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Aliases for RPAIN Gene

Aliases for RPAIN Gene

  • RPA Interacting Protein 2 3 5
  • HRIP 3 4
  • RIP 3 4
  • RAP Interaction Protein 3
  • RPA-Interacting Protein 3
  • Nuclear Transporter 3

External Ids for RPAIN Gene

Previous GeneCards Identifiers for RPAIN Gene

  • GC17P005263

Summaries for RPAIN Gene

GeneCards Summary for RPAIN Gene

RPAIN (RPA Interacting Protein) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include protein complex binding.

UniProtKB/Swiss-Prot for RPAIN Gene

  • Mediates the import of RPA complex into the nucleus, possibly via some interaction with importin beta. Isoform 2 is sumoylated and mediates the localization of RPA complex into the PML body of the nucleus, thereby participating in RPA function in DNA metabolism.

Gene Wiki entry for RPAIN Gene

Additional gene information for RPAIN Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPAIN Gene

Genomics for RPAIN Gene

GeneHancer (GH) Regulatory Elements for RPAIN Gene

Promoters and enhancers for RPAIN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I005416 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 591.1 -0.7 -690 4.7 HDGF PKNOX1 SMAD1 ARID4B SIN3A FEZF1 DMAP1 ZBTB7B IRF4 YY1 RPAIN NUP88 RABEP1 ZNF594 ENSG00000263272 ENSG00000263220 C1QBP DHX33 PELP1 LOC101927979
GH17I005437 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 33.6 +19.1 19105 2.8 CLOCK ARID4B NEUROD1 SIN3A DMAP1 IRF4 ZNF213 E2F8 ZNF207 ZNF143 C1QBP LOC101927979 RPAIN ZNF232 DERL2 MIS12 ENSG00000263272 MYBBP1A LOC100130950 NUP88
GH17I005191 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 31.5 -227.7 -227740 1.8 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 POLR2B ZNF213 ZNF594 LOC100130950 LOC101927979 RPAIN ZNF232 ANKFY1 MIS12 PELP1 RABEP1 DERL2
GH17I004553 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 24.4 -864.6 -864565 2.6 HDGF SMAD1 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B ZNF213 ZNF207 MYBBP1A RPAIN ANKFY1 LOC100130950 DHX33 ZNF232 LOC101927979 GGT6 ENSG00000263220 ZNF594
GH17I005466 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 23.1 +48.6 48582 3 HDGF CLOCK MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 DHX33 LOC105371506 RPAIN NUP88 DERL2 ZNF594 RABEP1 MIS12 LOC100130950 PELP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RPAIN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RPAIN gene promoter:

Genomic Locations for RPAIN Gene

Genomic Locations for RPAIN Gene
chr17:5,419,641-5,433,020
(GRCh38/hg38)
Size:
13,380 bases
Orientation:
Plus strand
chr17:5,322,961-5,336,340
(GRCh37/hg19)

Genomic View for RPAIN Gene

Genes around RPAIN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPAIN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPAIN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPAIN Gene

Proteins for RPAIN Gene

  • Protein details for RPAIN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86UA6-RIP_HUMAN
    Recommended name:
    RPA-interacting protein
    Protein Accession:
    Q86UA6
    Secondary Accessions:
    • B4DI36
    • B4DTX7
    • E9PES3
    • J3KNH8
    • Q4G2Y0
    • Q4G2Y5
    • Q4G2Y8
    • Q6B4V9
    • Q6B4W0
    • Q6B4W1
    • Q6B4W4
    • Q86X49
    • Q9BT00

    Protein attributes for RPAIN Gene

    Size:
    219 amino acids
    Molecular mass:
    24784 Da
    Quaternary structure:
    • Interacts with the RPA1 subunit of RPA complex.

    Alternative splice isoforms for RPAIN Gene

neXtProt entry for RPAIN Gene

Post-translational modifications for RPAIN Gene

  • Isoform 2 is sumoylated. Sumoylation is required for localization in the nuclear PML body and transport of RPA complex in PML body. Upon UV irradiation and during S phase, it is desumoylated, releasing RPA complex that is translocated to sites of DNA damage. Sumoylation takes place at different Lys residues.
  • Ubiquitination at isoforms=2, 3, 4, 5, 6, 7, 8, 914 and isoforms=8171

No data available for DME Specific Peptides for RPAIN Gene

Domains & Families for RPAIN Gene

Gene Families for RPAIN Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RPAIN Gene

Suggested Antigen Peptide Sequences for RPAIN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RPAIN: view

No data available for UniProtKB/Swiss-Prot for RPAIN Gene

Function for RPAIN Gene

Molecular function for RPAIN Gene

UniProtKB/Swiss-Prot Function:
Mediates the import of RPA complex into the nucleus, possibly via some interaction with importin beta. Isoform 2 is sumoylated and mediates the localization of RPA complex into the PML body of the nucleus, thereby participating in RPA function in DNA metabolism.

Phenotypes From GWAS Catalog for RPAIN Gene

Gene Ontology (GO) - Molecular Function for RPAIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032403 protein complex binding IPI 16135809
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RPAIN: view
genes like me logo Genes that share phenotypes with RPAIN: view

Animal Model Products

CRISPR Products

miRNA for RPAIN Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RPAIN Gene

Localization for RPAIN Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPAIN Gene

Isoform 1: Cytoplasm. Nucleus.
Isoform 2: Nucleus, PML body.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RPAIN gene
Compartment Confidence
nucleus 5
extracellular 2
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (3)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RPAIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IEA --
GO:0016605 PML body IEA --
genes like me logo Genes that share ontologies with RPAIN: view

Pathways & Interactions for RPAIN Gene

SuperPathways for RPAIN Gene

No Data Available

Pathways by source for RPAIN Gene

1 GeneTex pathway for RPAIN Gene

Gene Ontology (GO) - Biological Process for RPAIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006261 DNA-dependent DNA replication IPI 16135809
GO:0006281 DNA repair IPI 16135809
GO:0006310 DNA recombination IPI 16135809
GO:0006606 protein import into nucleus IDA 16135809
genes like me logo Genes that share ontologies with RPAIN: view

No data available for SIGNOR curated interactions for RPAIN Gene

Drugs & Compounds for RPAIN Gene

No Compound Related Data Available

Transcripts for RPAIN Gene

Unigene Clusters for RPAIN Gene

RPA interacting protein:
Representative Sequences:

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RPAIN Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b
SP1: - -
SP2: - - -
SP3: - - -
SP4: -
SP5:

Relevant External Links for RPAIN Gene

GeneLoc Exon Structure for
RPAIN
ECgene alternative splicing isoforms for
RPAIN

Expression for RPAIN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RPAIN Gene

Protein differential expression in normal tissues from HIPED for RPAIN Gene

This gene is overexpressed in Breast (49.5) and CD4 Tcells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RPAIN Gene



Protein tissue co-expression partners for RPAIN Gene

NURSA nuclear receptor signaling pathways regulating expression of RPAIN Gene:

RPAIN

SOURCE GeneReport for Unigene cluster for RPAIN Gene:

Hs.462086

mRNA Expression by UniProt/SwissProt for RPAIN Gene:

Q86UA6-RIP_HUMAN
Tissue specificity: Widely expressed. Expressed in pancreas, kidney, muscle, liver, lung, placenta, brain, heart, leukocytes, colon, intestine, ovary, testis, prostate, thymus and spleen.

Evidence on tissue expression from TISSUES for RPAIN Gene

  • Nervous system(4.6)
  • Eye(4.2)
genes like me logo Genes that share expression patterns with RPAIN: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RPAIN Gene

Orthologs for RPAIN Gene

This gene was present in the common ancestor of chordates.

Orthologs for RPAIN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RPAIN 33 34
  • 99.85 (n)
cow
(Bos Taurus)
Mammalia RPAIN 33 34
  • 86.15 (n)
dog
(Canis familiaris)
Mammalia RPAIN 33 34
  • 79.97 (n)
rat
(Rattus norvegicus)
Mammalia Rpain 33
  • 79.78 (n)
mouse
(Mus musculus)
Mammalia Rpain 33 16 34
  • 78.54 (n)
oppossum
(Monodelphis domestica)
Mammalia RPAIN 34
  • 45 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RPAIN 34
  • 36 (a)
OneToOne
chicken
(Gallus gallus)
Aves RPAIN 33 34
  • 63.05 (n)
lizard
(Anolis carolinensis)
Reptilia RPAIN 34
  • 41 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rpain 33
  • 54.6 (n)
zebrafish
(Danio rerio)
Actinopterygii rpain 33 34
  • 53.59 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3881 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 25 (a)
OneToOne
Species where no ortholog for RPAIN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RPAIN Gene

ENSEMBL:
Gene Tree for RPAIN (if available)
TreeFam:
Gene Tree for RPAIN (if available)

Paralogs for RPAIN Gene

No data available for Paralogs for RPAIN Gene

Variants for RPAIN Gene

Sequence variations from dbSNP and Humsavar for RPAIN Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs767427194 pathogenic, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 5,433,380(+) G/C downstream_transcript_variant
rs1000497587 -- 5,429,078(+) CATTAACATT/CATT 3_prime_UTR_variant, intron_variant, non_coding_transcript_variant
rs1000595902 -- 5,429,664(+) A/G 3_prime_UTR_variant, intron_variant, non_coding_transcript_variant
rs1000649961 -- 5,429,276(+) C/T 3_prime_UTR_variant, intron_variant, non_coding_transcript_variant
rs1000811065 -- 5,422,386(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RPAIN Gene

Variant ID Type Subtype PubMed ID
nsv574273 CNV gain 21841781
nsv474934 CNV novel sequence insertion 20440878

Variation tolerance for RPAIN Gene

Residual Variation Intolerance Score: 58.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.50; 71.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RPAIN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPAIN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPAIN Gene

Disorders for RPAIN Gene

Additional Disease Information for RPAIN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for RPAIN Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RPAIN Gene

Publications for RPAIN Gene

  1. Sumoylation of the novel protein hRIP{beta} is involved in replication protein A deposition in PML nuclear bodies. (PMID: 16135809) Park J … Choe J (Molecular and cellular biology 2005) 2 3 4 22 58
  2. Identification, expression pattern, and subcellular location of human RIP isoforms. (PMID: 16008515) Chen JZ … Xue JL (DNA and cell biology 2005) 2 3 4 22 58
  3. Determination of genetic predisposition to patent ductus arteriosus in preterm infants. (PMID: 19336370) Dagle JM … Murray JC (Pediatrics 2009) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for RPAIN Gene

Sources for RPAIN Gene

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