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FANCL (Fanconi anemia, complementation group L)

Identity

Other namesFAAP43
PHF9
POG
HGNC (Hugo) FANCL
LocusID (NCBI) 55120
Location 2p16.1
Location_base_pair Starts at 58386378 and ends at 58468515 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)FANCL   20748
Entrez_Gene (NCBI)FANCL  55120  Fanconi anemia, complementation group L
Cards
GeneCards (Weizmann)FANCL
Ensembl (Hinxton)ENSG00000115392 [Gene_View]  chr2:58386378-58468515 [Contig_View]  FANCL [Vega]
AceView (NCBI)FANCL
Genatlas (Paris)FANCL
SOURCE (Stanford)NM_001114636 NM_018062
Genomic and cartography
GoldenPath (UCSC)FANCL  -  2p16.1   chr2:58386378-58468515 -  2p16.1   [Description]    (hg19-Feb_2009)
EnsemblFANCL - 2p16.1 [CytoView]
Mapping of homologs : NCBIFANCL [Mapview]
OMIM608111   614083   
Gene and transcription
Genbank (Entrez)AK001197 AK225147 AK297736 AK309671 AL036481
RefSeq transcript (SRS)NM_001114636 NM_018062
RefSeq transcript (Entrez)NM_001114636 NM_018062
RefSeq genomic (SRS)AC_000134 NC_000002 NC_018913 NG_007418 NT_022184 NW_001838769 NW_004929300
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NG_007418 NT_022184 NW_001838769 NW_004929300
Consensus coding sequences : CCDS (NCBI)FANCL
Cluster EST : UnigeneHs.631890 [ SRS ] Hs.631890 [ NCBI ]
CGAP (NCI)Hs.631890
Alternative Splicing : Fast-db (Paris)GSHG0017638
Alternative Splicing GalleryENSG00000115392
Gene ExpressionFANCL [ NCBI-GEO ]   FANCL [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NW38 (SRS) Q9NW38 (Uniprot)
NextProtQ9NW38  [Medical]
With graphics : InterProQ9NW38
Splice isoforms : SwissVarQ9NW38(Swissvar)
Domaine pattern : Prosite (SRS)ZF_RING_1 (PS00518)    ZF_RING_2 (PS50089)   
Domaine pattern : Prosite (Expaxy)ZF_RING_1 (PS00518)    ZF_RING_2 (PS50089)   
Domains : Interpro (SRS)Fancl    FancL_WD-rpt_cont_dom    Znf_RING    Znf_RING/FYVE/PHD   
Domains : Interpro (EBI)Fancl    FancL_WD-rpt_cont_dom    Znf_RING    Znf_RING/FYVE/PHD   
Related proteins : CluSTrQ9NW38
Domain families : Pfam (SRS)WD-3 (PF09765)   
Domain families : Pfam (Sanger)WD-3 (PF09765)   
Domain families : Pfam (NCBI)pfam09765   
Domain families : Smart (EMBL)RING (SM00184)  
DMDM55120
Blocks (Seattle)Q9NW38
PDB (SRS)3ZQS   
PDB (PDBSum)3ZQS   
PDB (IMB)3ZQS   
PDB (RSDB)3ZQS   
Human Protein AtlasENSG00000115392
HPRD06997
IPIIPI00018099   IPI00885015   IPI00894167   IPI00894304   IPI00894380   IPI00894516   IPI00892593   IPI00892731   
Protein Interaction databases
DIP (DOE-UCLA)Q9NW38
IntAct (EBI)Q9NW38
FunCoupENSG00000115392
REACTOMEFANCL
Protein Interaction Database55120
BioGRIDFANCL
InParanoidQ9NW38
Interologous Interaction database Q9NW38
IntegromeDBFANCL
Gene fusion - rearrangments
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)FANCL
SNP (GeneSNP Utah)FANCL
SNP : HGBaseFANCL
Genetic variants : HAPMAPFANCL
Somatic Mutations in Cancer : COSMICFANCL 
CONAN: Copy Number AnalysisFANCL 
Mutations and Diseases : HGMDFANCL
OMIM608111    614083   
GENETests608111    614083   
Disease Genetic AssociationFANCL
Huge Navigator FANCL [HugePedia]  FANCL [HugeCancerGEM]
Genomic VariantsFANCL  FANCL [DGVbeta]
ClinVarFANCL
snp3D : Map Gene to Disease55120
General knowledge
Homologs : HomoloGeneFANCL
Homology/Alignments : Family Browser (UCSC)FANCL
Phylogenetic Trees/Animal Genes : TreeFamFANCL
Catalytic activity : Enzyme6.3.2.- [ Enzyme-Expasy ]   6.3.2.- [ Enzyme-SRS ]   6.3.2.- [ IntEnz-EBI ]   6.3.2.- [ BRENDA ]   6.3.2.- [ KEGG ]   
Chemical/Protein Interactions : CTD55120
Chemical/Pharm GKB GenePA134887656
Clinical trialFANCL
Cancer Resource (Charite)ENSG00000115392
Ontology : AmiGOubiquitin-protein ligase activity  ubiquitin-protein ligase activity  ubiquitin-protein ligase activity  nuclear envelope  nucleoplasm  cytoplasm  DNA repair  DNA repair  protein monoubiquitination  cellular response to DNA damage stimulus  gamete generation  zinc ion binding  ubiquitin protein ligase binding  regulation of cell proliferation  Fanconi anaemia nuclear complex  
Ontology : EGO-EBIubiquitin-protein ligase activity  ubiquitin-protein ligase activity  ubiquitin-protein ligase activity  nuclear envelope  nucleoplasm  cytoplasm  DNA repair  DNA repair  protein monoubiquitination  cellular response to DNA damage stimulus  gamete generation  zinc ion binding  ubiquitin protein ligase binding  regulation of cell proliferation  Fanconi anaemia nuclear complex  
Pathways : KEGGTryptophan metabolism
Other databases
Probes
Litterature
PubMed50 Pubmed reference(s) in Entrez
PubGeneFANCL
iHOPFANCL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Dec 3 19:47:12 CET 2013
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