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Protein

RecQ-mediated genome instability protein 2

Gene

RMI2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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. The complex is therefore essential for the stability, localization, and function of 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.2 Publications

Regions

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

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

DNA replication

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000175643-MONOMER.
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

HGNCiHGNC:28349. RMI2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

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.

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

Protein-protein interaction databases

BioGridi125466. 14 interactors.
DIPiDIP-56480N.
IntActiQ96E14. 6 interactors.
MINTiMINT-8048937.
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

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3MXNX-ray1.55B1-147[»]
3NBHX-ray2.00B6-147[»]
4DAYX-ray3.30B1-147[»]
ProteinModelPortaliQ96E14.
SMRiQ96E14.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the RMI2 family.Curated
Contains 1 OB DNA-binding domain.Curated

Phylogenomic databases

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

Family and domain databases

InterProiIPR032245. RMI2.
[Graphical view]
PfamiPF16100. RMI2. 1 hit.
[Graphical view]

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

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

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3MXNX-ray1.55B1-147[»]
3NBHX-ray2.00B6-147[»]
4DAYX-ray3.30B1-147[»]
ProteinModelPortaliQ96E14.
SMRiQ96E14.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125466. 14 interactors.
DIPiDIP-56480N.
IntActiQ96E14. 6 interactors.
MINTiMINT-8048937.
STRINGi9606.ENSP00000310356.

PTM databases

iPTMnetiQ96E14.
PhosphoSitePlusiQ96E14.

Polymorphism and mutation databases

BioMutaiRMI2.
DMDMi74731517.

Proteomic databases

EPDiQ96E14.
MaxQBiQ96E14.
PaxDbiQ96E14.
PeptideAtlasiQ96E14.
PRIDEiQ96E14.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi116028.
DisGeNETi116028.
GeneCardsiRMI2.
H-InvDBHIX0012817.
HGNCiHGNC:28349. RMI2.
HPAiHPA040995.
MIMi612426. gene.
neXtProtiNX_Q96E14.
OpenTargetsiENSG00000175643.
PharmGKBiPA145149635.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000175643-MONOMER.
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

ChiTaRSiRMI2. human.
GenomeRNAii116028.
PROiQ96E14.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000175643.
CleanExiHS_C16orf75.
ExpressionAtlasiQ96E14. baseline and differential.
GenevisibleiQ96E14. HS.

Family and domain databases

InterProiIPR032245. RMI2.
[Graphical view]
PfamiPF16100. RMI2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRMI2_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 111 of the entry and version 2 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.