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Search results 301 to 388 out of 388 for Fancd2

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Hits by Pathway

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Type Details Score
Protein
Q5XJY6
Organism: Mus musculus/domesticus
Length: 703  
Fragment?: false
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Protein
Q3TEX6
Organism: Mus musculus/domesticus
Length: 853  
Fragment?: false
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Protein
Q497Q5
Organism: Mus musculus/domesticus
Length: 236  
Fragment?: true
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Protein
B1AW75
Organism: Mus musculus/domesticus
Length: 706  
Fragment?: false
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Publication
20154706 | -
First Author: Cole AR
Year: 2010
Journal: Nat Struct Mol Biol
Title: The structure of the catalytic subunit FANCL of the Fanconi anemia core complex.
Volume: 17
Issue: 3
Pages: 294-8
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Publication
16720839 | -
First Author: Medhurst AL
Year: 2006
Journal: Blood
Title: Evidence for subcomplexes in the Fanconi anemia pathway.
Volume: 108
Issue: 6
Pages: 2072-80
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Publication
24910428 | -
First Author: Huang Y
Year: 2014
Journal: Cell Rep
Title: Modularized functions of the Fanconi anemia core complex.
Volume: 7
Issue: 6
Pages: 1849-57
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Publication
15611632 | -
First Author: Fei P
Year: 2005
Journal: Cell Cycle
Title: New advances in the DNA damage response network of Fanconi anemia and BRCA proteins. FAAP95 replaces BRCA2 as the true FANCB protein.
Volume: 4
Issue: 1
Pages: 80-6
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Publication
26658157 | J:244681
 
First Author: Du W
Year: 2015
Journal: Sci Rep
Title: Fancb deficiency impairs hematopoietic stem cell function.
Volume: 5
Pages: 18127
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Publication
19264559 | -
First Author: Alpi AF
Year: 2009
Journal: DNA Repair (Amst)
Title: Monoubiquitylation in the Fanconi anemia DNA damage response pathway.
Volume: 8
Issue: 4
Pages: 430-5
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Protein Domain
IPR031729 | Fanconi_A_N
Type: Domain
Description: Fanconi anemia (FA) is a human disorder characterized by cancer susceptibility and cellular sensitivity to DNA crosslinks and other damages. The FA complex repairs the interstrand cross-linking (ICL) lesions and coordinates activities of the downstream DNA repair pathway including nucleotide excision repair, translesion synthesis, and homologous recombination. It is required for the monoubiquitylation of FANCD2 and FANCI heterodimer. The FA core complex consists of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL, FANCM, FANCT (UBET2), FAAP100 and FAAP24 [, ].This entry represents the N-terminal domain of FANCA.
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Protein Domain
IPR039685 | FANCE
Type: Family
Description: Fanconi anemia (FA) is a human disorder characterized by cancer susceptibility and cellular sensitivity to DNA crosslinks and other damages. The FA complex repairs the interstrand cross-linking (ICL) lesions and coordinates activities of the downstream DNA repair pathway including nucleotide excision repair, translesion synthesis, and homologous recombination. It is required for the monoubiquitylation of FANCD2 and FANCI heterodimer. The FA core complex consists of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL, FANCM, FANCT (UBET2), FAAP100 and FAAP24 [, ].The FA group E protein (FANCE) has an important role in DNA repair, functioning as the FANCD2-binding protein in the FA core complex [].
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Protein Domain
IPR033333 | FANCB
Type: Family
Description: FANCB (also known as FAAP95) is a component of the Fanconi anemia (FA) core complex []. The FA core complex mediates FANCD2 ubiquitination, a key activation step in the FA DNA damage response pathway [, , ]. The FANCB and the FA pathway also play a critical role in germ cell development []and in the maintenance of hematopoietic stem cell function [].FA is a recessive genetic disorder characterised by congenital abnormalities, progressive bone marrow failure and cancer susceptibility []. Eight proteins (FANCA, B, C, E, F, G, L and M) encoded by the FA causative genes have been demonstrated to form the FA nuclear core complex.
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Publication
29017571 | -
First Author: Bhattacharjee S
Year: 2017
Journal: Cell Commun Signal
Title: DNA damage response and cancer therapeutics through the lens of the Fanconi Anemia DNA repair pathway.
Volume: 15
Issue: 1
Pages: 41
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Protein
Q9JL70
Organism: Mus musculus/domesticus
Length: 1439  
Fragment?: false
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Protein
B2RWU3
Organism: Mus musculus/domesticus
Length: 1439  
Fragment?: false
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Protein
D3Z6Y5
Organism: Mus musculus/domesticus
Length: 481  
Fragment?: false
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Protein
A0A0U1RQ41
Organism: Mus musculus/domesticus
Length: 111  
Fragment?: true
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Protein
F7CK17
Organism: Mus musculus/domesticus
Length: 771  
Fragment?: true
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Protein
A0A0U1RQ89
Organism: Mus musculus/domesticus
Length: 78  
Fragment?: true
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Publication
34373449 | J:312543
First Author: Xu L
Year: 2021
Journal: Cell Death Dis
Title: FANCI plays an essential role in spermatogenesis and regulates meiotic histone methylation.
Volume: 12
Issue: 8
Pages: 780
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Publication
25066130 | J:284692
First Author: Wang CQ
Year: 2014
Journal: Cell Rep
Title: Disruption of Runx1 and Runx3 leads to bone marrow failure and leukemia predisposition due to transcriptional and DNA repair defects.
Volume: 8
Issue: 3
Pages: 767-82
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Publication
18931676 | J:155922
First Author: Ishiai M
Year: 2008
Journal: Nat Struct Mol Biol
Title: FANCI phosphorylation functions as a molecular switch to turn on the Fanconi anemia pathway.
Volume: 15
Issue: 11
Pages: 1138-46
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Protein Coding Gene
MGI:1919135 | Faap100
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI:1920025 | Fance
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI:2142208 | Faap24
Type: protein_coding_gene
Organism: mouse, laboratory
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Publication
20347428 | -
First Author: Yan Z
Year: 2010
Journal: Mol Cell
Title: A histone-fold complex and FANCM form a conserved DNA-remodeling complex to maintain genome stability.
Volume: 37
Issue: 6
Pages: 865-78
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Protein
A2ACJ2
Organism: Mus musculus/domesticus
Length: 879  
Fragment?: false
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Protein
Q9D7M0
Organism: Mus musculus/domesticus
Length: 421  
Fragment?: false
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Publication
17452773 | -
First Author: Dorsman JC
Year: 2007
Journal: Cell Oncol
Title: Identification of the Fanconi anemia complementation group I gene, FANCI.
Volume: 29
Issue: 3
Pages: 211-8
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Publication
15502827 | -
First Author: Meetei AR
Year: 2004
Journal: Nat Genet
Title: X-linked inheritance of Fanconi anemia complementation group B.
Volume: 36
Issue: 11
Pages: 1219-24
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Publication
17396147 | -
First Author: Ling C
Year: 2007
Journal: EMBO J
Title: FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway.
Volume: 26
Issue: 8
Pages: 2104-14
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Publication
16633336 | -
First Author: Huang TT
Year: 2006
Journal: Nat Rev Mol Cell Biol
Title: Regulation of DNA repair by ubiquitylation.
Volume: 7
Issue: 5
Pages: 323-34
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Publication
16531995 | -
First Author: Huang TT
Year: 2006
Journal: Nat Cell Biol
Title: Regulation of monoubiquitinated PCNA by DUB autocleavage.
Volume: 8
Issue: 4
Pages: 339-47
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Publication
15694335 | -
First Author: Nijman SM
Year: 2005
Journal: Mol Cell
Title: The deubiquitinating enzyme USP1 regulates the Fanconi anemia pathway.
Volume: 17
Issue: 3
Pages: 331-9
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Publication
19686080 | -
 
First Author: Moldovan GL
Year: 2009
Journal: Annu Rev Genet
Title: How the fanconi anemia pathway guards the genome.
Volume: 43
Pages: 223-49
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Protein Domain
IPR026171 | FANCI
Type: Family
Description: Fanconi anemia complementation group I (FANCI) protein is a component of the Fanconi anemia DNA damage-response pathway []. The protein directly binds to a variety of DNA substrates []and plays an essential role in the repair of DNA double-strand breaks by homologous recombination. It is also involved in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL [].Defects in the FANCI gene are a cause of Fanconi anemia complementation group I []- a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
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Protein Domain
IPR026848 | Fancl
Type: Family
Description: Fanconi anemia (FA) is a human disorder characterized by cancer susceptibility and cellular sensitivity to DNA crosslinks and other damages. The FA complex repairs the interstrand cross-linking (ICL) lesions and coordinates activities of the downstream DNA repair pathway including nucleotide excision repair, translesion synthesis, and homologous recombination. It is required for the monoubiquitylation of FANCD2 and FANCI heterodimer. The FA core complex consists of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL, FANCM, FANCT (UBET2), FAAP100 and FAAP24 [, ].FANCL is an ubiquitin ligase that mediates monoubiquitination of FANCD2, a key step in the repair of interstrand DNA crosslinks (ICLs) in the Fanconi anemia (FA) pathway [, ]. In humans, defects in FANCL are the cause of Fanconi anemia complementation group L (FANCL). FANCL is a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair [, ].
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Protein Domain
IPR029251 | Faap100
Type: Family
Description: Fanconi anemia-associated protein of 100kDa (FAAP100) is component of the Fanconi anemia (FA) core complex, which plays a central role in FA-associated DNA damage response. FAAP100 is essential for the stability and function of the complex [].Fanconi anemia (FA) is a human disorder characterized by cancer susceptibility and cellular sensitivity to DNA crosslinks and other damages. The FA complex repairs the interstrand cross-linking (ICL) lesions and coordinates activities of the downstream DNA repair pathway including nucleotide excision repair, translesion synthesis, and homologous recombination. It is required for the monoubiquitylation of FANCD2 and FANCI heterodimer. The FA core complex consists of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL, FANCM, FANCT (UBET2), FAAP100 and FAAP24 [, ].
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Protein Domain
IPR033815 | USP1
Type: Domain
Description: Peptidase C19 contains ubiquitin hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquitinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl group of the C-terminal Gly residue of ubiquitin. The purpose of the de-ubiquitination is thought to be editing of the ubiquitin conjugates, which could rescue them from degradation, as well as recycling of the ubiquitin. The ubiquitin/proteasome system is responsible for most protein turnover in the mammalian cell, and with over 50 members, family C19 is one of the largest families of peptidases in the human genome [, ].This entry encompasses ubiquitin-specific hydrolase 1 (MEROPS identifier C19.019). It is required for deubiquitination of monoubiquitinated proteins involved in various DNA repair pathways and is a key regulator of DNA repair mechanisms []. Substrates include monoubiquitinated PCNA [], and components FANCD2 []and FANCI []of the Fanconi anemia pathway, a genetic disorder that resultsin the inability to monoubiquitinate these components [].
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Protein Domain
IPR035428 | FANCF
Type: Family
Description: Fanconi anemia (FA) is a human disorder characterized by cancer susceptibility and cellular sensitivity to DNA crosslinks and other damages. The FA complex repairs the interstrand cross-linking (ICL) lesions and coordinates activities of the downstream DNA repair pathway including nucleotide excision repair, translesion synthesis, and homologous recombination. It is required for the monoubiquitylation of FANCD2 and FANCI heterodimer. The FA core complex consists of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL, FANCM, FANCT (UBET2), FAAP100 and FAAP24 [, ].Fanconi anemia group F protein (FANCF) is a component of the FA core complex [, ]. FANCF regulates its own expression by methylation at both mRNA and protein levels. Methylation-induced inactivation of FANCF has an important role on the occurrence of ovarian cancers by disrupting the FA-BRCA pathway [].This entry also includes homologues from plants.
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Publication
17460694 | -
First Author: Sims AE
Year: 2007
Journal: Nat Struct Mol Biol
Title: FANCI is a second monoubiquitinated member of the Fanconi anemia pathway.
Volume: 14
Issue: 6
Pages: 564-7
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Protein Coding Gene
MGI:3689889 | Fancf
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI:2384790 | Fanci
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI:2448558 | Fancb
Type: protein_coding_gene
Organism: mouse, laboratory
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Publication
24005041 | J:211173
First Author: Luebben SW
Year: 2013
Journal: Nucleic Acids Res
Title: Helq acts in parallel to Fancc to suppress replication-associated genome instability.
Volume: 41
Issue: 22
Pages: 10283-97
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Publication
21229326 | J:178431
First Author: Zhang Y
Year: 2011
Journal: Mol Cells
Title: UBE2W interacts with FANCL and regulates the monoubiquitination of Fanconi anemia protein FANCD2.
Volume: 31
Issue: 2
Pages: 113-22
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Publication
24794496 | J:214661
First Author: Lachaud C
Year: 2014
Journal: J Cell Sci
Title: Distinct functional roles for the two SLX4 ubiquitin-binding UBZ domains mutated in Fanconi anemia.
Volume: 127
Issue: Pt 13
Pages: 2811-7
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Publication
32338640 | J:302065
First Author: Kreutmair S
Year: 2020
Journal: J Clin Invest
Title: Loss of the Fanconi anemia-associated protein NIPA causes bone marrow failure.
Volume: 130
Issue: 6
Pages: 2827-2844
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Publication
35284939 | J:335377
First Author: Xiong M
Year: 2022
Journal: Biol Reprod
Title: UHRF1 is indispensable for meiotic sex chromosome inactivation and interacts with the DNA damage response pathway in mice†.
Volume: 107
Issue: 1
Pages: 168-182
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Publication
26883629 | J:246110
First Author: Yang Y
Year: 2016
Journal: Nucleic Acids Res
Title: Rad18 confers hematopoietic progenitor cell DNA damage tolerance independently of the Fanconi Anemia pathway in vivo.
Volume: 44
Issue: 9
Pages: 4174-88
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Publication
19561169 | J:151714
First Author: Bakker ST
Year: 2009
Journal: Hum Mol Genet
Title: Fancm-deficient mice reveal unique features of Fanconi anemia complementation group M.
Volume: 18
Issue: 18
Pages: 3484-95
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Publication
11719385 | J:72945
First Author: Yang Y
Year: 2001
Journal: Blood
Title: Targeted disruption of the murine Fanconi anemia gene, Fancg/Xrcc9.
Volume: 98
Issue: 12
Pages: 3435-40
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Publication
15650050 | J:96119
First Author: Nakanishi K
Year: 2005
Journal: Proc Natl Acad Sci U S A
Title: Human Fanconi anemia monoubiquitination pathway promotes homologous DNA repair.
Volume: 102
Issue: 4
Pages: 1110-5
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Publication
19805513 | J:154992
First Author: Bhagwat N
Year: 2009
Journal: Mol Cell Biol
Title: XPF-ERCC1 participates in the Fanconi anemia pathway of cross-link repair.
Volume: 29
Issue: 24
Pages: 6427-37
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Publication
21865299 | J:176887
First Author: Williams SA
Year: 2011
Journal: Hum Mol Genet
Title: Functional and physical interaction between the mismatch repair and FA-BRCA pathways.
Volume: 20
Issue: 22
Pages: 4395-410
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Publication
31535215 | J:285278
First Author: Yang X
Year: 2019
Journal: Hum Genet
Title: Rare variants in FANCA induce premature ovarian insufficiency.
Volume: 138
Issue: 11-12
Pages: 1227-1236
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Publication
16357213 | -
First Author: Kennedy RD
Year: 2005
Journal: Genes Dev
Title: The Fanconi Anemia/BRCA pathway: new faces in the crowd.
Volume: 19
Issue: 24
Pages: 2925-40
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Protein Coding Gene
MGI:95480 | Fancc
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI:1914763 | Faap20
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI:1341823 | Fanca
Type: protein_coding_gene
Organism: mouse, laboratory
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Publication
22036606 | J:330492
First Author: van de Vrugt HJ
Year: 2011
Journal: DNA Repair (Amst)
Title: Evidence for complete epistasis of null mutations in murine Fanconi anemia genes Fanca and Fancg.
Volume: 10
Issue: 12
Pages: 1252-61
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Publication
27486799 | J:251511
First Author: Fu C
Year: 2016
Journal: PLoS One
Title: Dearth and Delayed Maturation of Testicular Germ Cells in Fanconi Anemia E Mutant Male Mice.
Volume: 11
Issue: 8
Pages: e0159800
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Protein
Q8BHL6
Organism: Mus musculus/domesticus
Length: 221  
Fragment?: false
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Protein
Q9EQR6
Organism: Mus musculus/domesticus
Length: 623  
Fragment?: false
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Protein
B9EJ17
Organism: Mus musculus/domesticus
Length: 623  
Fragment?: false
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Protein
A4QPC9
Organism: Mus musculus/domesticus
Length: 616  
Fragment?: false
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Protein
E9Q5Z5
Organism: Mus musculus/domesticus
Length: 343  
Fragment?: false
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Publication
17768402 | -
First Author: Wang W
Year: 2007
Journal: Nat Rev Genet
Title: Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins.
Volume: 8
Issue: 10
Pages: 735-48
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Publication
16418574 | -
First Author: Wang Z
Year: 2006
Journal: Cancer Biol Ther
Title: Promoter hypermethylation of FANCF plays an important role in the occurrence of ovarian cancer through disrupting Fanconi anemia-BRCA pathway.
Volume: 5
Issue: 3
Pages: 256-60
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Protein
Q9CR14
Organism: Mus musculus/domesticus
Length: 375  
Fragment?: false
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Protein Coding Gene
MGI:1914280 | Fancl
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI:894324 | Cenpx
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI:2442306 | Fancm
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI:1926471 | Fancg
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI:1917178 | Cenps
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein
F6Q7G3
Organism: Mus musculus/domesticus
Length: 145  
Fragment?: true
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Publication
10603300 | -
First Author: Chung CH
Year: 1999
Journal: Biochem Biophys Res Commun
Title: Deubiquitinating enzymes: their diversity and emerging roles.
Volume: 266
Issue: 3
Pages: 633-40
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Protein
Q8BJQ2
Organism: Mus musculus/domesticus
Length: 784  
Fragment?: false
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Publication
- | J:204812
     
First Author: International Mouse Strain Resource
Year: 2014
Journal: Database Download
Title: MGI download of germline transmission data for alleles from IMSR strain data
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Publication
- | J:155845
     
First Author: Wellcome Trust Sanger Institute
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Wellcome Trust Sanger Institute
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Publication
21677750 | J:173534
First Author: Skarnes WC
Year: 2011
Journal: Nature
Title: A conditional knockout resource for the genome-wide study of mouse gene function.
Volume: 474
Issue: 7351
Pages: 337-42
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Publication
- | J:73796
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Function or Process or Component Unknown following Literature Review
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Publication
- | J:148605
     
First Author: Wellcome Trust Sanger Institute
Year: 2009
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by the Wellcome Trust Sanger Institute
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Publication
- | J:23000
       
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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Publication
15489334 | -
First Author: Gerhard DS
Year: 2004
Journal: Genome Res
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Volume: 14
Issue: 10B
Pages: 2121-7
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Publication
11517925 | -
First Author: Barrett AJ
Year: 2001
Journal: Biol Chem
Title: Evolutionary lines of cysteine peptidases.
Volume: 382
Issue: 5
Pages: 727-33
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Publication
19468303 | -
First Author: Church DM
Year: 2009
Journal: PLoS Biol
Title: Lineage-specific biology revealed by a finished genome assembly of the mouse.
Volume: 7
Issue: 5
Pages: e1000112
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MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

Copyright © 2017 by The Jackson Laboratory. All Rights Reserved

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Cambridge CB2 3EH, United Kingdom