BTBD8_HUMAN
ID BTBD8_HUMAN Reviewed; 378 AA.
AC Q5XKL5; Q6V9S5;
DT 30-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 14-APR-2009, sequence version 2.
DT 03-AUG-2022, entry version 137.
DE RecName: Full=BTB/POZ domain-containing protein 8;
GN Name=BTBD8;
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 [MRNA] (ISOFORM 2).
RA He T., Xu J., Xie Y., Mao Y.;
RT "Molecular cloning and characterization of a novel DBTB gene containing a
RT double BTB domain.";
RL Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Bone marrow;
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 [4]
RP SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RX PubMed=14654994;
RA Xu J., He T., Wang L., Wu Q., Zhao E., Wu M., Dou T., Ji C., Gu S., Yin K.,
RA Xie Y., Mao Y.;
RT "Molecular cloning and characterization of a novel human BTBD8 gene
RT containing double BTB/POZ domains.";
RL Int. J. Mol. Med. 13:193-197(2004).
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14654994}.
CC Note=Localized to nucleus in fetal cells.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5XKL5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5XKL5-2; Sequence=VSP_019116, VSP_019117;
CC -!- TISSUE SPECIFICITY: Highly expressed in fetal brain. Weakly expressed
CC in adult brain and prostate. {ECO:0000269|PubMed:14654994}.
CC -!- DEVELOPMENTAL STAGE: Expressed mainly in fetal tissues.
CC {ECO:0000269|PubMed:14654994}.
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DR EMBL; AY346333; AAQ24383.1; -; mRNA.
DR EMBL; AC104836; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC013922; AAH13922.1; -; mRNA.
DR RefSeq; NP_899065.2; NM_183242.3.
DR AlphaFoldDB; Q5XKL5; -.
DR SMR; Q5XKL5; -.
DR BioGRID; 129937; 4.
DR IntAct; Q5XKL5; 2.
DR STRING; 9606.ENSP00000343686; -.
DR BioMuta; BTBD8; -.
DR DMDM; 226693502; -.
DR EPD; Q5XKL5; -.
DR jPOST; Q5XKL5; -.
DR MassIVE; Q5XKL5; -.
DR PaxDb; Q5XKL5; -.
DR PeptideAtlas; Q5XKL5; -.
DR PRIDE; Q5XKL5; -.
DR TopDownProteomics; Q5XKL5-2; -. [Q5XKL5-2]
DR Antibodypedia; 33636; 33 antibodies from 12 providers.
DR Ensembl; ENST00000342818.4; ENSP00000343686.3; ENSG00000189195.15. [Q5XKL5-1]
DR UCSC; uc001doo.5; human. [Q5XKL5-1]
DR DisGeNET; 284697; -.
DR GeneCards; BTBD8; -.
DR HGNC; HGNC:21019; BTBD8.
DR HPA; ENSG00000189195; Group enriched (brain, retina, testis).
DR neXtProt; NX_Q5XKL5; -.
DR OpenTargets; ENSG00000189195; -.
DR PharmGKB; PA134916444; -.
DR VEuPathDB; HostDB:ENSG00000189195; -.
DR eggNOG; ENOG502S0TN; Eukaryota.
DR GeneTree; ENSGT00940000154382; -.
DR HOGENOM; CLU_062039_0_0_1; -.
DR InParanoid; Q5XKL5; -.
DR OrthoDB; 761810at2759; -.
DR PhylomeDB; Q5XKL5; -.
DR TreeFam; TF330633; -.
DR PathwayCommons; Q5XKL5; -.
DR SignaLink; Q5XKL5; -.
DR BioGRID-ORCS; 284697; 15 hits in 1104 CRISPR screens.
DR ChiTaRS; BTBD8; human.
DR GenomeRNAi; 284697; -.
DR Pharos; Q5XKL5; Tdark.
DR PRO; PR:Q5XKL5; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5XKL5; protein.
DR Bgee; ENSG00000189195; Expressed in Brodmann (1909) area 23 and 155 other tissues.
DR ExpressionAtlas; Q5XKL5; baseline and differential.
DR Genevisible; Q5XKL5; HS.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR CDD; cd18490; BACK_BTBD8; 1.
DR Gene3D; 3.30.710.10; -; 2.
DR InterPro; IPR043225; BACK_BTBD8.
DR InterPro; IPR000210; BTB/POZ_dom.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR Pfam; PF00651; BTB; 2.
DR SMART; SM00225; BTB; 2.
DR SUPFAM; SSF54695; SSF54695; 2.
DR PROSITE; PS50097; BTB; 2.
PE 2: Evidence at transcript level;
KW Alternative splicing; Nucleus; Reference proteome; Repeat.
FT CHAIN 1..378
FT /note="BTB/POZ domain-containing protein 8"
FT /id="PRO_0000239224"
FT DOMAIN 58..127
FT /note="BTB 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT DOMAIN 206..273
FT /note="BTB 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT VAR_SEQ 279..305
FT /note="QILNMADMYGLEGLKEVAIYILRRDYC -> YVFLFNNLKYKRVRFCFVELC
FT CKVLMK (in isoform 2)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_019116"
FT VAR_SEQ 306..378
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_019117"
FT VARIANT 60
FT /note="V -> I (in dbSNP:rs34856868)"
FT /id="VAR_048436"
FT VARIANT 136
FT /note="K -> R (in dbSNP:rs17131602)"
FT /id="VAR_033637"
FT CONFLICT 204
FT /note="C -> G (in Ref. 3; AAH13922)"
FT /evidence="ECO:0000305"
FT CONFLICT 376
FT /note="S -> N (in Ref. 3; AAH13922)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 378 AA; 42793 MW; 9265EDA772BB1516 CRC64;
MARCGEGSAA PMVLLGSAGV CSKGLQRKGP CERRRLKATV SEQLSQDLLR LLREEFHTDV
TFSVGCTLFK AHKAVLLARV PDFYFHTIGQ TSNSLTNQEP IAVENVEALE FRTFLQIIYS
SNRNIKNYEE EILRKKIMEI GISQKQLDIS FPKCENSSDC SLQKHEIPED ISDRDDDFIS
NDNYDLEPAS ELGEDLLKLY VKPCCPDIDI FVDGKRFKAH RAILSARSSY FAAMLSGCWA
ESSQEYVTLQ GISHVELNVM MHFIYGGTLD IPDKTNVGQI LNMADMYGLE GLKEVAIYIL
RRDYCNFFQK PVPRTLTSIL ECLIIAHSVG VESLFADCMK WIVKHFARFW SERSFANIPP
EIQKSCLNML IQSLVSIT
