Type |
Details |
Score |
Allele |
Name: |
Bloom syndrome, RecQ like helicase; targeted mutation 1, Kyoji Horie |
Allele Type: |
Targeted |
Attribute String: |
Hypomorph |
|
•
•
•
•
•
|
Publication |
First Author: |
Nimonkar AV |
Year: |
2011 |
Journal: |
Genes Dev |
Title: |
BLM-DNA2-RPA-MRN and EXO1-BLM-RPA-MRN constitute two DNA end resection machineries for human DNA break repair. |
Volume: |
25 |
Issue: |
4 |
Pages: |
350-62 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wan L |
Year: |
2013 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair. |
Volume: |
110 |
Issue: |
26 |
Pages: |
10646-51 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
This is the very N-terminal region of chordate RecQ-like DNA helicase BLM proteins. BLM participates in DNA replication and repair [, , , , ]. This domain, together with , may play a role in regulation and oligomerization of BLM. These domains are also important in mediating interactions with partner proteins []. |
|
•
•
•
•
•
|
Publication |
First Author: |
Karow JK |
Year: |
1997 |
Journal: |
J Biol Chem |
Title: |
The Bloom's syndrome gene product is a 3'-5' DNA helicase. |
Volume: |
272 |
Issue: |
49 |
Pages: |
30611-4 |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant stock, targeted mutation |
|
•
•
•
•
•
|
Strain |
Attribute String: |
targeted mutation, coisogenic, mutant strain |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
This is a C-terminal domain in RecQ-like DNA helicase BLM subfamily []. The helicase participates in DNA replication and repair, exhibiting a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Homologous_superfamily |
Description: |
This entry represents the N-terminal OB-fold domain of RMI (RecQ-mediated genome instability protein) proteins []. This domain forms a stable complex with Bloom syndrome protein BLM and DNA topoisomerase 3-alpha []. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
This entry represents the N-terminal domain of RMI1 (RecQ-mediated genome instability protein 1) and similar proteins []. This domain carries an oligo-nucleotide-binding domain or OB-fold, and forms a stable complex with Bloom syndrome protein BLM and DNA topoisomerase 3-alpha []. |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
212
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Singh TR |
Year: |
2008 |
Journal: |
Genes Dev |
Title: |
BLAP18/RMI2, a novel OB-fold-containing protein, is an essential component of the Bloom helicase-double Holliday junction dissolvasome. |
Volume: |
22 |
Issue: |
20 |
Pages: |
2856-68 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
This domain is found on RecQ-like DNA helicase BLM in higher eukaryotes []. It lies between the BDHCT (), and DEAD-box domains (). This domain, together with , may play a role in regulation and oligomerization of BLM. These domains are also important in mediating interactions with partner proteins []. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Homologous_superfamily |
Description: |
This entry represents the N-terminal helical domain of RMI 1 (RecQ-mediated genome instability protein) proteins from metazoa []. This domain is found at the N-terminal of an oligo-nucleotide-binding domain or OB-fold, and forms a stable complex with Bloom syndrome protein BLM and DNA topoisomerase 3-alpha [, ]. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
This entry represents the N-terminal helical domain of RMI 1 (RecQ-mediated genome instability protein 1) and similar proteins []. This domain is found at the N-terminal of an oligo-nucleotide-binding domain or OB-fold, and forms a stable complex with Bloom syndrome protein BLM and DNA topoisomerase 3-alpha [, ]. |
|
•
•
•
•
•
|
Publication |
First Author: |
Dumas P |
Year: |
1994 |
Journal: |
EMBO J |
Title: |
Crystal structure and site-directed mutagenesis of a bleomycin resistance protein and their significance for drug sequestering. |
Volume: |
13 |
Issue: |
11 |
Pages: |
2483-92 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
Bleomycin (Blm) is a glycopeptide antibiotic produced naturally by actinomycetes. It is a strong DNA-cutting agent and thus finds use as a potent anti-cancer drug. The DNA-cutting mechanism is complex, involving concomitant oxidation of FeII and reduction of oxygen. Inaddition to iron, Blm binds other transition metals: cobalt, nickel, copper and zinc. Actinomycetes have developed a defence mechanism against this lethal compound, producing a protein that confers resistance to Blm through drug sequestering.The crystal structure of the bleomycin resistance protein reveals 2identically-folded halves, each having an alpha/beta fold but showing nosequence similarity []. Each half comprises a 4-stranded β-sheet anda short α-helix (3 turns). The sheets within each half lie roughly atright-angles and are related by an approximate 2-fold axis. The crystalpacking shows compact dimers that have a hydrophobic interface and areinvolved in mutual chain exchange. |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
616
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Xu D |
Year: |
2008 |
Journal: |
Genes Dev |
Title: |
RMI, a new OB-fold complex essential for Bloom syndrome protein to maintain genome stability. |
Volume: |
22 |
Issue: |
20 |
Pages: |
2843-55 |
|
•
•
•
•
•
|
Publication |
First Author: |
Newman JA |
Year: |
2015 |
Journal: |
Nucleic Acids Res |
Title: |
Crystal structure of the Bloom's syndrome helicase indicates a role for the HRDC domain in conformational changes. |
Volume: |
43 |
Issue: |
10 |
Pages: |
5221-35 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wallace ME |
Year: |
1971 |
Journal: |
Mouse News Lett |
Title: |
Unco-ordinated, uc (now = ml) |
Volume: |
44 |
|
Pages: |
18 |
|
•
•
•
•
•
|
Publication |
First Author: |
Morozov V |
Year: |
1997 |
Journal: |
Trends Biochem Sci |
Title: |
A putative nucleic acid-binding domain in Bloom's and Werner's syndrome helicases. |
Volume: |
22 |
Issue: |
11 |
Pages: |
417-8 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
155
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
42
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
The HRDC (helicase and RNaseD C-terminal) domain is comprised of two orthogonally packed α-hairpin subdomains, and is involved in interactions with DNA and protein. It has been suggested that this domain plays a role dissolving double Holliday junctions efficiently [].HRDC domains are found at the C terminus of many RecQ helicases, including the human Bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN and RecQ-like DNA helicase BLM [, ]. RecQ helicases have been shown to unwind DNA in an ATP-dependent manner. The structure of the HRDC domain consists of a 4-5 helical bundle of two orthogonally packed alpha-hairpins, and as such it resembles auxiliary domains in bacterial DNA helicases and other proteins that interact with nucleic acids. A positively charged region on the surface of the HRDC domain is able to interact with DNA.The HRDC domain is also present in eukaryotic and archaeal RNA polymerase II subunit RBP4, the N-terminal of which forms a heterodimerisation α-hairpin [, ].The HRDC domain has a putative role in nucleic acid binding. Mutations in the HRDC domain associated with the human BLM gene result in Bloom Syndrome (BS), an autosomal recessive disorder characterised by proportionate pre- and postnatal growth deficiency; sun-sensitive, telangiectatic, hypo- and hyperpigmented skin; predisposition to malignancy; and chromosomal instability []. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Homologous_superfamily |
Description: |
The HRDC (helicase and RNaseD C-terminal) domain is comprised of two orthogonally packed α-hairpin subdomains, and is involved in interactions with DNA and protein. It has been suggested that this domain plays a role dissolving double Holliday junctions efficiently [].HRDC domains are found at the C terminus of many RecQ helicases, including the human Bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN and RecQ-like DNA helicase BLM [, ]. RecQ helicases have been shown to unwind DNA in an ATP-dependent manner. The structure of the HRDC domain consists of a 4-5 helical bundle of two orthogonally packed alpha-hairpins, and as such it resembles auxiliary domains in bacterial DNA helicases and other proteins that interact with nucleic acids. A positively charged region on the surface of the HRDC domain is able to interact with DNA.The HRDC domain is also present in eukaryotic and archaeal RNA polymerase II subunit RBP4, the N-terminal of which forms a heterodimerisation α-hairpin [, ].The HRDC domain has a putative role in nucleic acid binding. Mutations in the HRDC domain associated with the human BLM gene result in Bloom Syndrome (BS), an autosomal recessive disorder characterised by proportionate pre- and postnatal growth deficiency; sun-sensitive, telangiectatic, hypo- and hyperpigmented skin; predisposition to malignancy; and chromosomal instability []. |
|
•
•
•
•
•
|
Publication |
First Author: |
Liu Z |
Year: |
1999 |
Journal: |
Structure |
Title: |
The three-dimensional structure of the HRDC domain and implications for the Werner and Bloom syndrome proteins. |
Volume: |
7 |
Issue: |
12 |
Pages: |
1557-66 |
|
•
•
•
•
•
|
Publication |
First Author: |
Armache KJ |
Year: |
2005 |
Journal: |
J Biol Chem |
Title: |
Structures of complete RNA polymerase II and its subcomplex, Rpb4/7. |
Volume: |
280 |
Issue: |
8 |
Pages: |
7131-4 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ichikawa K |
Year: |
2002 |
Journal: |
Nihon Yakurigaku Zasshi |
Title: |
[Preparation of the gene targeted knockout mice for human premature aging diseases, Werner syndrome, and Rothmund-Thomson syndrome caused by the mutation of DNA helicases]. |
Volume: |
119 |
Issue: |
4 |
Pages: |
219-26 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kuriyama S |
Year: |
1999 |
Journal: |
Int J Oncol |
Title: |
Antitumor effect of electrochemotherapy on colorectal carcinoma in an orthotopic mouse model. |
Volume: |
14 |
Issue: |
2 |
Pages: |
321-6 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Homologous_superfamily |
Description: |
This superfamily represents the HRDC (helicase and RNaseD C-terminal) domain, which comprises two orthogonally packed α-hairpin subdomains, and is involved in interactions with DNA and protein. The HRDC (helicase and RNaseD C-terminal) domain is found at the C terminus of many RecQ helicases, including the human Bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN and RecQ-like DNA helicase BLM (previously known as Werner and Bloom syndrome proteins) []. RecQ helicases have been shown to unwind DNA in an ATP-dependent manner. The structure of the HRDC domain consists of a 4-5 helical bundle of two orthogonally packed α-hairpins, and as such it resembles auxiliary domains in bacterial DNA helicases and other proteins that interact with nucleic acids. A positively charged region on the surface of the HRDC domain is able to interact with DNA.The HRDC domain is also present in eukaryotic and archaeal RNA polymerase II subunit RBP4, the N-terminal of which forms a heterodimerisation α-hairpin [, ]. |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
517
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
436
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Vannier JB |
Year: |
2012 |
Journal: |
Cell |
Title: |
RTEL1 dismantles T loops and counteracts telomeric G4-DNA to maintain telomere integrity. |
Volume: |
149 |
Issue: |
4 |
Pages: |
795-806 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wallace ME |
Year: |
1971 |
Journal: |
Mouse News Lett |
Title: |
Dilution-Peru |
Volume: |
44 |
|
Pages: |
18 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sfeir A |
Year: |
2009 |
Journal: |
Cell |
Title: |
Mammalian telomeres resemble fragile sites and require TRF1 for efficient replication. |
Volume: |
138 |
Issue: |
1 |
Pages: |
90-103 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sakamoto H |
Year: |
2002 |
Journal: |
Exp Mol Pathol |
Title: |
IL-12p40(-/-) mice treated with intratracheal bleomycin exhibit decreased pulmonary inflammation and increased fibrosis. |
Volume: |
72 |
Issue: |
1 |
Pages: |
1-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wang Y |
Year: |
2021 |
Journal: |
Sci Adv |
Title: |
MBD2 serves as a viable target against pulmonary fibrosis by inhibiting macrophage M2 program. |
Volume: |
7 |
Issue: |
1 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Li YJ |
Year: |
2017 |
Journal: |
Int J Mol Sci |
Title: |
Nrf2 Regulates the Risk of a Diesel Exhaust Inhalation-Induced Immune Response during Bleomycin Lung Injury and Fibrosis in Mice. |
Volume: |
18 |
Issue: |
3 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Sunaga H |
Year: |
2013 |
Journal: |
Nat Commun |
Title: |
Deranged fatty acid composition causes pulmonary fibrosis in Elovl6-deficient mice. |
Volume: |
4 |
|
Pages: |
2563 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ishida Y |
Year: |
2017 |
Journal: |
Sci Rep |
Title: |
Essential involvement of the CX3CL1-CX3CR1 axis in bleomycin-induced pulmonary fibrosis via regulation of fibrocyte and M2 macrophage migration. |
Volume: |
7 |
Issue: |
1 |
Pages: |
16833 |
|
•
•
•
•
•
|
Publication |
First Author: |
Nakazawa Y |
Year: |
2019 |
Journal: |
J Immunol |
Title: |
Cutting Edge: Involvement of the Immunoreceptor CD300c2 on Alveolar Macrophages in Bleomycin-Induced Lung Fibrosis. |
Volume: |
203 |
Issue: |
12 |
Pages: |
3107-3111 |
|
•
•
•
•
•
|
Publication |
First Author: |
Suliman HB |
Year: |
2022 |
Journal: |
iScience |
Title: |
Nuclear respiratory factor-1 negatively regulates TGF-β1 and attenuates pulmonary fibrosis. |
Volume: |
25 |
Issue: |
1 |
Pages: |
103535 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lee TH |
Year: |
2020 |
Journal: |
Nat Commun |
Title: |
Fibroblast-enriched endoplasmic reticulum protein TXNDC5 promotes pulmonary fibrosis by augmenting TGFβ signaling through TGFBR1 stabilization. |
Volume: |
11 |
Issue: |
1 |
Pages: |
4254 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ng B |
Year: |
2020 |
Journal: |
FASEB J |
Title: |
Fibroblast-specific IL11 signaling drives chronic inflammation in murine fibrotic lung disease. |
Volume: |
34 |
Issue: |
9 |
Pages: |
11802-11815 |
|
•
•
•
•
•
|
Publication |
First Author: |
Prakash R |
Year: |
2021 |
Journal: |
Nat Commun |
Title: |
Distinct pathways of homologous recombination controlled by the SWS1-SWSAP1-SPIDR complex. |
Volume: |
12 |
Issue: |
1 |
Pages: |
4255 |
|
•
•
•
•
•
|
Publication |
First Author: |
Schmutz I |
Year: |
2017 |
Journal: |
Nat Struct Mol Biol |
Title: |
TRF2 binds branched DNA to safeguard telomere integrity. |
Volume: |
24 |
Issue: |
9 |
Pages: |
734-742 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
72
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Antony E |
Year: |
2003 |
Journal: |
Biochemistry |
Title: |
Mismatch recognition-coupled stabilization of Msh2-Msh6 in an ATP-bound state at the initiation of DNA repair. |
Volume: |
42 |
Issue: |
25 |
Pages: |
7682-93 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
This entry represents the DNA mismatch repair protein Msh2 (homologous to bacterial MutS) from eukaryotes. Msh2-Msh6 complex recognises base pair mismatches and small insertion/deletions in DNA and initiates repair []. Human Msh2-Msh6 complex has been shown to regulate BLM helicase in response tothe damaged DNA forks during double-stranded break repair []. Mismatch repair (MMR) is one of five major DNA repair pathways. The mismatch repair system recognises and repairs mispaired or unpaired nucleotides that result from errors in DNA replication. The most extensively studied general MMR system is the MutHLS pathway of the bacterium Escherichia coli. In the first step of the MutHLS pathway, the MutS protein (in the form of a dimer) binds to the site of a mismatch in double-stranded DNA. Through a complex interaction between MutS, MutL and MutH, a section of the newly replicated DNA strand (and thus the strand with the replication error) at the location of the mismatch bound by MutS is targeted for removal []. Homologues of MutS have been found in many species including eukaryotes, Archaea and other bacteria, and together these proteins have been grouped into the MutS family. |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
887
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
705
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
887
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
618
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
887
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
862
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Todone F |
Year: |
2001 |
Journal: |
Mol Cell |
Title: |
Structure of an archaeal homolog of the eukaryotic RNA polymerase II RPB4/RPB7 complex. |
Volume: |
8 |
Issue: |
5 |
Pages: |
1137-43 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1416
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1419
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
McNairn AJ |
Year: |
2017 |
Journal: |
Genetics |
Title: |
Repair of Meiotic DNA Breaks and Homolog Pairing in Mouse Meiosis Requires a Minichromosome Maintenance (MCM) Paralog. |
Volume: |
205 |
Issue: |
2 |
Pages: |
529-537 |
|
•
•
•
•
•
|
Publication |
First Author: |
Higuchi S |
Year: |
2016 |
Journal: |
J Immunol |
Title: |
EP4 Receptor-Associated Protein in Macrophages Protects against Bleomycin-Induced Pulmonary Inflammation in Mice. |
Volume: |
197 |
Issue: |
11 |
Pages: |
4436-4443 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ohhata T |
Year: |
2000 |
Journal: |
Gene |
Title: |
Cloning, genomic structure and chromosomal localization of the gene encoding mouse DNA helicase RecQ helicase protein-like 4. |
Volume: |
261 |
Issue: |
2 |
Pages: |
251-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ohhata T |
Year: |
2001 |
Journal: |
Gene |
Title: |
Cloning, genomic structure and chromosomal localization of the gene encoding mouse DNA helicase RECQL5beta. |
Volume: |
280 |
Issue: |
1-2 |
Pages: |
59-66 |
|
•
•
•
•
•
|
Publication |
First Author: |
Böhm M |
Year: |
2014 |
Journal: |
Exp Dermatol |
Title: |
Bleomycin-induced fibrosis in MC1 signalling-deficient C57BL/6J-Mc1r(e/e) mice further supports a modulating role for melanocortins in collagen synthesis of the skin. |
Volume: |
23 |
Issue: |
6 |
Pages: |
431-3 |
|
•
•
•
•
•
|
Publication |
First Author: |
Moog MT |
Year: |
2022 |
Journal: |
J Immunol |
Title: |
B Cells Are Not Involved in the Regulation of Adenoviral TGF-β1- or Bleomycin-Induced Lung Fibrosis in Mice. |
Volume: |
208 |
Issue: |
5 |
Pages: |
1259-1271 |
|
•
•
•
•
•
|
Publication |
First Author: |
Arras M |
Year: |
2005 |
Journal: |
Am J Pathol |
Title: |
IL-9 protects against bleomycin-induced lung injury: involvement of prostaglandins. |
Volume: |
166 |
Issue: |
1 |
Pages: |
107-15 |
|
•
•
•
•
•
|
Publication |
First Author: |
Saito F |
Year: |
2008 |
Journal: |
Am J Respir Cell Mol Biol |
Title: |
Role of interleukin-6 in bleomycin-induced lung inflammatory changes in mice. |
Volume: |
38 |
Issue: |
5 |
Pages: |
566-71 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kitaba S |
Year: |
2012 |
Journal: |
Am J Pathol |
Title: |
Blockade of interleukin-6 receptor alleviates disease in mouse model of scleroderma. |
Volume: |
180 |
Issue: |
1 |
Pages: |
165-76 |
|
•
•
•
•
•
|
Publication |
First Author: |
Bhandary YP |
Year: |
2013 |
Journal: |
Am J Pathol |
Title: |
Regulation of lung injury and fibrosis by p53-mediated changes in urokinase and plasminogen activator inhibitor-1. |
Volume: |
183 |
Issue: |
1 |
Pages: |
131-43 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ishida Y |
Year: |
2007 |
Journal: |
Am J Pathol |
Title: |
Essential roles of the CC chemokine ligand 3-CC chemokine receptor 5 axis in bleomycin-induced pulmonary fibrosis through regulation of macrophage and fibrocyte infiltration. |
Volume: |
170 |
Issue: |
3 |
Pages: |
843-54 |
|
•
•
•
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