BTBDI_HUMAN
ID BTBDI_HUMAN Reviewed; 712 AA.
AC B2RXH4;
DT 18-MAY-2010, integrated into UniProtKB/Swiss-Prot.
DT 01-JUL-2008, sequence version 1.
DT 03-AUG-2022, entry version 91.
DE RecName: Full=BTB/POZ domain-containing protein 18 {ECO:0000305};
GN Name=BTBD18 {ECO:0000312|HGNC:HGNC:37214};
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=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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: Specifically required during spermatogenesis to promote
CC expression of piRNA precursors. The piRNA metabolic process mediates
CC the repression of transposable elements during meiosis by forming
CC complexes composed of piRNAs and Piwi proteins and governs the
CC methylation and subsequent repression of transposons, which is
CC essential for the germline integrity. Acts by facilitating
CC transcription elongation at piRNA loci during pachytene.
CC {ECO:0000250|UniProtKB:A0A0A6YY25}.
CC -!- INTERACTION:
CC B2RXH4; Q9UBU9: NXF1; NbExp=3; IntAct=EBI-18298734, EBI-398874;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:A0A0A6YY25}.
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DR EMBL; AP001931; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471076; EAW73783.1; -; Genomic_DNA.
DR EMBL; BC157853; AAI57854.1; -; mRNA.
DR EMBL; BC157854; AAI57855.1; -; mRNA.
DR CCDS; CCDS44603.1; -.
DR RefSeq; NP_001138573.1; NM_001145101.1.
DR RefSeq; XP_011543514.1; XM_011545212.2.
DR RefSeq; XP_016873616.1; XM_017018127.1.
DR RefSeq; XP_016873617.1; XM_017018128.1.
DR AlphaFoldDB; B2RXH4; -.
DR SMR; B2RXH4; -.
DR BioGRID; 568729; 4.
DR IntAct; B2RXH4; 1.
DR STRING; 9606.ENSP00000394472; -.
DR iPTMnet; B2RXH4; -.
DR PhosphoSitePlus; B2RXH4; -.
DR BioMuta; BTBD18; -.
DR jPOST; B2RXH4; -.
DR MassIVE; B2RXH4; -.
DR PaxDb; B2RXH4; -.
DR PeptideAtlas; B2RXH4; -.
DR PRIDE; B2RXH4; -.
DR Antibodypedia; 62798; 13 antibodies from 8 providers.
DR DNASU; 643376; -.
DR Ensembl; ENST00000422652.6; ENSP00000394472.1; ENSG00000233436.8.
DR Ensembl; ENST00000436147.3; ENSP00000397020.2; ENSG00000233436.8.
DR Ensembl; ENST00000527995.2; ENSP00000432341.2; ENSG00000233436.8.
DR GeneID; 643376; -.
DR KEGG; hsa:643376; -.
DR MANE-Select; ENST00000422652.6; ENSP00000394472.1; NM_001145101.3; NP_001138573.1.
DR UCSC; uc009ymm.4; human.
DR CTD; 643376; -.
DR DisGeNET; 643376; -.
DR GeneCards; BTBD18; -.
DR HGNC; HGNC:37214; BTBD18.
DR HPA; ENSG00000233436; Group enriched (brain, testis).
DR neXtProt; NX_B2RXH4; -.
DR OpenTargets; ENSG00000233436; -.
DR PharmGKB; PA165543229; -.
DR VEuPathDB; HostDB:ENSG00000233436; -.
DR eggNOG; KOG4441; Eukaryota.
DR GeneTree; ENSGT00560000078563; -.
DR HOGENOM; CLU_380792_0_0_1; -.
DR InParanoid; B2RXH4; -.
DR OMA; QQSGVFC; -.
DR OrthoDB; 1090350at2759; -.
DR PhylomeDB; B2RXH4; -.
DR PathwayCommons; B2RXH4; -.
DR SignaLink; B2RXH4; -.
DR BioGRID-ORCS; 643376; 10 hits in 1101 CRISPR screens.
DR ChiTaRS; BTBD18; human.
DR GenomeRNAi; 643376; -.
DR Pharos; B2RXH4; Tdark.
DR PRO; PR:B2RXH4; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; B2RXH4; protein.
DR Bgee; ENSG00000233436; Expressed in bone marrow cell and 68 other tissues.
DR ExpressionAtlas; B2RXH4; baseline and differential.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0007141; P:male meiosis I; ISS:UniProtKB.
DR GO; GO:0010529; P:negative regulation of transposition; ISS:UniProtKB.
DR GO; GO:1990511; P:piRNA biosynthetic process; ISS:UniProtKB.
DR GO; GO:0032968; P:positive regulation of transcription elongation from RNA polymerase II promoter; ISS:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; ISS:UniProtKB.
DR Gene3D; 3.30.710.10; -; 1.
DR InterPro; IPR000210; BTB/POZ_dom.
DR InterPro; IPR042915; BTBD18.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR PANTHER; PTHR47639; PTHR47639; 1.
DR Pfam; PF00651; BTB; 1.
DR SMART; SM00225; BTB; 1.
DR SUPFAM; SSF54695; SSF54695; 1.
DR PROSITE; PS50097; BTB; 1.
PE 1: Evidence at protein level;
KW Differentiation; Nucleus; Phosphoprotein; Reference proteome;
KW Spermatogenesis; Transcription; Transcription regulation.
FT CHAIN 1..712
FT /note="BTB/POZ domain-containing protein 18"
FT /id="PRO_0000394237"
FT DOMAIN 34..102
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT REGION 157..176
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 212..355
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 374..410
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 653..676
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 691..712
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 270..293
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 299..313
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 318..332
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 396..410
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 695..712
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 420
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A0A0A6YY25"
FT MOD_RES 671
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A0A0A6YY25"
FT MOD_RES 672
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A0A0A6YY25"
FT VARIANT 302
FT /note="S -> T (in dbSNP:rs78162678)"
FT /id="VAR_063155"
FT VARIANT 352
FT /note="E -> G (in dbSNP:rs201912857)"
FT /id="VAR_063156"
SQ SEQUENCE 712 AA; 77931 MW; 08B388B0B1BB871B CRC64;
MCSPASPKIL YRNPRFLRLA FLQLHHQQQS DVFCDVLLQA EGEAVPAHCC ILSACSPFFT
ERLERERPAQ GGKVVLELGG LKISTLRKLV DFLYTSEMEV SQEEAQDVLS AARQLRVSEL
ESLQLEGGKL VKAPQGRRLN RECLQPTSAA PISARVVTPS HHPHTPLPTN QTPCPLGAIR
LKSLGKEEGP QENNRQNADN LSGTLLLKRK ARACPTPQEK NSSPSSHSQE PRENKNDTAL
DPTVLSPPSL YPSVDKHLLP RKIRLSRSKP SPGICTSKPS SILSGSSSVP ATPGRRLWRQ
RSVNKETPED KPKPGRASPL QSTPNPSGLG KTGGSRKRSP EVRAPNSDSA EEGQVGRVKL
RKIVNGTCWE VVQETPLKNT QDSPQIPDPG GDFQEPSGTQ PFSSNEQEMS PTRTELCQDS
PMCTKLQDIL VSASHSPDHP VVKSEFESSP ELVEKEPMLA IDCREPYAFD TALLEQPCEA
EEYRITSAAA TSELEEILDF MLCGSDIEPP IGSLESPGAE GCRTPTYHLT ETGKNWIEGE
EWCLPDMELW PRELTELEKE PAGENRGPTE LLSPLVMPSE VSEVLSVGGR WTPDLEITSS
QPLDGQEDKL LHVSSLDTPQ RSYGDLSPPC SNWVETGLEV SLTTDELLYP SPKAGKEVSG
HSELLGSLPA SSEEEEIDVV DWTAEGRLVP TTVPSVWPDP SSESETEVDI LT
