BRMS1L

BRMS1 Like Transcriptional Repressor

Gene Information Card

Symbol BRMS1L
Full Name BRMS1 Like Transcriptional Repressor
Gene Type protein-coding
Chromosomal Location 14q13.2
NCBI Gene ID 84312 ncbi.nlm.nih.gov/gene/84312
Ensembl ID ENSG00000100823
UniProt ID Q5VWQ0
OMIM ID 614692
HGNC ID 28338
Aliases BRMS1L, BRMS1-like, C14orf106, FLJ20533

Description

BRMS1L (BRMS1 Like Transcriptional Repressor) is a protein-coding gene located on chromosome 14q13.2. It encodes a component of the SIN3A histone deacetylase (HDAC) complex, involved in transcriptional repression. The protein shares homology with BRMS1 and is implicated in chromatin remodeling and gene silencing. BRMS1L is widely expressed in various tissues and may play a role in cancer metastasis suppression.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Breast cancer Potential tumor suppressor; loss of BRMS1L expression may promote metastasis Limited evidence from cell line studies; no direct OMIM or ClinVar entries
Melanoma Reduced expression correlates with increased metastatic potential Observational studies; not yet validated in large cohorts

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Brain 8.2 Low
Lung 6.1 Low
Liver 4.8 Low
Kidney 5.3 Low
Cell Line Expression
Cell Line nTPM Notes
HEK293 10.0 Moderate expression
MCF7 7.5 Breast cancer cell line
A549 6.0 Lung cancer cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G missense <0.1% Unknown functional impact
c.100C>T nonsense <0.1% Predicted loss of function
Mutation functional classification

Loss of Function (LOF)

Nonsense mutations may lead to truncated protein and loss of repressor activity.

Gain of Function (GOF)

No evidence for gain-of-function mutations.

Dominant Negative (DN)

Not reported.

Gene Ontology (GO)

• transcriptional repressor activity • chromatin binding
• histone deacetylase complex • negative regulation of transcription by RNA polymerase II
• nucleus

Pathways

• SIN3A/HDAC complex pathway
• Chromatin remodeling

Protein Summary

The BRMS1L protein is a 288-amino acid component of the SIN3A/HDAC transcriptional repression complex. It contains a coiled-coil domain and interacts with SIN3A to facilitate histone deacetylation and gene silencing. BRMS1L is localized to the nucleus and is thought to regulate genes involved in cell proliferation and metastasis. Its expression is reduced in some metastatic cancers, suggesting a tumor-suppressive role.

Related Products

Product name Cat.No. Species Gene ID
BRMS1L Knockout HEK293 Cell Line EDJ-KQ9274 Human 84312 Details Get a Quote
BRMS1L Knockout A-549 Cell Line EDJ-KQ37106 Human 84312 Details Get a Quote
BRMS1L Knockout HCT 116 Cell Line EDJ-KQ37107 Human 84312 Details Get a Quote
BRMS1L Knockout HeLa Cell Line EDJ-KQ37108 Human 84312 Details Get a Quote
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