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BCL9 B cell CLL/lymphoma 9 [ Homo sapiens (human) ]

Gene ID: 607, updated on 5-Aug-2018

Summary

Official Symbol
BCL9provided by HGNC
Official Full Name
B cell CLL/lymphoma 9provided by HGNC
Primary source
HGNC:HGNC:1008
See related
Ensembl:ENSG00000116128 MIM:602597; Vega:OTTHUMG00000014031
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LGS
Summary
BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in endometrium (RPKM 9.5), ovary (RPKM 8.1) and 25 other tissues See more
Orthologs

Genomic context

See BCL9 in Genome Data Viewer
Location:
1q21.2
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (147541501..147626219)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (147013222..147098022)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 624 Neighboring gene olfactory receptor family 13 subfamily Z member 2 pseudogene Neighboring gene olfactory receptor family 13 subfamily Z member 3 pseudogene Neighboring gene acid phosphatase 6, lysophosphatidic Neighboring gene uncharacterized LOC102723321 Neighboring gene uncharacterized LOC105371230 Neighboring gene RNA, 7SL, cytoplasmic 261, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
NHGRI GWA Catalog
BCL9 and C9orf5 are associated with negative symptoms in schizophrenia: meta-analysis of two genome-wide association studies.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of B-cell CLL/lymphoma 9 (BCL9) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC131591

Gene Ontology Provided by GOA

Function Evidence Code Pubs
beta-catenin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
beta-catenin-TCF complex assembly TAS
Traceable Author Statement
more info
 
canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
myotube differentiation involved in skeletal muscle regeneration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
NOT regulation of transforming growth factor beta receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
skeletal muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
somatic stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
beta-catenin-TCF complex IDA
Inferred from Direct Assay
more info
PubMed 
beta-catenin-TCF complex IPI
Inferred from Physical Interaction
more info
PubMed 
cis-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
B-cell CLL/lymphoma 9 protein
Names
B-cell lymphoma 9 protein
bcl-9
protein legless homolog

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_004326.3NP_004317.2  B-cell CLL/lymphoma 9 protein

    See identical proteins and their annotated locations for NP_004317.2

    Status: REVIEWED

    Source sequence(s)
    AC242628, AW104430, BC116451, CN281037, CN281038, DA593760
    Consensus CDS
    CCDS30833.1
    UniProtKB/Swiss-Prot
    O00512
    UniProtKB/TrEMBL
    A0A024QYY4, Q1JQ81
    Related
    ENSP00000234739.3, OTTHUMP00000015909, ENST00000234739.7, OTTHUMT00000039468
    Conserved Domains (1) summary
    pfam11502
    Location:350388
    BCL9; B-cell lymphoma 9 protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    147541501..147626219
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005277418.4XP_005277475.1  B-cell CLL/lymphoma 9 protein isoform X3

    Conserved Domains (1) summary
    pfam11502
    Location:276314
    BCL9; B-cell lymphoma 9 protein
  2. XM_005277417.4XP_005277474.1  B-cell CLL/lymphoma 9 protein isoform X2

    Conserved Domains (1) summary
    pfam11502
    Location:350388
    BCL9; B-cell lymphoma 9 protein
  3. XM_005272971.4XP_005273028.1  B-cell CLL/lymphoma 9 protein isoform X1

    See identical proteins and their annotated locations for XP_005273028.1

    UniProtKB/Swiss-Prot
    O00512
    UniProtKB/TrEMBL
    A0A024QYY4
    Conserved Domains (1) summary
    pfam11502
    Location:350388
    BCL9; B-cell lymphoma 9 protein
  4. XM_017002026.1XP_016857515.1  B-cell CLL/lymphoma 9 protein isoform X3

    Conserved Domains (1) summary
    pfam11502
    Location:276314
    BCL9; B-cell lymphoma 9 protein
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