FANCC (Fanconi anaemia complementation group C)

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FANCC (Fanconi anaemia complementation group C)

Identity

Other names	FAC
	FACC
	FA3
HGNC (Hugo)	FANCC
LocusID (NCBI)	2176
Location	9q22.32
Location_base_pair	Starts at 97861336 and ends at 98079991 bp from pter ( according to hg19-Feb_2009) [Mapping]
Local_order	Next to PTCH and XPAC !!


	Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.

DNA/RNA

Description	14 exons; spans 80 kb.
Transcription	mRNA of 2.3, 3.2, and 4.6 kb (alternative splicing in 5', variable 3' untranslated region, exon 13 skipping).

Protein

Description	558 amino acids; 63 kDa.
Expression	Wide, in particular in the bones; high expression in proliferating cells, low in differentiated cells.
Localisation	Cytoplasmic (mostly) and nuclear.
Function	- FANCA and FANCG form a complex in the cytoplasm, through a N-term FANCA (involving the nuclear localization signal) - FANCG interaction; FANCC join the complex; phosphorylation of FANCA would induce its translocation into the nucleus. This FA complex translocates into the nucleus, where FANCE and FANCF are present; FANCE and FANCF join the complex. The FA complex subsequently interacts with FANCD2 by monoubiquitination of FANCD2 during S phase or following DNA damage. Activated (ubiquinated ) FANCD2, downstream in the FA pathway, will then interact with other proteins involved in DNA repair, possibly BRCA1; after DNA repair, FANCD2 return to the non-ubiquinated form. - FANCC may have mutlifunctional roles, in addition to its involvement in the FA pathway. FANCC binds to cdc2 (mitotic cyclin-dependent kinase), STAT1, GRP94 (a chaperon protein), NADPH, and a number of other proteins; involved in DNA repair and in suppressing interferon gamma induced cellular apoptosis. There are 15 FA genes that make up the FA pathway. Among these FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCM and FANCL form the core complex. During G1 phase of cell cycle these proteins are localized in the cytoplasm. During S phase or during DNA damage FANCA and FANCG at first form a complex in the cytoplasm followed by its interaction with FANCC. Then the complex translocates to the nucleus. In the nucleus other FA proteins like FANCE, F, B, M and L interact with the complex. They cooperatively bind to form the core complex. FANCL has E3 ubiquitin ligase activity. The core complex then activates FANCD2 and FANCI by monoubiquitination. The activated FANCD2-FANCI complex then interact with other FA genes like FANCP/SLX4, FANCD1/BRCA2, FANCJ/BRIP1 and FANCN/PALB2 for efficient DNA repair. FANCC helps in accumulation of FANCE and it has role in foci formation of MRE11/RAD50/NBS1 complex in response to intrastrand crosslink inducers. FANCC binds to cdc2 (mitotic cyclin-dependent kinase), it is necessary for DNA damage-induced G2/M checkpoint in vitro and in vivo. In response to oxidative DNA damage, FANCC prevents premature senescence in hematopoietic stem cells. It interacts with cytochrome p-450 reductase and NADPH during increased production of reactive oxygen species (ROS). In hematopoietic stem cells it regulates apoptosis, self renewal capacity and cell cycle control. It inhibits activity of dsRNA dependent protein kinase mediated death signaling pathway by interacting with Hsp70. FANCC and p53 cooperatively work in apoptosis. It has role in suppressing interferon gamma induced cellular apoptosis. In normal oral epithelium, a gradual increase of FANCC protein expression from basal to parabasal layer to spinous layer suggesting its role in cellular proliferation and differentiation. FANCC is important for proper functioning of monocytes/macrophages. It suppresses TNFα production in mononuclear phagocytes by suppressing TLR8 activity. FANCC interacts with STAT1, GRP94 (a chaperon protein). It has role in telomere attrition and telomere recombination.
Homology	No known homology.

Mutations

Germinal

Most mutations are found in exon1, intron 4, and exon 14.

Implicated in

Entity	Fanconi anaemia (FA)
Note	FACC is implicated in the FA complementation group C; it represents about 15% of FA cases.
Disease	Fanconi anaemia is a chromosome instability syndrome/cancer prone disease (at risk of leukaemia).
Prognosis	- Fanconi anaemia's prognosis is poor; mean survival is 16 years: patients die of bone marrow failure (infections, haemorrhages), leukaemia, or androgen therapy related liver tumours. - It has recently been shown that significant phenotypic differences were found between the various complementation groups. FA group C patients had less somatic abnormalities. However, there is a certain clinical heterogeneity.
Cytogenetics	Spontaneous,chromatid/chromosome breaks; increased rate of breaks compared to control, when induced by breaking agent.
Hybrid/Mutated Gene	Mutations in exon 4, 13 leading to deletion of exon 9 were reported in Brazilian Fanconi Anemia patients.
Oncogenesis	Fanconi anemia patients are prone to develop head and neck, esophageal, gastrointestinal, vulvar and anal cancers. Frequent deletion and promoter methylation are observed in FANCC gene in oral cancer, breast cancer, acute leukemia and pancreatic cancer.

Entity	Diabetes and obesity
Note	FANCC prevents diabetes and obesity.

To be noted

Apart from its function in DNA damage repair, FANCC plays important role in apoptosis, cell cycle, differentiation and innate immunity.

External links

	Nomenclature
HGNC (Hugo)	FANCC 3584
	Cards
Atlas	FACCID101
Entrez_Gene (NCBI)	FANCC 2176 Fanconi anemia, complementation group C
GeneCards (Weizmann)	FANCC
Ensembl hg19 (Hinxton)	ENSG00000158169 [Gene_View] chr9:97861336-98079991 [Contig_View] FANCC [Vega]
Ensembl hg38 (Hinxton)	ENSG00000158169 [Gene_View] chr9:97861336-98079991 [Contig_View] FANCC [Vega]
ICGC DataPortal	ENSG00000158169
cBioPortal	FANCC
AceView (NCBI)	FANCC
Genatlas (Paris)	FANCC
WikiGenes	2176
SOURCE (Princeton)	FANCC
	Genomic and cartography
GoldenPath hg19 (UCSC)	FANCC - chr9:97861336-98079991 - 9q22.3 [Description] (hg19-Feb_2009)
GoldenPath hg38 (UCSC)	FANCC - 9q22.3 [Description] (hg38-Dec_2013)
Ensembl	FANCC - 9q22.3 [CytoView hg19] FANCC - 9q22.3 [CytoView hg38]
Mapping of homologs : NCBI	FANCC [Mapview hg19] FANCC [Mapview hg38]
OMIM	227645 613899
	Gene and transcription
Genbank (Entrez)	AI280997 AK222871 AK304887 AK310599 AK312548
RefSeq transcript (Entrez)	NM_000136 NM_001243743 NM_001243744
RefSeq genomic (Entrez)	AC_000141 NC_000009 NC_018920 NG_011707 NT_008470 NW_001839235 NW_004929366
Consensus coding sequences : CCDS (NCBI)	FANCC
Cluster EST : Unigene	Hs.494529 [ NCBI ]
CGAP (NCI)	Hs.494529
Alternative Splicing : Fast-db (Paris)	GSHG0030978
Alternative Splicing Gallery	ENSG00000158169
Gene Expression	FANCC [ NCBI-GEO ] FANCC [ SEEK ] FANCC [ MEM ]
SOURCE (Princeton)	Expression in : [Normal Tissue Atlas] [carcinoma Classsification] [NCI60]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	Q00597 (Uniprot)
NextProt	Q00597 [Medical]
With graphics : InterPro	Q00597
Splice isoforms : SwissVar	Q00597 (Swissvar)
Domains : Interpro (EBI)	Fanconi
Related proteins : CluSTr	Q00597
Domain families : Pfam (Sanger)	Fanconi_C (PF02106)
Domain families : Pfam (NCBI)	pfam02106
DMDM Disease mutations	2176
Blocks (Seattle)	Q00597
Human Protein Atlas	ENSG00000158169
Peptide Atlas	Q00597
HPRD	01967
IPI	IPI00023608 IPI00745713 IPI00645428
	Protein Interaction databases
DIP (DOE-UCLA)	Q00597
IntAct (EBI)	Q00597
FunCoup	ENSG00000158169
BioGRID	FANCC
IntegromeDB	FANCC
STRING (EMBL)	FANCC
	Ontologies - Pathways
QuickGO	Q00597
Ontology : AmiGO	myeloid cell homeostasis protein binding nucleus nucleoplasm cytoplasm cytosol DNA repair nucleotide-excision repair protein complex assembly germ cell development removal of superoxide radicals Fanconi anaemia nuclear complex
Ontology : EGO-EBI	myeloid cell homeostasis protein binding nucleus nucleoplasm cytoplasm cytosol DNA repair nucleotide-excision repair protein complex assembly germ cell development removal of superoxide radicals Fanconi anaemia nuclear complex
Pathways : BIOCARTA	Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility [Genes] BRCA1-dependent Ub-ligase activity [Genes]
Pathways : KEGG	Fanconi anemia pathway
REACTOME	Q00597 [protein]
REACTOME Pathways	REACT_216 DNA Repair [pathway]
Protein Interaction Database	FANCC
DoCM (Curated mutations)	FANCC
Wikipedia pathways	FANCC
	Gene fusion - rearrangements
	Polymorphisms : SNP, variants
NCBI Variation Viewer	FANCC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	FANCC
dbVar	FANCC
ClinVar	FANCC
1000_Genomes	FANCC
Exome Variant Server	FANCC
SNP (GeneSNP Utah)	FANCC
SNP : HGBase	FANCC
Genetic variants : HAPMAP	FANCC
Genomic Variants	FANCC FANCC [DGVbeta]
	Mutations
ICGC Data Portal	ENSG00000158169
Cancer Gene: Census	FANCC
Somatic Mutations in Cancer : COSMIC	FANCC
CONAN: Copy Number Analysis	FANCC
LOVD (Leiden Open Variation Database)	Whole genome datasets
LOVD (Leiden Open Variation Database)	LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)	LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)	PUBLIC CCHMC Molecular Genetics Laboratory Mutation Database
LOVD (Leiden Open Variation Database)	Fanconi anemia database
Impact of mutations	[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor]
	Diseases
DECIPHER (Syndromes)	9:97861336-98079991
Mutations and Diseases : HGMD	FANCC
OMIM	227645 613899
Medgen	FANCC
NextProt	Q00597 [Medical]
GENETests	FANCC
Disease Genetic Association	FANCC
Huge Navigator	FANCC [HugePedia] FANCC [HugeCancerGEM]
snp3D : Map Gene to Disease	2176
DGIdb (Drug Gene Interaction db)	FANCC
	General knowledge
Homologs : HomoloGene	FANCC
Homology/Alignments : Family Browser (UCSC)	FANCC
Phylogenetic Trees/Animal Genes : TreeFam	FANCC
Chemical/Protein Interactions : CTD	2176
Chemical/Pharm GKB Gene	PA27997
Clinical trial	FANCC
Cancer Resource (Charite)	ENSG00000158169
	Other databases
	Probes
	Litterature
PubMed	119 Pubmed reference(s) in Entrez
CoreMine	FANCC
GoPubMed	FANCC
iHOP	FANCC

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PMID 14625294

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PMID 15377654

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Mol Cell. 2004 Aug 27;15(4):607-20.

PMID 15327776

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PMID 15695377

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PMID 16127171

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PMID 16020692

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Contributor(s)

Written	02-1998	Jean-Loup Huret
		Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Updated	06-2002	Jean-Loup Huret
		Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Updated	07-2012	Hemantika Dasgupta, Chinmay Kumar Panda
		Chittaranjan National Cancer Institute, 37, S P Mukherjee Road, Kolkata 700026, India

Citation

This paper should be referenced as such :

Dasgupta, H ; Panda, CK

FANCC (Fanconi anaemia complementation group C)

Atlas Genet Cytogenet Oncol Haematol. 2013;17(1):17-20.

Free online version Free pdf version [Bibliographic record ]

History of this paper:

Dasgupta, H ; Panda, CK. FANCC (Fanconi anaemia complementation group C). Atlas Genet Cytogenet Oncol Haematol. 2013;17(1):17-20.

http://documents.irevues.inist.fr/bitstream/handle/2042/32097/02-1998-FACC101.pdf

Atlas Genet Cytogenet Oncol Haematol. June 2002

URL : http://AtlasGeneticsOncology.org/Genes/FACCID101.html

indexed on : Sun Dec 21 03:15:24 CET 2014

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For comments and suggestions or contributions, please contact us

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