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Aliases for RMI1 Gene

Aliases for RMI1 Gene

  • RecQ Mediated Genome Instability 1 2 3 5
  • C9orf76 3 4
  • BLAP75 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 Polypeptide, 75 KDa 3
  • BLM-Associated Protein Of 75 KDa 4
  • BLM-Associated Protein 75 KDa 3
  • BLM-Associated Polypeptide 2
  • 75 KDa 2

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. Among its related pathways are Gene Expression and Cell Cycle, Mitotic. An important paralog of this gene is TDRD3.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RMI1 Gene

Genomics for RMI1 Gene

Regulatory Elements for RMI1 Gene

Promoters for RMI1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RMI1 on UCSC Golden Path with GeneCards custom track

Genomic Location for RMI1 Gene

Chromosome:
9
Start:
83,980,711 bp from pter
End:
84,004,074 bp from pter
Size:
23,364 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; Positions=375; Evidence={ECO:0000305}; Sequence=AAH39999.1; Type=Frameshift; Positions=377, 444; Evidence={ECO:0000305}; Sequence=AAH53549.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH64937.1; Type=Frameshift; Positions=444, 615; Evidence={ECO:0000305}; Sequence=AAH64937.1; Type=Frameshift; Positions=377, 444; Evidence={ECO:0000305}; Sequence=CAI13575.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RMI1 Gene

neXtProt entry for RMI1 Gene

Proteomics data for RMI1 Gene at MOPED

Post-translational modifications for RMI1 Gene

  • Ubiquitination at Lys 205 and Lys 453
  • Modification sites at PhosphoSitePlus

Other Protein References for RMI1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RMI1 Gene

Domains & Families for RMI1 Gene

Protein Domains for RMI1 Gene

Suggested Antigen Peptide Sequences for RMI1 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for RMI1 Gene

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.
genes like me logo Genes that share phenotypes with RMI1: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for RMI1 Gene COMPARTMENTS Subcellular localization image for RMI1 gene
Compartment Confidence
nucleus 5
cytosol 2
endoplasmic reticulum 1
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for RMI1 Gene

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:0000731 DNA synthesis involved in DNA repair TAS --
GO:0000732 strand displacement TAS --
GO:0002021 response to dietary excess IEA --
GO:0006260 DNA replication IEA,TAS --
GO:0035264 multicellular organism growth IEA --
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

Unigene Clusters for RMI1 Gene

RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae):
Representative Sequences:

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
ECgene alternative splicing isoforms for
RMI1

Expression for RMI1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for RMI1 Gene



SOURCE GeneReport for Unigene cluster for RMI1 Gene Hs.726327

genes like me logo Genes that share expression patterns with RMI1: view

Protein tissue co-expression partners for RMI1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia RMI1 35
  • 87.98 (n)
  • 82.53 (a)
dog
(Canis familiaris)
Mammalia RMI1 35
  • 88.08 (n)
  • 84.38 (a)
RMI1 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rmi1 35
  • 80.51 (n)
  • 73.62 (a)
Rmi1 16
Gm20775 36
  • 69 (a)
OneToMany
Rmi1 36
  • 71 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia RMI1 35
  • 99.36 (n)
  • 98.88 (a)
RMI1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rmi1 35
  • 78.01 (n)
  • 70.85 (a)
oppossum
(Monodelphis domestica)
Mammalia RMI1 36
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RMI1 36
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves RMI1 35
  • 62.66 (n)
  • 56.93 (a)
RMI1 36
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RMI1 36
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rmi1 35
  • 65.71 (n)
  • 61.67 (a)
zebrafish
(Danio rerio)
Actinopterygii rmi1 35
  • 53.94 (n)
  • 49.7 (a)
zgc55882 35
rmi1 36
  • 35 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T07C12.12 36
  • 18 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
OneToOne
Species with no ortholog for RMI1:
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)

Evolution for RMI1 Gene

ENSEMBL:
Gene Tree for RMI1 (if available)
TreeFam:
Gene Tree for RMI1 (if available)

Paralogs for RMI1 Gene

Paralogs for RMI1 Gene

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

Variants for RMI1 Gene

Sequence variations from dbSNP and Humsavar for RMI1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs17855932 - 84,001,284(+) CTGCA(C/T)ACTCC reference, missense
rs1982151 - 84,002,350(+) AAGGA(A/G)TTCAC reference, missense
rs177042 -- 83,984,841(-) tcaca(C/G)ctgta intron-variant
rs754144 -- 83,996,121(-) AAAAG(A/G)GTAAA intron-variant
rs296892 -- 83,982,891(-) CTTAA(C/T)TTCAA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2394e1 CNV Complex 17122850
nsv436717 OTHER Inversion 17901297
nsv831644 CNV Gain 17160897
nsv893514 CNV Gain 21882294

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)

Relevant External Links for RMI1 Gene

HapMap Linkage Disequilibrium report
RMI1
Human Gene Mutation Database (HGMD)
RMI1

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

Disorders for RMI1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RMI1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
bloom syndrome
  • bloom-torre-machacek syndrome
- elite association - COSMIC cancer census association via MalaCards
Search RMI1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RMI1

Genetic Association Database (GAD)
RMI1
Human Genome Epidemiology (HuGE) Navigator
RMI1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RMI1
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. BLAP75, an essential component of Bloom's syndrome protein complexes that maintain genome integrity. (PMID: 15775963) Yin J. … Wang W. (EMBO J. 2005) 2 3 4 67
  2. Structure and cellular roles of the RMI core complex from the bloom syndrome dissolvasome. (PMID: 20826341) Hoadley K.A. … Keck J.L. (Structure 2010) 2 3
  3. Colorectal cancer and polymorphisms in DNA repair genes WRN, RMI1 and BLM. (PMID: 19945966) Frank B. … Brenner H. (Carcinogenesis 2010) 3 23
  4. Association between polymorphisms in RMI1, TOP3A, and BLM and risk of cancer, a case-control study. (PMID: 19432957) Broberg K. … HAPglund M. (BMC Cancer 2009) 3 23
  5. RMI1/NCE4, a suppressor of genome instability, encodes a member of the RecQ helicase/Topo III complex. (PMID: 15889139) Chang M. … Brown G.W. (EMBO J. 2005) 3 23

Products for RMI1 Gene

Sources for RMI1 Gene

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