UniProtKB - Q96E14 (RMI2_HUMAN)
Protein
RecQ-mediated genome instability protein 2
Gene
RMI2
Organism
Homo sapiens (Human)
Status
Functioni
Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates. It is required to regulate sister chromatid segregation and to limit DNA crossover. Essential for the stability, localization, and function of BLM, TOP3A, and complexes containing BLM. In the RMI complex, it is required to target BLM to chromatin and stress-induced nuclear foci and mitotic phosphorylation of BLM.3 Publications
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 44 – 114 | OBAdd BLAST | 71 |
GO - Molecular functioni
- DNA binding Source: UniProtKB-KW
GO - Biological processi
- DNA repair Source: GO_Central
- DNA replication Source: Reactome
- maintenance of rDNA Source: GO_Central
- negative regulation of double-strand break repair via homologous recombination Source: GO_Central
- regulation of signal transduction by p53 class mediator Source: Reactome
- regulation of sister chromatid segregation Source: UniProtKB
Keywordsi
Molecular function | DNA-binding |
Biological process | DNA replication |
Enzyme and pathway databases
PathwayCommonsi | Q96E14 |
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 |
Names & Taxonomyi
Protein namesi | Recommended name: RecQ-mediated genome instability protein 2Short name: hRMI2 Alternative name(s): BLM-associated protein of 18 kDa Short name: BLAP18 |
Gene namesi | Name:RMI2 Synonyms:C16orf75 |
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:28349, RMI2 |
MIMi | 612426, gene |
neXtProti | NX_Q96E14 |
VEuPathDBi | HostDB:ENSG00000175643.8 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Note: Colocalizes with BLM at nuclear DNA repair foci.
Cytosol
- cytosol Source: HPA
Nucleus
- nuclear speck Source: HPA
- nucleoplasm Source: Reactome
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
A homozygous deletion of RMI2 has been found in a family with a Bloom-like syndrome and is probable responsible for the phenotype. Patients manifest depigmented skin lesions, multiple cafe-au-lait macules, and growth deficiency. Cells from affected individuals show a high rate of sister chromatid exchange and increased chromosomal breaks.1 Publication
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 24 | K → A: Abolishes interaction with RMI1, TOP3A and BLM. 1 Publication | 1 | |
Mutagenesisi | 59 | W → A: According to PubMed:18923083, abolishes interaction with RMI1, TOP3A and BLM. According to PubMed:18923082, does not affects interaction with RMI1 and TOP3A. 1 Publication | 1 | |
Mutagenesisi | 100 | K → A: Does not affect interaction with RMI1, TOP3A and BLM. 1 Publication | 1 | |
Mutagenesisi | 121 | K → A: According to PubMed:18923083, does not affect interaction with RMI1, TOP3A and BLM. According to PubMed:18923082, affects interaction with BLM and the BMI complex. 2 Publications | 1 | |
Mutagenesisi | 135 | W → A: Abolishes interaction with RMI1, TOP3A and BLM. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 116028 |
MalaCardsi | RMI2 |
OpenTargetsi | ENSG00000175643 |
Orphaneti | 508512, Congenital multiple cafe-au-lait macules-increased sister chromatid exchange syndrome |
PharmGKBi | PA145149635 |
Miscellaneous databases
Pharosi | Q96E14, Tbio |
Genetic variation databases
BioMutai | RMI2 |
DMDMi | 74731517 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000297577 | 2 – 147 | RecQ-mediated genome instability protein 2Add BLAST | 146 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources | 1 | |
Modified residuei | 7 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Phosphorylated during mitosis.1 Publication
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q96E14 |
jPOSTi | Q96E14 |
MassIVEi | Q96E14 |
MaxQBi | Q96E14 |
PaxDbi | Q96E14 |
PeptideAtlasi | Q96E14 |
PRIDEi | Q96E14 |
ProteomicsDBi | 76362 [Q96E14-1] 76363 [Q96E14-2] |
PTM databases
iPTMneti | Q96E14 |
PhosphoSitePlusi | Q96E14 |
Expressioni
Gene expression databases
Bgeei | ENSG00000175643, Expressed in ventricular zone and 161 other tissues |
ExpressionAtlasi | Q96E14, baseline and differential |
Genevisiblei | Q96E14, HS |
Organism-specific databases
HPAi | ENSG00000175643, Tissue enhanced (lymphoid tissue, testis) |
Interactioni
Subunit structurei
Component of the RMI complex, containing at least TOP3A, RMI1 and RMI2. The RMI complex interacts with BLM.
2 PublicationsBinary interactionsi
Hide detailsQ96E14
With | #Exp. | IntAct |
---|---|---|
RMI1 [Q9H9A7] | 4 | EBI-2555534,EBI-621339 |
Isoform 1 [Q96E14-1]
With | #Exp. | IntAct |
---|---|---|
RMI1 [Q9H9A7] | 13 | EBI-15876491,EBI-621339 |
Protein-protein interaction databases
BioGRIDi | 125466, 23 interactors |
ComplexPortali | CPX-3301, BTR double Holliday Junction dissolution complex |
DIPi | DIP-56480N |
IntActi | Q96E14, 11 interactors |
MINTi | Q96E14 |
STRINGi | 9606.ENSP00000310356 |
Miscellaneous databases
RNActi | Q96E14, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q96E14 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Sequence similaritiesi
Belongs to the RMI2 family.Curated
Phylogenomic databases
eggNOGi | ENOG502S4AN, Eukaryota |
GeneTreei | ENSGT00390000001653 |
HOGENOMi | CLU_2526905_0_0_1 |
InParanoidi | Q96E14 |
OMAi | RRMWKLE |
OrthoDBi | 1604165at2759 |
PhylomeDBi | Q96E14 |
TreeFami | TF332971 |
Family and domain databases
IDEALi | IID00419 |
InterProi | View protein in InterPro IPR032245, RMI2 |
PANTHERi | PTHR33962, PTHR33962, 1 hit |
Pfami | View protein in Pfam PF16100, RMI2, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q96E14-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAAAADSFSG GPAGVRLPRS PPLKVLAEQL RRDAEGGPGA WRLSRAAAGR
60 70 80 90 100
GPLDLAAVWM QGRVVMADRG EARLRDPSGD FSVRGLERVP RGRPCLVPGK
110 120 130 140
YVMVMGVVQA CSPEPCLQAV KMTDLSDNPI HESMWELEVE DLHRNIP
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketI3L2E0 | I3L2E0_HUMAN | RecQ-mediated genome instability pr... | RMI2 | 27 | Annotation score: | ||
A0A3B3ISX4 | A0A3B3ISX4_HUMAN | RecQ-mediated genome instability pr... | RMI2 | 111 | Annotation score: |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_027287 | 1 – 98 | MAAAA…PCLVP → MKQTQVGSLFSLGIRNPEPG PVSGTAVPRQLAWKS in isoform 2. 1 PublicationAdd BLAST | 98 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK123764 mRNA Translation: BAG53958.1 AC009121 Genomic DNA No translation available. CH471112 Genomic DNA Translation: EAW85155.1 BC013040 mRNA Translation: AAH13040.2 BC022427 mRNA Translation: AAH22427.1 BC031016 mRNA Translation: AAH31016.1 BC039361 mRNA Translation: AAH39361.1 |
CCDSi | CCDS10548.1 [Q96E14-1] |
RefSeqi | NP_689521.1, NM_152308.2 [Q96E14-1] |
Genome annotation databases
Ensembli | ENST00000312499; ENSP00000310356; ENSG00000175643 [Q96E14-1] ENST00000572173; ENSP00000461206; ENSG00000175643 [Q96E14-2] |
GeneIDi | 116028 |
KEGGi | hsa:116028 |
UCSCi | uc002daw.2, human [Q96E14-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK123764 mRNA Translation: BAG53958.1 AC009121 Genomic DNA No translation available. CH471112 Genomic DNA Translation: EAW85155.1 BC013040 mRNA Translation: AAH13040.2 BC022427 mRNA Translation: AAH22427.1 BC031016 mRNA Translation: AAH31016.1 BC039361 mRNA Translation: AAH39361.1 |
CCDSi | CCDS10548.1 [Q96E14-1] |
RefSeqi | NP_689521.1, NM_152308.2 [Q96E14-1] |
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 | B | 1-147 | [»] | |
3NBH | X-ray | 2.00 | B | 6-147 | [»] | |
4DAY | X-ray | 3.30 | B | 1-147 | [»] | |
SMRi | Q96E14 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 125466, 23 interactors |
ComplexPortali | CPX-3301, BTR double Holliday Junction dissolution complex |
DIPi | DIP-56480N |
IntActi | Q96E14, 11 interactors |
MINTi | Q96E14 |
STRINGi | 9606.ENSP00000310356 |
PTM databases
iPTMneti | Q96E14 |
PhosphoSitePlusi | Q96E14 |
Genetic variation databases
BioMutai | RMI2 |
DMDMi | 74731517 |
Proteomic databases
EPDi | Q96E14 |
jPOSTi | Q96E14 |
MassIVEi | Q96E14 |
MaxQBi | Q96E14 |
PaxDbi | Q96E14 |
PeptideAtlasi | Q96E14 |
PRIDEi | Q96E14 |
ProteomicsDBi | 76362 [Q96E14-1] 76363 [Q96E14-2] |
Protocols and materials databases
Antibodypediai | 52376, 38 antibodies |
Genome annotation databases
Ensembli | ENST00000312499; ENSP00000310356; ENSG00000175643 [Q96E14-1] ENST00000572173; ENSP00000461206; ENSG00000175643 [Q96E14-2] |
GeneIDi | 116028 |
KEGGi | hsa:116028 |
UCSCi | uc002daw.2, human [Q96E14-1] |
Organism-specific databases
CTDi | 116028 |
DisGeNETi | 116028 |
GeneCardsi | RMI2 |
HGNCi | HGNC:28349, RMI2 |
HPAi | ENSG00000175643, Tissue enhanced (lymphoid tissue, testis) |
MalaCardsi | RMI2 |
MIMi | 612426, gene |
neXtProti | NX_Q96E14 |
OpenTargetsi | ENSG00000175643 |
Orphaneti | 508512, Congenital multiple cafe-au-lait macules-increased sister chromatid exchange syndrome |
PharmGKBi | PA145149635 |
VEuPathDBi | HostDB:ENSG00000175643.8 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S4AN, Eukaryota |
GeneTreei | ENSGT00390000001653 |
HOGENOMi | CLU_2526905_0_0_1 |
InParanoidi | Q96E14 |
OMAi | RRMWKLE |
OrthoDBi | 1604165at2759 |
PhylomeDBi | Q96E14 |
TreeFami | TF332971 |
Enzyme and pathway databases
PathwayCommonsi | Q96E14 |
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 |
Miscellaneous databases
BioGRID-ORCSi | 116028, 61 hits in 1001 CRISPR screens |
GenomeRNAii | 116028 |
Pharosi | Q96E14, Tbio |
PROi | PR:Q96E14 |
RNActi | Q96E14, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000175643, Expressed in ventricular zone and 161 other tissues |
ExpressionAtlasi | Q96E14, baseline and differential |
Genevisiblei | Q96E14, HS |
Family and domain databases
IDEALi | IID00419 |
InterProi | View protein in InterPro IPR032245, RMI2 |
PANTHERi | PTHR33962, PTHR33962, 1 hit |
Pfami | View protein in Pfam PF16100, RMI2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RMI2_HUMAN | |
Accessioni | Q96E14Primary (citable) accession number: Q96E14 Secondary accession number(s): B3KVZ6, Q49AE2, Q8TBL0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 21, 2007 |
Last sequence update: | March 1, 2004 | |
Last modified: | April 7, 2021 | |
This is version 136 of the entry and version 2 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 16
Human chromosome 16: entries, gene names and cross-references to MIM - 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