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Details on Person UniProt:Q96E14-1 RMI2

Class:IdReferenceIsoform:412718
_chainChangeLoginitiator methionine:1 added on Fri February 6 2015;chain:2-147 added on Fri February 6 2015;initiator methionine:1 for 412718 removed on Fri Nov 03 2023;initiator methionine: for 412718 added on Fri Nov 03 2023;initiator methionine: for 412718 removed on Fri Aug 15 2025;initiator methionine:1 for 412718 added on Fri Aug 15 2025
_displayNameUniProt:Q96E14-1 RMI2
_timestamp2025-08-15 21:10:42
chaininitiator methionine:1
chain:2-147
checksumC385825F9AB4439E
commentFUNCTION 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.SUBUNIT Component of the RMI complex, containing at least TOP3A, RMI1 and RMI2. The RMI complex interacts with BLM.INTERACTION Colocalizes with BLM at nuclear DNA repair foci.ALTERNATIVE PRODUCTS Phosphorylated during mitosis.DISEASE 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.SIMILARITY Belongs to the RMI2 family.
created[InstanceEdit:400710] Schmidt, EE, 2009-03-25 05:33:35
descriptionrecommendedName: RecQ-mediated genome instability protein 2 shortName: hRMI2 alternativeName: BLM-associated protein of 18 kDa shortName: BLAP18
geneNameRMI2
C16orf75
identifierQ96E14
isoformParent
isSequenceChangedFALSE
keyword3D-structure
Acetylation
Alternative splicing
DNA replication
DNA-binding
Nucleus
Phosphoprotein
Proteomics identification
Reference proteome
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
[InstanceEdit:9963647] Weiser, Joel, 2025-08-15
nameRMI2
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8999735] ENSEMBL:ENSG00000175643 RMI2 [Homo sapiens]
secondaryIdentifierRMI2_HUMAN
B3KVZ6
Q49AE2
Q8TBL0
sequenceLength147
species[Species:48887] Homo sapiens
variantIdentifierQ96E14-1
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No pathways have been reviewed or authored by UniProt:Q96E14-1 RMI2 (412718)
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