RPA4 replication protein A4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RPA4provided by HGNC
Official Full Name: replication protein A4provided by HGNC
Primary source: HGNC:HGNC:30305
See related: Ensembl:ENSG00000204086 MIM:300767; AllianceGenome:HGNC:30305
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: HSU24186
Summary: This gene encodes a single-stranded DNA-binding protein that is the 30-kDa subunit of the replication protein A complex. Replication protein A is an essential factor for DNA double-strand break repair and cell cycle checkpoint activation. The encoded protein localizes to DNA repair foci and may be involved in the cellular DNA damage response. This protein may also play a role in inhibiting viral replication.[provided by RefSeq, Apr 2010]
Orthologs: mouse all
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Genomic context

Location:: Xq21.33

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (96883908..96885467)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (95323189..95324748)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (96138907..96140466)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Findings provide the first direct evidence for the function of alternative form of RPA in human DNA metabolism and support a model for aRPA functioning in chromosome maintenance functions in nonproliferating cells.
Title: An alternative form of replication protein a expressed in normal human tissues supports DNA repair.
Results suggest that RPA4 cannot support cell proliferation but can support processes that maintain the genomic integrity of the cell.
Title: A naturally occurring human RPA subunit homolog does not support DNA replication or cell-cycle progression.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic susceptibility to distinct bladder cancer subphenotypes.
Hyperphosphorylated replication protein A is preferentially localized to double-stranded break repair and the DNA damage checkpoint complexes in response to DNA damage.
Title: Preferential localization of hyperphosphorylated replication protein A to double-strand break repair and checkpoint complexes upon DNA damage.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
reverse transcriptase	gag-pol	Replication protein A and HIV-1 nucleocapsid protein interfere with the strand displacement DNA synthesis of HIV-1 reverse transcriptase by binding to the displaced strand and keeping it away from the newly synthesized strand	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:484639

RH70584 (e-PCR)
- UniSTS:34258

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables telomeric DNA binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in DNA damage checkpoint signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA repair	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA replication	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA replication initiation	TAS Traceable Author Statement more info	PubMed
involved_in double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info
NOT involved_in nuclear DNA replication	IDA Inferred from Direct Assay more info	PubMed
involved_in nucleotide-excision repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in nucleotide-excision repair	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of DNA replication factor A complex	IBA Inferred from Biological aspect of Ancestor more info
part_of DNA replication factor A complex	IDA Inferred from Direct Assay more info	PubMed
part_of DNA replication factor A complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in chromosome, telomeric region	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in site of double-strand break	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: replication protein A 30 kDa subunit

Names: RF-A protein 4; RP-A p30; replication factor A protein 4; replication protein A complex 34 kd subunit homolog Rpa4; replication protein A4, 30kDa; replication protein A4, 34kDa

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.

Genomic

NG_013259.2 RefSeqGene

Range

4896..6455

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_013347.4 → NP_037479.1 replication protein A 30 kDa subunit

See identical proteins and their annotated locations for NP_037479.1

Status: REVIEWED

Source sequence(s)

BC069791, U24186, Z86061

Consensus CDS

CCDS35345.1

UniProtKB/Swiss-Prot

Q13156, Q3SY03

Related

ENSP00000362131.3, ENST00000373040.4

Conserved Domains (2) summary

cd04478
Location:73 → 166

RPA2_DBD_D; RPA2_DBD_D: A subfamily of OB folds corresponding to the OB fold of the central ssDNA-binding domain (DBD)-D of human RPA2 (also called RPA32). RPA2 is a subunit of Replication protein A (RPA). RPA is a nuclear ssDNA-binding protein (SSB) which appears ...

cl27871
Location:32 → 259

RPA_C; Replication protein A C terminal