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FLASH GENE

Symbol

FANCC

contributors: mct/npt/pgu - updated : 05-10-2022

HGNC name	Fanconi anemia, complementation group C
HGNC id	3584

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEL9Q22 chromosome 9q22.3 microdeletion syndrome FANCC Fanconi anemia, complementation group C
Location	9q22.32      Physical location : 97.861.337 - 98.079.991
Synonym name	protein FACC
Synonym symbol(s)	FACC, FAC, FA3, FLJ14675, RP11-80I15.2, bA80I15.1

DNA

TYPE	functioning gene
STRUCTURE	218.65 kb     15 Exon(s)

10 Kb 5' upstream gene genomic sequence study

text structure

two alternative 5' exons-1 and -1a

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000136 15 - 4612 NP_000127 63 558 - 1994 7517562

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon       liver       highly Endocrine thyroid       highly Lymphoid/Immune thymus       highly Reproductive male system testis     highly Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

unknown structural motifs

mono polymer

complex

HOMOLOGY

Homologene

FAMILY

CATEGORY

DNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleolus
text	predominantly cytoplasmic protein

basic FUNCTION	controlling the correct functioning of the replicative, repair and recombination machineries
	involved in the fidelity of end-joining of specific double strand break in the cytoplasmic defense against a specific class of genotoxic agents and in the repair of oxidatively damaged DNA
	protection of hematopoietic cells from cytotxicity induced by IFNG, TNF and RNA
	required to prevent accumulation of replication-associated DNA double-strand breaks
	suppresses cross-linker-induced genotoxicity, modulates growth-inhibitory cytokine responses, and modulates endotoxin responses
	does not directly regulate long telomeres, but does regulate short telomere-initiated telomere recombination
	may be functioning to control cell viability and immortalization of primary cells by influencing telomere attrition and telomere recombination
	FANCA and FANCC modulate TLR and MAPK14-dependent expression of IL1B in macrophages
	important role for UNC5A, a candidate tumor suppressor, in predicting response to DNA damage induced by chemotherapeutic drug and regulating cell death in bladder cancer
	has multiple functions including DNA damage signaling, oxygen radical metabolism, signal transduction, transcriptional regulation and apoptosis
	might play a role in axonal-like growth processes
	FANCC plays a role in tissue development through the regulation of UNC5A-mediated functions

CELLULAR PROCESS	cell life, antiapoptosis
	nucleotide, replication
	nucleotide, genomic integrity

PHYSIOLOGICAL PROCESS

text	essential for the correction of cross-linking defects

PATHWAY

metabolism

signaling

chromosome instability pathway

a component	of a nuclear complex with FANCA, FANCF, FANCG (XRCC9)
	member of the Group I Fanconi anemia proteins including also FANCA, FANCB, FANCM, FANCE, FANCF, FANCG, FANCL
	cytoplasmic FANCA-FANCC complex was essential for NPM1stability

INTERACTION

DNA

RNA

small molecule

protein	interacting with Hsp70 to prevent apoptosis of hematopoitic cells and with STAT1(activation of STAT1 in response to cytokine and growth factors)
	FANCA, FANCE, FANCG
	FANCE-mediated association of FANCC with FANCD2
	regulates the monoubiquitination of FANCD2
	regulates XRCC3, telomere-binding proteins or histone methyltransferases in telomere recombination
	HELQ contributes to genome stability in unchallenged conditions through a mechanism distinct from the function of FANCC
	FANCC interacts with UNC5A and delays UNC5A-mediated apoptosis (

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

FANCC , DEL9Q22

related resource

Fanconi Anaemia Mutation Database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       loss of function in leukemias tumoral     --low   by hypermethylation of promoter regions in sporadic acute leukaemia constitutional       loss of function associated with failure to inhibit late firing replication origins after DNA cross-linking constitutional       loss of function facilitates short telomere-initiated telomere recombination tumoral     --low   in bladder cancer

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	alterations of FANCC and PTCH1 could be used as molecular marker for early diagnosis and prognosis of head and neck squamous cell carcinoma (HNSCC)
Therapy target	introducing expression cassettes for TT-adapted U1 snRNAs into primary FANCC patient fibroblasts allowed the correction of the DNA-damage-induced G2 cell-cycle arrest in these cells, thus representing an alternative transcript-targeting approach for genetic therapy of inherited splice-site mutations

ANIMAL & CELL MODELS