RPA4: Replication Protein A4, a Subunit of the RPA Complex

A comprehensive overview of RPA4, its genomic context, expression, and potential role in DNA replication and repair.

Gene Information Card

Symbol RPA4
Full Name Replication Protein A4
Gene Type Protein coding
Chromosomal Location Xq21.33
NCBI Gene ID 29935 ncbi.nlm.nih.gov/gene/29935
Ensembl ID ENSG00000101981
UniProt ID Q9BWG4
OMIM ID 300510
HGNC ID 10291
Aliases RPA4, REPA4

Description

RPA4 encodes replication protein A4, a subunit of the heterotrimeric replication protein A (RPA) complex. RPA is essential for DNA replication, repair, and recombination by binding single-stranded DNA and coordinating the recruitment of other proteins. RPA4 is a paralog of RPA2 and can substitute for RPA2 in the RPA complex, potentially modulating its activity. The gene is located on chromosome X and is expressed in various tissues.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
No specific disease association reported Not applicable No direct evidence from ClinVar, OMIM, or COSMIC

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 5.2 Low
Lymph node 3.1 Low
Spleen 2.8 Low
Bone marrow 2.5 Low
Other tissues <2.0 Not detected
Cell Line Expression
Cell Line nTPM Notes
HEK293 3.5 Low expression
HeLa 2.9 Low expression
K562 2.1 Low expression
A549 1.8 Not detected
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
No pathogenic variants reported Not applicable Not applicable Not applicable
Mutation functional classification

Loss of Function (LOF)

No loss-of-function mutations documented in ClinVar or COSMIC.

Gain of Function (GOF)

No gain-of-function mutations documented.

Dominant Negative (DN)

No dominant-negative mutations documented.

Gene Ontology (GO)

• DNA binding • single-stranded DNA binding
• protein heterodimerization activity • DNA replication
• DNA repair • nucleotide-excision repair
• cellular response to DNA damage stimulus

Pathways

• DNA replication
• Homologous recombination
• Nucleotide excision repair
• Mismatch repair

Protein Summary

Replication protein A4 (RPA4) is a 32 kDa protein that forms a stable complex with RPA1 and RPA3, substituting for RPA2. The RPA complex binds single-stranded DNA with high affinity and is involved in DNA replication, repair, and recombination. RPA4 is expressed at low levels in a few tissues, primarily testis and lymphoid organs. Its function may be redundant with RPA2, but it could play a specialized role in certain cellular contexts.

Related Products

Product name Cat.No. Species Gene ID
RPA4 Knockout HEK293 Cell Line EDJ-KQ9090 Human 29935 Details Get a Quote
RPA4 Knockout HeLa Cell Line EDJ-KQ56124 Human 29935 Details Get a Quote
RPA4 Knockout A-549 Cell Line EDJ-KQ64610 Human 29935 Details Get a Quote
RPA4 Knockout HCT 116 Cell Line EDJ-KQ73062 Human 29935 Details Get a Quote
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