FANCL

Gene Information

Official Symbol: FANCL
Official Name: FA complementation group L
Aliases and Previous Symbols: N/A
Entrez ID: 55120
UniProt: Q9NW38
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez Summary: 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].
UniProt Summary: Ubiquitin ligase protein that mediates monoubiquitination of FANCD2 in the presence of UBE2T, a key step in the DNA damage pathway (PubMed:12973351, PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:24389026). Also mediates monoubiquitination of FANCI (PubMed:19589784). 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. {ECO:0000269|PubMed:12973351, ECO:0000269|PubMed:16916645, ECO:0000269|PubMed:17938197, ECO:0000269|PubMed:19111657, ECO:0000269|PubMed:19589784, ECO:0000269|PubMed:24389026}.

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Essentiality in NALM6

Essentiality Rank: 1179
Expression level (log2 read counts): 4.11

Expression Distribution

Screen	Score
Mdivi-1 15μM R05 exp217	-2.15
Diepoxybutane 3μM R07 exp354	-1.87
Campthothecin 0.001μM R06 exp270	-1.85
Tubastatin-A 2.5μM R07 exp417	-1.79

WD-3
FANCL C

Fanconi anaemia nuclear complex
interstrand cross-link repair
protein monoubiquitination
nuclear envelope
ubiquitin protein ligase activity
ubiquitin-protein transferase activity
nuclear body
ubiquitin protein ligase binding
DNA repair
intracellular membrane-bounded organelle
protein ubiquitination
gamete generation
DNA metabolic process
protein modification by small protein conjugation
cellular response to DNA damage stimulus
multicellular organismal reproductive process
sexual reproduction
multicellular organism reproduction
protein modification by small protein conjugation or removal
multi-organism reproductive process
reproductive process
reproduction
regulation of cell population proliferation
cellular response to stress