RMI1 is a component of protein complexes that limit DNA crossover formation via the dissolution of double Holliday junctions (Raynard et al., 2006 [PubMed 16595695]).[supplied by OMIM, Mar 2008] See more...

Aliases for RMI1 Gene

Aliases for RMI1 Gene

  • RecQ Mediated Genome Instability 1 2 3 5
  • BLAP75 2 3 4
  • RecQ-Mediated Genome Instability Protein 1 3 4
  • BLM-Associated Polypeptide, 75 KDa 2 3
  • C9orf76 3 4
  • FAAP75 3 4
  • RMI1, RecQ Mediated Genome Instability 1, Homolog (S. Cerevisiae) 2
  • Homolog Of Yeast RecQ-Mediated Genome Instability 1 (RMI1) 3
  • RMI1, RecQ Mediated Genome Instability 1, Homolog 3
  • Chromosome 9 Open Reading Frame 76 2
  • BLM-Associated Protein Of 75 KDa 4
  • BLM-Associated Protein 75 KDa 3
  • FLJ12888 2
  • RMI1 5

External Ids for RMI1 Gene

Previous HGNC Symbols for RMI1 Gene

  • C9orf76

Previous GeneCards Identifiers for RMI1 Gene

  • GC09P085786
  • GC09P086595
  • GC09P056421

Summaries for RMI1 Gene

Entrez Gene Summary for RMI1 Gene

  • RMI1 is a component of protein complexes that limit DNA crossover formation via the dissolution of double Holliday junctions (Raynard et al., 2006 [PubMed 16595695]).[supplied by OMIM, Mar 2008]

GeneCards Summary for RMI1 Gene

RMI1 (RecQ Mediated Genome Instability 1) is a Protein Coding gene. Diseases associated with RMI1 include Bloom Syndrome and Baller-Gerold Syndrome. Among its related pathways are DNA Double-Strand Break Repair and Cell Cycle, Mitotic.

UniProtKB/Swiss-Prot Summary for RMI1 Gene

  • Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates to limit DNA crossover formation in cells. Promotes TOP3A binding to double Holliday junctions (DHJ) and hence stimulates TOP3A-mediated dissolution. Required for BLM phosphorylation during mitosis. Within the BLM complex, required for BLM and TOP3A stability.

Gene Wiki entry for RMI1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RMI1 Gene

Genomics for RMI1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RMI1 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
GH09J083977 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 257.4 -0.6 -558 6.8 BCLAF1 SP1 ZNF207 NCOR1 MYC IKZF1 ZNF600 SSRP1 ZMYM3 KLF9 HNRNPK RMI1 KIF27 C9orf64 ENSG00000233262 IDNK UBQLN1-AS1 GKAP1 HSALNG0072298
GH09J083955 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 6.8 -23.8 -23797 2.5 ZNF592 KLF9 CEBPA ZNF10 ATF3 CHD4 ZBTB10 YY1 CEBPB SMAD5 C9orf64 HSALNG0072292 lnc-RMI1-9 UBQLN1-AS1 RMI1 KIF27
GH09J083959 Enhancer 0.7 Ensembl ENCODE 18.1 -21.2 -21158 1.2 ZNF511 TEAD3 JUND MAFF ZNF384 ZXDB ZNF629 PRDM10 EP300 WT1 RMI1 HNRNPK KIF27 ENSG00000233262 C9orf64 HSALNG0072294
GH09J083986 Enhancer 1.2 ENCODE dbSUPER 7.2 +7.3 7313 3.1 MYC ZNF600 NCOR1 IKZF1 ZNF580 ZNF592 KLF9 CEBPA CHD4 YY1 NTRK2 KIF27 RMI1 HNRNPK ENSG00000202523 SLC28A3
GH09J083961 Enhancer 1 Ensembl ENCODE 6 -18.4 -18358 2.4 ZNF600 CEBPA ZIC2 YY1 CEBPB FEZF1 KLF7 ZNF217 EP300 ELF1 KIF27 ENSG00000233262 IDNK RMI1 HSALNG0072294 C9orf64
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RMI1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RMI1

Top Transcription factor binding sites by QIAGEN in the RMI1 gene promoter:
  • aMEF-2
  • AREB6
  • MEF-2A
  • Nkx2-5
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx6-1
  • PPAR-gamma2

Genomic Locations for RMI1 Gene

Latest Assembly
chr9:83,980,359-84,004,074
(GRCh38/hg38)
Size:
23,716 bases
Orientation:
Plus strand

Previous Assembly
chr9:86,595,274-86,618,989
(GRCh37/hg19 by Entrez Gene)
Size:
23,716 bases
Orientation:
Plus strand

chr9:86,595,626-86,618,985
(GRCh37/hg19 by Ensembl)
Size:
23,360 bases
Orientation:
Plus strand

Genomic View for RMI1 Gene

Genes around RMI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RMI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RMI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RMI1 Gene

Proteins for RMI1 Gene

  • Protein details for RMI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H9A7-RMI1_HUMAN
    Recommended name:
    RecQ-mediated genome instability protein 1
    Protein Accession:
    Q9H9A7
    Secondary Accessions:
    • Q05BX1
    • Q05CW3
    • Q5SQG8
    • Q5SQG9
    • Q6P1Q4
    • Q6PI89
    • Q7Z6L6

    Protein attributes for RMI1 Gene

    Size:
    625 amino acids
    Molecular mass:
    70144 Da
    Quaternary structure:
    • Component of the RMI complex, containing at least TOP3A, RMI1 and RMI2. The RMI complex interacts with BLM. Directly interacts with RMI2 and TOP3A. May bind DHJ. Interacts (via N-terminal region) with BLM; the interaction is direct.
    SequenceCaution:
    • Sequence=AAH20606.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH32494.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH39999.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH53549.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH64937.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RMI1 Gene

neXtProt entry for RMI1 Gene

Post-translational modifications for RMI1 Gene

  • Ubiquitination at Lys205 and Lys453
  • Modification sites at PhosphoSitePlus

Other Protein References for RMI1 Gene

No data available for DME Specific Peptides for RMI1 Gene

Domains & Families for RMI1 Gene

Gene Families for RMI1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RMI1 Gene

InterPro:
Blocks:
  • OB-fold nucleic acid binding domain
  • Domain of unknown function DUF1767

Suggested Antigen Peptide Sequences for RMI1 Gene

GenScript: Design optimal peptide antigens:
  • FAAP75 (RMI1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H9A7

UniProtKB/Swiss-Prot:

RMI1_HUMAN :
  • Belongs to the RMI1 family.
Family:
  • Belongs to the RMI1 family.
genes like me logo Genes that share domains with RMI1: view

Function for RMI1 Gene

Molecular function for RMI1 Gene

UniProtKB/Swiss-Prot Function:
Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates to limit DNA crossover formation in cells. Promotes TOP3A binding to double Holliday junctions (DHJ) and hence stimulates TOP3A-mediated dissolution. Required for BLM phosphorylation during mitosis. Within the BLM complex, required for BLM and TOP3A stability.

Phenotypes From GWAS Catalog for RMI1 Gene

Gene Ontology (GO) - Molecular Function for RMI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 15775963
genes like me logo Genes that share ontologies with RMI1: view
genes like me logo Genes that share phenotypes with RMI1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RMI1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RMI1 Gene

Localization for RMI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RMI1 Gene

Nucleus. Note=Forms foci in response to DNA damage.

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 RMI1 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RMI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0016604 nuclear body IDA --
GO:0031422 RecQ helicase-Topo III complex IBA 21873635
genes like me logo Genes that share ontologies with RMI1: view

Pathways & Interactions for RMI1 Gene

genes like me logo Genes that share pathways with RMI1: view

Pathways by source for RMI1 Gene

Gene Ontology (GO) - Biological Process for RMI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000712 resolution of meiotic recombination intermediates IBA 21873635
GO:0000724 double-strand break repair via homologous recombination IBA 21873635
GO:0002021 response to dietary excess IEA --
GO:0002023 reduction of food intake in response to dietary excess IEA --
GO:0006260 DNA replication TAS --
genes like me logo Genes that share ontologies with RMI1: view

No data available for SIGNOR curated interactions for RMI1 Gene

Drugs & Compounds for RMI1 Gene

No Compound Related Data Available

Transcripts for RMI1 Gene

mRNA/cDNA for RMI1 Gene

5 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RMI1

Alternative Splicing Database (ASD) splice patterns (SP) for RMI1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e
SP1: -
SP2: - - -
SP3: - -
SP4: - - - -
SP5: - - -
SP6:
SP7: - - - -

Relevant External Links for RMI1 Gene

GeneLoc Exon Structure for
RMI1

Expression for RMI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RMI1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RMI1 Gene

This gene is overexpressed in Platelet (62.4) and Liver (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RMI1 Gene



Protein tissue co-expression partners for RMI1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RMI1

SOURCE GeneReport for Unigene cluster for RMI1 Gene:

Hs.726327

Evidence on tissue expression from TISSUES for RMI1 Gene

  • Skin(4.3)
  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with RMI1: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RMI1 Gene

Orthologs for RMI1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RMI1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RMI1 29 30
  • 99.36 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RMI1 29 30
  • 88.08 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RMI1 29
  • 87.98 (n)
Mouse
(Mus musculus)
Mammalia Rmi1 29 16 30
  • 80.51 (n)
OneToMany
Gm20775 30
  • 69 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Rmi1 29
  • 78.01 (n)
Oppossum
(Monodelphis domestica)
Mammalia RMI1 30
  • 62 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RMI1 30
  • 55 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RMI1 29 30
  • 62.66 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RMI1 30
  • 51 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rmi1 29
  • 65.71 (n)
Zebrafish
(Danio rerio)
Actinopterygii rmi1 29 30
  • 53.94 (n)
OneToOne
zgc55882 29
Worm
(Caenorhabditis elegans)
Secernentea T07C12.12 30
  • 18 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 32 (a)
OneToOne
Species where no ortholog for RMI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)

Evolution for RMI1 Gene

ENSEMBL:
Gene Tree for RMI1 (if available)
TreeFam:
Gene Tree for RMI1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RMI1: view image
Alliance of Genome Resources:
Additional Orthologs for RMI1

Paralogs for RMI1 Gene

No data available for Paralogs for RMI1 Gene

Variants for RMI1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RMI1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs143673151 Benign: not provided 84,001,883(+) A/T
NM_001358291.2(RMI1):c.897A>T (p.Pro299=)
SYNONYMOUS
rs146219782 Benign: not provided 84,001,983(+) A/G
NM_001358291.2(RMI1):c.997A>G (p.Thr333Ala)
MISSENSE
rs35874719 Benign: not provided 84,002,257(+) A/G
NM_001358291.2(RMI1):c.1271A>G (p.Asp424Gly)
MISSENSE
rs753543237 Uncertain Significance: not provided 84,002,234(+) TAAAGA/T
NM_001358291.2(RMI1):c.1250_1254AAGAA[1] (p.Lys419fs)
FRAMESHIFT
rs17855932 -- p.Tyr100His

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RMI1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RMI1 Gene

Variant ID Type Subtype PubMed ID
esv2759701 CNV gain 17122850
nsv1043703 CNV gain 25217958
nsv436717 OTHER inversion 17901297
nsv831644 CNV gain 17160897

Variation tolerance for RMI1 Gene

Residual Variation Intolerance Score: 50.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.14; 38.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RMI1 Gene

Human Gene Mutation Database (HGMD)
RMI1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RMI1
Leiden Open Variation Database (LOVD)
RMI1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RMI1 Gene

Disorders for RMI1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for RMI1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
bloom syndrome
  • blm
baller-gerold syndrome
  • bgs
malignant ovarian cyst
rothmund-thomson syndrome, type 2
  • rts2
rapadilino syndrome
  • absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate
- elite association - COSMIC cancer census association via MalaCards
Search RMI1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RMI1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with RMI1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RMI1 Gene

Publications for RMI1 Gene

  1. Colorectal cancer and polymorphisms in DNA repair genes WRN, RMI1 and BLM. (PMID: 19945966) Frank B … Brenner H (Carcinogenesis 2010) 3 22 40
  2. Association between polymorphisms in RMI1, TOP3A, and BLM and risk of cancer, a case-control study. (PMID: 19432957) Broberg K … Höglund M (BMC cancer 2009) 3 22 40
  3. BLAP75, an essential component of Bloom's syndrome protein complexes that maintain genome integrity. (PMID: 15775963) Yin J … Wang W (The EMBO journal 2005) 2 3 4
  4. Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair. (PMID: 23509288) Wan L … Huang J (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4
  5. Structure and cellular roles of the RMI core complex from the bloom syndrome dissolvasome. (PMID: 20826341) Hoadley KA … Keck JL (Structure (London, England : 1993) 2010) 2 3

Products for RMI1 Gene

Sources for RMI1 Gene