RPA1 replication protein A1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RPA1provided by HGNC
Official Full Name: replication protein A1provided by HGNC
Primary source: HGNC:HGNC:10289
See related: Ensembl:ENSG00000132383 MIM:179835; AllianceGenome:HGNC:10289
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: HSSB; RF-A; RP-A; REPA1; RPA70; MST075; PFBMFT6
Summary: This gene encodes the largest subunit of the heterotrimeric Replication Protein A (RPA) complex, which binds to single-stranded DNA (ssDNA), forming a nucleoprotein complex that plays an important role in DNA metabolism, being involved in DNA replication, repair, recombination, telomere maintenance, and co-ordinating the cellular response to DNA damage through activation of the ataxia telangiectasia and Rad3-related protein (ATR) kinase. The nucleoprotein complex protects the single-stranded DNA from nucleases, prevents formation of secondary structures that would interfere with repair, and co-ordinates the recruitment and departure of different genome maintenance factors. This subunit contains four oligonucleotide/oligosaccharide-binding (OB) domains, though the majority of ssDNA binding occurs in two of these domains. The heterotrimeric complex has two different modes of ssDNA binding, a low-affinity and high-affinity mode, determined by which ssDNA binding domains are utilized. The different binding modes differ in the length of DNA bound and in the proteins with which it interacts, thereby playing a role in regulating different genomic maintenance pathways. [provided by RefSeq, Sep 2017]
Expression: Ubiquitous expression in lymph node (RPKM 21.6), ovary (RPKM 19.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.3

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (1830005..1900082)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (1718730..1788877)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (1733299..1803376)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The RPA-RNF20-SNF2H cascade promotes proper chromosome segregation and homologous recombination repair.
Title: The RPA-RNF20-SNF2H cascade promotes proper chromosome segregation and homologous recombination repair.
PRIMPOL competes with RAD51 to resolve G-quadruplex-induced replication stress via its interaction with RPA.
Title: PRIMPOL competes with RAD51 to resolve G-quadruplex-induced replication stress via its interaction with RPA.
The Roles of EXO1 and RPA1 Polymorphisms in Prognosis of Lung Cancer Patients Treated with Platinum-Based Chemotherapy.
Title: The Roles of EXO1 and RPA1 Polymorphisms in Prognosis of Lung Cancer Patients Treated with Platinum-Based Chemotherapy.
WASp modulates RPA function on single-stranded DNA in response to replication stress and DNA damage.
Title: WASp modulates RPA function on single-stranded DNA in response to replication stress and DNA damage.
Replication protein A associates with nucleolar R loops and regulates rRNA transcription and nucleolar morphology.
Title: Replication protein A associates with nucleolar R loops and regulates rRNA transcription and nucleolar morphology.
Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue.
Title: Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue.
[Effects of RPA1 down-regulation on the invasion and migration and cell cycle of human nasopharyngeal carcinoma CNE-2R cells with radio resistance].
Title: [Effects of RPA1 down-regulation on the invasion and migration and cell cycle of human nasopharyngeal carcinoma CNE-2R cells with radio resistance].
The meiosis-specific MEIOB-SPATA22 complex cooperates with RPA to form a compacted mixed MEIOB/SPATA22/RPA/ssDNA complex.
Title: The meiosis-specific MEIOB-SPATA22 complex cooperates with RPA to form a compacted mixed MEIOB/SPATA22/RPA/ssDNA complex.
RPA shields inherited DNA lesions for post-mitotic DNA synthesis.
Title: RPA shields inherited DNA lesions for post-mitotic DNA synthesis.
PCNA Monoubiquitination Is Regulated by Diffusion of Rad6/Rad18 Complexes along RPA Filaments.
Title: PCNA Monoubiquitination Is Regulated by Diffusion of Rad6/Rad18 Complexes along RPA Filaments.

Submit: New GeneRIF Correction See all GeneRIFs (167)

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

Associated conditions

Description	Tests
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 MedGen: C5676927 OMIM: 619767 GeneReviews: Dyskeratosis Congenita and Related Telomere Biology Disorders	not available

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
Tat	tat	HIV-1 Tat interacts with the RNA polymerase II holoenzyme, which includes RPA, during Tat-mediated transactivation of the HIV-1 LTR	PubMed
Vpr	vpr	HIV-1 Vpr-induced activation of ATR increases the chromatin binding of replication protein A (RPA)	PubMed
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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S1427E (e-PCR)
- UniSTS:56339

RH17723 (e-PCR)
- UniSTS:64805

WI-20954 (e-PCR)
- UniSTS:19247

RPA1_1165 (e-PCR)
- UniSTS:462923

RH76450 (e-PCR)
- UniSTS:92759

RH65492 (e-PCR)
- UniSTS:91228

RH18502 (e-PCR)
- UniSTS:18014

G29183 (e-PCR)
- UniSTS:81526

D17S2106 (e-PCR)
- UniSTS:10117

G62062 (e-PCR)
- UniSTS:139176

RH93214 (e-PCR)
- UniSTS:83638

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G-rich strand telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables G-rich strand telomeric DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables damaged DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables damaged DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables single-stranded telomeric DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA recombination	TAS Traceable Author Statement more info	PubMed
involved_in DNA repair	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA replication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA replication	NAS Non-traceable Author Statement more info	PubMed
involved_in DNA-templated DNA replication	TAS Traceable Author Statement more info	PubMed
involved_in base-excision repair	IDA Inferred from Direct Assay more info	PubMed
involved_in double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in double-strand break repair via homologous recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair via homologous recombination	NAS Non-traceable Author Statement more info	PubMed
involved_in meiotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in mismatch repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nucleotide-excision repair	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in nucleotide-excision repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nucleotide-excision repair	NAS Non-traceable Author Statement more info	PubMed
involved_in protein localization to chromosome	IDA Inferred from Direct Assay more info	PubMed
involved_in telomere maintenance	IC Inferred by Curator more info	PubMed
involved_in telomere maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomere maintenance	NAS Non-traceable Author Statement more info	PubMed
involved_in telomere maintenance via telomerase	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
part_of DNA replication factor A complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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
colocalizes_with PML body	IDA Inferred from Direct Assay more info	PubMed
located_in PML body	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome, telomeric region	HDA more info	PubMed
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
located_in site of DNA damage	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: replication protein A 70 kDa DNA-binding subunit

Names: MSTP075; RF-A protein 1; RP-A p70; replication factor A protein 1; replication protein A1, 70kDa; single-stranded DNA-binding protein

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.

mRNA and Protein(s)

NM_001355120.2 → NP_001342049.1 replication protein A 70 kDa DNA-binding subunit isoform 2

Status: REVIEWED

Source sequence(s)

AC130689, AW966691, BC018126, BM666146, BP364363, BP432249, BQ004759, BX110398, M63488, R56356

Conserved Domains (1) summary

TIGR00617
Location:1 → 599

rpa1; replication factor-a protein 1 (rpa1)
NM_001355121.2 → NP_001342050.1 replication protein A 70 kDa DNA-binding subunit isoform 3

Status: REVIEWED

Source sequence(s)

AC130689, AW966691, BC018126, BM666146, BP432249, BQ004759, BX110398, CX871238, M63488, R56356

Conserved Domains (1) summary

cl28407
Location:2 → 553

RFA1; ssDNA-binding replication factor A, large subunit [Replication, recombination and repair]
NM_002945.5 → NP_002936.1 replication protein A 70 kDa DNA-binding subunit isoform 1

See identical proteins and their annotated locations for NP_002936.1

Status: REVIEWED

Source sequence(s)

AC130689, AW966691, BC018126, BM666146, BP432249, BQ004759, BX110398, M63488, R56356

Consensus CDS

CCDS11014.1

UniProtKB/Swiss-Prot

P27694, Q59ES9

Related

ENSP00000254719.4, ENST00000254719.10

Conserved Domains (5) summary

cd04474
Location:186 → 288

RPA1_DBD_A; RPA1_DBD_A: A subfamily of OB folds corresponding to the second OB fold, the ssDNA-binding domain (DBD)-A, of human RPA1 (also called RPA70). RPA1 is the large subunit of Replication protein A (RPA). RPA is a nuclear ssDNA-binding protein (SSB) which ...

TIGR00617
Location:2 → 612

rpa1; replication factor-a protein 1 (rpa1)

pfam04057
Location:5 → 104

Rep-A_N; Replication factor-A protein 1, N-terminal domain

pfam08646
Location:461 → 606

Rep_fac-A_C; Replication factor-A C terminal domain

pfam16900
Location:305 → 402

REPA_OB_2; Replication protein A OB domain