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Gene Gene information from NCBI Gene database.
Entrez ID 6117
Gene name Replication protein A1
Gene symbol RPA1
Synonyms (NCBI Gene)
HSSBMST075PFBMFT6REPA1RF-ARP-ARPA70
Chromosome 17
Chromosome location 17p13.3
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,
miRNA miRNA information provided by mirtarbase database.
200 Show/Hide all (200)
miRTarBase ID miRNA Experiments Reference
MIRT051422 hsa-let-7e-5p CLASH 23622248
MIRT049867 hsa-miR-31-5p CLASH 23622248
MIRT042750 hsa-miR-339-5p CLASH 23622248
MIRT039750 hsa-miR-615-3p CLASH 23622248
MIRT036052 hsa-miR-1301-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
71 Show/Hide all (71)
GO ID Ontology Definition Evidence Reference
GO:0000228 Component Nuclear chromosome IEA
GO:0000723 Process Telomere maintenance IC 16973897, 24747047, 26041456
GO:0000723 Process Telomere maintenance IMP 17959650
GO:0000723 Process Telomere maintenance NAS 17959650
GO:0000724 Process Double-strand break repair via homologous recombination IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
179835 10289 ENSG00000132383
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P27694
Protein name Replication protein A 70 kDa DNA-binding subunit (RP-A p70) (Replication factor A protein 1) (RF-A protein 1) (Single-stranded DNA-binding protein) [Cleaved into: Replication protein A 70 kDa DNA-binding subunit, N-terminally processed]
Protein function As part of the heterotrimeric replication protein A complex (RPA/RP-A), binds and stabilizes single-stranded DNA intermediates that form during DNA replication or upon DNA stress. It prevents their reannealing and in parallel, recruits and activ
PDB 1EWI , 1FGU , 1JMC , 1L1O , 2B29 , 2B3G , 4IJH , 4IJL , 4IPC , 4IPD , 4IPG , 4IPH , 4LUO , 4LUV , 4LUZ , 4LW1 , 4LWC , 4NB3 , 4O0A , 4R4C , 4R4I , 4R4O , 4R4Q , 4R4T , 5E7N , 5EAY , 5N85 , 5N8A , 7XUT , 7XUV , 7XUW , 7XV0 , 7XV1 , 7XV4 , 8JZV , 8JZY , 8K00 , 8RK2 , 9J1S , 9MJ5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01336 tRNA_anti-codon 197 → 286 OB-fold nucleic acid binding domain Domain
PF04057 Rep-A_N 5 → 104 Replication factor-A protein 1, N-terminal domain Domain
PF08646 Rep_fac-A_C 461 → 606 Replication factor-A C terminal domain Family
PF16900 REPA_OB_2 305 → 402 Replication protein A OB domain Domain
Sequence
Sequence length 616
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
DNA replication Translesion synthesis by REV1
Nucleotide excision repair Recognition of DNA damage by PCNA-containing replication complex
Mismatch repair Translesion Synthesis by POLH
Homologous recombination Removal of the Flap Intermediate from the C-strand
Fanconi anemia pathway Activation of ATR in response to replication stress
  SUMOylation of DNA damage response and repair proteins
  Regulation of HSF1-mediated heat shock response
  HSF1 activation
  Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
  Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
  PCNA-Dependent Long Patch Base Excision Repair
  Translesion synthesis by POLK
  Translesion synthesis by POLI
  Termination of translesion DNA synthesis
  HDR through Single Strand Annealing (SSA)
  HDR through Homologous Recombination (HRR)
  Processing of DNA double-strand break ends
  Presynaptic phase of homologous DNA pairing and strand exchange
  Formation of Incision Complex in GG-NER
  Gap-filling DNA repair synthesis and ligation in GG-NER
  Dual Incision in GG-NER
  Dual incision in TC-NER
  Gap-filling DNA repair synthesis and ligation in TC-NER
  Fanconi Anemia Pathway
  Regulation of TP53 Activity through Phosphorylation
  Activation of the pre-replicative complex
  Removal of the Flap Intermediate
  G2/M DNA damage checkpoint
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 Pathogenic rs916648829, rs570041689 RCV001843384
RCV001843385
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (13)
Phenotype Name Clinical Significance Source Reference Evidence Score
BIPOLAR DISORDER — GWAS catalog 31043756, 34002096
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHLORACNE — CTD, Disgenet
CTD, Disgenet
17101203
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
dyskeratosis congenita and related telomere biology disorder — ClinGen ClinGen report
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations