Fanca Fanconi anemia, complementation group A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fancaprovided by MGI
Official Full Name: Fanconi anemia, complementation group Aprovided by MGI
Primary source: MGI:MGI:1341823
See related: Ensembl:ENSMUSG00000032815 AllianceGenome:MGI:1341823
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: FACA
Summary: Acts upstream of or within several processes, including gonad development; regulation of CD40 signaling pathway; and regulation of regulatory T cell differentiation. Predicted to be located in chromatin and nucleoplasm. Predicted to be part of Fanconi anaemia nuclear complex. Is expressed in several structures, including brain; gut; liver; reproductive system; and spleen. Used to study Fanconi anemia complementation group A. Human ortholog(s) of this gene implicated in several diseases, including Fanconi anemia (multiple); acute myeloid leukemia; esophagus squamous cell carcinoma; ovarian disease (multiple); and skin melanoma. Orthologous to human FANCA (FA complementation group A). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in genital fat pad adult (RPKM 12.2), CNS E11.5 (RPKM 9.2) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 E1; 8 72.1 cM

Exon count:: 46

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (123993033..124045390, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (123266294..123318651, complement)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Numbers of long-term hematopoietic stem cells from bone marrow of fanca and fancc knockout mice can be greatly enhanced by their collection and processing in physioxia conditions.
Title: Numbers of long-term hematopoietic stem cells from bone marrow of fanca and fancc knockout mice can be greatly enhanced by their collection and processing in physioxia conditions.
A heterozygous hypomorphic mutation of Fanca causes impaired follicle development and subfertility in female mice.
Title: A heterozygous hypomorphic mutation of Fanca causes impaired follicle development and subfertility in female mice.
Using Fanca(-/-) HSCs expressing the separation-of-function mutant p53(515C) transgene, which selectively impairs the p53 function in apoptosis but keeps its cell-cycle checkpoint activities intact, we show that the p53 cell-cycle function is specifically required for the regulation of Fanca(-/-) HSC proliferation.
Title: Cell-Cycle-Specific Function of p53 in Fanconi Anemia Hematopoietic Stem and Progenitor Cell Proliferation.
Fanca(-/-) mice showed a skewed Vkappa gene usage.
Title: V(D)J recombination process and the Pre-B to immature B-cells transition are altered in Fanca(-/-) mice.
FANCA safeguards interphase and mitosis during hematopoiesis
Title: FANCA safeguards interphase and mitosis during hematopoiesis in vivo.
study indicates that Fanca expression during endomitosis is crucial for normal megakaryopoiesis and platelet production.
Title: Defective endomitosis during megakaryopoiesis leads to thrombocytopenia in Fanca-/- mice.
Data show that Fanconi anemia complementation group A Fanca is required for the induction of transition mutations at A/T residues during somatic hypermutation (SHM) and immunoglobulin (Ig) class switch recombination (CSR).
Title: Fanca deficiency reduces A/T transitions in somatic hypermutation and alters class switch recombination junctions in mouse B cells.
CD25(+)Foxp3(+) Tregs of Fanca(-/-) or Fancd2(-/-) mice were less efficient in suppressing the production of GVHD-associated inflammatory cytokines.
Title: Deletion of Fanca or Fancd2 dysregulates Treg in mice.
null mutations in Fanca or Fancg are fully epistatic
Title: Evidence for complete epistasis of null mutations in murine Fanconi anemia genes Fanca and Fancg.
genetic diversity in FANCA, FANCC and FANCL does not support an association of these genes with cervical cancer susceptibility in the Swedish population.
Title: Evaluation of Fanconi anaemia genes FANCA, FANCC and FANCL in cervical cancer susceptibility.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Fanca (e-PCR), detects polymorphism
- UniSTS:178185

RH126146 (e-PCR)
- UniSTS:162858

C81417 (e-PCR)
- UniSTS:159834

UniSTS:238171 (e-PCR)
- UniSTS:238171

Fanca (e-PCR), detects polymorphism
- UniSTS:238171

Zfp276 (e-PCR), detects polymorphism
- UniSTS:238173

AW208693 (e-PCR)
- UniSTS:179843

AW048709 (e-PCR)
- UniSTS:179849

RH127076 (e-PCR)
- UniSTS:167567

Fanca (e-PCR), detects polymorphism
- UniSTS:548037

SHGC-51085 (e-PCR)
- UniSTS:71917

Gene Ontology Provided by MGI

Process	Evidence Code	Pubs
acts_upstream_of_or_within female gonad development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in interstrand cross-link repair	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within male gonad development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within male meiotic nuclear division	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of CD40 signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of DNA-binding transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of germ cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of regulatory T cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of regulatory T cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of Fanconi anaemia nuclear complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Fanconi anaemia nuclear complex	ISO Inferred from Sequence Orthology more info
part_of Fanconi anaemia nuclear complex	ISS Inferred from Sequence or Structural Similarity more info
located_in chromatin	IEA Inferred from Electronic Annotation more info
located_in chromatin	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: Fanconi anemia group A protein homolog

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)

NM_016925.4 → NP_058621.2 Fanconi anemia group A protein homolog

See identical proteins and their annotated locations for NP_058621.2

Status: VALIDATED

Source sequence(s)

AC155810

Consensus CDS

CCDS22753.1

UniProtKB/Swiss-Prot

E9QKQ4, Q9ESU9, Q9ESV3, Q9ET44, Q9JL64, Q9JL65, Q9JL66, Q9JL67, Q9JL68, Q9JL69, Q9JL70

UniProtKB/TrEMBL

B2RWU3

Related

ENSMUSP00000045217.9, ENSMUST00000035495.15

Conserved Domains (2) summary

pfam03511
Location:1246 → 1308

Fanconi_A; Fanconi anaemia group A protein

pfam15865
Location:169 → 518

Fanconi_A_N; Fanconi anaemia group A protein N terminus

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

NC_000074.7 Reference GRCm39 C57BL/6J

Range

123993033..124045390 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006530661.4 → XP_006530724.1 Fanconi anemia group A protein homolog isoform X1

UniProtKB/TrEMBL

B2RWU3

Conserved Domains (2) summary

pfam03511
Location:1237 → 1299

Fanconi_A; Fanconi anaemia group A protein

pfam15865
Location:160 → 509

Fanconi_A_N; Fanconi anaemia group A protein N-terminus
XM_006530662.4 → XP_006530725.1 Fanconi anemia group A protein homolog isoform X2

UniProtKB/TrEMBL

B2RWU3

Conserved Domains (2) summary

pfam03511
Location:1214 → 1276

Fanconi_A; Fanconi anaemia group A protein

pfam15865
Location:140 → 486

Fanconi_A_N; Fanconi anaemia group A protein N-terminus
XM_036153753.1 → XP_036009646.1 Fanconi anemia group A protein homolog isoform X6

Conserved Domains (1) summary

pfam03511
Location:664 → 726

Fanconi_A; Fanconi anaemia group A protein
XM_006530663.4 → XP_006530726.1 Fanconi anemia group A protein homolog isoform X3

Conserved Domains (1) summary

pfam15865
Location:169 → 518

Fanconi_A_N; Fanconi anaemia group A protein N-terminus
XM_006530664.5 → XP_006530727.1 Fanconi anemia group A protein homolog isoform X4

UniProtKB/TrEMBL

F7CK17

Conserved Domains (1) summary

pfam15865
Location:169 → 518

Fanconi_A_N; Fanconi anaemia group A protein N-terminus
XM_006530665.2 → XP_006530728.1 Fanconi anemia group A protein homolog isoform X5

UniProtKB/TrEMBL

F7CK17

Related

ENSMUSP00000116614.2, ENSMUST00000127904.8

Conserved Domains (1) summary

pfam15865
Location:169 → 518

Fanconi_A_N; Fanconi anaemia group A protein N-terminus