BWR1B_HUMAN
ID BWR1B_HUMAN Reviewed; 253 AA.
AC Q8N1D0; E9PLK8; O43563;
DT 06-DEC-2005, integrated into UniProtKB/Swiss-Prot.
DT 28-NOV-2012, sequence version 3.
DT 03-AUG-2022, entry version 124.
DE RecName: Full=Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene B protein;
DE AltName: Full=Organic cation transporter-like protein 2 antisense protein;
DE AltName: Full=Solute carrier family 22 member 1-like antisense protein;
DE AltName: Full=Solute carrier family 22 member 18 antisense protein;
DE AltName: Full=p27-Beckwith-Wiedemann region 1 B;
DE Short=p27-BWR1B;
GN Name=SLC22A18AS; Synonyms=BWR1B, BWSCR1B, ORCTL2S, SLC22A1LS;
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 1), AND VARIANTS ASP-89 AND ARG-133.
RX PubMed=9570947; DOI=10.1006/geno.1998.5221;
RA Cooper P.R., Smilinich N.J., Day C.D., Nowak N.J., Reid L.H.,
RA Pearsall R.S., Reece M., Prawitt D., Landers J., Housman D.E.,
RA Winterpacht A., Zabel B.U., Pelletier J., Weissman B.E., Shows T.B.,
RA Higgins M.J.;
RT "Divergently transcribed overlapping genes expressed in liver and kidney
RT and located in the 11p15.5 imprinted domain.";
RL Genomics 49:38-51(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS ASP-89 AND ARG-133, AND
RP TISSUE SPECIFICITY.
RX PubMed=9520460; DOI=10.1073/pnas.95.7.3873;
RA Schwienbacher C., Sabbioni S., Campi M., Veronese A., Bernardi G.,
RA Menegatti A., Hatada I., Mukai T., Ohashi H., Barbanti-Brodano G.,
RA Croce C.M., Negrini M.;
RT "Transcriptional map of 170-kb region at chromosome 11p15.5: identification
RT and mutational analysis of the BWR1A gene reveals the presence of mutations
RT in tumor samples.";
RL Proc. Natl. Acad. Sci. U.S.A. 95:3873-3878(1998).
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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 TISSUE SPECIFICITY.
RX PubMed=15175115; DOI=10.1186/1471-2156-5-13;
RA Bajaj V., Markandaya M., Krishna L., Kumar A.;
RT "Paternal imprinting of the SLC22A1LS gene located in the human chromosome
RT segment 11p15.5.";
RL BMC Genet. 5:13-13(2004).
CC -!- INTERACTION:
CC Q8N1D0-2; Q86UW9: DTX2; NbExp=3; IntAct=EBI-12829638, EBI-740376;
CC Q8N1D0-2; O43559: FRS3; NbExp=3; IntAct=EBI-12829638, EBI-725515;
CC Q8N1D0-2; Q0VD86: INCA1; NbExp=3; IntAct=EBI-12829638, EBI-6509505;
CC Q8N1D0-2; Q16656-4: NRF1; NbExp=3; IntAct=EBI-12829638, EBI-11742836;
CC Q8N1D0-2; Q6DKK2: TTC19; NbExp=5; IntAct=EBI-12829638, EBI-948354;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N1D0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N1D0-2; Sequence=VSP_016499;
CC -!- TISSUE SPECIFICITY: Most abundantly expressed in gastrointestinal
CC tissues. Expressed at lower levels in kidney and placenta. Expressed in
CC fetal brain, liver, placenta, kidney and lung.
CC {ECO:0000269|PubMed:15175115, ECO:0000269|PubMed:9520460}.
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DR EMBL; AF037066; AAC04789.1; -; mRNA.
DR EMBL; AF035407; AAC17497.1; -; mRNA.
DR EMBL; AC013791; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC030237; AAH30237.1; -; mRNA.
DR RefSeq; NP_001289791.1; NM_001302862.1.
DR RefSeq; NP_009036.2; NM_007105.3.
DR RefSeq; XP_016873323.1; XM_017017834.1.
DR RefSeq; XP_016873324.1; XM_017017835.1.
DR RefSeq; XP_016873325.1; XM_017017836.1.
DR AlphaFoldDB; Q8N1D0; -.
DR BioGRID; 111045; 6.
DR IntAct; Q8N1D0; 5.
DR STRING; 9606.ENSP00000433282; -.
DR iPTMnet; Q8N1D0; -.
DR PhosphoSitePlus; Q8N1D0; -.
DR BioMuta; SLC22A18AS; -.
DR DMDM; 425906069; -.
DR PaxDb; Q8N1D0; -.
DR PRIDE; Q8N1D0; -.
DR ProteomicsDB; 21827; -.
DR ProteomicsDB; 71586; -. [Q8N1D0-1]
DR Antibodypedia; 54464; 55 antibodies from 15 providers.
DR DNASU; 5003; -.
DR Ensembl; ENST00000455942.3; ENSP00000488024.1; ENSG00000254827.6. [Q8N1D0-2]
DR Ensembl; ENST00000526203.1; ENSP00000487669.1; ENSG00000254827.6. [Q8N1D0-2]
DR Ensembl; ENST00000625099.4; ENSP00000487968.1; ENSG00000254827.6. [Q8N1D0-1]
DR GeneID; 5003; -.
DR CTD; 5003; -.
DR DisGeNET; 5003; -.
DR GeneCards; SLC22A18AS; -.
DR HGNC; HGNC:10965; SLC22A18AS.
DR HPA; ENSG00000254827; Group enriched (intestine, kidney, liver).
DR MIM; 603240; gene.
DR neXtProt; NX_Q8N1D0; -.
DR OpenTargets; ENSG00000254827; -.
DR PharmGKB; PA35847; -.
DR VEuPathDB; HostDB:ENSG00000254827; -.
DR eggNOG; ENOG502TFJQ; Eukaryota.
DR GeneTree; ENSGT00530000067982; -.
DR HOGENOM; CLU_1098228_0_0_1; -.
DR InParanoid; Q8N1D0; -.
DR OMA; EGMWENC; -.
DR OrthoDB; 1126135at2759; -.
DR PhylomeDB; Q8N1D0; -.
DR TreeFam; TF341850; -.
DR PathwayCommons; Q8N1D0; -.
DR SignaLink; Q8N1D0; -.
DR BioGRID-ORCS; 5003; 13 hits in 1067 CRISPR screens.
DR GenomeRNAi; 5003; -.
DR Pharos; Q8N1D0; Tdark.
DR PRO; PR:Q8N1D0; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q8N1D0; protein.
DR Bgee; ENSG00000254827; Expressed in mucosa of transverse colon and 88 other tissues.
DR Genevisible; Q8N1D0; HS.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..253
FT /note="Beckwith-Wiedemann syndrome chromosomal region 1
FT candidate gene B protein"
FT /id="PRO_0000076187"
FT REGION 200..225
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 234..253
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 236..253
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..103
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_016499"
FT VARIANT 89
FT /note="G -> D (in dbSNP:rs365605)"
FT /evidence="ECO:0000269|PubMed:9520460,
FT ECO:0000269|PubMed:9570947"
FT /id="VAR_068886"
FT VARIANT 133
FT /note="G -> R (in dbSNP:rs441071)"
FT /evidence="ECO:0000269|PubMed:9520460,
FT ECO:0000269|PubMed:9570947"
FT /id="VAR_024064"
SQ SEQUENCE 253 AA; 27061 MW; 2E72F1460693D249 CRC64;
MGELPGSEGM WENCPLGWVK KKASGTLAPL DFLLQRKRLW LWASEPVRPQ PQGIHRFREA
RRQFCRMRGS RLTGGRKGFG SSGLRFGRGG FSEEVMPQPV LKAMRCAEGA WWFSPDGPAG
SAASIWPAEG AEGLPGQLGR DRLEVVYSVP DNVPGQNGSR RPLVCKITGK CLSVCSEENA
KAGGCSAFPL LLSQLGARMT GREHAHKGPE LTTPDSGLPR PPNPALAGFR ALAQHSPPLG
TSTPSAVLLS AAT
