RMI1 (RecQ mediated genome instability 1)

2007-10-01  

Identity

HGNC
LOCATION
9q21.32
LOCUSID
ALIAS
BLAP75,C9orf76,FAAP75
FUSION GENES

Other Information

Locus ID:

NCBI: 80010
MIM: 610404
HGNC: 25764
Ensembl: ENSG00000178966

Variants:

dbSNP: 80010
ClinVar: 80010
TCGA: ENSG00000178966
COSMIC: RMI1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000178966ENST00000325875Q9H9A7
ENSG00000178966ENST00000445877A0A0A0MSU3

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Fanconi anemia pathwayKEGGko03460
Fanconi anemia pathwayKEGGhsa03460
Bloom's syndrome complexKEGGhsa_M00414
Bloom's syndrome complexKEGGM00414
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
Cell CycleREACTOMER-HSA-1640170
Cell Cycle CheckpointsREACTOMER-HSA-69620
G2/M CheckpointsREACTOMER-HSA-69481
G2/M DNA damage checkpointREACTOMER-HSA-69473
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
Homology Directed RepairREACTOMER-HSA-5693538
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)REACTOMER-HSA-5693567
Processing of DNA double-strand break endsREACTOMER-HSA-5693607
HDR through Homologous Recombination (HRR)REACTOMER-HSA-5685942
Homologous DNA Pairing and Strand ExchangeREACTOMER-HSA-5693579
Presynaptic phase of homologous DNA pairing and strand exchangeREACTOMER-HSA-5693616
Resolution of D-Loop StructuresREACTOMER-HSA-5693537
Resolution of D-loop Structures through Holliday Junction IntermediatesREACTOMER-HSA-5693568
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)REACTOMER-HSA-5693554
HDR through Single Strand Annealing (SSA)REACTOMER-HSA-5685938
Regulation of TP53 ActivityREACTOMER-HSA-5633007
Regulation of TP53 Activity through PhosphorylationREACTOMER-HSA-6804756

References

Pubmed IDYearTitleCitations
165374862006BLAP75/RMI1 promotes the BLM-dependent dissolution of homologous recombination intermediates.151
165956952006A double Holliday junction dissolvasome comprising BLM, topoisomerase IIIalpha, and BLAP75.123
177282552007Holliday junction processing activity of the BLM-Topo IIIalpha-BLAP75 complex.56
183905472008Functional role of BLAP75 in BLM-topoisomerase IIIalpha-dependent holliday junction processing.40
204452072010Human topoisomerase IIIalpha is a single-stranded DNA decatenase that is stimulated by BLM and RMI1.33
252000812014Multifaceted role of the Topo IIIα-RMI1-RMI2 complex and DNA2 in the BLM-dependent pathway of DNA break end resection.29
198615172009Predisposition for TMPRSS2-ERG fusion in prostate cancer by variants in DNA repair genes.26
208263422010Crystal structures of RMI1 and RMI2, two OB-fold regulatory subunits of the BLM complex.25
194329572009Association between polymorphisms in RMI1, TOP3A, and BLM and risk of cancer, a case-control study.17
194329572009Association between polymorphisms in RMI1, TOP3A, and BLM and risk of cancer, a case-control study.17

Citation

Dessen P

RMI1 (RecQ mediated genome instability 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-10-01

Online version: http://atlasgeneticsoncology.org/gene/49767/rmi1