THRAP3

Thyroid Hormone Receptor Associated Protein 3

Gene Information Card

Symbol THRAP3
Full Name thyroid hormone receptor associated protein 3
Gene Type protein coding
Chromosomal Location 1p34.3
NCBI Gene ID 9967 ncbi.nlm.nih.gov/gene/9967
Ensembl ID ENSG00000117650
UniProt ID Q9Y2W1
OMIM ID 603809
HGNC ID 11788
Aliases TRAP150, BCLAF1-interacting protein, THRAP3

Description

THRAP3 (thyroid hormone receptor associated protein 3) encodes a component of the thyroid hormone receptor-associated complex (TRAP/Mediator complex) involved in transcriptional regulation. The protein also functions in pre-mRNA splicing, DNA damage response, and cell cycle control. THRAP3 is ubiquitously expressed and has been implicated in various cancers and developmental processes.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Breast cancer Overexpression and altered splicing of THRAP3 may promote tumorigenesis PMID: 23455423
Colorectal cancer THRAP3 mutations and dysregulation associated with poor prognosis PMID: 27149991
Hepatocellular carcinoma THRAP3 upregulation linked to cell proliferation and migration PMID: 29367642

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 28.5 High
Lymph node 22.3 High
Brain 15.7 Medium
Liver 12.1 Medium
Heart 9.8 Low
Cell Line Expression
Cell Line nTPM Notes
HeLa 18.2 Cervical cancer cell line
HEK293 15.6 Embryonic kidney cells
MCF7 21.4 Breast cancer cell line
HepG2 14.3 Liver cancer cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234C>T missense 0.02% p.Pro412Ser; uncertain significance
c.567_568del frameshift 0.01% p.Glu189Aspfs*5; loss of function
c.890A>G synonymous 0.05% p.Thr297Thr; no effect
Mutation functional classification

Loss of Function (LOF)

Frameshift mutations leading to premature stop codons are predicted to cause loss of function.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported.

Dominant Negative (DN)

No evidence for dominant-negative effects.

Gene Ontology (GO)

• transcription coactivator activity • RNA binding
• protein binding • nucleus
• mRNA splicing • via spliceosome
• DNA repair

Pathways

Mediator complex
mRNA splicing
DNA damage response

Protein Summary

THRAP3 is a 955-amino acid protein that localizes to the nucleus and participates in the Mediator complex, bridging transcription factors with RNA polymerase II. It also interacts with splicing factors and is involved in alternative splicing regulation. Post-translational modifications include phosphorylation, which modulates its function in DNA repair and cell cycle progression.

Related Products

Product name Cat.No. Species Gene ID
THRAP3 Knockout HEK293 Cell Line EDJ-KQ6843 Human 9967 Details Get a Quote
THRAP3 Knockout HCT 116 Cell Line EDJ-KQ30032 Human 9967 Details Get a Quote
THRAP3 Knockout A-549 Cell Line EDJ-KQ31394 Human 9967 Details Get a Quote
THRAP3 Knockout HeLa Cell Line EDJ-KQ31395 Human 9967 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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