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Aliases & Descriptions for FANCL
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases EC 6.3.2.- 3 FAAP43 2 , 3 FLJ10335 1 , 2 PHF9 2 , 3 , 5 POG 2
Descriptions Fanconi anemia group L protein 3 Fanconi anemia, complementation group L 2 Fanconi anemia-associated polypeptide of 43 kDa 3 PHD finger protein 9 1 , 2
Search outside databases for aliases for FANCL genePrevious GC identifers: GC00U912964 GC02M058360
Summaries for FANCL (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for FANCL : The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1(also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCMand FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconianemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability,hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNArepair. The members of the Fanconi anemia complementation group do not share sequence similarity;they are related by their assembly into a common nuclear protein complex. This gene encodes theprotein for complementation group L. Alternative splicing results in two transcript variantsencoding different isoforms. [provided by RefSeq] UniProtKB/Swiss-Prot: FANCL_HUMAN, Q9NW38 Function : Ubiquitin ligase protein that mediates ubiquitination of FANCD2, a key step in the DNAdamage pathway. May be required for proper primordial germ cell proliferation in the embryonicstage, whereas it is probably not needed for spermatogonial proliferation after birth
Gene Wiki entry for FANCL
Genomic Location for FANCL
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the FANCL gene Entrez Gene cytogenetic band: 2p16.1 Ensembl cytogenetic band: 2p16.1 HGNC cytogenetic band: 2p16.1 FANCL Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure
GeneLoc location for GC02M058298:
(about GC identifiers )
Start:
58,239,882 bp from pter
End:
58,322,018 bp from pter
Size:
82,137 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000002.10 NT_022184.14 Proteins for FANCL
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: FANCL_HUMAN, Q9NW38 (See
protein sequence )Recommended Name: E3 ubiquitin-protein ligase FANCL Size : 375 amino acids; 42905 Da
Subunit : Interacts with GGN (By similarity). Belongs to the multisubunit FA complex composed ofFANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FApatients
Subcellular location : Cytoplasm. Nucleus
Caution : Although PubMed:12724401 reports that it contains a PHD-type zinc finger, it contains aRING-type zinc finger. Moreover, PHD-type zinc fingers do not have any ubiquitin ligase activity
Secondary accessions : Q6GU60
REFSEQ proteins (2 alternative transcripts):
NP_001108108.1 NP_060532.2 ENSEMBL proteins: ENSP00000233741 ENSP00000386097 ENSP00000385021 ENSP00000384046 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 2 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for FANCL: Assays for FANCL:
Protein
Domains/ Families for FANCL(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q9NW38 ProtoNet protein and cluster: Q9NW38
1 Blocks protein family : IPB001841 Zn-finger UniProtKB/Swiss-Prot: FANCL_HUMAN, Q9NW38 Similarity : Contains 1 RING-type zinc finger
Gene Function for FANCL
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001114636 Applied Biosystems Silencer ® siRNAs for FANCL Sigma-Aldrich siRNA and siRNA Panels for FANCL Sigma-Aldrich shRNA Panels and shRNA for FANCL Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001114636                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001114636                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001114636  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001114636 UniProtKB/Swiss-Prot: FANCL_HUMAN, Q9NW38 Function : Ubiquitin ligase protein that mediates ubiquitination of FANCD2, a key step in the DNAdamage pathway. May be required for proper primordial germ cell proliferation in the embryonicstage, whereas it is probably not needed for spermatogonial proliferation after birth Enzyme Number (IUBMB): EC 6.3.2.-
6 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Fancl) :4 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for FANCL
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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UniProtKB/Swiss-Prot: FANCL_HUMAN, Q9NW38 Pathway : Protein modification; protein ubiquitination
Gene Network CentralTM Interacting Genes and Proteins Network for FANCL 5/50 Interacting proteins for FANCL (Q9NW38 2 ENSP00000233741 3 ) via UniProtKB, MINT, and/or STRING (see all 50
)About this table 3 Gene Ontology (GO) biological process terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0006281 DNA repair
IEA -- GO:0006974 response to DNA damage stimulus
IEA -- GO:0019941 modification-dependent protein catabolic process
IEA --
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Drugs & Compounds for FANCL (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for FANCL
Transcripts for FANCL(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
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RNAi Products from Invitrogen ,
Millipore , and/or
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001114636 Sigma-Aldrich siRNA and siRNA Panels for FANCL Sigma-Aldrich shRNA Panels and shRNA for FANCL Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001114636 NM_018062
REFSEQ mRNAs for FANCL gene (2 alternative transcripts): NM_001114636.1 NM_018062.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001114636 NM_018062
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001114636                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001114636                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001114636  
Additional cDNA sequence: AK001197.1 AK225147.1 AK297736.1 AK309671.1 BC009042.1 BC037570.1 BC041627.1 BC054517.1 CR594145.1 CR597729.1
18 DOTS entries : DT.75182666 DT.448234 DT.92387226 DT.120965414 DT.92440954 DT.100783920 DT.70103087 DT.86852791 DT.92440947 DT.95279769 DT.100689663 DT.100783923 DT.120965399 DT.100026572 DT.100035558 DT.448235 DT.92440943 DT.92440944
24/129 AceView cDNA sequences (see all 129
):AA258135 CD105578 BC037570 CR594145 AU126989 AL043470 CA841300 AA258395 AU132311 BP373332 AK001197 AA280291 BM786985 AW572256 BU156193 BU676880 BX444601 BU621773 NM_018062 AI342480 BC054517 CB156727 CF529786 BI916786
highest scoring ESTs for FANCL :AL036481 AA232116 AK001197 AL043470 AU123628 AU126989 AU132311 AU133843 BC009042 BC037570
Unigene Cluster for FANCL: Fanconi anemia, complementation group L Hs.631890 [show with all ESTs ] Unigene Representative Sequence: BC037570 GeneLoc Exon Structure 4 Ensembl transcripts including schematic representations : ENST00000233741
ENST00000403295
ENST00000402135
ENST00000403676
Expression for FANCL
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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FANCL expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for FANCL 1 / 2 / 3
4 probe-sets matching FANCL gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.631890 Expression variation in blood from EXPOLDB for FANCL
Orthologs for FANCL
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for FANCL gene from 5/10 species (see all 10
)
About this table Species with no ortholog for FANCL ENSEMBL Gene Tree for FANCL Paralogs for FANCL (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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SNPs/Variants for FANCL (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for FANCL (up to first 250kb)
Disorders & Mutations for FANCL
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 608111 UniProtKB/Swiss-Prot: FANCL_HUMAN, Q9NW38
Defects in FANCL are a cause of Fanconi anemia (FA) [MIM:227650]. FA is a geneticallyheterogeneous, autosomal recessive disorder characterized by progressive pancytopenia, a diverseassortment of congenital malformations, and a predisposition to the development of malignancies.At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomalinstability (increased chromosome breakage), and defective DNA repair
2 Novoseek disease relationships for FANCL gene
About this table GeneTests: FANCL Fanconi Anemia Human Gene Mutation Database : FANCL Human Genome Epidemiology Navigator: FANCL (2 documents)
Medical News for FANCL (Possibly Related Articles in
Doctor's Guide )
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--
Publications for FANCL (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/34 PubMed articles for FANCL gene (see all 34
): Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621) 3, 4 Hillier L.W....Wilson R.K. (2005) A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. (PubMed id 16116422) 3, 4 Meetei A.R....Wang W. (2005) X-linked inheritance of Fanconi anemia complementation group B. (PubMed id 15502827) 3, 4 Meetei A.R....Joenje H. (2004) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 3, 4 Ota T....Sugano S. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) A novel ubiquitin ligase is deficient in Fanconi anemia. (PubMed id 12973351) 3, 4 Meetei A.R.... Wang W. (2003) A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome. (PubMed id 12724401) 3, 4 Meetei A.R.... Wang W. (2003) Hypermethylation of the FANCC and FANCL promoter regions in sporadic acute leukaemia. (PubMed id 18607065) 3 Hess C.J....Waisfisz Q. (2008) Comprehensive analysis of DNA repair gene variants and risk of meningioma. (PubMed id 18270339) 3 Bethke L....Houlston R. (2008) Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560) 3 Kimura K.... Sugano S. (2006)
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Genome Databases showing FANCL
(According to
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AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing FANCL
(According to HUGE )
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Specialized Databases showing FANCL (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
ATLAS Chromosomes in Cancer entry for FANCL Genetics and Cytogenetics in Oncology and Haematology Fanconi Anemia Mutation Database http://www.rockefeller.edu/fanconi/mutate/jumpl.html GeneReviews http://www.genetests.org/query?gene=FANCL
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-- Services for FANCL (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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