P0C6P0 (BCL8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Putative protein BCL8

Alternative name(s):
Neurobeachin pseudogene 1

Gene names

Name:	NBEAP1
Synonyms:	BCL8, BCL8A

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	100 AA.
Sequence status	Complete.
Protein existence	Uncertain

General annotation (Comments)

Tissue specificity	Expressed in prostate and testis. Ref.3 Ref.4
Involvement in disease	Note=A chromosomal aberration involving BCL8 has been observed in diffuse large cell lymphoma (DLCL). Translocation t(14;15)(q32;q11-q13). The BCL8/IgH translocation leaves the coding region of BCL8 intact, but may have pathogenic effects due to alterations in the expression level of BCL8.
Caution	Could be the product of a pseudogene.

Ontologies

Keywords
Coding sequence diversity	Chromosomal rearrangement Polymorphism
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 100	100	Putative protein BCL8		PRO_0000324087
Natural variations
	Natural variant	33	1	V → A. Ref.1 Corresponds to variant rs6422240 [ dbSNP | Ensembl ].		VAR_039648
	Natural variant	54	1	T → I. Corresponds to variant rs6422239 [ dbSNP | Ensembl ].		VAR_039649
	Natural variant	81	1	C → R. Ref.1 Corresponds to variant rs7497658 [ dbSNP | Ensembl ].		VAR_039650
Experimental info
	Sequence conflict	92	1	H → R in DA278599. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P0C6P0 [UniParc]. Last modified March 18, 2008. Version 1. Checksum: 7B5EF08E30FF8F64	FASTA	100	11,233
	10 20 30 40 50 60 MSCCLSSRVH ITRPVLEQFL SFAKYLDGLS HGVPLLKQLC DHILFINPAI WIHTPAKVQL 70 80 90 100 SLYTYLSAEF IGTATIYTTI CRIGTVIKDN AHLKILLLGY

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS ALA-33 AND ARG-81. Tissue: Prostate.
[2]	"Analysis of the DNA sequence and duplication history of human chromosome 15." Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C. Nature 440:671-675(2006) [PubMed: 16572171] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"BCL8, a novel gene involved in translocations affecting band 15q11-13 in diffuse large-cell lymphoma." Dyomin V.G., Rao P.H., Dalla-Favera R., Chaganti R.S.K. Proc. Natl. Acad. Sci. U.S.A. 94:5728-5732(1997) [PubMed: 9159141] [Abstract] Cited for: TISSUE SPECIFICITY, CHROMOSOMAL TRANSLOCATION.
[4]	"BCL8 is a novel, evolutionarily conserved human gene family encoding proteins with presumptive protein kinase A anchoring function." Dyomin V.G., Chaganti S.R., Dyomina K., Palanisamy N., Murty V.V.V.S., Dalla-Favera R., Chaganti R.S.K. Genomics 80:158-165(2002) [PubMed: 12160729] [Abstract] Cited for: TISSUE SPECIFICITY, CHROMOSOMAL TRANSLOCATION.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	DA278599 mRNA. No translation available. AC131280 Genomic DNA. No translation available.
IPI	IPI00748575.
UniGene	Hs.657985.
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	P0C6P0.
Proteomic databases
PRIDE	P0C6P0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Organism-specific databases
GeneCards	GC15M020875.
HGNC	HGNC:1007. NBEAP1.
MIM	601889. gene.
neXtProt	NX_P0C6P0.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	HBG505608.
Gene expression databases
Genevestigator	P0C6P0.
Family and domain databases
ProtoNet	Search...
Other
NextBio	2465.
SOURCE	Search...

Entry information

Entry name

BCL8_HUMAN

Accession

Primary (citable) accession number: P0C6P0

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 18, 2008
Last sequence update:	March 18, 2008
Last modified:	January 25, 2012
This is version 25 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.