UniProtKB - Q9BQE9 (BCL7B_HUMAN)
Protein
B-cell CLL/lymphoma 7 protein family member B
Gene
BCL7B
Organism
Homo sapiens (Human)
Status
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
- apoptotic process Source: UniProtKB-KW
- cell differentiation Source: UniProtKB-KW
- Wnt signaling pathway Source: UniProtKB-KW
Keywordsi
Biological process | Apoptosis, Differentiation, Wnt signaling pathway |
Enzyme and pathway databases
PathwayCommonsi | Q9BQE9 |
Names & Taxonomyi
Protein namesi | Recommended name: B-cell CLL/lymphoma 7 protein family member BAlternative name(s): Allergen: Hom s 3 |
Gene namesi | Name:BCL7B |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:1005, BCL7B |
MIMi | 605846, gene |
neXtProti | NX_Q9BQE9 |
VEuPathDBi | HostDB:ENSG00000106635.7 |
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 syndromeOrganism-specific databases
DisGeNETi | 9275 |
OpenTargetsi | ENSG00000106635 |
PharmGKBi | PA25315 |
Miscellaneous databases
Pharosi | Q9BQE9, Tbio |
Protein family/group databases
Allergomei | 3324, Hom s 3.0101 413, Hom s 3 |
Genetic variation databases
BioMutai | BCL7B |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000239829 | 1 – 202 | B-cell CLL/lymphoma 7 protein family member BAdd BLAST | 202 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 114 | PhosphoserineCombined sources | 1 | |
Modified residuei | 118 | PhosphoserineCombined sources | 1 | |
Modified residuei | 120 | PhosphoserineBy similarity | 1 | |
Modified residuei | 122 | PhosphoserineCombined sources | 1 | |
Modified residuei | 127 | PhosphoserineBy similarity | 1 | |
Modified residuei | 148 | PhosphoserineBy similarity | 1 | |
Modified residuei | 152 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9BQE9 |
jPOSTi | Q9BQE9 |
MassIVEi | Q9BQE9 |
MaxQBi | Q9BQE9 |
PaxDbi | Q9BQE9 |
PeptideAtlasi | Q9BQE9 |
PRIDEi | Q9BQE9 |
ProteomicsDBi | 11968 78666 [Q9BQE9-1] 78667 [Q9BQE9-2] 78668 [Q9BQE9-3] |
PTM databases
iPTMneti | Q9BQE9 |
PhosphoSitePlusi | Q9BQE9 |
Expressioni
Tissue specificityi
Ubiquitous.2 Publications
Gene expression databases
Bgeei | ENSG00000106635, Expressed in tibial artery and 238 other tissues |
ExpressionAtlasi | Q9BQE9, baseline and differential |
Genevisiblei | Q9BQE9, HS |
Organism-specific databases
HPAi | ENSG00000106635, Low tissue specificity |
Interactioni
Binary interactionsi
Hide detailsQ9BQE9
With | #Exp. | IntAct |
---|---|---|
MAGEA3 [P43357] | 3 | EBI-2560588,EBI-5651459 |
MAGEA6 [P43360] | 6 | EBI-2560588,EBI-1045155 |
TERF2IP [Q9NYB0] | 2 | EBI-2560588,EBI-750109 |
GO - Molecular functioni
- actin binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 114692, 37 interactors |
ComplexPortali | CPX-1195, Embryonic stem cell-specific SWI/SNF ATP-dependent chromatin remodeling complex CPX-4084, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRA-SMARCA2 variant CPX-4203, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRAL-SMARCA2 variant CPX-4206, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRA-SMARCA4 variant CPX-4207, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRAL-SMARCA4 variant CPX-4223, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRA-SMARCA2 variant CPX-4224, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRAL-SMARCA2 variant CPX-4225, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRA-SMARCA4 variant CPX-4226, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRAL-SMARCA4 variant |
IntActi | Q9BQE9, 28 interactors |
STRINGi | 9606.ENSP00000411073 |
Miscellaneous databases
RNActi | Q9BQE9, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the BCL7 family.Curated
Phylogenomic databases
eggNOGi | KOG4095, Eukaryota |
GeneTreei | ENSGT00390000002172 |
HOGENOMi | CLU_110835_1_0_1 |
InParanoidi | Q9BQE9 |
OMAi | KRFCVEQ |
OrthoDBi | 1517597at2759 |
PhylomeDBi | Q9BQE9 |
TreeFami | TF317441 |
Family and domain databases
InterProi | View protein in InterPro IPR006804, BCL7 |
PANTHERi | PTHR12767, PTHR12767, 1 hit |
Pfami | View protein in Pfam PF04714, BCL_N, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9BQE9-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF2Z3H6 | F2Z3H6_HUMAN | B-cell CLL/lymphoma 7 protein famil... | BCL7B hCG_18986 | 213 | Annotation score: | ||
F8WDZ4 | F8WDZ4_HUMAN | B-cell CLL/lymphoma 7 protein famil... | BCL7B | 88 | Annotation score: | ||
F8WE18 | F8WE18_HUMAN | B-cell CLL/lymphoma 7 protein famil... | BCL7B | 78 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 199 | A → R in CAA62012 (PubMed:8605326).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_019276 | 1 – 60 | Missing in isoform 2. 1 PublicationAdd BLAST | 60 | |
Alternative sequenceiVSP_019277 | 61 – 88 | KSNSS…LLEFQ → MPGPWLCPEFLLRKMTTLSC CLCSVWFS in isoform 2. 1 PublicationAdd BLAST | 28 | |
Alternative sequenceiVSP_045923 | 89 – 145 | Missing in isoform 4. 1 PublicationAdd BLAST | 57 | |
Alternative sequenceiVSP_019278 | 163 | K → F in isoform 3. 1 Publication | 1 | |
Alternative sequenceiVSP_019279 | 164 – 202 | Missing in isoform 3. 1 PublicationAdd BLAST | 39 |
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 |
CCDSi | CCDS5550.1 [Q9BQE9-1] CCDS56489.1 [Q9BQE9-4] |
PIRi | S58284 |
RefSeqi | NP_001184173.1, NM_001197244.1 [Q9BQE9-4] NP_001287990.1, NM_001301061.1 NP_001698.2, NM_001707.3 [Q9BQE9-1] |
Genome annotation databases
Ensembli | ENST00000223368; ENSP00000223368; ENSG00000106635 [Q9BQE9-1] ENST00000411832; ENSP00000393230; ENSG00000106635 [Q9BQE9-4] |
GeneIDi | 9275 |
KEGGi | hsa:9275 |
UCSCi | uc003tyf.3, human [Q9BQE9-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
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 |
CCDSi | CCDS5550.1 [Q9BQE9-1] CCDS56489.1 [Q9BQE9-4] |
PIRi | S58284 |
RefSeqi | NP_001184173.1, NM_001197244.1 [Q9BQE9-4] NP_001287990.1, NM_001301061.1 NP_001698.2, NM_001707.3 [Q9BQE9-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 114692, 37 interactors |
ComplexPortali | CPX-1195, Embryonic stem cell-specific SWI/SNF ATP-dependent chromatin remodeling complex CPX-4084, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRA-SMARCA2 variant CPX-4203, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRAL-SMARCA2 variant CPX-4206, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRA-SMARCA4 variant CPX-4207, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRAL-SMARCA4 variant CPX-4223, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRA-SMARCA2 variant CPX-4224, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRAL-SMARCA2 variant CPX-4225, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRA-SMARCA4 variant CPX-4226, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRAL-SMARCA4 variant |
IntActi | Q9BQE9, 28 interactors |
STRINGi | 9606.ENSP00000411073 |
Protein family/group databases
Allergomei | 3324, Hom s 3.0101 413, Hom s 3 |
PTM databases
iPTMneti | Q9BQE9 |
PhosphoSitePlusi | Q9BQE9 |
Genetic variation databases
BioMutai | BCL7B |
Proteomic databases
EPDi | Q9BQE9 |
jPOSTi | Q9BQE9 |
MassIVEi | Q9BQE9 |
MaxQBi | Q9BQE9 |
PaxDbi | Q9BQE9 |
PeptideAtlasi | Q9BQE9 |
PRIDEi | Q9BQE9 |
ProteomicsDBi | 11968 78666 [Q9BQE9-1] 78667 [Q9BQE9-2] 78668 [Q9BQE9-3] |
Protocols and materials databases
Antibodypediai | 28430, 235 antibodies |
DNASUi | 9275 |
Genome annotation databases
Ensembli | ENST00000223368; ENSP00000223368; ENSG00000106635 [Q9BQE9-1] ENST00000411832; ENSP00000393230; ENSG00000106635 [Q9BQE9-4] |
GeneIDi | 9275 |
KEGGi | hsa:9275 |
UCSCi | uc003tyf.3, human [Q9BQE9-1] |
Organism-specific databases
CTDi | 9275 |
DisGeNETi | 9275 |
GeneCardsi | BCL7B |
HGNCi | HGNC:1005, BCL7B |
HPAi | ENSG00000106635, Low tissue specificity |
MIMi | 605846, gene |
neXtProti | NX_Q9BQE9 |
OpenTargetsi | ENSG00000106635 |
PharmGKBi | PA25315 |
VEuPathDBi | HostDB:ENSG00000106635.7 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4095, Eukaryota |
GeneTreei | ENSGT00390000002172 |
HOGENOMi | CLU_110835_1_0_1 |
InParanoidi | Q9BQE9 |
OMAi | KRFCVEQ |
OrthoDBi | 1517597at2759 |
PhylomeDBi | Q9BQE9 |
TreeFami | TF317441 |
Enzyme and pathway databases
PathwayCommonsi | Q9BQE9 |
Miscellaneous databases
BioGRID-ORCSi | 9275, 16 hits in 993 CRISPR screens |
ChiTaRSi | BCL7B, human |
GenomeRNAii | 9275 |
Pharosi | Q9BQE9, Tbio |
PROi | PR:Q9BQE9 |
RNActi | Q9BQE9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000106635, Expressed in tibial artery and 238 other tissues |
ExpressionAtlasi | Q9BQE9, baseline and differential |
Genevisiblei | Q9BQE9, HS |
Family and domain databases
InterProi | View protein in InterPro IPR006804, BCL7 |
PANTHERi | PTHR12767, PTHR12767, 1 hit |
Pfami | View protein in Pfam PF04714, BCL_N, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | BCL7B_HUMAN | |
Accessioni | Q9BQE9Primary (citable) accession number: Q9BQE9 Secondary accession number(s): A8K226 Q6ZW75 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 13, 2006 |
Last sequence update: | June 1, 2001 | |
Last modified: | April 7, 2021 | |
This is version 137 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Allergens
Nomenclature of allergens and list of entries - Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families