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

Gene ID: 9274, updated on 2-Nov-2024

Summary

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

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

Expression

  • Project title: HPA RNA-seq normal tissues 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

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

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_001286526.2NP_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:450
    BCL_N; BCL7, N-terminal conserver region
  2. NM_004765.4NP_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:450
    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_047434898.1XP_047290854.1  B-cell CLL/lymphoma 7 protein family member C isoform X4

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

  3. XM_011545980.4XP_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:450
    BCL_N; BCL7, N-terminal conserver region
  4. XM_047434896.1XP_047290852.1  B-cell CLL/lymphoma 7 protein family member C isoform X1

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

  6. XM_047434900.1XP_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_054314372.1XP_054170347.1  B-cell CLL/lymphoma 7 protein family member C isoform X2

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

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

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

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

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

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