CKDdb-logoCKDdb - Molecule ID A1241

geneBLM, RECQ2, RECQL3
nameBloom's syndrome protein
speciesHomo sapiens

Molecule reference

SwissProtUniProtEnsEMBLGeneIDUniGeneOMIM
BLM_HUMANP54132ENSG00000197299641Hs.725208210900, 604610

Functions and classifications

GOC:cytoplasm, C:lateral element, C:male germ cell nucleus, C:nuclear matrix, C:nucleolus, C:PML body, C:pronucleus, C:replication fork, F:annealing helicase activity, F:ATP binding, F:ATP-dependent 3'-5' DNA helicase activity, F:ATP-dependent DNA helicase activity, F:bubble DNA binding, F:four-way junction helicase activity, F:G-quadruplex DNA binding, F:single-stranded DNA binding, P:alpha-beta T cell differentiation, P:cellular response to camptothecin, P:cellular response to hydroxyurea, P:cellular response to ionizing radiation, P:DNA double-strand break processing, P:double-strand break repair via homologous recombination, P:G2 DNA damage checkpoint, P:mitotic G2 phase, P:negative regulation of cell division, P:negative regulation of DNA recombination, P:negative regulation of mitotic recombination, P:negative regulation of thymocyte apoptotic process, P:positive regulation of alpha-beta T cell proliferation, P:positive regulation of transcription, DNA-templated, P:protein oligomerization, P:regulation of binding, P:regulation of cyclin-dependent protein serine/threonine kinase activity, P:replication fork processing, P:replication fork protection, P:response to X-ray, P:telomere maintenance, C:intracellular, F:nucleic acid binding, P:ATP catabolic process, P:DNA duplex unwinding, P:DNA recombination, P:DNA repair, P:DNA replication, C:nucleus, F:DNA binding, C:nucleus, F:hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides, P:DNA replication, C:cytoplasm, P:G2 phase of mitotic cell cycle, P:G2/M transition DNA damage checkpoint, P:positive regulation of transcription, DNA-dependent, P:regulation of cyclin-dependent protein kinase activity
UniProt3D-structure, Acetylation, ATP-binding, Complete proteome, Disease mutation, DNA replication, DNA-binding, Dwarfism, Helicase, Hydrolase, Nucleotide-binding, Nucleus, Phosphoprotein, Polymorphism, Reference proteome
PADBenzyme, enzymatic properties

Studies, tissues and diseases

Study IDSpeciesNTissue / SourceCompartmentDiseaseFold change in diseaseP-valueDetectionPubMed/DOI
Exp19698090bHomo sapiens25bloodmononuclear cellsDialysis (hemodialysis)0.410.0000374RNA microarray19698090
Exp24172336Mus musculus6kidneycortexAKI (AKI)1.680.003379912LC-MS/MS24172336

Compile date 08-10-2018© iMODE-CKD consortium