InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Fancl

Summary

InnateDB Gene

IDBG-156079.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Fancl

Gene Name

Fanconi anemia, complementation group L

Synonyms

2010322C19Rik; AW554273; B230118H11Rik; gcd; Phf9; Pog

Species

Mus musculus

Ensembl Gene

ENSMUSG00000004018

Encoded Proteins

IDBP-156081

Fanconi anemia, complementation group L

IDBP-262238

Fanconi anemia, complementation group L

IDBP-533473

Fanconi anemia, complementation group L

IDBP-540537

Fanconi anemia, complementation group L

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes the complementation group L subunit of the multimeric Fanconi anemia (FA) nuclear complex composed of proteins encoded by over ten Fanconi anemia complementation (FANC) group genes. The FA complex is necessary for protection against DNA damage. This gene product, an E3 ubiquitin ligase, catalyzes and is required for the monoubiquitination of the protein encoded by the Fanconi anemia, complementation group D2 gene, a critical step in the FA pathway (PMID: 12973351, 21229326). In mouse, mutations of this E3 ubiquitin ligase gene can lead to infertility in adult males and females, and a deletion of this gene can cause embryonic lethality in some genetic backgrounds. A pseudogene of this gene has been identified on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 11:26386135-26471876

Strand

Forward strand

Band

A3.3

Transcripts

ENSMUST00000004120	ENSMUSP00000004120
ENSMUST00000109509	ENSMUSP00000105135
ENSMUST00000143471
ENSMUST00000136830	ENSMUSP00000117073
ENSMUST00000134445	ENSMUSP00000119873

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 19 interaction(s) predicted by orthology.

Experimentally validated
Total	7 [view]
Protein-Protein	7 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	19 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004842	ubiquitin-protein transferase activity
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0016874	ligase activity
GO:0031625	ubiquitin protein ligase binding

Biological Process

GO:0006281	DNA repair
GO:0006513	protein monoubiquitination
GO:0006974	cellular response to DNA damage stimulus
GO:0007276	gamete generation
GO:0042127	regulation of cell proliferation

Cellular Component

GO:0005635	nuclear envelope
GO:0005737	cytoplasm
GO:0043240	Fanconi anaemia nuclear complex

Orthologs

Species

Homo sapiens

Bos taurus

Gene ID

Gene Order

ENSG00000115392

View Gene Order

ENSBTAG00000005870

Not yet available

Pathways

NETPATH

REACTOME

REACT_233397

DNA Repair pathway

REACT_232842

Fanconi Anemia pathway pathway

KEGG

mmu04120

Ubiquitin mediated proteolysis pathway

INOH

PID NCI

Pathway Predictions based on Human Orthology Data

NETPATH

REACTOME

REACT_18410

Fanconi Anemia pathway pathway

REACT_216

DNA Repair pathway

KEGG

hsa04120

Ubiquitin mediated proteolysis pathway

INOH

PID NCI

fanconi_pathway

Fanconi anemia pathway

bard1pathway

BARD1 signaling events

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

67030

UniGene

Mm.18875 Mm.392039 Mm.402037

RefSeq

NM_001277273 NM_025923

OMIM

CCDS

CCDS24485 CCDS70152

HPRD

IMGT

MGI ID

MGI:1914280

MGI Symbol

Fancl

EMBL

GenPept

RNA Seq Atlas

67030