Human Gene RMI1 (ENST00000445877.6_12) from GENCODE V47lift37
  Description: RecQ mediated genome instability 1, transcript variant 4 (from RefSeq NM_001358293.2)
Gencode Transcript: ENST00000445877.6_12
Gencode Gene: ENSG00000178966.17_15
Transcript (Including UTRs)
   Position: hg19 chr9:86,595,720-86,618,989 Size: 23,270 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr9:86,615,902-86,617,779 Size: 1,878 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:86,595,720-86,618,989)mRNA (may differ from genome)Protein (625 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RMI1_HUMAN
DESCRIPTION: RecName: Full=RecQ-mediated genome instability protein 1; AltName: Full=BLM-associated protein of 75 kDa; Short=BLAP75; AltName: Full=FAAP75;
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.
SUBUNIT: Component of the RMI complex, containing at least TOP3A, RMI1 and RMI2. The RMI complex interacts with BLM. Directly interacts with RMI2, BLM and TOP3A. May bind DHJ.
INTERACTION: P54132:BLM; NbExp=7; IntAct=EBI-621339, EBI-621372;
SUBCELLULAR LOCATION: Nucleus. Note=Forms foci in response to DNA damage.
SIMILARITY: Belongs to the RMI1 family.
SEQUENCE CAUTION: Sequence=AAH20606.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH32494.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH39999.1; Type=Frameshift; Positions=375; Sequence=AAH39999.1; Type=Frameshift; Positions=377, 444; Sequence=AAH53549.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH64937.1; Type=Frameshift; Positions=444, 615; Sequence=AAH64937.1; Type=Frameshift; Positions=377, 444; Sequence=CAI13575.1; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.90 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 104.96 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -62.00212-0.292 Picture PostScript Text
3' UTR -262.001210-0.217 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013894 - DUF1767

Pfam Domains:
PF08585 - RecQ mediated genome instability protein
PF16099 - Recq-mediated genome instability protein 1, C-terminal OB-fold

SCOP Domains:
50249 - Nucleic acid-binding proteins

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3MXN - X-ray MuPIT 3NBH - X-ray MuPIT 3NBI - X-ray MuPIT 4DAY - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9H9A7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005515 protein binding

Biological Process:
GO:0002021 response to dietary excess
GO:0002023 reduction of food intake in response to dietary excess
GO:0006260 DNA replication
GO:0009749 response to glucose
GO:0035264 multicellular organism growth
GO:0042593 glucose homeostasis

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0016604 nuclear body


-  Descriptions from all associated GenBank mRNAs
  LF209811 - JP 2014500723-A/17314: Polycomb-Associated Non-Coding RNAs.
LF209812 - JP 2014500723-A/17315: Polycomb-Associated Non-Coding RNAs.
BC039999 - Homo sapiens RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae), mRNA (cDNA clone MGC:48732 IMAGE:5554889), complete cds.
BC020606 - Homo sapiens RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:4774885), partial cds.
AK022950 - Homo sapiens cDNA FLJ12888 fis, clone NT2RP2004081.
JD302291 - Sequence 283315 from Patent EP1572962.
JD351749 - Sequence 332773 from Patent EP1572962.
BC044571 - Homo sapiens RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:5269264), containing frame-shift errors.
BC053549 - Homo sapiens RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:6012597), partial cds.
BC032494 - Homo sapiens RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:5243551), partial cds.
BC064937 - Homo sapiens RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae), mRNA (cDNA clone MGC:70678 IMAGE:6158300), complete cds.
JD358553 - Sequence 339577 from Patent EP1572962.
JD304958 - Sequence 285982 from Patent EP1572962.
KJ903264 - Synthetic construct Homo sapiens clone ccsbBroadEn_12658 RMI1 gene, encodes complete protein.
LF331839 - JP 2014500723-A/139342: Polycomb-Associated Non-Coding RNAs.
JD314554 - Sequence 295578 from Patent EP1572962.
JD286279 - Sequence 267303 from Patent EP1572962.
JD528895 - Sequence 509919 from Patent EP1572962.
JD314259 - Sequence 295283 from Patent EP1572962.
JD507625 - Sequence 488649 from Patent EP1572962.
JD511284 - Sequence 492308 from Patent EP1572962.
JD154079 - Sequence 135103 from Patent EP1572962.
JD203871 - Sequence 184895 from Patent EP1572962.
JD509603 - Sequence 490627 from Patent EP1572962.
JD280728 - Sequence 261752 from Patent EP1572962.
AJ420435 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 1561553.
JD342907 - Sequence 323931 from Patent EP1572962.
JD293145 - Sequence 274169 from Patent EP1572962.
JD369708 - Sequence 350732 from Patent EP1572962.
JD066758 - Sequence 47782 from Patent EP1572962.
JD477115 - Sequence 458139 from Patent EP1572962.
JD427991 - Sequence 409015 from Patent EP1572962.
JD100990 - Sequence 82014 from Patent EP1572962.
JD350569 - Sequence 331593 from Patent EP1572962.
JD166621 - Sequence 147645 from Patent EP1572962.
JD061389 - Sequence 42413 from Patent EP1572962.
JD563190 - Sequence 544214 from Patent EP1572962.
JD550752 - Sequence 531776 from Patent EP1572962.
MA567416 - JP 2018138019-A/139342: Polycomb-Associated Non-Coding RNAs.
MA445388 - JP 2018138019-A/17314: Polycomb-Associated Non-Coding RNAs.
MA445389 - JP 2018138019-A/17315: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9H9A7 (Reactome details) participates in the following event(s):

R-HSA-5686398 SPIDR binds BLM:TOP3A:RMI1:RMI2
R-HSA-5685985 EXO1 or DNA2 in complex with BLM or WRN binds initially resected DNA DSBs along with BRIP1 recruitment
R-HSA-5686410 BLM mediates dissolution of double Holliday junction
R-HSA-5686657 ERCC1:XPF cleaves flaps generated by SSA
R-HSA-5693589 D-loop dissociation and strand annealing
R-HSA-5693542 Association of RPA complexes with ssDNA at resected DNA DSBs
R-HSA-5685994 Long-range resection of DNA DSBs by EXO1 or DNA2
R-HSA-5684887 Activation of CHEK1 at resected DNA DSBs
R-HSA-5684882 CHEK1 is recruited to resected DNA DSBs
R-HSA-5693561 RAD51 binds BRCA2 at resected DNA DSBs
R-HSA-5693580 Association of RAD52 with the RPA complex at resected DNA DSBs
R-HSA-5685156 ATR phosphorylates RPA2
R-HSA-5685341 BCDX2 complex stabilizes RAD51 filament
R-HSA-5685838 CX3 complex binds D-loop structures
R-HSA-5693620 D-loop formation mediated by PALB2, BRCA2 and RAD51
R-HSA-5684875 Binding of ATR:ATRIP to RPA at resected DNA DSBs
R-HSA-5693564 Association of RAD51 with RAD52:DNA double-strand break ends
R-HSA-5693593 D-loop extension by DNA polymerases
R-HSA-5693584 Cleavage of Holliday junctions by GEN1 or SLX1A:SLX4:MUS81:EME1,(MUS81:EME2)
R-HSA-5686440 MUS81:EME1,EME2 cleaves D-loop
R-HSA-5685011 ATR activation at DNA DSBs
R-HSA-5686642 RAD52 promotes single strand annealing at resected DNA DSBs
R-HSA-6799332 ATR phosphorylates TP53
R-HSA-5693568 Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-5693537 Resolution of D-Loop Structures
R-HSA-5693607 Processing of DNA double-strand break ends
R-HSA-5685938 HDR through Single Strand Annealing (SSA)
R-HSA-5693554 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-5685942 HDR through Homologous Recombination (HRR)
R-HSA-5693616 Presynaptic phase of homologous DNA pairing and strand exchange
R-HSA-5693579 Homologous DNA Pairing and Strand Exchange
R-HSA-5693567 HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)
R-HSA-5693538 Homology Directed Repair
R-HSA-5693532 DNA Double-Strand Break Repair
R-HSA-73894 DNA Repair
R-HSA-69473 G2/M DNA damage checkpoint
R-HSA-6804756 Regulation of TP53 Activity through Phosphorylation
R-HSA-69481 G2/M Checkpoints
R-HSA-5633007 Regulation of TP53 Activity
R-HSA-69620 Cell Cycle Checkpoints
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-1640170 Cell Cycle
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: C9orf76, ENST00000445877.1, ENST00000445877.2, ENST00000445877.3, ENST00000445877.4, ENST00000445877.5, NM_001358293, Q05BX1, Q05CW3, Q5SQG8, Q5SQG9, Q6P1Q4, Q6PI89, Q7Z6L6, Q9H9A7, RMI1_HUMAN, uc320npu.1, uc320npu.2
UCSC ID: ENST00000445877.6_12
RefSeq Accession: NM_001358291.2
Protein: Q9H9A7 (aka RMI1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.