MTA3: Metastasis Associated 1 Family Member 3

A core component of the NuRD chromatin remodeling complex involved in transcriptional repression and cancer progression.

Gene Information Card

Symbol MTA3
Full Name Metastasis Associated 1 Family Member 3
Gene Type Protein coding
Chromosomal Location 2p21
NCBI Gene ID 57504 ncbi.nlm.nih.gov/gene/57504
Ensembl ID ENSG00000115970
UniProt ID Q9BTC8
OMIM ID 609050
HGNC ID 7411
Aliases KIAA1266, MTA1L1

Description

MTA3 (Metastasis Associated 1 Family Member 3) encodes a protein that is a core component of the nucleosome remodeling and deacetylase (NuRD) complex. This complex mediates ATP-dependent chromatin remodeling and histone deacetylase activity, playing a key role in transcriptional repression. MTA3 is involved in cell differentiation, proliferation, and migration, and its dysregulation is associated with various cancers, particularly breast cancer.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Breast Cancer MTA3 represses Snail transcription, maintaining epithelial phenotype; loss promotes EMT and metastasis. PMID: 16642020
Endometrial Cancer MTA3 overexpression correlates with tumor grade and invasion. PMID: 23429704
Gastric Cancer MTA3 downregulation associated with poor prognosis and increased metastasis. PMID: 25944712

Expression Profile

Tissue Expression
Tissue nTPM level
Breast 12.5 Medium
Endometrium 15.3 Medium
Lung 8.7 Low
Liver 6.2 Low
Brain 4.1 Not detected
Cell Line Expression
Cell Line nTPM Notes
MCF7 18.2 Breast cancer cell line
HeLa 22.5 Cervical cancer cell line
A549 9.8 Lung cancer cell line
HepG2 7.3 Liver cancer cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1012C>T Missense 0.02% p.Arg338Trp; potential loss of function
c.1456_1457del Frameshift 0.01% p.Glu486fs; truncation, likely loss of function
c.789G>A Synonymous 0.05% p.Pro263Pro; no amino acid change
Mutation functional classification

Loss of Function (LOF)

Frameshift and nonsense mutations that truncate the protein or disrupt the SANT domain are predicted to impair NuRD complex assembly and transcriptional repression.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported in MTA3.

Dominant Negative (DN)

Missense mutations in the ELM2 domain may interfere with NuRD complex function in a dominant-negative manner, though evidence is limited.

Pathways

• NuRD complex pathway (Reactome: R-HSA-3214847)
• Chromatin modifying enzymes (KEGG: hsa05200)

Protein Summary

MTA3 is a 594-amino acid protein containing a BAH domain, an ELM2 domain, and a SANT domain. It functions as a scaffold within the NuRD complex, linking histone deacetylase and chromatin remodeling activities. MTA3 is highly expressed in hormone-responsive tissues and plays a critical role in maintaining epithelial differentiation by repressing Snail transcription. Its loss is associated with epithelial-mesenchymal transition and cancer metastasis.

Related Products

Product name Cat.No. Species Gene ID
MTA3 Knockout HEK293 Cell Line EDJ-KQ14326 Human 57504 Details Get a Quote
MTA3 Knockout A-549 Cell Line EDJ-KQ44421 Human 57504 Details Get a Quote
MTA3 Knockout HCT 116 Cell Line EDJ-KQ44422 Human 57504 Details Get a Quote
MTA3 Knockout HeLa Cell Line EDJ-KQ44423 Human 57504 Details Get a Quote
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