BTBD6_HUMAN
ID BTBD6_HUMAN Reviewed; 538 AA.
AC Q96KE9; Q8IVQ7; Q9BR94;
DT 28-NOV-2003, integrated into UniProtKB/Swiss-Prot.
DT 23-FEB-2022, sequence version 4.
DT 03-AUG-2022, entry version 158.
DE RecName: Full=BTB/POZ domain-containing protein 6 {ECO:0000305};
DE AltName: Full=Lens BTB domain protein;
DE Flags: Precursor;
GN Name=BTBD6 {ECO:0000312|HGNC:HGNC:19897}; Synonyms=BDPL;
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 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis, and Uterus;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 59-538 (ISOFORMS 1 AND 2), AND
RP TISSUE SPECIFICITY.
RC TISSUE=Lens;
RX PubMed=12107413;
RA Wistow G., Bernstein S.L., Wyatt M.K., Behal A., Touchman J.W.,
RA Bouffard G., Smith D., Peterson K.;
RT "Expressed sequence tag analysis of adult human lens for the NEIBank
RT project: over 2000 non-redundant transcripts, novel genes and splice
RT variants.";
RL Mol. Vis. 8:171-184(2002).
RN [4]
RP X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) OF 129-236.
RG Structural genomics consortium (SGC);
RT "Crystal structure of BTB domain from BTBD6.";
RL Submitted (FEB-2008) to the PDB data bank.
CC -!- FUNCTION: Adapter protein for the cul3 E3 ubiquitin-protein ligase
CC complex (By similarity). Involved in late neuronal development and
CC muscle formation (By similarity). {ECO:0000250|UniProtKB:A9JRD8,
CC ECO:0000250|UniProtKB:Q2LE78}.
CC -!- INTERACTION:
CC Q96KE9-2; Q9Y2F9: BTBD3; NbExp=3; IntAct=EBI-12012762, EBI-311155;
CC Q96KE9-2; Q13618: CUL3; NbExp=3; IntAct=EBI-12012762, EBI-456129;
CC Q96KE9-2; Q15653: NFKBIB; NbExp=3; IntAct=EBI-12012762, EBI-352889;
CC Q96KE9-2; Q9Y5B8: NME7; NbExp=5; IntAct=EBI-12012762, EBI-744782;
CC Q96KE9-2; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-12012762, EBI-741158;
CC Q96KE9-2; Q15560: TCEA2; NbExp=3; IntAct=EBI-12012762, EBI-710310;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q2LE78}.
CC Note=Found in punctated bodies in the cytoplasm.
CC {ECO:0000250|UniProtKB:Q2LE78}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q96KE9-3; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96KE9-1; Sequence=VSP_061436;
CC Name=3;
CC IsoId=Q96KE9-2; Sequence=VSP_061435;
CC -!- TISSUE SPECIFICITY: Expressed in lens. {ECO:0000269|PubMed:12107413}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAK39520.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AL512355; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC006414; AAH06414.1; -; mRNA.
DR EMBL; BC042525; AAH42525.1; -; mRNA.
DR EMBL; AF353674; AAK39520.1; ALT_INIT; mRNA.
DR CCDS; CCDS10002.2; -. [Q96KE9-1]
DR RefSeq; NP_150374.2; NM_033271.2. [Q96KE9-1]
DR PDB; 2VKP; X-ray; 1.90 A; A/B=129-236.
DR PDBsum; 2VKP; -.
DR AlphaFoldDB; Q96KE9; -.
DR BioGRID; 124668; 19.
DR IntAct; Q96KE9; 10.
DR MINT; Q96KE9; -.
DR STRING; 9606.ENSP00000376337; -.
DR iPTMnet; Q96KE9; -.
DR PhosphoSitePlus; Q96KE9; -.
DR BioMuta; BTBD6; -.
DR DMDM; 254763426; -.
DR MassIVE; Q96KE9; -.
DR PaxDb; Q96KE9; -.
DR PeptideAtlas; Q96KE9; -.
DR PRIDE; Q96KE9; -.
DR ProteomicsDB; 77063; -. [Q96KE9-1]
DR ProteomicsDB; 77064; -. [Q96KE9-2]
DR Antibodypedia; 15012; 162 antibodies from 29 providers.
DR DNASU; 90135; -.
DR Ensembl; ENST00000392554.8; ENSP00000376337.4; ENSG00000184887.14. [Q96KE9-3]
DR Ensembl; ENST00000463376.6; ENSP00000418150.3; ENSG00000184887.14. [Q96KE9-2]
DR Ensembl; ENST00000536364.6; ENSP00000443091.1; ENSG00000184887.14. [Q96KE9-1]
DR GeneID; 90135; -.
DR KEGG; hsa:90135; -.
DR MANE-Select; ENST00000392554.8; ENSP00000376337.4; NM_001387567.1; NP_001374496.1.
DR UCSC; uc059fzp.1; human. [Q96KE9-3]
DR CTD; 90135; -.
DR GeneCards; BTBD6; -.
DR HGNC; HGNC:19897; BTBD6.
DR HPA; ENSG00000184887; Low tissue specificity.
DR MalaCards; BTBD6; -.
DR neXtProt; NX_Q96KE9; -.
DR OpenTargets; ENSG00000184887; -.
DR PharmGKB; PA128394741; -.
DR VEuPathDB; HostDB:ENSG00000184887; -.
DR eggNOG; KOG2075; Eukaryota.
DR GeneTree; ENSGT00940000155720; -.
DR HOGENOM; CLU_015899_2_1_1; -.
DR InParanoid; Q96KE9; -.
DR OrthoDB; 660286at2759; -.
DR PhylomeDB; Q96KE9; -.
DR TreeFam; TF106482; -.
DR PathwayCommons; Q96KE9; -.
DR Reactome; R-HSA-8951664; Neddylation.
DR Reactome; R-HSA-983168; Antigen processing: Ubiquitination & Proteasome degradation.
DR SignaLink; Q96KE9; -.
DR BioGRID-ORCS; 90135; 21 hits in 1099 CRISPR screens.
DR ChiTaRS; BTBD6; human.
DR EvolutionaryTrace; Q96KE9; -.
DR GenomeRNAi; 90135; -.
DR Pharos; Q96KE9; Tdark.
DR PRO; PR:Q96KE9; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q96KE9; protein.
DR Bgee; ENSG00000184887; Expressed in sperm and 181 other tissues.
DR ExpressionAtlas; Q96KE9; baseline and differential.
DR Genevisible; Q96KE9; HS.
DR GO; GO:0005829; C:cytosol; IBA:GO_Central.
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 3D-structure; Alternative splicing; Cytoplasm; Reference proteome; Signal.
FT SIGNAL 1..17
FT /evidence="ECO:0000255"
FT CHAIN 18..538
FT /note="BTB/POZ domain-containing protein 6"
FT /evidence="ECO:0000255"
FT /id="PRO_0000186213"
FT DOMAIN 136..206
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT REGION 29..53
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 76..115
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 86..104
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..128
FT /note="Missing (in isoform 3)"
FT /id="VSP_061435"
FT VAR_SEQ 1..53
FT /note="Missing (in isoform 2)"
FT /id="VSP_061436"
FT CONFLICT 64
FT /note="A -> R (in Ref. 3; AAK39520)"
FT /evidence="ECO:0000305"
FT CONFLICT 326
FT /note="R -> G (in Ref. 2; AAH42525)"
FT /evidence="ECO:0000305"
FT STRAND 138..144
FT /evidence="ECO:0007829|PDB:2VKP"
FT STRAND 149..153
FT /evidence="ECO:0007829|PDB:2VKP"
FT HELIX 155..161
FT /evidence="ECO:0007829|PDB:2VKP"
FT HELIX 163..169
FT /evidence="ECO:0007829|PDB:2VKP"
FT STRAND 179..182
FT /evidence="ECO:0007829|PDB:2VKP"
FT HELIX 187..199
FT /evidence="ECO:0007829|PDB:2VKP"
FT TURN 206..208
FT /evidence="ECO:0007829|PDB:2VKP"
FT HELIX 209..218
FT /evidence="ECO:0007829|PDB:2VKP"
FT HELIX 222..235
FT /evidence="ECO:0007829|PDB:2VKP"
SQ SEQUENCE 538 AA; 58776 MW; 717B471D736033EF CRC64;
MLLPLACLHG RVAQCLTSLL LLAEPLPRPR RGARARGAAS TGAEAAPAAP PAKMAAELYA
PASAAAADLA NSNAGAAVGR KAGPRSPPSA PAPAPPPPAP APPTLGNNHQ ESPGWRCCRP
TLRERNALMF NNELMADVHF VVGPPGATRT VPAHKYVLAV GSSVFYAMFY GDLAEVKSEI
HIPDVEPAAF LILLKYMYSD EIDLEADTVL ATLYAAKKYI VPALAKACVN FLETSLEAKN
ACVLLSQSRL FEEPELTQRC WEVIDAQAEM ALRSEGFCEI DRQTLEIIVT REALNTKEAV
VFEAVLNWAE AECKRQGLPI TPRNKRHVLG RALYLVRIPT MTLEEFANGA AQSDILTLEE
THSIFLWYTA TNKPRLDFPL TKRKGLAPQR CHRFQSSAYR SNQWRYRGRC DSIQFAVDRR
VFIAGLGLYG SSSGKAEYSV KIELKRLGVV LAQNLTKFMS DGSSNTFPVW FEHPVQVEQD
TFYTASAVLD GSELSYFGQE GMTEVQCGKV AFQFQCSSDS TNGTGVQGGQ IPELIFYA
