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Fancl Fanconi anemia, complementation group L [ Mus musculus (house mouse) ]

Gene ID: 67030, updated on 21-Apr-2024

Summary

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Official Symbol
Fanclprovided by MGI
Official Full Name
Fanconi anemia, complementation group Lprovided by MGI
Primary source
MGI:MGI:1914280
See related
Ensembl:ENSMUSG00000004018 AllianceGenome:MGI:1914280
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Pog; gcd; Phf9; 2010322C19Rik; B230118H11Rik
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]
Expression
Ubiquitous expression in liver E14 (RPKM 7.9), CNS E11.5 (RPKM 7.5) and 26 other tissues See more
Orthologs
human all
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Genomic context

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Location:
11 A3.3; 11 15.85 cM
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (26337084..26421883)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (26387084..26471883)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_28964 Neighboring gene predicted gene, 22868 Neighboring gene STARR-seq mESC enhancer starr_28965 Neighboring gene STARR-seq mESC enhancer starr_28966 Neighboring gene STARR-positive B cell enhancer mm9_chr11:26287122-26287423 Neighboring gene transmembrane protein 85 pseudogene Neighboring gene VISTA enhancer mm57 Neighboring gene vaccinia related kinase 2 Neighboring gene STARR-positive B cell enhancer ABC_E9820 Neighboring gene STARR-positive B cell enhancer ABC_E9821 Neighboring gene STARR-positive B cell enhancer ABC_E905 Neighboring gene STARR-seq mESC enhancer starr_28968 Neighboring gene peptidylprolyl isomerase A pseudogene 11_266.1 Neighboring gene STARR-seq mESC enhancer starr_28969 Neighboring gene VISTA enhancer mm1555 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. The germ cell deficient locus maps to mouse chromosome 11A2-3. Duncan MK, et al. Mamm Genome, 1995 Oct. PMID 8563166
  2. Germ cell deficient (gcd) mouse as a model of premature ovarian failure. Duncan M, et al. Biol Reprod, 1993 Aug. PMID 8373945
  3. Germ-cell deficient (gcd), an insertional mutation manifested as infertility in transgenic mice. Pellas TC, et al. Proc Natl Acad Sci U S A, 1991 Oct 1. PMID 1924340, Free PMC Article
  4. MSA-35: a protein identified by human autoantibodies that colocalizes with microtubules. Rattner JB, et al. Biochem Cell Biol, 1992 Oct-Nov. PMID 1297335
  5. FAVL elevation in human tumors disrupts Fanconi anemia pathway signaling and promotes genomic instability and tumor growth. Zhang J, et al. J Clin Invest, 2010 May. PMID 20407210, Free PMC Article

See all (41) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The authors report the structure of the human FANCL central domain and show that the RING domain is necessary and sufficient for E2 binding.
    Title: Structural analysis of human FANCL, the E3 ligase in the Fanconi anemia pathway.
  2. Using HeLa cells and lymphoblasts from Fanconi anemia patients, the authors characterize PHF9 (FANCL) as a ubiquitin ligase and show it is essential for FANCD2 monoubiquitination. The authors state that PHF9 is the human homolog of mouse Pog (Fancl).
    Title: MSA-35: a protein identified by human autoantibodies that colocalizes with microtubules.
  3. FANCL increases the activity and expression of beta-catenin, a key pluripotency factor in hematopoietic stem cells.
    Title: FANCL ubiquitinates β-catenin and enhances its nuclear function.
  4. UBE2W regulates FANCD2 monoubiquitination by mechanisms different from UBE2T and HRR6.
    Title: UBE2W interacts with FANCL and regulates the monoubiquitination of Fanconi anemia protein FANCD2.
  5. Fancl is associated with acute lung injury
    Title: Haplotype association mapping of acute lung injury in mice implicates activin a receptor, type 1.
  6. expression of a novel splice variant of FA complementation group L (FANCL), named FAVL, can impair the FA pathway in non-FA tumor cells and act as a tumor promoting factor
    Title: FAVL elevation in human tumors disrupts Fanconi anemia pathway signaling and promotes genomic instability and tumor growth.
  7. GGN1 and GGN3, interacted with POG, regulated the localization of POG, and played a role in spermatogenesis.
    Title: Mouse GGN1 and GGN3, two germ cell-specific proteins from the single gene Ggn, interact with mouse POG and play a role in spermatogenesis.
  8. unlike in POG-deficient females, the germ cells in POG-deficient males eventually populate the seminiferous tubules at 9 wk, and fertility can be achieved by 12 wk.
    Title: Late onset of spermatogenesis and gain of fertility in POG-deficient mice indicate that POG is not necessary for the proliferation of spermatogonia.
  9. Germ cell depletion 2 (gcd2) is a chemically induced recessive mutation that causes infertility in male and female mice.
    Title: The mouse gcd2 mutation causes primordial germ cell depletion.
  10. Deletion of Pog causes germ cell deficiency, but is also accompanied by reduced embryonic body weight and sometimes lethality.
    Title: A novel gene, Pog, is necessary for primordial germ cell proliferation in the mouse and underlies the germ cell deficient mutation, gcd.
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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ubiquitin protein ligase activity ISO
Inferred from Sequence Orthology
more info
  
enables ubiquitin protein ligase binding ISO
Inferred from Sequence Orthology
more info
  
enables ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ubiquitin-protein transferase activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in DNA damage response ISO
Inferred from Sequence Orthology
more info
  
involved_in DNA repair IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in DNA repair ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within gamete generation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in interstrand cross-link repair IEA
Inferred from Electronic Annotation
more info
  
involved_in protein monoubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein monoubiquitination ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of Fanconi anaemia nuclear complex ISO
Inferred from Sequence Orthology
more info
  
part_of chromatin ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
  
located_in nuclear body ISO
Inferred from Sequence Orthology
more info
  
located_in nuclear envelope IPI
Inferred from Physical Interaction
more info
 PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
E3 ubiquitin-protein ligase FANCL
Names
PHD finger protein 9
RING-type E3 ubiquitin transferase FANCL
fanconi anemia group L protein homolog
germ cell deficient
proliferation of germ cells protein
NP_001264202.1
NP_080199.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001277273.1 → NP_001264202.1  E3 ubiquitin-protein ligase FANCL isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame acceptor splice site in the coding region compared to variant 1. It encodes isoform 2 which is shorter compared to isoform 1.
    Source sequence(s)
    AA476004, AF513619, AI854815, AK011903, AW554273
    Consensus CDS
    CCDS70152.1
    UniProtKB/Swiss-Prot
    Q9CR14
    Related
    ENSMUSP00000105135.2, ENSMUST00000109509.8
    Conserved Domains (2) summary
    pfam09765
    Location:15 → 290
    WD-3; WD-repeat region
    pfam11793
    Location:298 → 366
    FANCL_C; FANCL C-terminal domain

  2. NM_025923.3 → NP_080199.1  E3 ubiquitin-protein ligase FANCL isoform 1

    See identical proteins and their annotated locations for NP_080199.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF513619, AI854815
    Consensus CDS
    CCDS24485.1
    UniProtKB/Swiss-Prot
    Q3TGY2, Q9CR14, Q9D017
    Related
    ENSMUSP00000004120.3, ENSMUST00000004120.9
    Conserved Domains (2) summary
    pfam09765
    Location:15 → 295
    WD-3; WD-repeat region
    pfam11793
    Location:303 → 371
    FANCL_C; FANCL C-terminal domain

RNA

  1. NR_102382.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF513619, AI854815, AW554273, CN455644

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    26337084..26421883
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_872208.4 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9CR14.1 GenPept UniProtKB/Swiss-Prot:Q9CR14

Gene LinkOut

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