Fancc Fanconi anemia, complementation group C [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fanccprovided by MGI
Official Full Name: Fanconi anemia, complementation group Cprovided by MGI
Primary source: MGI:MGI:95480
See related: Ensembl:ENSMUSG00000021461 AllianceGenome:MGI:95480
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: Facc
Summary: Acts upstream of or within several processes, including brain morphogenesis; neuronal stem cell population maintenance; and removal of superoxide radicals. Predicted to be located in chromatin and cytosol. Predicted to be part of Fanconi anaemia nuclear complex. Is expressed in several structures, including central nervous system; embryo mesenchyme; reproductive system; retina nuclear layer; and skeleton. Used to study Fanconi anemia complementation group C. Human ortholog(s) of this gene implicated in several diseases, including Fanconi anemia (multiple); acute myeloid leukemia; aspirin-induced respiratory disease; pancreatic cancer; and pancytopenia. Orthologous to human FANCC (FA complementation group C). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in bladder adult (RPKM 3.8), CNS E11.5 (RPKM 3.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 B3; 13 32.8 cM

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (63452519..63645126, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (63301334..63497292, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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.
Zika virus depletes neural stem cells and evades selective autophagy by suppressing the Fanconi anemia protein FANCC.
Title: Zika virus depletes neural stem cells and evades selective autophagy by suppressing the Fanconi anemia protein FANCC.
FancA(-/-) and FancC(-/-) embryos have abnormal skeletal development shown by skeletal malformations, growth delay, and reduced bone mineralization.
Title: Deletion of the Fanconi Anemia C Gene in Mice Leads to Skeletal Anomalies and Defective Bone Mineralization and Microarchitecture.
TP53 haploinsufficiency completely rescues emergency granulopoiesis in FANCC(-/-) mice.
Title: TP53 Haploinsufficiency Rescues Emergency Granulopoiesis in FANCC(-/-) Mice.
Genetic deletion of Fancc blocks the autophagic clearance of viruses (virophagy) and increases susceptibility to lethal viral encephalitis. Fanconi anemia complementation group C (FANCC) protein interacts with Parkin, is required in vitro and in vivo for clearance of damaged mitochondria, and decreases mitochondrial reactive oxygen species (ROS) production and inflammasome activation.
Title: Fanconi Anemia Proteins Function in Mitophagy and Immunity.
Data show that Fanconi anemia, complementation group C protein knockout (Fancc -/-) mice develop hematopoietic chromosomal instability followed by leukemia in an age-dependent manner.
Title: Leukemia and chromosomal instability in aged Fancc-/- mice.
Loss of Fancc Impairs Antibody-Secreting Cell Differentiation in Mice through Deregulating the Wnt Signaling Pathway
Title: Loss of Fancc Impairs Antibody-Secreting Cell Differentiation in Mice through Deregulating the Wnt Signaling Pathway.
Combined deficiency of Foxo3a and Fancc or Fancd2 not only impairs the self-renewal capacity but also markedly increases the apoptosis of neural stem and progenitor cells (NSPCs), leading to defective neurogenesis.
Title: Concomitant inactivation of foxo3a and fancc or fancd2 reveals a two-tier protection from oxidative stress-induced hydrocephalus.
Using mice deficient in both Mus81 and the FA pathway protein FancC, we show both proteins cooperate in parallel pathways, as concomitant loss of FancC and Mus81 triggered cell-type-specific proliferation arrest, apoptosis and DNA damage accumulation in utero.
Title: Fanconi anemia signaling and Mus81 cooperate to safeguard development and crosslink repair.
Loss of FANCC leads to a drastic increase in stalled/collapsed forks in cells carrying an Mcm4 missense mutation.
Title: A concomitant loss of dormant origins and FANCC exacerbates genome instability by impairing DNA replication fork progression.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW742919 (e-PCR)
- UniSTS:208948

BB116513 (e-PCR)
- UniSTS:185976

L08266 (e-PCR)
- UniSTS:124868

Fancc (e-PCR), detects polymorphism
- UniSTS:548038

Gene Ontology Provided by MGI

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within DNA repair	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within brain morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cellular response to oxidative stress	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cellular response to oxidative stress	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within gamete generation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within germ cell 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 myeloid cell homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within myeloid cell homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuronal stem cell population maintenance	IGI Inferred from Genetic Interaction more info	PubMed
involved_in nucleotide-excision repair	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within nucleotide-excision repair	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within removal of superoxide radicals	IGI Inferred from Genetic Interaction 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 chromatin	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: Fanconi anemia group C 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_001042673.2 → NP_001036138.1 Fanconi anemia group C protein homolog isoform 1

See identical proteins and their annotated locations for NP_001036138.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region and differs in the 3' UTR, compared to variant 4, resulting in an isoform (1) that is shorter than isoform 3. Both variants 1 and 2 encode isoform 1.

Source sequence(s)

AK035488, AK163161, AV232342

Consensus CDS

CCDS36700.1

UniProtKB/TrEMBL

Q3UI88, Q8CBR3

Related

ENSMUSP00000072788.6, ENSMUST00000073029.13

Conserved Domains (1) summary

pfam02106
Location:10 → 555

Fanconi_C; Fanconi anaemia group C protein
NM_001282942.1 → NP_001269871.1 Fanconi anemia group C protein homolog isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream in-frame start codon, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 4. The encoded isoform (2) has a shorter N-terminus, compared to isoform 3.

Source sequence(s)

AK147025, AK163161, BY431920

Consensus CDS

CCDS70472.1

UniProtKB/TrEMBL

E9QAE8

Related

ENSMUSP00000097043.4, ENSMUST00000099444.10

Conserved Domains (1) summary

pfam02106
Location:1 → 458

Fanconi_C; Fanconi anaemia group C protein
NM_001347514.1 → NP_001334443.1 Fanconi anemia group C protein homolog isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (4) encodes the longest isoform (3).

Source sequence(s)

AK147025, BY431920, CJ058789, CT009757, L08266

Consensus CDS

CCDS84029.1

UniProtKB/Swiss-Prot

E9PXX6, P50652

UniProtKB/TrEMBL

Q3UI88

Related

ENSMUSP00000124406.2, ENSMUST00000163091.8

Conserved Domains (1) summary

pfam02106
Location:10 → 588

Fanconi_C; Fanconi anaemia group C protein
NM_001347515.1 → NP_001334444.1 Fanconi anemia group C protein homolog isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 5' UTR, initiates translation from an alternate start codon, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 4. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 3.

Source sequence(s)

AC130827, AK147025, BY431920, CJ058789, CJ079722

UniProtKB/TrEMBL

Q3UI88

Conserved Domains (1) summary

pfam02106
Location:32 → 577

Fanconi_C; Fanconi anaemia group C protein
NM_007985.3 → NP_032011.2 Fanconi anemia group C protein homolog isoform 1

See identical proteins and their annotated locations for NP_032011.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) lacks an alternate in-frame exon in the 3' coding region, compared to variant 4, resulting in an isoform (1) that is shorter than isoform 3. Both variants 1 and 2 encode isoform 1.

Source sequence(s)

AK147025, AK163161, BY431920

Consensus CDS

CCDS36700.1

UniProtKB/TrEMBL

Q3UI88, Q8CBR3

Related

ENSMUSP00000123817.2, ENSMUST00000161977.8

Conserved Domains (1) summary

pfam02106
Location:10 → 555

Fanconi_C; Fanconi anaemia group C protein

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_000079.7 Reference GRCm39 C57BL/6J

Range

63452519..63645126 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011244476.4 → XP_011242778.1 Fanconi anemia group C protein homolog isoform X4

UniProtKB/TrEMBL

Q3UI88

Conserved Domains (1) summary

pfam02106
Location:32 → 553

Fanconi_C; Fanconi anaemia group C protein
XM_006517087.5 → XP_006517150.1 Fanconi anemia group C protein homolog isoform X3

UniProtKB/TrEMBL

Q3UI88

Conserved Domains (1) summary

pfam02106
Location:32 → 610

Fanconi_C; Fanconi anaemia group C protein
XM_011244484.3 → XP_011242786.1 Fanconi anemia group C protein homolog isoform X12

Conserved Domains (1) summary

pfam02106
Location:1 → 491

Fanconi_C; Fanconi anaemia group C protein
XM_011244483.3 → XP_011242785.1 Fanconi anemia group C protein homolog isoform X11

Conserved Domains (1) summary

pfam02106
Location:1 → 504

Fanconi_C; Fanconi anaemia group C protein
XM_011244477.3 → XP_011242779.1 Fanconi anemia group C protein homolog isoform X5

See identical proteins and their annotated locations for XP_011242779.1

UniProtKB/TrEMBL

Q3UI88

Conserved Domains (1) summary

pfam02106
Location:10 → 601

Fanconi_C; Fanconi anaemia group C protein
XM_030247147.1 → XP_030103007.1 Fanconi anemia group C protein homolog isoform X14

Conserved Domains (1) summary

pfam02106
Location:1 → 413

Fanconi_C; Fanconi anaemia group C protein
XM_011244481.3 → XP_011242783.1 Fanconi anemia group C protein homolog isoform X8

UniProtKB/TrEMBL

Q3UI88

Conserved Domains (1) summary

pfam02106
Location:32 → 577

Fanconi_C; Fanconi anaemia group C protein
XM_011244475.3 → XP_011242777.1 Fanconi anemia group C protein homolog isoform X2

UniProtKB/TrEMBL

Q3UI88

Conserved Domains (1) summary

pfam02106
Location:32 → 610

Fanconi_C; Fanconi anaemia group C protein
XM_011244480.3 → XP_011242782.1 Fanconi anemia group C protein homolog isoform X6

UniProtKB/TrEMBL

Q3UI88

Conserved Domains (1) summary

pfam02106
Location:32 → 590

Fanconi_C; Fanconi anaemia group C protein
XM_011244482.4 → XP_011242784.1 Fanconi anemia group C protein homolog isoform X9

Conserved Domains (1) summary

pfam02106
Location:32 → 548

Fanconi_C; Fanconi anaemia group C protein
XM_011244474.3 → XP_011242776.1 Fanconi anemia group C protein homolog isoform X1

UniProtKB/TrEMBL

Q3UI88

Conserved Domains (1) summary

pfam02106
Location:32 → 623

Fanconi_C; Fanconi anaemia group C protein
XM_017315382.3 → XP_017170871.1 Fanconi anemia group C protein homolog isoform X7

UniProtKB/Swiss-Prot

E9PXX6, P50652

UniProtKB/TrEMBL

Q3UI88

Conserved Domains (1) summary

pfam02106
Location:10 → 588

Fanconi_C; Fanconi anaemia group C protein
XM_036157847.1 → XP_036013740.1 Fanconi anemia group C protein homolog isoform X10

UniProtKB/TrEMBL

Q3UI88, Q8CBR3

Conserved Domains (1) summary

pfam02106
Location:10 → 555

Fanconi_C; Fanconi anaemia group C protein
XM_030247148.2 → XP_030103008.1 Fanconi anemia group C protein homolog isoform X14

Conserved Domains (1) summary

pfam02106
Location:1 → 413

Fanconi_C; Fanconi anaemia group C protein
XM_011244485.4 → XP_011242787.1 Fanconi anemia group C protein homolog isoform X13

Conserved Domains (1) summary

pfam02106
Location:3 → 460

Fanconi_C; Fanconi anaemia group C protein
XM_011244478.2 → XP_011242780.1 Fanconi anemia group C protein homolog isoform X5

See identical proteins and their annotated locations for XP_011242780.1

UniProtKB/TrEMBL

Q3UI88

Conserved Domains (1) summary

pfam02106
Location:10 → 601

Fanconi_C; Fanconi anaemia group C protein
XM_030247144.2 → XP_030103004.1 Fanconi anemia group C protein homolog isoform X5

UniProtKB/TrEMBL

Q3UI88

Conserved Domains (1) summary

pfam02106
Location:10 → 601

Fanconi_C; Fanconi anaemia group C protein
XM_030247145.2 → XP_030103005.1 Fanconi anemia group C protein homolog isoform X5

UniProtKB/TrEMBL

Q3UI88

Conserved Domains (1) summary

pfam02106
Location:10 → 601

Fanconi_C; Fanconi anaemia group C protein
XM_006517090.4 → XP_006517153.1 Fanconi anemia group C protein homolog isoform X7

See identical proteins and their annotated locations for XP_006517153.1

UniProtKB/Swiss-Prot

E9PXX6, P50652

UniProtKB/TrEMBL

Q3UI88

Conserved Domains (1) summary

pfam02106
Location:10 → 588

Fanconi_C; Fanconi anaemia group C protein
XM_036157844.1 → XP_036013737.1 Fanconi anemia group C protein homolog isoform X5

UniProtKB/TrEMBL

Q3UI88

Conserved Domains (1) summary

pfam02106
Location:10 → 601

Fanconi_C; Fanconi anaemia group C protein
XM_036157845.1 → XP_036013738.1 Fanconi anemia group C protein homolog isoform X7

UniProtKB/Swiss-Prot

E9PXX6, P50652

UniProtKB/TrEMBL

Q3UI88

Conserved Domains (1) summary

pfam02106
Location:10 → 588

Fanconi_C; Fanconi anaemia group C protein
XM_036157846.1 → XP_036013739.1 Fanconi anemia group C protein homolog isoform X10

UniProtKB/TrEMBL

Q3UI88, Q8CBR3

Conserved Domains (1) summary

pfam02106
Location:10 → 555

Fanconi_C; Fanconi anaemia group C protein
XM_036157848.1 → XP_036013741.1 Fanconi anemia group C protein homolog isoform X15

Conserved Domains (1) summary

pfam02106
Location:1 → 380

Fanconi_C; Fanconi anaemia group C protein