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BCL7C BAF chromatin remodeling complex subunit BCL7C [ Homo sapiens (human) ]

Gene ID: 9274, updated on 27-Nov-2024

Summary

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Official Symbol
BCL7Cprovided by HGNC
Official Full Name
BAF chromatin remodeling complex subunit BCL7Cprovided by HGNC
Primary source
HGNC:HGNC:1006
See related
Ensembl:ENSG00000099385 MIM:605847; AllianceGenome:HGNC:1006
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
SMARCJ3
Summary
This gene is identified by the similarity of its product to the N-terminal region of BCL7A protein. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. The function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
Expression
Ubiquitous expression in ovary (RPKM 5.5), endometrium (RPKM 4.7) and 25 other tissues See more
Orthologs
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Genomic context

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See BCL7C in Genome Data Viewer
Location:
16p11.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30833626..30894077, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31221122..31281535, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30844947..30905398, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10728 Neighboring gene zinc finger protein 629 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:30807171-30807374 Neighboring gene uncharacterized LOC124903679 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7394 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7395 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30824465-30825020 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30825021-30825575 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7396 Neighboring gene adipose secreted signaling protein pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10731 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30885309-30886064 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30886065-30886819 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30886820-30887574 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:30893961-30894461 Neighboring gene MIR762 host gene Neighboring gene microRNA 4519 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7398 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:30898777-30899278 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30904355-30904987 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7399 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30906599-30907104 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30907105-30907608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10736 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7400 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30915408-30915908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30915909-30916409 Neighboring gene microRNA 762 Neighboring gene cardiotrophin 1 Neighboring gene cardiotrophin 2, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. BCL7C suppresses ovarian cancer growth by inactivating mutant p53. Huang C, et al. J Mol Cell Biol, 2021 May 7. PMID 33306126, Free PMC Article
  2. 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 VJ, et al. Blood, 1996 Apr 15. PMID 8605326
  3. The BCL7 gene family: deletion of BCL7B in Williams syndrome. Jadayel DM, et al. Gene, 1998 Dec 11. PMID 9931421
  4. Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy. Kadoch C, et al. Nat Genet, 2013 Jun. PMID 23644491, Free PMC Article
  5. Risk of non-Hodgkin lymphoma associated with germline variation in genes that regulate the cell cycle, apoptosis, and lymphocyte development. Morton LM, et al. Cancer Epidemiol Biomarkers Prev, 2009 Apr. PMID 19336552, Free PMC Article

See all (49) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. BCL7C suppresses ovarian cancer growth by inactivating mutant p53.
    Title: BCL7C suppresses ovarian cancer growth by inactivating mutant p53.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in chromatin remodeling NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in negative regulation of cell differentiation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of cell population proliferation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of double-strand break repair NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of stem cell population maintenance NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of G0 to G1 transition NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of G1/S transition of mitotic cell cycle NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of mitotic metaphase/anaphase transition NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of nucleotide-excision repair NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of GBAF complex NAS
Non-traceable Author Statement
more info
 PubMed 
part_of SWI/SNF complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of SWI/SNF complex NAS
Non-traceable Author Statement
more info
 PubMed 
located_in chromatin NAS
Non-traceable Author Statement
more info
 PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
B-cell CLL/lymphoma 7 protein family member C
Names
B-cell CLL/lymphoma 7C
BCL tumor suppressor 7C
BCL7C, BAF complex component

NCBI Reference Sequences (RefSeq)

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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_001286526.2 → NP_001273455.1  B-cell CLL/lymphoma 7 protein family member C isoform 1

    See identical proteins and their annotated locations for NP_001273455.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC135048, AC138417, BC058863, BG055884
    Consensus CDS
    CCDS67012.1
    UniProtKB/Swiss-Prot
    Q8WUZ0
    Related
    ENSP00000369674.4, ENST00000380317.8
    Conserved Domains (1) summary
    pfam04714
    Location:4 → 50
    BCL_N; BCL7, N-terminal conserver region

  2. NM_004765.4 → NP_004756.2  B-cell CLL/lymphoma 7 protein family member C isoform 2

    See identical proteins and their annotated locations for NP_004756.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    BC019071, BC058863
    Consensus CDS
    CCDS10693.1
    UniProtKB/Swiss-Prot
    O43770, Q6PD89, Q8WUZ0
    Related
    ENSP00000215115.4, ENST00000215115.5
    Conserved Domains (1) summary
    pfam04714
    Location:4 → 50
    BCL_N; BCL7, N-terminal conserver region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    30833626..30894077 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047434898.1 → XP_047290854.1  B-cell CLL/lymphoma 7 protein family member C isoform X4

  2. XM_047434897.1 → XP_047290853.1  B-cell CLL/lymphoma 7 protein family member C isoform X3

  3. XM_011545980.4 → XP_011544282.1  B-cell CLL/lymphoma 7 protein family member C isoform X2

    UniProtKB/TrEMBL
    I3L1Q2
    Related
    ENSP00000459007.1, ENST00000572628.5
    Conserved Domains (1) summary
    pfam04714
    Location:4 → 50
    BCL_N; BCL7, N-terminal conserver region

  4. XM_047434896.1 → XP_047290852.1  B-cell CLL/lymphoma 7 protein family member C isoform X1

  5. XM_047434899.1 → XP_047290855.1  B-cell CLL/lymphoma 7 protein family member C isoform X5

  6. XM_047434900.1 → XP_047290856.1  B-cell CLL/lymphoma 7 protein family member C isoform X6

    Related
    ENSP00000461177.1, ENST00000574418.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    31221122..31281535 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054314372.1 → XP_054170347.1  B-cell CLL/lymphoma 7 protein family member C isoform X2

  2. XM_054314374.1 → XP_054170349.1  B-cell CLL/lymphoma 7 protein family member C isoform X4

  3. XM_054314373.1 → XP_054170348.1  B-cell CLL/lymphoma 7 protein family member C isoform X3

  4. XM_054314371.1 → XP_054170346.1  B-cell CLL/lymphoma 7 protein family member C isoform X1

  5. XM_054314375.1 → XP_054170350.1  B-cell CLL/lymphoma 7 protein family member C isoform X7

  6. XM_054314376.1 → XP_054170351.1  B-cell CLL/lymphoma 7 protein family member C isoform X5

  7. XM_054314377.1 → XP_054170352.1  B-cell CLL/lymphoma 7 protein family member C isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WUZ0.3 GenPept UniProtKB/Swiss-Prot:Q8WUZ0

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