Q9BQE9 (BCL7B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
B-cell CLL/lymphoma 7 protein family member B

Alternative name(s):
Allergen=Hom s 3

Gene names

Name:

BCL7B

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	202 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May play a role in lung tumor development or progression.
Tissue specificity	Ubiquitous. Ref.2 Ref.3
Involvement in disease	BCL7B is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of BCL7B may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. Ref.2 Ref.3
Allergenic properties	Causes an allergic reaction in human. Binds to IgE from atopic dermatitis (AD) patients. Identified as an IgE autoantigen in atopic dermatitis (AD) patients with severe skin manifestations. Ref.9
Sequence similarities	Belongs to the BCL7 family.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Disease	Allergen Williams-Beuren syndrome
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Molecular_function	actin binding Non-traceable author statement Ref.1. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9BQE9-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9BQE9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-60: Missing.
     61-88: KSNSSAAREPNGFPSDASANSSLLLEFQ → MPGPWLCPEFLLRKMTTLSCCLCSVWFS

Note: No experimental confirmation available.

Isoform 3 (identifier: Q9BQE9-3)

The sequence of this isoform differs from the canonical sequence as follows:
     163-163: K → F
     164-202: Missing.

Isoform 4 (identifier: Q9BQE9-4)

The sequence of this isoform differs from the canonical sequence as follows:
     89-145: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 202	202	B-cell CLL/lymphoma 7 protein family member B		PRO_0000239829
Amino acid modifications
	Modified residue	114	1	Phosphoserine Ref.10 Ref.11
	Modified residue	118	1	Phosphoserine Ref.11
	Modified residue	122	1	Phosphoserine Ref.11
Natural variations
	Alternative sequence	1 – 60	60	Missing in isoform 2.		VSP_019276
	Alternative sequence	61 – 88	28	KSNSS…LLEFQ → MPGPWLCPEFLLRKMTTLSC CLCSVWFS in isoform 2.		VSP_019277
	Alternative sequence	89 – 145	57	Missing in isoform 4.		VSP_045923
	Alternative sequence	163	1	K → F in isoform 3.		VSP_019278
	Alternative sequence	164 – 202	39	Missing in isoform 3.		VSP_019279
Experimental info
	Sequence conflict	199	1	A → R in CAA62012. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 1, 2001. Version 1. Checksum: 0280371283A02107	FASTA	202	22,195
	10 20 30 40 50 60 MSGRSVRAET RSRAKDDIKK VMAAIEKVRK WEKKWVTVGD TSLRIFKWVP VTDSKEKEKS 70 80 90 100 110 120 KSNSSAAREP NGFPSDASAN SSLLLEFQDE NSNQSSVSDV YQLKVDSSTN SSPSPQQSES 130 140 150 160 170 180 LSPAHTSDFR TDDSQPPTLG QEILEEPSLP SSEVADEPPT LTKEEPVPLE TQVVEEEEDS 190 200 GAPPLKRFCV DQPTVPQTAS ES
	Isoform 2 [UniParc]. Checksum: 90B6CD1D57BDCFE8	FASTA	142	15,530
	10 20 30 40 50 60 MPGPWLCPEF LLRKMTTLSC CLCSVWFSDE NSNQSSVSDV YQLKVDSSTN SSPSPQQSES 70 80 90 100 110 120 LSPAHTSDFR TDDSQPPTLG QEILEEPSLP SSEVADEPPT LTKEEPVPLE TQVVEEEEDS 130 140 GAPPLKRFCV DQPTVPQTAS ES
	Isoform 3 [UniParc]. Checksum: FFC531DE7641F9E0	FASTA	163	17,964
	10 20 30 40 50 60 MSGRSVRAET RSRAKDDIKK VMAAIEKVRK WEKKWVTVGD TSLRIFKWVP VTDSKEKEKS 70 80 90 100 110 120 KSNSSAAREP NGFPSDASAN SSLLLEFQDE NSNQSSVSDV YQLKVDSSTN SSPSPQQSES 130 140 150 160 LSPAHTSDFR TDDSQPPTLG QEILEEPSLP SSEVADEPPT LTF
	Isoform 4 [UniParc]. Checksum: 87EF254102D4F91F	FASTA	145	16,045
	10 20 30 40 50 60 MSGRSVRAET RSRAKDDIKK VMAAIEKVRK WEKKWVTVGD TSLRIFKWVP VTDSKEKEKS 70 80 90 100 110 120 KSNSSAAREP NGFPSDASAN SSLLLEFQEP SLPSSEVADE PPTLTKEEPV PLETQVVEEE 130 140 EDSGAPPLKR FCVDQPTVPQ TASES

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning of complex chromosomal translocation t(8;14;12)(q24.1;q32.3;q24.1) in a Burkitt lymphoma cell line defines a new gene (BCL7A) with homology to caldesmon." Zani V.J., Asou N., Jadayel D., Heward J.M., Shipley J., Nacheva E., Takasuki K., Catovsky D., Dyer M.J.S. Blood 87:3124-3134(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Brain.
[2]	"The BCL7 gene family: deletion of BCL7B in Williams syndrome." Jadayel D.M., Osborne L.R., Coignet L.J.A., Zani V.J., Tsui L.-C., Scherer S.W., Dyer M.J.S. Gene 224:35-44(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), DISEASE, TISSUE SPECIFICITY. Tissue: Skeletal muscle.
[3]	"Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes." Meng X., Lu X., Li Z., Green E.D., Massa H., Trask B.J., Morris C.A., Keating M.T. Hum. Genet. 103:590-599(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), DISEASE, TISSUE SPECIFICITY.
[4]	"Full-length cDNA libraries and normalization." Li W.B., Gruber C., Jessee J., Polayes D. Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). Tissue: Neuroblastoma.
[5]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Subthalamic nucleus and Thalamus.
[6]	"The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K. Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Cervix, Pancreas and Placenta.
[9]	"Isolation of cDNA clones coding for IgE autoantigens with serum IgE from atopic dermatitis patients." Natter S., Seiberler S., Hufnagl P., Binder B.R., Hirschl A.M., Ring J., Abeck D., Schmidt T., Valent P., Valenta R. FASEB J. 12:1559-1569(1998) [PubMed] [Europe PMC] [Abstract] Cited for: ALLERGEN.
[10]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-114, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[11]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-114; SER-118 AND SER-122, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[12]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[13]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	X89985 mRNA. Translation: CAA62012.1. AJ223979 mRNA. Translation: CAA11753.1. BX333744 mRNA. No translation available. AK123497 mRNA. No translation available. AK290091 mRNA. Translation: BAF82780.1. AC005089 Genomic DNA. No translation available. CH471200 Genomic DNA. Translation: EAW69676.1. CH471200 Genomic DNA. Translation: EAW69678.1. BC000956 mRNA. Translation: AAH00956.1. BC001967 mRNA. Translation: AAH01967.1. BC009548 mRNA. Translation: AAH09548.1.
IPI	IPI00142539. IPI00446541. IPI00550034. IPI00927192.
PIR	S58284.
RefSeq	NP_001184173.1. NM_001197244.1. NP_001698.2. NM_001707.3.
UniGene	Hs.647051.
3D structure databases
ProteinModelPortal	Q9BQE9.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BQE9. 1 interaction.
STRING	9606.ENSP00000223368.
Protein family/group databases
Allergome	3324. Hom s 3.0101. 413. Hom s 3.
PTM databases
PhosphoSite	Q9BQE9.
Polymorphism databases
DMDM	74732831.
Proteomic databases
PaxDb	Q9BQE9.
PRIDE	Q9BQE9.
Protocols and materials databases
DNASU	9275.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000223368; ENSP00000223368; ENSG00000106635. ENST00000411832; ENSP00000393230; ENSG00000106635. ENST00000573321; ENSP00000459987; ENSG00000263151. ENST00000575174; ENSP00000459706; ENSG00000263151.
GeneID	9275.
KEGG	hsa:9275.
UCSC	uc003tyf.2. human.
Organism-specific databases
CTD	9275.
GeneCards	GC07M072950.
HGNC	HGNC:1005. BCL7B.
MIM	605846. gene.
neXtProt	NX_Q9BQE9.
Orphanet	904. Williams syndrome.
PharmGKB	PA25315.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG254620.
HOGENOM	HOG000232196.
HOVERGEN	HBG008481.
InParanoid	Q9BQE9.
OMA	KWVPVAD.
OrthoDB	EOG45757S.
PhylomeDB	Q9BQE9.
Gene expression databases
ArrayExpress	Q9BQE9.
Bgee	Q9BQE9.
CleanEx	HS_BCL7B.
Genevestigator	Q9BQE9.
GermOnline	ENSG00000106635. Homo sapiens.
Family and domain databases
InterPro	IPR006804. BCL7. [Graphical view]
PANTHER	PTHR12767. PTHR12767. 1 hit.
Pfam	PF04714. BCL_N. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	9275.
NextBio	34761.
SOURCE	Search...

Entry information

Entry name

BCL7B_HUMAN

Accession

Primary (citable) accession number: Q9BQE9
Secondary accession number(s): A8K226 , C9JWD3, D3DXF0, O43769, Q13845, Q6ZW75

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 13, 2006
Last sequence update:	June 1, 2001
Last modified:	May 1, 2013
This is version 82 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.