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Protein

RecQ-mediated genome instability protein 1

Gene

RMI1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 Publications

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processDNA replication

Enzyme and pathway databases

ReactomeiR-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

Names & Taxonomyi

Protein namesi
Recommended name:
RecQ-mediated genome instability protein 1
Alternative name(s):
BLM-associated protein of 75 kDa
Short name:
BLAP75
FAAP75
Gene namesi
Name:RMI1
Synonyms:C9orf76
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000178966.15
HGNCiHGNC:25764 RMI1
MIMi610404 gene
neXtProtiNX_Q9H9A7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi80010
OpenTargetsiENSG00000178966
PharmGKBiPA134939007

Polymorphism and mutation databases

BioMutaiRMI1
DMDMi322510109

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002275461 – 625RecQ-mediated genome instability protein 1Add BLAST625

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei225PhosphoserineCombined sources1
Modified residuei284PhosphoserineCombined sources1
Modified residuei292PhosphoserineCombined sources1
Cross-linki334Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki387Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki426Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9H9A7
MaxQBiQ9H9A7
PaxDbiQ9H9A7
PeptideAtlasiQ9H9A7
PRIDEiQ9H9A7
ProteomicsDBi81306

PTM databases

iPTMnetiQ9H9A7
PhosphoSitePlusiQ9H9A7

Expressioni

Gene expression databases

BgeeiENSG00000178966 Expressed in 205 organ(s), highest expression level in oocyte
CleanExiHS_RMI1
ExpressionAtlasiQ9H9A7 baseline and differential
GenevisibleiQ9H9A7 HS

Organism-specific databases

HPAiHPA021661

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 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi123066, 26 interactors
ComplexPortaliCPX-3301 BTR double Holliday Junction dissolution complex
CORUMiQ9H9A7
DIPiDIP-33324N
IntActiQ9H9A7, 17 interactors
MINTiQ9H9A7
STRINGi9606.ENSP00000317039

Structurei

Secondary structure

1625
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9H9A7
SMRiQ9H9A7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the RMI1 family.Curated

Phylogenomic databases

eggNOGiENOG410INNR Eukaryota
ENOG410Z65I LUCA
GeneTreeiENSGT00740000115530
HOVERGENiHBG061190
InParanoidiQ9H9A7
KOiK10990
OMAiQGMEYQS
OrthoDBiEOG091G0GU8
PhylomeDBiQ9H9A7
TreeFamiTF316491

Family and domain databases

InterProiView protein in InterPro
IPR033472 DUF1767
IPR039215 RMI1
IPR032199 RMI1_C
IPR013894 RMI1_N
PANTHERiPTHR14790 PTHR14790, 1 hit
PfamiView protein in Pfam
PF16099 RMI1_C, 1 hit
PF08585 RMI1_N, 1 hit
SMARTiView protein in SMART
SM01161 DUF1767, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q9H9A7-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:625
Mass (Da):70,144
Last modified:February 8, 2011 - v3
Checksum:i2BB449363DBF76B7
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MSU3A0A0A0MSU3_HUMAN
RecQ-mediated genome instability pr...
RMI1
415Annotation score:

Sequence cautioni

The sequence AAH20606 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAH32494 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAH39999 differs from that shown. Reason: Frameshift at position 375.Curated
The sequence AAH39999 differs from that shown. Reason: Frameshift at positions 377 and 444.Curated
The sequence AAH53549 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAH64937 differs from that shown. Reason: Frameshift at positions 444 and 615.Curated
The sequence AAH64937 differs from that shown. Reason: Frameshift at positions 377 and 444.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti11E → G in BAB14325 (PubMed:14702039).Curated1
Sequence conflicti259A → T in BAB14325 (PubMed:14702039).Curated1
Sequence conflicti318E → D in AAH20606 (PubMed:15489334).Curated1
Sequence conflicti443L → F in AAH39999 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_025556100Y → H1 PublicationCorresponds to variant dbSNP:rs17855932Ensembl.1
Natural variantiVAR_025557455N → 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.
CCDSiCCDS6669.1
RefSeqiNP_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
UniGeneiHs.726327

Genome annotation databases

EnsembliENST00000325875; ENSP00000317039; ENSG00000178966
GeneIDi80010
KEGGihsa:80010
UCSCiuc004anq.5 human

Keywords - Coding sequence diversityi

Polymorphism

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.
CCDSiCCDS6669.1
RefSeqiNP_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
UniGeneiHs.726327

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3MXNX-ray1.55A473-625[»]
3NBHX-ray2.00A475-625[»]
3NBIX-ray2.00A2-213[»]
4CGYX-ray2.85B1-219[»]
4CHTX-ray3.25B1-219[»]
4DAYX-ray3.30A473-625[»]
ProteinModelPortaliQ9H9A7
SMRiQ9H9A7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123066, 26 interactors
ComplexPortaliCPX-3301 BTR double Holliday Junction dissolution complex
CORUMiQ9H9A7
DIPiDIP-33324N
IntActiQ9H9A7, 17 interactors
MINTiQ9H9A7
STRINGi9606.ENSP00000317039

PTM databases

iPTMnetiQ9H9A7
PhosphoSitePlusiQ9H9A7

Polymorphism and mutation databases

BioMutaiRMI1
DMDMi322510109

Proteomic databases

EPDiQ9H9A7
MaxQBiQ9H9A7
PaxDbiQ9H9A7
PeptideAtlasiQ9H9A7
PRIDEiQ9H9A7
ProteomicsDBi81306

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000325875; ENSP00000317039; ENSG00000178966
GeneIDi80010
KEGGihsa:80010
UCSCiuc004anq.5 human

Organism-specific databases

CTDi80010
DisGeNETi80010
EuPathDBiHostDB:ENSG00000178966.15
GeneCardsiRMI1
H-InvDBiHIX0008132
HGNCiHGNC:25764 RMI1
HPAiHPA021661
MIMi610404 gene
neXtProtiNX_Q9H9A7
OpenTargetsiENSG00000178966
PharmGKBiPA134939007
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410INNR Eukaryota
ENOG410Z65I LUCA
GeneTreeiENSGT00740000115530
HOVERGENiHBG061190
InParanoidiQ9H9A7
KOiK10990
OMAiQGMEYQS
OrthoDBiEOG091G0GU8
PhylomeDBiQ9H9A7
TreeFamiTF316491

Enzyme and pathway databases

ReactomeiR-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

Miscellaneous databases

GeneWikiiRMI1
GenomeRNAii80010
PROiPR:Q9H9A7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000178966 Expressed in 205 organ(s), highest expression level in oocyte
CleanExiHS_RMI1
ExpressionAtlasiQ9H9A7 baseline and differential
GenevisibleiQ9H9A7 HS

Family and domain databases

InterProiView protein in InterPro
IPR033472 DUF1767
IPR039215 RMI1
IPR032199 RMI1_C
IPR013894 RMI1_N
PANTHERiPTHR14790 PTHR14790, 1 hit
PfamiView protein in Pfam
PF16099 RMI1_C, 1 hit
PF08585 RMI1_N, 1 hit
SMARTiView protein in SMART
SM01161 DUF1767, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRMI1_HUMAN
AccessioniPrimary (citable) accession number: Q9H9A7
Secondary accession number(s): Q05BX1
, Q05CW3, Q5SQG8, Q5SQG9, Q6P1Q4, Q6PI89, Q7Z6L6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: February 8, 2011
Last modified: September 12, 2018
This is version 137 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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