC109316; AAI09317.1; -; mRNA.
DR CCDS; CCDS13113.1; -. [Q9Y2F9-1]
DR CCDS; CCDS13114.1; -. [Q9Y2F9-2]
DR RefSeq; NP_001269479.1; NM_001282550.1. [Q9Y2F9-2]
DR RefSeq; NP_001269480.1; NM_001282551.1. [Q9Y2F9-2]
DR RefSeq; NP_055777.1; NM_014962.3. [Q9Y2F9-1]
DR RefSeq; NP_852108.2; NM_181443.3. [Q9Y2F9-2]
DR RefSeq; XP_016883217.1; XM_017027728.1. [Q9Y2F9-2]
DR RefSeq; XP_016883218.1; XM_017027729.1.
DR AlphaFoldDB; Q9Y2F9; -.
DR SMR; Q9Y2F9; -.
DR BioGRID; 116567; 21.
DR IntAct; Q9Y2F9; 18.
DR STRING; 9606.ENSP00000384545; -.
DR iPTMnet; Q9Y2F9; -.
DR PhosphoSitePlus; Q9Y2F9; -.
DR BioMuta; BTBD3; -.
DR DMDM; 20137580; -.
DR EPD; Q9Y2F9; -.
DR jPOST; Q9Y2F9; -.
DR MassIVE; Q9Y2F9; -.
DR MaxQB; Q9Y2F9; -.
DR PaxDb; Q9Y2F9; -.
DR PeptideAtlas; Q9Y2F9; -.
DR PRIDE; Q9Y2F9; -.
DR ProteomicsDB; 85754; -. [Q9Y2F9-1]
DR ProteomicsDB; 85755; -. [Q9Y2F9-2]
DR Antibodypedia; 8935; 139 antibodies from 22 providers.
DR DNASU; 22903; -.
DR Ensembl; ENST00000254977.7; ENSP00000254977.3; ENSG00000132640.15. [Q9Y2F9-2]
DR Ensembl; ENST00000378226.7; ENSP00000367471.2; ENSG00000132640.15. [Q9Y2F9-1]
DR Ensembl; ENST00000399006.6; ENSP00000381971.2; ENSG00000132640.15. [Q9Y2F9-2]
DR Ensembl; ENST00000405977.5; ENSP00000384545.1; ENSG00000132640.15. [Q9Y2F9-1]
DR Ensembl; ENST00000618296.4; ENSP00000477589.1; ENSG00000132640.15. [Q9Y2F9-2]
DR Ensembl; ENST00000618918.4; ENSP00000483520.1; ENSG00000132640.15. [Q9Y2F9-2]
DR GeneID; 22903; -.
DR KEGG; hsa:22903; -.
DR MANE-Select; ENST00000378226.7; ENSP00000367471.2; NM_014962.4; NP_055777.1.
DR UCSC; uc002wny.5; human. [Q9Y2F9-1]
DR CTD; 22903; -.
DR DisGeNET; 22903; -.
DR GeneCards; BTBD3; -.
DR HGNC; HGNC:15854; BTBD3.
DR HPA; ENSG00000132640; Tissue enhanced (brain).
DR MIM; 615566; gene.
DR neXtProt; NX_Q9Y2F9; -.
DR OpenTargets; ENSG00000132640; -.
DR PharmGKB; PA25440; -.
DR VEuPathDB; HostDB:ENSG00000132640; -.
DR eggNOG; KOG2075; Eukaryota.
DR GeneTree; ENSGT00940000156461; -.
DR HOGENOM; CLU_015899_2_1_1; -.
DR InParanoid; Q9Y2F9; -.
DR OMA; ELQFACQ; -.
DR PhylomeDB; Q9Y2F9; -.
DR TreeFam; TF106482; -.
DR PathwayCommons; Q9Y2F9; -.
DR SignaLink; Q9Y2F9; -.
DR BioGRID-ORCS; 22903; 18 hits in 1116 CRISPR screens.
DR ChiTaRS; BTBD3; human.
DR GenomeRNAi; 22903; -.
DR Pharos; Q9Y2F9; Tbio.
DR PRO; PR:Q9Y2F9; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q9Y2F9; protein.
DR Bgee; ENSG00000132640; Expressed in cerebellar vermis and 206 other tissues.
DR ExpressionAtlas; Q9Y2F9; baseline and differential.
DR Genevisible; Q9Y2F9; HS.
DR GO; GO:0005829; C:cytosol; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0021987; P:cerebral cortex development; ISS:UniProtKB.
DR GO; GO:0048813; P:dendrite morphogenesis; ISS:UniProtKB.
DR GO; GO:0022008; P:neurogenesis; IBA:GO_Central.
DR Gene3D; 2.60.120.820; -; 1.
DR Gene3D; 3.30.710.10; -; 1.
DR InterPro; IPR011705; BACK.
DR InterPro; IPR000210; BTB/POZ_dom.
DR InterPro; IPR012983; PHR.
DR InterPro; IPR038648; PHR_sf.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR Pfam; PF07707; BACK; 1.
DR Pfam; PF00651; BTB; 1.
DR Pfam; PF08005; PHR; 1.
DR SMART; SM00875; BACK; 1.
DR SMART; SM00225; BTB; 1.
DR SUPFAM; SSF54695; SSF54695; 1.
DR PROSITE; PS50097; BTB; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Neurogenesis; Nucleus; Reference proteome.
FT CHAIN 1..522
FT /note="BTB/POZ domain-containing protein 3"
FT /id="PRO_0000186211"
FT DOMAIN 120..190
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT DOMAIN 235..300
FT /note="BACK"
FT REGION 25..44
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..61
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_041215"
SQ SEQUENCE 522 AA; 58420 MW; A5E1359C96FF8919 CRC64;
MVDDKEKNMK CLTFFLMLPE TVKNRSKKSS KKANTSSSSS NSSKLPPVCY EIITLKTKKK
KMAADIFPRK KPANSSSTSV QQYHQQNLSN NNLIPAPNWQ GLYPTIRERN AMMFNNDLMA
DVHFVVGPPG GTQRLPGHKY VLAVGSSVFH AMFYGELAED KDEIRIPDVE PAAFLAMLKY
IYCDEIDLAA DTVLATLYAA KKYIVPHLAR ACVNFLETSL SAKNACVLLS QSCLFEEPDL
TQRCWEVIDA QAELALKSEG FCDIDFQTLE SILRRETLNA KEIVVFEAAL NWAEVECQRQ
DLALSIENKR KVLGKALYLI RIPTMALDDF ANGAAQSGVL TLNETNDIFL WYTAAKKPEL
QFVSKARKGL VPQRCHRFQS CAYRSNQWRY RGRCDSIQFA VDKRVFIAGF GLYGSSCGSA
EYSAKIELKR QGVVLGQNLS KYFSDGSSNT FPVWFEYPVQ IEPDTFYTAS VILDGNELSY
FGQEGMTEVQ CGKVTVQFQC SSDSTNGTGV QGGQIPELIF YA
