UniProtKB - Q9H9A7 (RMI1_HUMAN)
RecQ-mediated genome instability protein 1
RMI1
Functioni
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.
3 PublicationsGO - Molecular functioni
- nucleotide binding Source: InterPro
GO - Biological processi
- DNA replication Source: UniProtKB-KW
- double-strand break repair via homologous recombination Source: ComplexPortal
- glucose homeostasis Source: Ensembl
- multicellular organism growth Source: Ensembl
- reduction of food intake in response to dietary excess Source: Ensembl
- resolution of meiotic recombination intermediates Source: GO_Central
- resolution of recombination intermediates Source: ComplexPortal
- response to glucose Source: Ensembl
Keywordsi
Biological process | DNA replication |
Enzyme and pathway databases
PathwayCommonsi | Q9H9A7 |
Reactomei | R-HSA-5685938, HDR through Single Strand Annealing (SSA) R-HSA-5685942, HDR through Homologous Recombination (HRR) R-HSA-5693554, Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) R-HSA-5693568, Resolution of D-loop Structures through Holliday Junction Intermediates R-HSA-5693579, Homologous DNA Pairing and Strand Exchange R-HSA-5693607, Processing of DNA double-strand break ends R-HSA-5693616, Presynaptic phase of homologous DNA pairing and strand exchange R-HSA-6804756, Regulation of TP53 Activity through Phosphorylation R-HSA-69473, G2/M DNA damage checkpoint R-HSA-9701192, Defective HDR through Homologous Recombination (HRR) due to BRCA1 loss-of-function R-HSA-9704331, Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function R-HSA-9704646, Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function |
SignaLinki | Q9H9A7 |
Names & Taxonomyi
Protein namesi | Recommended name: RecQ-mediated genome instability protein 1Alternative name(s): BLM-associated protein of 75 kDa Short name: BLAP75 FAAP75 |
Gene namesi | Name:RMI1 Synonyms:C9orf76 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:25764, RMI1 |
MIMi | 610404, gene |
neXtProti | NX_Q9H9A7 |
VEuPathDBi | HostDB:ENSG00000178966 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Note: Forms foci in response to DNA damage.
Nucleus
- nuclear body Source: HPA
- nucleoplasm Source: HPA
Other locations
- RecQ family helicase-topoisomerase III complex Source: ComplexPortal
Keywords - Cellular componenti
NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 80010 |
OpenTargetsi | ENSG00000178966 |
PharmGKBi | PA134939007 |
Miscellaneous databases
Pharosi | Q9H9A7, Tbio |
Genetic variation databases
BioMutai | RMI1 |
DMDMi | 322510109 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000227546 | 1 – 625 | RecQ-mediated genome instability protein 1Add BLAST | 625 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1 | N-acetylmethionineCombined sources | 1 | |
Modified residuei | 225 | PhosphoserineCombined sources | 1 | |
Modified residuei | 284 | PhosphoserineCombined sources | 1 | |
Modified residuei | 292 | PhosphoserineCombined sources | 1 | |
Cross-linki | 334 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 387 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 426 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources |
Keywords - PTMi
Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q9H9A7 |
jPOSTi | Q9H9A7 |
MassIVEi | Q9H9A7 |
MaxQBi | Q9H9A7 |
PaxDbi | Q9H9A7 |
PeptideAtlasi | Q9H9A7 |
PRIDEi | Q9H9A7 |
ProteomicsDBi | 81306 |
PTM databases
iPTMneti | Q9H9A7 |
PhosphoSitePlusi | Q9H9A7 |
Expressioni
Gene expression databases
Bgeei | ENSG00000178966, Expressed in oocyte and 222 other tissues |
ExpressionAtlasi | Q9H9A7, baseline and differential |
Genevisiblei | Q9H9A7, HS |
Organism-specific databases
HPAi | ENSG00000178966, Low tissue specificity |
Interactioni
Subunit structurei
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.
6 PublicationsBinary interactionsi
Q9H9A7
With | #Exp. | IntAct |
---|---|---|
BLM [P54132] | 15 | EBI-621339,EBI-621372 |
RMI2 [Q96E14] | 4 | EBI-621339,EBI-2555534 |
RMI2 - isoform 1 [Q96E14-1] | 13 | EBI-621339,EBI-15876491 |
TOP3A [Q13472] | 10 | EBI-621339,EBI-621345 |
Protein-protein interaction databases
BioGRIDi | 123066, 36 interactors |
ComplexPortali | CPX-3301, BTR double Holliday Junction dissolution complex |
CORUMi | Q9H9A7 |
DIPi | DIP-33324N |
IntActi | Q9H9A7, 23 interactors |
MINTi | Q9H9A7 |
STRINGi | 9606.ENSP00000317039 |
Miscellaneous databases
RNActi | Q9H9A7, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q9H9A7 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 257 – 282 | DisorderedSequence analysisAdd BLAST | 26 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG3683, Eukaryota |
GeneTreei | ENSGT00940000161055 |
InParanoidi | Q9H9A7 |
OMAi | MQGMEYQ |
OrthoDBi | 531291at2759 |
PhylomeDBi | Q9H9A7 |
TreeFami | TF316491 |
Family and domain databases
Gene3Di | 1.10.8.1020, 1 hit 2.40.50.770, 1 hit |
IDEALi | IID00421 |
InterProi | View protein in InterPro IPR033472, DUF1767 IPR032199, RMI1_C IPR013894, RMI1_N IPR042470, RMI1_N_2 IPR044881, RMI1_N_2_sf |
Pfami | View protein in Pfam PF16099, RMI1_C, 1 hit PF08585, RMI1_N, 1 hit |
SMARTi | View protein in SMART SM01161, DUF1767, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
10 20 30 40 50
MNVTSIALRA ETWLLAAWHV KVPPMWLEAC INWIQEENNN VNLSQAQMNK
60 70 80 90 100
QVFEQWLLTD LRDLEHPLLP DGILEIPKGE LNGFYALQIN SLVDVSQPAY
110 120 130 140 150
SQIQKLRGKN TTNDLVTAEA QVTPKPWEAK PSRMLMLQLT DGIVQIQGME
160 170 180 190 200
YQPIPILHSD LPPGTKILIY GNISFRLGVL LLKPENVKVL GGEVDALLEE
210 220 230 240 250
YAQEKVLARL IGEPDLVVSV IPNNSNENIP RVTDVLDPAL GPSDEELLAS
260 270 280 290 300
LDENDELTAN NDTSSERCFT TGSSSNTIPT RQSSFEPEFV ISPRPKEEPS
310 320 330 340 350
NLSIHVMDGE LDDFSLEEAL LLEETVQKEQ METKELQPLT FNRNADRSIE
360 370 380 390 400
RFSHNPNTTN NFSLTCKNGN NNWSEKNVSE QMTNEDKSFG CPSVRDQNRS
410 420 430 440 450
IFSVHCNVPL AHDFTNKEKN LETDNKIKQT SSSDSHSLNN KILNREVVNY
460 470 480 490 500
VQKRNSQISN ENDCNLQSCS LRSSENSINL SIAMDLYSPP FVYLSVLMAS
510 520 530 540 550
KPKEVTTVKV KAFIVTLTGN LSSSGGIWSI TAKVSDGTAY LDVDFVDEIL
560 570 580 590 600
TSLIGFSVPE MKQSKKDPLQ YQKFLEGLQK CQRDLIDLCC LMTISFNPSL
610 620
SKAMVLALQD VNMEHLENLK KRLNK
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A0A0MSU3 | A0A0A0MSU3_HUMAN | RecQ-mediated genome instability pr... | RMI1 | 415 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 11 | E → G in BAB14325 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 259 | A → T in BAB14325 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 318 | E → D in AAH20606 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 443 | L → F in AAH39999 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_025556 | 100 | Y → H1 PublicationCorresponds to variant dbSNP:rs17855932Ensembl. | 1 | |
Natural variantiVAR_025557 | 455 | N → S2 PublicationsCorresponds to variant dbSNP:rs1982151Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK022950 mRNA Translation: BAB14325.1 AL732446 Genomic DNA No translation available. BC020606 mRNA Translation: AAH20606.1 Sequence problems. BC032494 mRNA Translation: AAH32494.1 Sequence problems. BC039999 mRNA Translation: AAH39999.1 Frameshift. BC053549 mRNA Translation: AAH53549.1 Sequence problems. BC064937 mRNA Translation: AAH64937.1 Frameshift. |
CCDSi | CCDS6669.1 |
RefSeqi | NP_079221.2, NM_024945.2 XP_005252268.1, XM_005252211.2 XP_005252270.1, XM_005252213.2 XP_011517336.1, XM_011519034.2 XP_016870629.1, XM_017015140.1 |
Genome annotation databases
Ensembli | ENST00000325875; ENSP00000317039; ENSG00000178966 ENST00000445877; ENSP00000402433; ENSG00000178966 |
GeneIDi | 80010 |
KEGGi | hsa:80010 |
MANE-Selecti | ENST00000445877.6; ENSP00000402433.2; NM_001358291.2; NP_001345220.1 |
UCSCi | uc004anq.5, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK022950 mRNA Translation: BAB14325.1 AL732446 Genomic DNA No translation available. BC020606 mRNA Translation: AAH20606.1 Sequence problems. BC032494 mRNA Translation: AAH32494.1 Sequence problems. BC039999 mRNA Translation: AAH39999.1 Frameshift. BC053549 mRNA Translation: AAH53549.1 Sequence problems. BC064937 mRNA Translation: AAH64937.1 Frameshift. |
CCDSi | CCDS6669.1 |
RefSeqi | NP_079221.2, NM_024945.2 XP_005252268.1, XM_005252211.2 XP_005252270.1, XM_005252213.2 XP_011517336.1, XM_011519034.2 XP_016870629.1, XM_017015140.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3MXN | X-ray | 1.55 | A | 473-625 | [»] | |
3NBH | X-ray | 2.00 | A | 475-625 | [»] | |
3NBI | X-ray | 2.00 | A | 2-213 | [»] | |
4CGY | X-ray | 2.85 | B | 1-219 | [»] | |
4CHT | X-ray | 3.25 | B | 1-219 | [»] | |
4DAY | X-ray | 3.30 | A | 473-625 | [»] | |
SMRi | Q9H9A7 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 123066, 36 interactors |
ComplexPortali | CPX-3301, BTR double Holliday Junction dissolution complex |
CORUMi | Q9H9A7 |
DIPi | DIP-33324N |
IntActi | Q9H9A7, 23 interactors |
MINTi | Q9H9A7 |
STRINGi | 9606.ENSP00000317039 |
PTM databases
iPTMneti | Q9H9A7 |
PhosphoSitePlusi | Q9H9A7 |
Genetic variation databases
BioMutai | RMI1 |
DMDMi | 322510109 |
Proteomic databases
EPDi | Q9H9A7 |
jPOSTi | Q9H9A7 |
MassIVEi | Q9H9A7 |
MaxQBi | Q9H9A7 |
PaxDbi | Q9H9A7 |
PeptideAtlasi | Q9H9A7 |
PRIDEi | Q9H9A7 |
ProteomicsDBi | 81306 |
Protocols and materials databases
Antibodypediai | 27643, 166 antibodies from 24 providers |
DNASUi | 80010 |
Genome annotation databases
Ensembli | ENST00000325875; ENSP00000317039; ENSG00000178966 ENST00000445877; ENSP00000402433; ENSG00000178966 |
GeneIDi | 80010 |
KEGGi | hsa:80010 |
MANE-Selecti | ENST00000445877.6; ENSP00000402433.2; NM_001358291.2; NP_001345220.1 |
UCSCi | uc004anq.5, human |
Organism-specific databases
CTDi | 80010 |
DisGeNETi | 80010 |
GeneCardsi | RMI1 |
HGNCi | HGNC:25764, RMI1 |
HPAi | ENSG00000178966, Low tissue specificity |
MIMi | 610404, gene |
neXtProti | NX_Q9H9A7 |
OpenTargetsi | ENSG00000178966 |
PharmGKBi | PA134939007 |
VEuPathDBi | HostDB:ENSG00000178966 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3683, Eukaryota |
GeneTreei | ENSGT00940000161055 |
InParanoidi | Q9H9A7 |
OMAi | MQGMEYQ |
OrthoDBi | 531291at2759 |
PhylomeDBi | Q9H9A7 |
TreeFami | TF316491 |
Enzyme and pathway databases
PathwayCommonsi | Q9H9A7 |
Reactomei | R-HSA-5685938, HDR through Single Strand Annealing (SSA) R-HSA-5685942, HDR through Homologous Recombination (HRR) R-HSA-5693554, Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) R-HSA-5693568, Resolution of D-loop Structures through Holliday Junction Intermediates R-HSA-5693579, Homologous DNA Pairing and Strand Exchange R-HSA-5693607, Processing of DNA double-strand break ends R-HSA-5693616, Presynaptic phase of homologous DNA pairing and strand exchange R-HSA-6804756, Regulation of TP53 Activity through Phosphorylation R-HSA-69473, G2/M DNA damage checkpoint R-HSA-9701192, Defective HDR through Homologous Recombination (HRR) due to BRCA1 loss-of-function R-HSA-9704331, Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function R-HSA-9704646, Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function |
SignaLinki | Q9H9A7 |
Miscellaneous databases
BioGRID-ORCSi | 80010, 457 hits in 1052 CRISPR screens |
GeneWikii | RMI1 |
GenomeRNAii | 80010 |
Pharosi | Q9H9A7, Tbio |
PROi | PR:Q9H9A7 |
RNActi | Q9H9A7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000178966, Expressed in oocyte and 222 other tissues |
ExpressionAtlasi | Q9H9A7, baseline and differential |
Genevisiblei | Q9H9A7, HS |
Family and domain databases
Gene3Di | 1.10.8.1020, 1 hit 2.40.50.770, 1 hit |
IDEALi | IID00421 |
InterProi | View protein in InterPro IPR033472, DUF1767 IPR032199, RMI1_C IPR013894, RMI1_N IPR042470, RMI1_N_2 IPR044881, RMI1_N_2_sf |
Pfami | View protein in Pfam PF16099, RMI1_C, 1 hit PF08585, RMI1_N, 1 hit |
SMARTi | View protein in SMART SM01161, DUF1767, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | RMI1_HUMAN | |
Accessioni | Q9H9A7Primary (citable) accession number: Q9H9A7 Secondary accession number(s): Q05BX1 Q7Z6L6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 21, 2006 |
Last sequence update: | February 8, 2011 | |
Last modified: | February 23, 2022 | |
This is version 157 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families