Fanconi anemia, complementation group C

Fanconi anemia group C protein is a protein that in humans is encoded by the FANCC gene.^[5][6] This protein delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA. Mutations in this gene result in Fanconi anemia, a human rare disorder characterized by cancer susceptibility and cellular sensitivity to DNA crosslinks and other damages.^[6][7]

FANCC
Identifiers
Aliases	FANCC, Fancc, Facc, FA3, FAC, mir-3074-1, FACC, Fanconi anemia complementation group C, FA complementation group C
External IDs	OMIM: 613899; MGI: 95480; HomoloGene: 109; GeneCards: FANCC; OMA:FANCC - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q22.32 Start 95,099,054 bp[1] End 95,426,796 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13 B3|13 32.8 cM Start 63,432,857 bp[2] End 63,645,092 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pancreatic ductal cell right lobe of liver testicle gonad right testis left testis sural nerve cerebellar hemisphere right hemisphere of cerebellum Achilles tendon Top expressed in zygote secondary oocyte extensor digitorum longus muscle cardiac muscle tissue of left ventricle ilium plantaris muscle corneal stroma primary oocyte interventricular septum Ileal epithelium More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component cytoplasm cytosol Fanconi anaemia nuclear complex nucleus nucleoplasm Biological process interstrand cross-link repair DNA repair cellular response to DNA damage stimulus myeloid cell homeostasis nucleotide-excision repair gamete generation germ cell development removal of superoxide radicals cellular response to oxidative stress brain morphogenesis neuronal stem cell population maintenance protein-containing complex assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2176 14088 Ensembl ENSG00000158169 ENSMUSG00000021461 UniProt Q00597 P50652 RefSeq (mRNA) NM_000136 NM_001243743 NM_001243744 NM_001042673 NM_001282942 NM_007985 NM_001347514 NM_001347515 RefSeq (protein) NP_000127 NP_001230672 NP_001230673 NP_001036138 NP_001269871 NP_001334443 NP_001334444 NP_032011 Location (UCSC) Chr 9: 95.1 – 95.43 Mb Chr 13: 63.43 – 63.65 Mb PubMed search [3] [4]
Wikidata
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Structure

Fanconi anaemia group C protein
Identifiers
Symbol	Fanconi_C
Pfam	PF02106
InterPro	IPR000686
Available protein structures: Pfam   structures / ECOD   PDB RCSB PDB; PDBe; PDBj PDBsum structure summary

Function

A nuclear complex containing FANCC protein (as well as FANCA, FANCF and FANCG) is essential for the activation of the FANCD2 protein to the mono-ubiquitinated isoform.^[8] In normal, non-mutant, cells FANCD2 is mono-ubiquinated in response to DNA damage. FANCC together with FANCE acts as the substrate adaptor for this reaction ^[9] Activated FANCD2 protein co-localizes with BRCA1 (breast cancer susceptibility protein) at ionizing radiation-induced foci and in synaptonemal complexes of meiotic chromosomes. Activated FANCD2 protein may function prior to the initiation of meiotic recombination, perhaps to prepare chromosomes for synapsis, or to regulate subsequent recombination events.^[8]

FANCC(-/-) mutant male and female mice have compromised gametogenesis, leading to markedly impaired fertility, a characteristic of Fanconi anemia patients.^[10] Both male and female FANCC mutant mice have reduced numbers of germ cells.^[11]

Interactions

Fanconi anemia, complementation group C has been shown to interact with:

• Cdk1,^[12][13]
• FANCA,^{[14][15][16][17][18][19][20][21]}
• FANCE,^{[20][22][23][24][25]}
• FANCF,^[15][22]
• GSTP1,^[12][26]
• HSPA1A,^[12][27]
• SPTAN1,^[14][28]
• STAT1,^[12][29][30] and
• ZBTB32.^[12][31]