FANCA

FANCA
Identifiers
Aliases	FANCA, FA, FA-H, FA1, FAA, FACA, FAH, FANCH, Fanconi anemia complementation group A
External IDs	MGI: 1341823 HomoloGene: 108 GeneCards: FANCA
Gene ontology Molecular function • protein binding Cellular component • cytoplasm • Fanconi anaemia nuclear complex • nucleus • nucleoplasm Biological process • male meiosis • male gonad development • regulation of cell proliferation • interstrand cross-link repair • DNA repair • female gonad development • protein complex assembly • cellular response to DNA damage stimulus • regulation of sequence-specific DNA binding transcription factor activity • regulation of CD40 signaling pathway • regulation of regulatory T cell differentiation • regulation of inflammatory response Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2175	14087
Ensembl	ENSG00000187741	ENSMUSG00000032815
UniProt	O15360	Q9JL70
RefSeq (mRNA)	NM_000135 NM_001018112 NM_001286167	NM_016925
RefSeq (protein)	NP_000126 NP_001018122 NP_001273096	NP_058621.2 NP_058621
Location (UCSC)	Chr 16: 89.74 – 89.82 Mb	Chr 8: 123.27 – 123.32 Mb
PubMed search

Fanconi anaemia group A protein
Identifiers
Symbol	Fanconi_A
Pfam	PF03511
InterPro	IPR003516
Available protein structures: Pfam structures PDB RCSB PDB; PDBe; PDBj PDBsum structure summary

Available protein structures:
Pfam	structures
PDB	RCSB PDB; PDBe; PDBj
PDBsum	structure summary

2175

14087

ENSG00000187741

ENSMUSG00000032815

O15360

Q9JL70

NM_000135
NM_001018112
NM_001286167

NM_016925

NP_000126
NP_001018122
NP_001273096

NP_058621.2
NP_058621

Fanconi anaemia, complementation group A, also known as FAA, FACA and FANCA, is a protein which in humans is encoded by the FANCA gene. It belongs to the Fanconi anaemia complementation group (FANC) family of genes of which 12 complementation groups are currently recognized and is hypothesised to operate as a post-replication repair or a cell cycle checkpoint. FANCA proteins are involved in inter-strand DNA cross-link repair and in the maintenance of normal chromosome stability that regulates the differentiation of haematopoietic stem cells into mature blood cells.

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