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Protein

B-cell CLL/lymphoma 7 protein family member B

Gene

BCL7B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Positive regulator of apoptosis. Plays a role in the Wnt signaling pathway, negatively regulating the expression of Wnt signaling components CTNNB1 and HMGA1 (PubMed:25569233). Involved in cell cycle progression, maintenance of the nuclear structure and stem cell differentiation (PubMed:25569233). May play a role in lung tumor development or progression (By similarity).By similarity1 Publication

GO - Molecular functioni

  • actin binding Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processApoptosis, Differentiation, Wnt signaling pathway

Names & Taxonomyi

Protein namesi
Recommended name:
B-cell CLL/lymphoma 7 protein family member B
Alternative name(s):
Allergen: Hom s 3
Gene namesi
Name:BCL7B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000106635.7
HGNCiHGNC:1005 BCL7B
MIMi605846 gene
neXtProtiNX_Q9BQE9

Pathology & Biotechi

Involvement in diseasei

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.2 Publications

Allergenic propertiesi

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.1 Publication

Keywords - Diseasei

Allergen, Williams-Beuren syndrome

Organism-specific databases

DisGeNETi9275
OpenTargetsiENSG00000106635
PharmGKBiPA25315

Protein family/group databases

Allergomei3324 Hom s 3.0101
413 Hom s 3

Polymorphism and mutation databases

BioMutaiBCL7B

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002398291 – 202B-cell CLL/lymphoma 7 protein family member BAdd BLAST202

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei114PhosphoserineCombined sources1
Modified residuei118PhosphoserineCombined sources1
Modified residuei120PhosphoserineBy similarity1
Modified residuei122PhosphoserineCombined sources1
Modified residuei127PhosphoserineBy similarity1
Modified residuei148PhosphoserineBy similarity1
Modified residuei152PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BQE9
MaxQBiQ9BQE9
PaxDbiQ9BQE9
PeptideAtlasiQ9BQE9
PRIDEiQ9BQE9

PTM databases

iPTMnetiQ9BQE9
PhosphoSitePlusiQ9BQE9

Expressioni

Tissue specificityi

Ubiquitous.2 Publications

Gene expression databases

BgeeiENSG00000106635
CleanExiHS_BCL7B
ExpressionAtlasiQ9BQE9 baseline and differential
GenevisibleiQ9BQE9 HS

Organism-specific databases

HPAiHPA049943
HPA058069

Interactioni

Binary interactionsi

Show more details

GO - Molecular functioni

  • actin binding Source: UniProtKB

Protein-protein interaction databases

BioGridi114692, 34 interactors
IntActiQ9BQE9, 17 interactors
STRINGi9606.ENSP00000223368

Structurei

3D structure databases

ProteinModelPortaliQ9BQE9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the BCL7 family.Curated

Phylogenomic databases

eggNOGiKOG4095 Eukaryota
ENOG4111TES LUCA
GeneTreeiENSGT00390000002172
HOGENOMiHOG000232196
HOVERGENiHBG008481
InParanoidiQ9BQE9
OMAiDFTDENS
PhylomeDBiQ9BQE9
TreeFamiTF317441

Family and domain databases

InterProiView protein in InterPro
IPR006804 BCL7
PANTHERiPTHR12767 PTHR12767, 1 hit
PfamiView protein in Pfam
PF04714 BCL_N, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BQE9-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MSGRSVRAET RSRAKDDIKK VMAAIEKVRK WEKKWVTVGD TSLRIFKWVP
60 70 80 90 100
VTDSKEKEKS KSNSSAAREP NGFPSDASAN SSLLLEFQDE NSNQSSVSDV
110 120 130 140 150
YQLKVDSSTN SSPSPQQSES LSPAHTSDFR TDDSQPPTLG QEILEEPSLP
160 170 180 190 200
SSEVADEPPT LTKEEPVPLE TQVVEEEEDS GAPPLKRFCV DQPTVPQTAS

ES
Length:202
Mass (Da):22,195
Last modified:June 1, 2001 - v1
Checksum:i0280371283A02107
GO
Isoform 2 (identifier: Q9BQE9-2) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.
Show »
Length:142
Mass (Da):15,530
Checksum:i90B6CD1D57BDCFE8
GO
Isoform 3 (identifier: Q9BQE9-3) [UniParc]FASTAAdd to basket

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

Show »
Length:163
Mass (Da):17,964
Checksum:iFFC531DE7641F9E0
GO
Isoform 4 (identifier: Q9BQE9-4) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.
Show »
Length:145
Mass (Da):16,045
Checksum:i87EF254102D4F91F
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti199A → R in CAA62012 (PubMed:8605326).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0192761 – 60Missing in isoform 2. 1 PublicationAdd BLAST60
Alternative sequenceiVSP_01927761 – 88KSNSS…LLEFQ → MPGPWLCPEFLLRKMTTLSC CLCSVWFS in isoform 2. 1 PublicationAdd BLAST28
Alternative sequenceiVSP_04592389 – 145Missing in isoform 4. 1 PublicationAdd BLAST57
Alternative sequenceiVSP_019278163K → F in isoform 3. 1 Publication1
Alternative sequenceiVSP_019279164 – 202Missing in isoform 3. 1 PublicationAdd BLAST39

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS5550.1 [Q9BQE9-1]
CCDS56489.1 [Q9BQE9-4]
PIRiS58284
RefSeqiNP_001184173.1, NM_001197244.1 [Q9BQE9-4]
NP_001287990.1, NM_001301061.1
NP_001698.2, NM_001707.3 [Q9BQE9-1]
UniGeneiHs.647051

Genome annotation databases

EnsembliENST00000223368; ENSP00000223368; ENSG00000106635 [Q9BQE9-1]
ENST00000411832; ENSP00000393230; ENSG00000106635 [Q9BQE9-4]
GeneIDi9275
KEGGihsa:9275
UCSCiuc003tyf.3 human [Q9BQE9-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiBCL7B_HUMAN
AccessioniPrimary (citable) accession number: Q9BQE9
Secondary accession number(s): A8K226
, C9JWD3, D3DXF0, O43769, Q13845, Q6ZW75
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 13, 2006
Last sequence update: June 1, 2001
Last modified: March 28, 2018
This is version 117 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Allergens
    Nomenclature of allergens and list of entries
  2. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families

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