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Protein

B-cell CLL/lymphoma 7 protein family member B

Gene

BCL7B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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

Complete GO annotation...

Keywords - Biological processi

Apoptosis, 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

HGNCiHGNC:1005. BCL7B.

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.

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

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)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 202202B-cell CLL/lymphoma 7 protein family member BPRO_0000239829Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei114 – 1141PhosphoserineCombined sources
Modified residuei118 – 1181PhosphoserineCombined sources
Modified residuei120 – 1201PhosphoserineBy similarity
Modified residuei122 – 1221PhosphoserineCombined sources
Modified residuei127 – 1271PhosphoserineBy similarity
Modified residuei148 – 1481PhosphoserineBy similarity
Modified residuei152 – 1521PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BQE9.
MaxQBiQ9BQE9.
PaxDbiQ9BQE9.
PeptideAtlasiQ9BQE9.
PRIDEiQ9BQE9.

PTM databases

iPTMnetiQ9BQE9.
PhosphoSiteiQ9BQE9.

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

WithEntry#Exp.IntActNotes
MAGEA6P433603EBI-2560588,EBI-1045155
TERF2IPQ9NYB02EBI-2560588,EBI-750109

GO - Molecular functioni

  • actin binding Source: UniProtKB

Protein-protein interaction databases

BioGridi114692. 33 interactions.
IntActiQ9BQE9. 16 interactions.
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.
OMAiDSQPPML.
PhylomeDBiQ9BQE9.
TreeFamiTF317441.

Family and domain databases

InterProiIPR006804. BCL7.
[Graphical view]
PANTHERiPTHR12767. PTHR12767. 1 hit.
PfamiPF04714. BCL_N. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti199 – 1991A → R in CAA62012 (PubMed:8605326).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 6060Missing in isoform 2. 1 PublicationVSP_019276Add
BLAST
Alternative sequencei61 – 8828KSNSS…LLEFQ → MPGPWLCPEFLLRKMTTLSC CLCSVWFS in isoform 2. 1 PublicationVSP_019277Add
BLAST
Alternative sequencei89 – 14557Missing in isoform 4. 1 PublicationVSP_045923Add
BLAST
Alternative sequencei163 – 1631K → F in isoform 3. 1 PublicationVSP_019278
Alternative sequencei164 – 20239Missing in isoform 3. 1 PublicationVSP_019279Add
BLAST

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

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.
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.

3D structure databases

ProteinModelPortaliQ9BQE9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114692. 33 interactions.
IntActiQ9BQE9. 16 interactions.
STRINGi9606.ENSP00000223368.

Protein family/group databases

Allergomei3324. Hom s 3.0101.
413. Hom s 3.

PTM databases

iPTMnetiQ9BQE9.
PhosphoSiteiQ9BQE9.

Polymorphism and mutation databases

BioMutaiBCL7B.

Proteomic databases

EPDiQ9BQE9.
MaxQBiQ9BQE9.
PaxDbiQ9BQE9.
PeptideAtlasiQ9BQE9.
PRIDEiQ9BQE9.

Protocols and materials databases

DNASUi9275.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi9275.
GeneCardsiBCL7B.
HGNCiHGNC:1005. BCL7B.
HPAiHPA049943.
HPA058069.
MIMi605846. gene.
neXtProtiNX_Q9BQE9.
PharmGKBiPA25315.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4095. Eukaryota.
ENOG4111TES. LUCA.
GeneTreeiENSGT00390000002172.
HOGENOMiHOG000232196.
HOVERGENiHBG008481.
InParanoidiQ9BQE9.
OMAiDSQPPML.
PhylomeDBiQ9BQE9.
TreeFamiTF317441.

Miscellaneous databases

ChiTaRSiBCL7B. human.
GenomeRNAii9275.
PROiQ9BQE9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000106635.
CleanExiHS_BCL7B.
ExpressionAtlasiQ9BQE9. baseline and differential.
GenevisibleiQ9BQE9. HS.

Family and domain databases

InterProiIPR006804. BCL7.
[Graphical view]
PANTHERiPTHR12767. PTHR12767. 1 hit.
PfamiPF04714. BCL_N. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiBCL7B_HUMAN
AccessioniPrimary (citable) accession number: Q9BQE9
Secondary accession number(s): A8K226
, C9JWD3, D3DXF0, O43769, Q13845, Q6ZW75
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 13, 2006
Last sequence update: June 1, 2001
Last modified: September 7, 2016
This is version 112 of the entry and version 1 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.