FAN1 information

FAN1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4REA, 4REB, 4REC, 4RI8, 4RI9, 4RIA, 4RIB, 4RIC, 4RID, 4RY3
Identifiers
Aliases	FAN1, KIAA1018, KMIN, MTMR15, hFANCD2/FANCI-associated nuclease 1, FANCD2 and FANCI associated nuclease 1
External IDs	OMIM: 613534; MGI: 3045266; HomoloGene: 45598; GeneCards: FAN1; OMA:FAN1 - orthologs
Gene location (Human)
Chr.	Chromosome 15 (human)
End	30,943,108 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	64,023,843 bp
RNA expression pattern
	Top expressed in
	right hemisphere of cerebellum; ; gastrocnemius muscle; ; ventricular zone; ; body of pancreas; ; ganglionic eminence; ; muscle of thigh; ; right uterine tube; ; left ovary; ; gonad; ; right frontal lobe;
	Top expressed in
	quadriceps femoris muscle; ; muscle of thigh; ; ganglionic eminence; ; epiblast; ; muscle tissue; ; white adipose tissue; ; liver; ; hypothalamus; ; skeletal muscle tissue; ; ventricular zone;
	More reference expression data
	n/a
Gene ontology
Molecular function	DNA binding; hydrolase activity, acting on ester bonds; phosphodiesterase I activity; 5'-3' exonuclease activity; flap-structured DNA binding; metal ion binding; 5'-flap endonuclease activity; protein binding; nuclease activity; endonuclease activity; exonuclease activity; hydrolase activity; magnesium ion binding; ubiquitin-dependent protein binding; nucleic acid binding;
Cellular component	nucleoplasm; intercellular bridge; nucleus; cytosol;
Biological process	nucleotide-excision repair; cellular response to DNA damage stimulus; double-strand break repair via homologous recombination; nucleotide-excision repair, DNA incision; DNA repair; interstrand cross-link repair; nucleic acid phosphodiester bond hydrolysis;
	Sources:Amigo / QuickGO
Orthologs
	22909
	330554
	ENSG00000276787; ENSG00000198690
	ENSMUSG00000033458
	Q9Y2M0
	Q69ZT1
	NM_001146094; NM_001146095; NM_001146096; NM_014967
	NM_177893
	NP_001139566; NP_001139567; NP_001139568; NP_055782
	NP_808561
	Wikidata
View/Edit Human	View/Edit Mouse

FANCD2/FANCI-associated nuclease 1 (KIAA1018) is an enzyme that in humans is encoded by the FAN1 gene. It is a structure dependent endonuclease. It is thought to play an important role in the Fanconi Anemia (FA) pathway.^[5]

^ ^a ^b ^c ENSG00000198690 GRCh38: Ensembl release 89: ENSG00000276787, ENSG00000198690 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000033458 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: FANCD2/FANCI-associated nuclease 1".

[refGRCh38Ensembl-1] ENSG00000198690 GRCh38: Ensembl release 89: ENSG00000276787, ENSG00000198690 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000033458 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: FANCD2/FANCI-associated nuclease 1".

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