Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	22909
Gene name	FANCD2 and FANCI associated nuclease 1
Gene symbol	FAN1
Synonyms (NCBI Gene)	KIAA1018KMINMTMR15hFAN1
Chromosome	15
Chromosome location	15q13.3
Summary	This gene plays a role in DNA interstrand cross-link repair and encodes a protein with 5` flap endonuclease and 5`-3` exonuclease activity. Mutations in this gene cause karyomegalic interstitial nephritis. Alternatively spliced transcript variants encodin

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs761988851	T>-	Pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant
rs767435461	T>A	Pathogenic	Intron variant, splice donor variant
rs774499986	GT>-	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant
rs778075842	C>G,T	Pathogenic	Intron variant, coding sequence variant, stop gained, non coding transcript variant, 5 prime UTR variant, missense variant
rs781134478	T>G	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs1305708707	G>A	Pathogenic	Splice donor variant

Show/Hide all (83)

miRTarBase ID	miRNA	Experiments	Reference
MIRT036619	hsa-miR-940	CLASH	23622248
MIRT988920	hsa-miR-3616-5p	CLIP-seq
MIRT988921	hsa-miR-3647-5p	CLIP-seq
MIRT988922	hsa-miR-548c-3p	CLIP-seq
MIRT988923	hsa-miR-573	CLIP-seq
MIRT988924	hsa-miR-1183	CLIP-seq
MIRT988925	hsa-miR-1297	CLIP-seq
MIRT988926	hsa-miR-26a	CLIP-seq
MIRT988927	hsa-miR-26b	CLIP-seq
MIRT988928	hsa-miR-300	CLIP-seq
MIRT988929	hsa-miR-381	CLIP-seq
MIRT988930	hsa-miR-4465	CLIP-seq
MIRT988931	hsa-miR-4666-3p	CLIP-seq
MIRT988932	hsa-miR-4705	CLIP-seq
MIRT988924	hsa-miR-1183	CLIP-seq
MIRT988925	hsa-miR-1297	CLIP-seq
MIRT988926	hsa-miR-26a	CLIP-seq
MIRT988927	hsa-miR-26b	CLIP-seq
MIRT988928	hsa-miR-300	CLIP-seq
MIRT988929	hsa-miR-381	CLIP-seq
MIRT988930	hsa-miR-4465	CLIP-seq
MIRT988931	hsa-miR-4666-3p	CLIP-seq
MIRT988932	hsa-miR-4705	CLIP-seq
MIRT1993025	hsa-miR-513c	CLIP-seq
MIRT1993026	hsa-miR-514b-5p	CLIP-seq
MIRT2226965	hsa-miR-186	CLIP-seq
MIRT2226966	hsa-miR-25	CLIP-seq
MIRT2226967	hsa-miR-32	CLIP-seq
MIRT2226968	hsa-miR-363	CLIP-seq
MIRT2226969	hsa-miR-367	CLIP-seq
MIRT2226970	hsa-miR-4645-5p	CLIP-seq
MIRT2226971	hsa-miR-4673	CLIP-seq
MIRT2226972	hsa-miR-92a	CLIP-seq
MIRT2226973	hsa-miR-92b	CLIP-seq
MIRT988924	hsa-miR-1183	CLIP-seq
MIRT988925	hsa-miR-1297	CLIP-seq
MIRT988926	hsa-miR-26a	CLIP-seq
MIRT988927	hsa-miR-26b	CLIP-seq
MIRT988928	hsa-miR-300	CLIP-seq
MIRT988929	hsa-miR-381	CLIP-seq
MIRT988930	hsa-miR-4465	CLIP-seq
MIRT988931	hsa-miR-4666-3p	CLIP-seq
MIRT988932	hsa-miR-4705	CLIP-seq
MIRT2530777	hsa-miR-1343	CLIP-seq
MIRT2530778	hsa-miR-181a	CLIP-seq
MIRT2530779	hsa-miR-181b	CLIP-seq
MIRT2530780	hsa-miR-181c	CLIP-seq
MIRT2530781	hsa-miR-181d	CLIP-seq
MIRT2530782	hsa-miR-194	CLIP-seq
MIRT2530783	hsa-miR-196a	CLIP-seq
MIRT2530784	hsa-miR-196b	CLIP-seq
MIRT2530785	hsa-miR-3135	CLIP-seq
MIRT2530786	hsa-miR-3143	CLIP-seq
MIRT2530787	hsa-miR-3152-5p	CLIP-seq
MIRT2530788	hsa-miR-3927	CLIP-seq
MIRT2530789	hsa-miR-4262	CLIP-seq
MIRT2530790	hsa-miR-4289	CLIP-seq
MIRT2530791	hsa-miR-4451	CLIP-seq
MIRT2530792	hsa-miR-4649-3p	CLIP-seq
MIRT2530793	hsa-miR-4774-3p	CLIP-seq
MIRT2530794	hsa-miR-4789-3p	CLIP-seq
MIRT2530795	hsa-miR-505	CLIP-seq
MIRT2530796	hsa-miR-543	CLIP-seq
MIRT2530797	hsa-miR-548t	CLIP-seq
MIRT2530798	hsa-miR-664	CLIP-seq
MIRT2530799	hsa-miR-802	CLIP-seq
MIRT2530777	hsa-miR-1343	CLIP-seq
MIRT2530778	hsa-miR-181a	CLIP-seq
MIRT2530779	hsa-miR-181b	CLIP-seq
MIRT2530780	hsa-miR-181c	CLIP-seq
MIRT2530781	hsa-miR-181d	CLIP-seq
MIRT2530786	hsa-miR-3143	CLIP-seq
MIRT2530787	hsa-miR-3152-5p	CLIP-seq
MIRT2530789	hsa-miR-4262	CLIP-seq
MIRT2680760	hsa-miR-4264	CLIP-seq
MIRT2530790	hsa-miR-4289	CLIP-seq
MIRT2680761	hsa-miR-4324	CLIP-seq
MIRT2530792	hsa-miR-4649-3p	CLIP-seq
MIRT2680762	hsa-miR-4693-3p	CLIP-seq
MIRT2530793	hsa-miR-4774-3p	CLIP-seq
MIRT2680763	hsa-miR-4797-3p	CLIP-seq
MIRT2530796	hsa-miR-543	CLIP-seq
MIRT2530798	hsa-miR-664	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	TAS	20603016
GO:0000724	Process	Double-strand break repair via homologous recombination	IMP	20603015, 20603016
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0004527	Function	Exonuclease activity	IEA
GO:0004528	Function	Phosphodiesterase I activity	IEA
GO:0005515	Function	Protein binding	IPI	20603015, 20603016, 20603073
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	20603015, 20603016, 20603073
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005929	Component	Cilium	IDA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IMP	20603073
GO:0006289	Process	Nucleotide-excision repair	IDA	20603015, 25430771
GO:0006289	Process	Nucleotide-excision repair	IMP	20603016
GO:0006974	Process	DNA damage response	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008409	Function	5'-3' exonuclease activity	IBA
GO:0008409	Function	5'-3' exonuclease activity	IDA	20603015, 20603016, 20603073, 24981866, 25430771
GO:0008409	Function	5'-3' exonuclease activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016788	Function	Hydrolase activity, acting on ester bonds	IEA
GO:0017108	Function	5'-flap endonuclease activity	IBA
GO:0017108	Function	5'-flap endonuclease activity	IDA	20603015, 20603016, 20603073, 24981866
GO:0036297	Process	Interstrand cross-link repair	IBA
GO:0036297	Process	Interstrand cross-link repair	IDA	25430771
GO:0036297	Process	Interstrand cross-link repair	IEA
GO:0045171	Component	Intercellular bridge	IDA
GO:0046872	Function	Metal ion binding	IEA
GO:0070336	Function	Flap-structured DNA binding	IBA
GO:0070336	Function	Flap-structured DNA binding	IDA	25430771
GO:0140036	Function	Ubiquitin-modified protein reader activity	IDA	20603015, 20603016

MIM	HGNC	e!Ensembl
613534	29170	ENSG00000198690

Q9Y2M0

Protein name

Fanconi-associated nuclease 1 (EC 3.1.21.-) (EC 3.1.4.1) (FANCD2/FANCI-associated nuclease 1) (hFAN1) (Myotubularin-related protein 15)

Protein function

Nuclease required for the repair of DNA interstrand cross-links (ICL) recruited at sites of DNA damage by monoubiquitinated FANCD2. Specifically involved in repair of ICL-induced DNA breaks by being required for efficient homologous recombinatio

PDB

4REA , 4REB , 4REC , 4RI8 , 4RI9 , 4RIA , 4RIB , 4RIC , 4RID , 4RY3 , 8S5A , 9CG4 , 9CHM , 9CL7 , 9CMA , 9EO1 , 9EOA , 9GY0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08774	VRR_NUC	893 → 1008	VRR-NUC domain	Domain

Sequence

MMSEGKPPDKKRPRRSLSISKNKKKASNSIISCFNNAPPAKLACPVCSKMVPRYDLNRHL
DEMCANNDFVQVDPGQVGLINSNVSMVDLTSVTLEDVTPKKSPPPKTNLTPGQSDSAKRE
VKQKISPYFKSNDVVCKNQDELRNRSVKVICLGSLASKLSRKYVKAKKSIDKDEEFAGSS
PQSSKSTVVKSLIDNSSEIEDEDQILENSSQKENVFKCDSLKEECIPEHMVRGSKIMEAE
SQKATRECEKSALTPGFSDNAIMLFSPDFTLRNTLKSTSEDSLVKQECIKEVVEKREACH
CEEVKMTVASEAKIQLSDSEAKSHSSADDASAWSNIQEAPLQDDSCLNNDIPHSIPLEQG
SSCNGPGQTTGHPYYLRSFLVVLKTVLENEDDMLLFDEQEKGIVTKFYQLSATGQKLYVR
LFQRKLSWIKMTKLEYEEIALDLTPVIEELTNAGFLQTESELQELSEVLELLSAPELKSL
AKTFHLVNPNGQKQQLVDAFLKLAKQRSVCTWGKNKPGIGAVILKRAKALAGQSVRICKG
PRAVFSRILLLFSLTDSMEDEDAACGGQGQLSTVLLVNLGRMEFPSYTINRKTHIFQDRD
DLIRYAAATHMLSDISSAMANGNWEEAKELAQCAKRDWNRLKNHPSLRCHEDLPLFLRCF
TVGWIYTRILSRFVEILQRLHMYEEAVRELESLLSQRIYCPDSRGRWWDRLALNLHQHLK
RLEPTIKCITEGLADPEVRTGHRLSLYQRAVRLRESPSCKKFKHLFQQLPEMAVQDVKHV
TITGRLCPQRGMCKSVFVMEAGEAADPTTVLCSVEELALAHYRRSGFDQGIHGEGSTFST
LYGLLLWDIIFMDGIPDVFRNACQAFPLDLCTDSFFTSRRPALEARLQLIHDAPEESLRA
WVAATWHEQEGRVASLVSWDRFTSLQQAQDLVSCLGGPVLSGVCRHLAADFRHCRGGLPD
LVVWNSQSRHFKLVEVKGPNDRLSHKQMIWLAELQKLGAEVEVCHVVAVGAKSQSLS

Sequence length

1017

Interactions

View interactions

	KEGG		Reactome
	Fanconi anemia pathway		Fanconi Anemia Pathway

151

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
FAN1-related disorder	Likely pathogenic; Pathogenic	rs144469584, rs387907279	RCV003421140 RCV004751230
Karyomegalic interstitial nephritis	Likely pathogenic; Pathogenic	rs2140895653, rs2140913969, rs767651793, rs199845994, rs748666715, rs144469584, rs746677293, rs774499986, rs778075842, rs750056424, rs953653119, rs767435461, rs1566921085, rs387907279, rs1305708707 View all (5 more)	RCV001536087 RCV001536108 RCV001849664 RCV005010902 RCV005356161 RCV005012942 RCV004584571 RCV002496868 RCV000500635 RCV000501496 RCV000030741 RCV000030742 RCV000030743 RCV000030744 RCV000030746 RCV000030747 RCV000030748 RCV002497330 RCV001267760 RCV001251484
Kidney failure	Likely pathogenic; Pathogenic	rs761988851	RCV005626297

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs75971779	RCV005917121
Familial cancer of breast	Benign; Likely benign	rs75971779, rs199855919	RCV005917120 RCV005903021
Gastric cancer	Benign	rs369135677	RCV005907389
Hereditary breast ovarian cancer syndrome	Conflicting classifications of pathogenicity; Uncertain significance	rs148404807, rs2062530808	RCV001374488 RCV001374500
Hereditary cancer	Conflicting classifications of pathogenicity	rs148404807	RCV003492183
Lung cancer	Uncertain significance	rs145610507	RCV005926563
Malignant tumor of esophagus	Benign; Uncertain significance	rs73381339, rs145610507, rs111839000	RCV005916711 RCV005926562 RCV005902592
Ovarian serous cystadenocarcinoma	Benign	rs75971779	RCV005917122
Uterine corpus endometrial carcinoma	Benign	rs75971779, rs111839000	RCV005917123 RCV005902593

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenomatous Polyposis Coli	Associate	39519399
Autism Spectrum Disorder	Associate	24344280
Autistic Disorder	Associate	24344280
Breast Neoplasms	Associate	24072219
Carcinoma Mucoepidermoid	Associate	33832503
Colorectal Neoplasms	Associate	35181726
Drug Hypersensitivity	Associate	20603015
Drug Related Side Effects and Adverse Reactions	Associate	32589923
Fanconi Anemia	Associate	22611161, 29051491, 33832503
Genetic Diseases Inborn	Associate	35379994
Hereditary Breast and Ovarian Cancer Syndrome	Associate	33326660
Huntington Disease	Associate	27044000, 32589923, 32898862, 35379994, 38607933
Mental Disorders	Associate	24344280
Neoplasm Metastasis	Associate	24072219
Neoplasms	Associate	24072219, 29051491, 33326660
Nephritis Interstitial	Associate	29051491
Oculocerebral hypopigmentation syndrome type Preus	Associate	29051491
Pancreatic Neoplasms	Associate	26546047
Renal Insufficiency Chronic	Associate	32111193
Schizophrenia	Associate	24344280, 27244233
Spinocerebellar Ataxias	Associate	27044000

FAN1 (FANCD2 and FANCI associated nuclease 1)