BCL8_HUMAN
ID BCL8_HUMAN Reviewed; 100 AA.
AC P0C6P0;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAR-2008, sequence version 1.
DT 25-MAY-2022, entry version 55.
DE RecName: Full=Putative protein BCL8;
DE AltName: Full=Neurobeachin pseudogene 1;
GN Name=NBEAP1; Synonyms=BCL8, BCL8A;
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], AND VARIANTS ALA-33 AND ARG-81.
RC TISSUE=Prostate;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [3]
RP TISSUE SPECIFICITY, AND CHROMOSOMAL TRANSLOCATION.
RX PubMed=9159141; DOI=10.1073/pnas.94.11.5728;
RA Dyomin V.G., Rao P.H., Dalla-Favera R., Chaganti R.S.K.;
RT "BCL8, a novel gene involved in translocations affecting band 15q11-13 in
RT diffuse large-cell lymphoma.";
RL Proc. Natl. Acad. Sci. U.S.A. 94:5728-5732(1997).
RN [4]
RP TISSUE SPECIFICITY, AND CHROMOSOMAL TRANSLOCATION.
RX PubMed=12160729; DOI=10.1006/geno.2002.6822;
RA Dyomin V.G., Chaganti S.R., Dyomina K., Palanisamy N., Murty V.V.V.S.,
RA Dalla-Favera R., Chaganti R.S.K.;
RT "BCL8 is a novel, evolutionarily conserved human gene family encoding
RT proteins with presumptive protein kinase A anchoring function.";
RL Genomics 80:158-165(2002).
CC -!- TISSUE SPECIFICITY: Expressed in prostate and testis.
CC {ECO:0000269|PubMed:12160729, ECO:0000269|PubMed:9159141}.
CC -!- DISEASE: Note=A chromosomal aberration involving BCL8 has been observed
CC in diffuse large cell lymphoma (DLCL). Translocation t(14;15)(q32;q11-
CC q13). The BCL8/IgH translocation leaves the coding region of BCL8
CC intact, but may have pathogenic effects due to alterations in the
CC expression level of BCL8.
CC -!- CAUTION: Could be the product of a pseudogene. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/BCL8ID781ch15q11.html";
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DR EMBL; DA278599; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC131280; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR AlphaFoldDB; P0C6P0; -.
DR BioMuta; HGNC:1007; -.
DR PeptideAtlas; P0C6P0; -.
DR PRIDE; P0C6P0; -.
DR GeneCards; NBEAP1; -.
DR HGNC; HGNC:1007; NBEAP1.
DR MIM; 601889; gene.
DR neXtProt; NX_P0C6P0; -.
DR InParanoid; P0C6P0; -.
DR ChiTaRS; NBEAP1; human.
DR Pharos; P0C6P0; Tdark.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; P0C6P0; protein.
DR InterPro; IPR031570; NBEA/BDCP_DUF4704.
DR Pfam; PF15787; DUF4704; 1.
PE 5: Uncertain;
KW Chromosomal rearrangement; Reference proteome.
FT CHAIN 1..100
FT /note="Putative protein BCL8"
FT /id="PRO_0000324087"
FT VARIANT 33
FT /note="V -> A (in dbSNP:rs6422240)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_039648"
FT VARIANT 54
FT /note="T -> I (in dbSNP:rs6422239)"
FT /id="VAR_039649"
FT VARIANT 81
FT /note="C -> R (in dbSNP:rs7497658)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_039650"
FT CONFLICT 92
FT /note="H -> R (in Ref. 1; DA278599)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 100 AA; 11233 MW; 7B5EF08E30FF8F64 CRC64;
MSCCLSSRVH ITRPVLEQFL SFAKYLDGLS HGVPLLKQLC DHILFINPAI WIHTPAKVQL
SLYTYLSAEF IGTATIYTTI CRIGTVIKDN AHLKILLLGY
