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Protein

RecQ-mediated genome instability protein 2

Gene

RMI2

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. 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 keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi44 – 114OBAdd BLAST71

GO - Molecular functioni

GO - Biological processi

  • DNA replication Source: Reactome
  • regulation of sister chromatid segregation Source: UniProtKB

Keywordsi

Molecular functionDNA-binding
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 2
Short name:
hRMI2
Alternative name(s):
BLM-associated protein of 18 kDa
Short name:
BLAP18
Gene namesi
Name:RMI2
Synonyms:C16orf75
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000175643.8
HGNCiHGNC:28349 RMI2
MIMi612426 gene
neXtProtiNX_Q96E14

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

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 keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi24K → A: Abolishes interaction with RMI1, TOP3A and BLM. 1 Publication1
Mutagenesisi59W → 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 Publication1
Mutagenesisi100K → A: Does not affect interaction with RMI1, TOP3A and BLM. 1 Publication1
Mutagenesisi121K → 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 Publications1
Mutagenesisi135W → A: Abolishes interaction with RMI1, TOP3A and BLM. 1 Publication1

Organism-specific databases

DisGeNETi116028
OpenTargetsiENSG00000175643
PharmGKBiPA145149635

Polymorphism and mutation databases

BioMutaiRMI2
DMDMi74731517

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002975772 – 147RecQ-mediated genome instability protein 2Add BLAST146

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei7PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylated during mitosis.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ96E14
MaxQBiQ96E14
PaxDbiQ96E14
PeptideAtlasiQ96E14
PRIDEiQ96E14
ProteomicsDBi76362
76363 [Q96E14-2]

PTM databases

iPTMnetiQ96E14
PhosphoSitePlusiQ96E14

Expressioni

Gene expression databases

BgeeiENSG00000175643
CleanExiHS_C16orf75
ExpressionAtlasiQ96E14 baseline and differential
GenevisibleiQ96E14 HS

Organism-specific databases

HPAiHPA040995

Interactioni

Subunit structurei

Component of the RMI complex, containing at least TOP3A, RMI1 and RMI2. The RMI complex interacts with BLM.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
RMI1Q9H9A713EBI-15876491,EBI-621339

Protein-protein interaction databases

BioGridi125466, 15 interactors
ComplexPortaliCPX-3301 BTR double Holliday Junction dissolution complex
DIPiDIP-56480N
IntActiQ96E14, 8 interactors
MINTiQ96E14
STRINGi9606.ENSP00000310356

Structurei

Secondary structure

1147
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi27 – 33Combined sources7
Beta strandi34 – 36Combined sources3
Beta strandi40 – 43Combined sources4
Turni46 – 49Combined sources4
Beta strandi56 – 68Combined sources13
Beta strandi71 – 76Combined sources6
Beta strandi79 – 84Combined sources6
Helixi86 – 88Combined sources3
Beta strandi92 – 94Combined sources3
Beta strandi101 – 110Combined sources10
Beta strandi112 – 114Combined sources3
Beta strandi116 – 124Combined sources9
Helixi130 – 143Combined sources14

3D structure databases

ProteinModelPortaliQ96E14
SMRiQ96E14
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the RMI2 family.Curated

Phylogenomic databases

eggNOGiENOG410IXR6 Eukaryota
ENOG41120UE LUCA
GeneTreeiENSGT00390000001653
HOGENOMiHOG000154149
HOVERGENiHBG108410
InParanoidiQ96E14
KOiK15365
OMAiAAVWMQG
OrthoDBiEOG091G0SYG
PhylomeDBiQ96E14
TreeFamiTF332971

Family and domain databases

InterProiView protein in InterPro
IPR032245 RMI2
PANTHERiPTHR33962 PTHR33962, 1 hit
PfamiView protein in Pfam
PF16100 RMI2, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96E14-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:147
Mass (Da):15,865
Last modified:March 1, 2004 - v2
Checksum:iC385825F9AB4439E
GO
Isoform 2 (identifier: Q96E14-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-98: MAAAADSFSG...VPRGRPCLVP → MKQTQVGSLFSLGIRNPEPGPVSGTAVPRQLAWKS

Note: No experimental confirmation available.
Show »
Length:84
Mass (Da):9,262
Checksum:iDAFD4A80EF28023B
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0272871 – 98MAAAA…PCLVP → MKQTQVGSLFSLGIRNPEPG PVSGTAVPRQLAWKS in isoform 2. 1 PublicationAdd BLAST98

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
CCDSiCCDS10548.1 [Q96E14-1]
RefSeqiNP_689521.1, NM_152308.2 [Q96E14-1]
UniGeneiHs.347524

Genome annotation databases

EnsembliENST00000312499; ENSP00000310356; ENSG00000175643 [Q96E14-1]
ENST00000572173; ENSP00000461206; ENSG00000175643 [Q96E14-2]
GeneIDi116028
KEGGihsa:116028
UCSCiuc002daw.2 human [Q96E14-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiRMI2_HUMAN
AccessioniPrimary (citable) accession number: Q96E14
Secondary accession number(s): B3KVZ6, Q49AE2, Q8TBL0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 21, 2007
Last sequence update: March 1, 2004
Last modified: June 20, 2018
This is version 119 of the entry and version 2 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 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

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