Aliases for FANCL Gene
Aliases for FANCL Gene
External Ids for FANCL Gene
- HGNC: 20748
- Entrez Gene: 55120
- Ensembl: ENSG00000115392
- OMIM: 608111
- UniProtKB: Q9NW38
Previous HGNC Symbols for FANCL Gene
- PHF9
Previous GeneCards Identifiers for FANCL Gene
- GC00U912964
- GC02M058360
- GC02M058298
Summaries for FANCL Gene
-
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, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. 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 the protein for complementation group L. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
GeneCards Summary for FANCL Gene
FANCL (Fanconi Anemia Complementation Group L) is a Protein Coding gene. Diseases associated with FANCL include Fanconi Anemia, Complementation Group L and Fanconi Anemia, Complementation Group A. Among its related pathways are Fanconi anemia pathway and DNA damage_Role of Brca1 and Brca2 in DNA repair. GO annotations related to this gene include ligase activity and ubiquitin protein ligase binding.
UniProtKB/Swiss-Prot for FANCL Gene
-
Ubiquitin ligase protein that mediates monoubiquitination of FANCD2, a key step in the DNA damage pathway. Also mediates monoubiquitination of FANCI. May stimulate the ubiquitin release from UBE2W. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FANCL Gene
Genomics for FANCL Gene
Regulatory Elements for FANCL Gene
Enhancers for FANCL Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH02G057759 | 2.2 | Ensembl ENCODE | 10.2 | +481.6 | 481620 | 1.3 | ELF3 PKNOX1 RB1 CREB3L1 SIN3A ZNF48 ZSCAN9 RAD21 ZNF121 ZNF143 | FANCL ACTG1P22 LOC105377628 |
| GH02G058107 | 1.4 | FANTOM5 Ensembl ENCODE | 9.7 | +133.1 | 133128 | 2.8 | GTF2F1 TBP PKNOX1 FOXA2 JUN SIN3A CEBPG BRCA1 POLR2A SMC3 | VRK2 FANCL GC02P058072 ENSG00000273063 |
| GH02G058041 | 1.2 | Ensembl ENCODE | 10.6 | +199.2 | 199188 | 1.7 | HNRNPUL1 FOXA2 ARID4B FEZF1 SLC30A9 GATA2 FOS JUNB ZNF491 MAFF | FANCL LOC105374726 GC02M057920 |
| GH02G058447 | 1.1 | Ensembl ENCODE | 10.7 | -206.6 | -206569 | 1.1 | ELF3 CBX3 ZSCAN4 RAD21 YY1 ZNF143 MIXL1 THAP11 ZNF263 ZNF654 | FANCL VRK2 GC02P058461 LINC01122 |
| GH02G058044 | 1.1 | ENCODE | 10.6 | +195.0 | 194959 | 4.5 | HDGF PKNOX1 MLX CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 | VRK2 FANCL LOC105374726 GC02M057920 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around FANCL on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the FANCL gene promoter:
Regulatory Element Products
Genomic Location for FANCL Gene
- Chromosome:
- 2
- Start:
- 58,159,243 bp from pter
- End:
- 58,241,681 bp from pter
- Size:
- 82,439 bases
- Orientation:
- Minus strand
Genomic View for FANCL Gene
Genes around FANCL on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p16.1 by Ensembl
- 2p16.1 by Entrez Gene
- 2p16.1 by HGNC
FANCL Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FANCL Gene
Proteins for FANCL Gene
-
Protein details for FANCL Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NW38-FANCL_HUMAN
- Recommended name:
- E3 ubiquitin-protein ligase FANCL
- Protein Accession:
- Q9NW38
- Q6GU60
Protein attributes for FANCL Gene
- Size:
- 375 amino acids
- Molecular mass:
- 42905 Da
- Quaternary structure:
-
- Interacts with GGN (By similarity). Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients. In complex with FANCF, FANCA and FANCG, but not with FANCC, nor FANCE, interacts with HES1; this interaction may be essential for the stability and nuclear localization of FA core complex proteins. Interacts with FANCI. Interacts (via the RING-type zinc finger) with UBE2T and UBE2W.
Protein Expression for FANCL Gene
Post-translational modifications for FANCL Gene
- The RING-type zinc finger domain is monoubiquitinated in the presence of UBE2T and UBE2W.
- Ubiquitination at isoforms=249 and Lys369
- Modification sites at PhosphoSitePlus
Other Protein References for FANCL Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for FANCL
- Invitrogen Antibodies for FANCL
- antibodies-online Antibodies for FANCL: See all 57
- GeneTex FANCL antibody for FANCL
-
Santa Cruz Biotechnology (SCBT) Antibodies for FANCL
Protein Products
-
OriGene Purified Proteins for FANCL
- Search Origene for MassSpec and Protein Over-expression Lysates for FANCL
- Origene Custom Protein Services for FANCL
- antibodies-online Proteins for FANCL: See all 4
- Search antibodies-online for peptides
- Search GeneTex for Proteins for FANCL
Assay Products
- antibodies-online Kits for FANCL: See all 2
No data available for DME Specific Peptides for FANCL Gene
Domains & Families for FANCL Gene
Gene Families for FANCL Gene
Protein Domains for FANCL Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for FANCL Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9NW38UniProtKB/Swiss-Prot:
FANCL_HUMAN :- The UBC-RWD region (URD) region mediates interaction with FANCI and FANCD2.
- Domain:
-
- The UBC-RWD region (URD) region mediates interaction with FANCI and FANCD2.
Function for FANCL Gene
Molecular function for FANCL Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
- UniProtKB/Swiss-Prot Function:
- Ubiquitin ligase protein that mediates monoubiquitination of FANCD2, a key step in the DNA damage pathway. Also mediates monoubiquitination of FANCI. May stimulate the ubiquitin release from UBE2W. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth.
Enzyme Numbers (IUBMB) for FANCL Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004842 | ubiquitin-protein transferase activity | ISS | -- |
| GO:0005515 | protein binding | IPI | 25416956 |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0031625 | ubiquitin protein ligase binding | IPI | 16916645 |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for FANCL Gene
- MGI mutant phenotypes for FANCL:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for FANCL:
-
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased cell death HMECs cells
- Increased viability with MLN4924 (a NAE inhibitor)
- Decreased viability after sindbis virus (SIN) dsTE12Q infection
- Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation
- Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization
Animal Model Products
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ViGene Biosciences lentiviral particle packaged cDNA for FANCL gene
-
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CRISPR Products
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-
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miRNA for FANCL Gene
- miRTarBase miRNAs that target FANCL
miRNA Products
- Search ViGene Biosciences for FANCL
Inhibitory RNA Products
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Cell Line Products
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Horizon Cell Lines for FANCL
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Flow Cytometry Products
No data available for Transcription Factor Targets and HOMER Transcription for FANCL Gene
Localization for FANCL Gene
Subcellular locations from UniProtKB/Swiss-Prot for FANCL Gene
- Cytoplasm. Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytoskeleton | 2 |
| cytosol | 2 |
| golgi apparatus | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005635 | nuclear envelope | IEA | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0016604 | nuclear body | IDA | -- |
Pathways & Interactions for FANCL Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Fanconi anemia pathway | ||
| 2 | BRCA1 Pathway | ||
| 3 | Ubiquitin mediated proteolysis | ||
| 4 | DNA Double-Strand Break Repair |
.53
|
|
| 5 | DNA damage_ATM/ATR regulation of G1/S checkpoint | ||
Pathways by source for FANCL Gene
1 BioSystems pathway for FANCL Gene
2 Reactome pathways for FANCL Gene
2 KEGG pathways for FANCL Gene
2 GeneGo (Thomson Reuters) pathways for FANCL Gene
2 Qiagen pathways for FANCL Gene
UniProtKB/Swiss-Prot Q9NW38-FANCL_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for FANCL Gene
Selected Interacting proteins:
Q9NW38-FANCL_HUMAN
ENSP00000385021
for FANCL Gene via
IID
STRING
UniProtKB
MINT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006281 | DNA repair | IEA,IMP | 16916645 |
| GO:0006513 | protein monoubiquitination | IDA | 16916645 |
| GO:0006974 | cellular response to DNA damage stimulus | IMP | 16916645 |
| GO:0007276 | gamete generation | IEA | -- |
| GO:0016567 | protein ubiquitination | IEA | -- |
No data available for SIGNOR curated interactions for FANCL Gene
Drugs & Compounds for FANCL Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 |
|
Transcripts for FANCL Gene
mRNA/cDNA for FANCL Gene
- (13) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (129) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for FANCL Gene
CRISPR Products
-
OriGene CRISPR knockouts for FANCL
-
Santa Cruz Biotechnology (SCBT) CRISPR for FANCL
- GenScript: Design CRISPR guide RNA sequences for FANCL
miRNA Products
- Search ViGene Biosciences for FANCL
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for FANCL
- Browse OriGene Inhibitory RNA Products For FANCL
-
ViGene Biosciences ready-to-package AAV shRNAs for FANCL gene
Clone Products
- Sino Biological Human cDNA Clone for FANCL
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
Expression for FANCL Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Plasma (55.3) and Bone marrow stromal cell (13.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FANCL Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of FANCL Gene:
FANCLSOURCE GeneReport for Unigene cluster for FANCL Gene:
Hs.631890Evidence on tissue expression from TISSUES for FANCL Gene
- Nervous system(4.7)
- Eye(4)
- Bone(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for FANCL Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Organs:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- neck
- nose
- outer ear
- pituitary gland
- skull
Thorax:
- breast
- esophagus
- heart
- lung
- rib
- rib cage
Abdomen:
- intestine
- kidney
- large intestine
- liver
- stomach
Pelvis:
- anus
- ovary
- pelvis
- penis
- prostate
- rectum
- testicle
- ureter
- uterus
- vagina
- vulva
Limb:
- arm
- digit
- finger
- forearm
- hand
- radius
- upper limb
General:
- blood
- blood vessel
- bone marrow
- coagulation system
- hair
- peripheral nervous system
- red blood cell
- skin
- spinal column
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for FANCL
-
OriGene qPCR primer pairs and template standards for FANCL
No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for FANCL Gene
Orthologs for FANCL Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FANCL 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | FANCL 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | FANCL 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Fancl 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FANCL 35 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Fancl 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | FANCL 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FANCL 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FANCL 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | fancl 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | fancl 34 35 |
|
||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2422 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Fancl 35 |
|
OneToOne | |
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT5G65740 34 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os03g0726900 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToOne |
- Species where no ortholog for FANCL was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for FANCL Gene
No data available for Paralogs for FANCL Gene
Variants for FANCL Gene
| SNP ID | Clin | Chr 02 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs759217526 | Pathogenic | 58,159,793(+) | TAAGG(-/TAAT)TAATT | nc-transcript-variant, reference, utr-variant-3-prime, frameshift-variant | |
| rs869320684 | Pathogenic | 58,226,733(-) | AGATG(-/C)TTTTG | intron-variant, nc-transcript-variant, reference, frameshift-variant | |
| rs869320685 | Pathogenic | 58,204,171(-) | ATGCT(-/T)CTGGT | nc-transcript-variant, reference, frameshift-variant | |
| rs878855046 | Pathogenic | 58,204,163(-) | GAAGA(-/TGCTTCTGGTAGA)GAGCA | nc-transcript-variant, reference, frameshift-variant | |
| rs140088149 | Likely benign | 58,161,579(+) | ACTTG(A/T)TCAGG | nc-transcript-variant, downstream-variant-500B, reference, missense, utr-variant-3-prime |
Residual Variation Intolerance Score:
87.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.61;
45.20% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for FANCL Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FANCL Gene
Disorders for FANCL Gene
(11) MalaCards diseases for FANCL Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| fanconi anemia, complementation group l |
|
|
| fanconi anemia, complementation group a |
|
|
| fancl-related fanconi anemia |
|
|
| esophageal atresia/tracheoesophageal fistula |
|
|
| tracheoesophageal fistula |
|
|
Search FANCL in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
FANCL_HUMAN- Fanconi anemia complementation group L (FANCL) [MIM:614083]: 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. {ECO:0000269 PubMed:12973351}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for FANCL
No data available for Genatlas for FANCL Gene
Publications for FANCL Gene
- Mechanistic insight into site-restricted monoubiquitination of FANCD2 by Ube2t, FANCL, and FANCI. (PMID: 19111657) Alpi A.F. … Patel K.J. (Mol. Cell 2008) 3 4 22 64
- UBE2T is the E2 in the Fanconi anemia pathway and undergoes negative autoregulation. (PMID: 16916645) Machida Y.J. … Dutta A. (Mol. Cell 2006) 3 4 22 64
- FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required for functional integrity of the FA-BRCA DNA repair pathway. (PMID: 22343915) Ali A.M. … Meetei A.R. (Blood 2012) 3 4 64
- Structural analysis of human FANCL, the E3 ligase in the Fanconi anemia pathway. (PMID: 21775430) Hodson C. … Walden H. (J. Biol. Chem. 2011) 3 4 64
- FANCI binds branched DNA and is monoubiquitinated by UBE2T-FANCL. (PMID: 19589784) Longerich S. … Sung P. (J. Biol. Chem. 2009) 3 4 64
Products for FANCL Gene
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- antibodies-online Antibodies for FANCL: See all 57
- antibodies-online Kits for FANCL: See all 2
- antibodies-online Proteins for FANCL: See all 4
- Search antibodies-online for peptides
- GeneTex FANCL antibody for FANCL
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- ViGene Biosciences adenoviral particle packaged cDNA for FANCL gene
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for FANCL Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
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