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Search results 101 to 200 out of 204 for Fancl

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Type Details Score
GXD Expression
GXD Expression
 
Probe: MGI:674116
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4824775
Age: embryonic day 14.5
Image: euxassay_006857_04
Specimen Label: euxassay_006857_04
Detected: true
Specimen Num: 3
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GXD Expression
GXD Expression
 
Probe: MGI:674116
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4824775
Age: embryonic day 14.5
Image: euxassay_006857_05
Specimen Label: euxassay_006857_05
Detected: true
Specimen Num: 4
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•
GXD Expression
GXD Expression
 
Probe: MGI:674116
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4824775
Age: embryonic day 14.5
Image: euxassay_006857_06
Specimen Label: euxassay_006857_06
Detected: true
Specimen Num: 5
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•
GXD Expression
GXD Expression
 
Probe: MGI:674116
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4824775
Age: embryonic day 14.5
Image: euxassay_006857_07
Specimen Label: euxassay_006857_07
Detected: true
Specimen Num: 6
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•
GXD Expression
GXD Expression
 
Probe: MGI:674116
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4824775
Age: embryonic day 14.5
Image: euxassay_006857_08
Specimen Label: euxassay_006857_08
Detected: true
Specimen Num: 7
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•
GXD Expression
GXD Expression
 
Probe: MGI:674116
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4824775
Age: embryonic day 14.5
Image: euxassay_006857_09
Specimen Label: euxassay_006857_09
Detected: true
Specimen Num: 8
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•
GXD Expression
GXD Expression
 
Probe: MGI:674116
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4824775
Age: embryonic day 14.5
Image: euxassay_006857_10
Specimen Label: euxassay_006857_10
Detected: true
Specimen Num: 9
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•
GXD Expression
GXD Expression
 
Probe: MGI:674116
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4824775
Age: embryonic day 14.5
Image: euxassay_006857_11
Specimen Label: euxassay_006857_11
Detected: true
Specimen Num: 10
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•
GXD Expression
GXD Expression
 
Probe: MGI:674116
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4824775
Age: embryonic day 14.5
Image: euxassay_006857_12
Specimen Label: euxassay_006857_12
Detected: true
Specimen Num: 11
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•
GXD Expression
GXD Expression
 
Probe: MGI:674116
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4824775
Age: embryonic day 14.5
Image: euxassay_006857_13
Specimen Label: euxassay_006857_13
Detected: true
Specimen Num: 12
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•
GXD Expression
GXD Expression
 
Probe: MGI:674116
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4824775
Age: embryonic day 14.5
Image: euxassay_006857_14
Specimen Label: euxassay_006857_14
Detected: true
Specimen Num: 13
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•
GXD Expression
GXD Expression
 
Probe: MGI:674116
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4824775
Age: embryonic day 14.5
Image: euxassay_006857_15
Specimen Label: euxassay_006857_15
Detected: true
Specimen Num: 14
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•
GXD Expression
GXD Expression
 
Probe: MGI:674116
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4824775
Age: embryonic day 14.5
Image: euxassay_006857_16
Specimen Label: euxassay_006857_16
Detected: true
Specimen Num: 15
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•
GXD Expression
GXD Expression
 
Probe: MGI:674116
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4824775
Age: embryonic day 14.5
Image: euxassay_006857_17
Specimen Label: euxassay_006857_17
Detected: true
Specimen Num: 16
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•
GXD Expression
GXD Expression
 
Probe: MGI:674116
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4824775
Age: embryonic day 14.5
Image: euxassay_006857_18
Specimen Label: euxassay_006857_18
Detected: true
Specimen Num: 17
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•
GXD Expression
GXD Expression
 
Probe: MGI:674116
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4824775
Age: embryonic day 14.5
Image: euxassay_006857_19
Specimen Label: euxassay_006857_19
Detected: true
Specimen Num: 18
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•
GXD Expression
GXD Expression
 
Probe: MGI:674116
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4824775
Age: embryonic day 14.5
Image: euxassay_006857_20
Specimen Label: euxassay_006857_20
Detected: true
Specimen Num: 19
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•
•
GXD Expression
GXD Expression
 
Probe: MGI:674116
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1778223
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4824775
Age: embryonic day 14.5
Image: euxassay_006857_09
Specimen Label: euxassay_006857_09
Detected: true
Specimen Num: 8
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•
GXD Expression
GXD Expression
 
Probe: MGI:674116
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1778223
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4824775
Age: embryonic day 14.5
Image: euxassay_006857_10
Specimen Label: euxassay_006857_10
Detected: true
Specimen Num: 9
•
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•
GXD Expression
GXD Expression
 
Probe: MGI:674116
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1778223
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4824775
Age: embryonic day 14.5
Image: euxassay_006857_11
Specimen Label: euxassay_006857_11
Detected: true
Specimen Num: 10
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:674116
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1778223
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4824775
Age: embryonic day 14.5
Image: euxassay_006857_15
Specimen Label: euxassay_006857_15
Detected: true
Specimen Num: 14
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Publication
24389026 | -
First Author: Hodson C
Year: 2014
Journal: Structure
Title: Structure of the human FANCL RING-Ube2T complex reveals determinants of cognate E3-E2 selection.
Volume: 22
Issue: 2
Pages: 337-44
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Publication
1525668 | J:2125
First Author: LeVine SM
Year: 1992
Journal: Brain Res
Title: Morphological features of degenerating oligodendrocytes in twitcher mice.
Volume: 587
Issue: 2
Pages: 348-52
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Publication
15970507 | J:103183
 
First Author: Naz RK
Year: 2005
Journal: Front Biosci
Title: Gene knockouts that cause female infertility: search for novel contraceptive targets.
Volume: 10
Pages: 2447-59
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Protein
Q9CR14-2
Organism: Mus musculus/domesticus
Length: 370  
Fragment?: false
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Publication
9988212 | J:52978
First Author: Wylie C
Year: 1999
Journal: Cell
Title: Germ cells.
Volume: 96
Issue: 2
Pages: 165-74
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Publication
16822657 | J:111998
First Author: Reinholdt LG
Year: 2006
Journal: Mech Dev
Title: The mouse gcd2 mutation causes primordial germ cell depletion.
Volume: 123
Issue: 7
Pages: 559-69
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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
23055939 | J:193641
First Author: Nakano Y
Year: 2012
Journal: PLoS Genet
Title: A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse.
Volume: 8
Issue: 10
Pages: e1002966
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Publication
16141072 | J:99680
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
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Publication
19521500 | J:149737
First Author: Sansom SN
Year: 2009
Journal: PLoS Genet
Title: The level of the transcription factor Pax6 is essential for controlling the balance between neural stem cell self-renewal and neurogenesis.
Volume: 5
Issue: 6
Pages: e1000511
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Publication
16919269 | J:112701
First Author: Bailey PJ
Year: 2006
Journal: Exp Cell Res
Title: A global genomic transcriptional code associated with CNS-expressed genes.
Volume: 312
Issue: 16
Pages: 3108-19
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Publication
21731673 | J:174767
First Author: Tang F
Year: 2011
Journal: PLoS One
Title: Deterministic and stochastic allele specific gene expression in single mouse blastomeres.
Volume: 6
Issue: 6
Pages: e21208
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Publication
27626380 | J:236599
First Author: Dickinson ME
Year: 2016
Journal: Nature
Title: High-throughput discovery of novel developmental phenotypes.
Volume: 537
Issue: 7621
Pages: 508-514
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Publication
- | J:73065
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
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Publication
12520002 | J:91812
First Author: Stryke D
Year: 2003
Journal: Nucleic Acids Res
Title: BayGenomics: a resource of insertional mutations in mouse embryonic stem cells.
Volume: 31
Issue: 1
Pages: 278-81
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Publication
- | J:204739
     
First Author: International Knockout Mouse Consortium
Year: 2014
Journal: Database Download
Title: MGI download of modified allele data from IKMC and creation of new knockout alleles
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Publication
- | J:72247
       
First Author: DDB, FB, MGI, GOA, ZFIN curators
Year: 2001
Title: Gene Ontology annotation through association of InterPro records with GO terms
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Publication
- | J:157065
     
First Author: Helmholtz Zentrum Muenchen GmbH
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Helmholtz Zentrum Muenchen GmbH (Hmgu)
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Publication
- | J:211773
     
First Author: Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC)
Year: 2014
Journal: Database Release
Title: Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database
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Publication
- | J:342605
       
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
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Publication
- | J:342604
       
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
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Publication
- | J:85000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
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Publication
11217851 | J:65060
First Author: Kawai J
Year: 2001
Journal: Nature
Title: Functional annotation of a full-length mouse cDNA collection.
Volume: 409
Issue: 6821
Pages: 685-90
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Publication
14610273 | J:86696
First Author: Zambrowicz BP
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Volume: 100
Issue: 24
Pages: 14109-14
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Publication
38355793 | J:345621
First Author: Adams DJ
Year: 2024
Journal: Nature
Title: Genetic determinants of micronucleus formation in vivo.
Volume: 627
Issue: 8002
Pages: 130-136
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Publication
- | J:23000
       
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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Publication
- | J:141210
     
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
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Publication
- | J:60000
       
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping
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Publication
- | J:342587
       
First Author: AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators
Year: 2011
Title: Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
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Publication
- | J:68900
     
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
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Publication
12466851 | J:80000
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
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Publication
- | J:164563
       
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
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Publication
21267068 | J:153498
First Author: Diez-Roux G
Year: 2011
Journal: PLoS Biol
Title: A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Volume: 9
Issue: 1
Pages: e1000582
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Publication
- | J:157972
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
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Publication
- | J:75000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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Publication
- | J:161428
       
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
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Publication
- | J:63103
     
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
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Publication
- | J:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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Publication
- | J:53168
     
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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Publication
- | J:91388
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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Publication
- | J:155721
     
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
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Publication
- | J:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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Publication
- | J:90438
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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Publication
- | J:144086
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
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Publication
- | J:144087
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
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Publication
- | J:262123
     
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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UniProt Feature
UniProt Feature
Begin: 1
Description: E3 ubiquitin-protein ligase FANCL
Type: chain
End: 375
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DO Term
DOID:0111082 | Fanconi anemia complementation group L
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Publication
16474167 | -
First Author: Gurtan AM
Year: 2006
Journal: J Biol Chem
Title: The WD40 repeats of FANCL are required for Fanconi anemia core complex assembly.
Volume: 281
Issue: 16
Pages: 10896-905
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Protein
D3Z6C0
Organism: Mus musculus/domesticus
Length: 123  
Fragment?: true
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Publication
33686268 | -
First Author: Wang S
Year: 2021
Journal: Nat Struct Mol Biol
Title: Structure of the FA core ubiquitin ligase closing the ID clamp on DNA.
Volume: 28
Issue: 3
Pages: 300-309
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Protein Domain
IPR026850 | FANCL_C
Type: Domain
Description: This entry represents the C-terminal domain of the FANCL, which is the E3 ubiquitin ligase subunit of the FA (Fanconi anaemia) complex [, , , ]. This entry represents the RING domain which recruits the UBE2T ubiquitin conjugating E2 enzyme as other RING E3s [, ].
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Publication
17352736 | -
First Author: Seki S
Year: 2007
Journal: Genes Cells
Title: A requirement of FancL and FancD2 monoubiquitination in DNA repair.
Volume: 12
Issue: 3
Pages: 299-310
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Publication
16860002 | -
First Author: Marek LR
Year: 2006
Journal: DNA Repair (Amst)
Title: Drosophila homologs of FANCD2 and FANCL function in DNA repair.
Volume: 5
Issue: 11
Pages: 1317-26
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Publication
21775430 | -
First Author: Hodson C
Year: 2011
Journal: J Biol Chem
Title: Structural analysis of human FANCL, the E3 ligase in the Fanconi anemia pathway.
Volume: 286
Issue: 37
Pages: 32628-37
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Interaction Experiment
Zhang Y (2011)
Description: UBE2W interacts with FANCL and regulates the monoubiquitination of fanconi anemia protein FANCD2.
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Allele
Fancl<gcd> | MGI:1861640
 
Name: Fanconi anemia, complementation group L; germ cell deficient
Allele Type: Transgenic
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Protein Domain
IPR019162 | FancL_WD-rpt_cont_dom
Type: Domain
Description: This entry represents a region of approximately 100 residues containing three WD repeats and six cysteine residues- possibly as three cysteine-bridges associated with FancL.FancL is the ubiquitin ligase protein that mediates ubiquitination of FancD2, a key step in the DNA damage pathway [, ]. FancL belongs to the multisubunit Fanconi anemia (FA) complex, which is composed of subunits: FancA, FancB, FancC, FancE, FancF, FancG, FancL/PHF9 and FancM. The WD repeats are required for interaction of FancL with other subunits of the FA complex [].In humans defects in FancL are a cause of Fanconi anemia (FA) (OMIM:227650), and the FA complex is not found in FA patients. FA is a genetically heterogeneous, autosomal recessive disorder characterised by progressive pancytopenia, a diverse assortment of congenital malformations, 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
IPR043898 | FANCL_d2
Type: Domain
Description: This entry represents the second of three UBC-like domains found in the FANCL protein, which is the catalytic E3 ubiquitin ligase subunit of the FA complex (Fanconi anaemia). Eight subunits encoded by the Fanconi anaemia gene products form a multisubunit nuclear complex which is required for mono-ubiquitination of a downstream FA protein, FANCD2 [, ].
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Protein Domain
IPR044037 | FANCL_d3
Type: Domain
Description: This entry represents the third of three UBC-like domains found in the FANCL protein, which is the catalytic E3 ubiquitin ligase subunit of the FA complex (Fanconi anaemia). Eight subunits encoded by the Fanconi anaemia gene products form a multisubunit nuclear complex which is required for mono-ubiquitination of a downstream FA protein, FANCD2 [].
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Protein Domain
IPR043003 | FANCL_d3_sf
Type: Homologous_superfamily
Description: This superfamily represents the third of three UBC-like domains found in the FANCL protein, which is the catalytic E3 ubiquitin ligase subunit of the FA complex (Fanconi anaemia). Structurally, it consists of 3 alpha helices and 4 beta strands.FancL is the ubiquitin ligase protein that mediates ubiquitination of FancD2, a key step in the DNA damage pathway [, ]. FancL belongs to the multisubunit Fanconi anemia (FA) complex, which is composed of subunits: FancA, FancB, FancC, FancE, FancF, FancG, FancL/PHF9 and FancM. The WD repeats are required for interaction of FancL with other subunits of the FA complex [].In humans defects in FancL are a cause of Fanconi anemia (FA) (OMIM:227650), and the FA complex is not found in FA patients. FA is a genetically heterogeneous, autosomal recessive disorder characterised by progressive pancytopenia, a diverse assortment of congenital malformations, 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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Strain
MGI:5763762 | B6.Cg-Fancl<gcd>/Ceb
Attribute String: congenic, mutant strain, transgenic
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Genotype
Genotype
Symbol: Fancl/Fancl
Background: involves: C57BL/6J * CBA/J
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Fancl/Fancl
Background: B6.Cg-Fancl/Ceb
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Fancl/Fancl
Background: involves: C57BL/6 * FVB
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Fancl/Fancl
Background: involves: C57BL/6J * CBA/J * FVB/N
Zygosity: hm
Has Mutant Allele: true
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Publication
24905007 | J:215324
First Author: Rajendra E
Year: 2014
Journal: Mol Cell
Title: The genetic and biochemical basis of FANCD2 monoubiquitination.
Volume: 54
Issue: 5
Pages: 858-69
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Publication
27986371 | J:253010
First Author: van Twest S
Year: 2017
Journal: Mol Cell
Title: Mechanism of Ubiquitination and Deubiquitination in the Fanconi Anemia Pathway.
Volume: 65
Issue: 2
Pages: 247-259
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Genotype
Genotype
Symbol: Fancl/Fancl
Background: involves: 129/Sv * C57BL/6 * FVB/N
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Fancl/Fancl
Background: involves: 129S7/SvEvBrd * C57BL/6J * CBA
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Fancl/Fancl
Background: involves: 129/Sv * C57BL/6
Zygosity: ht
Has Mutant Allele: true
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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
19561358 | -
First Author: Yuan F
Year: 2009
Journal: J Biol Chem
Title: FANCI protein binds to DNA and interacts with FANCD2 to recognize branched structures.
Volume: 284
Issue: 36
Pages: 24443-52
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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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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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Protein
A0A0U1RQ41
Organism: Mus musculus/domesticus
Length: 111  
Fragment?: true
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Protein
A0A0U1RQ89
Organism: Mus musculus/domesticus
Length: 78  
Fragment?: true
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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
F2Z414
Organism: Mus musculus/domesticus
Length: 300  
Fragment?: false
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