• Gene id: 22909

Gene Summary

• Gene Symbol: FAN1   Gene   UCSC   Ensembl
• Aliases: KIAA1018, KMIN, MTMR15, hFAN1
• Gene name: FANCD2 and FANCI associated nuclease 1
• Alternate names: fanconi-associated nuclease 1, FANCD2/FANCI-associated nuclease 1, coiled-coil domain-containing protein MTMR15, fanconi anemia associated nuclease 1, myotubularin-related protein 15,
• Gene location: 15q13.3 (30903851: 30943107)     Exons: 16     NC_000015.10
• Gene summary(Entrez): 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
• OMIM: 613534

Protein Summary

• Protein general information: Q9Y2M0  
  • Name: Fanconi associated nuclease 1 (EC 3.1.21. ) (EC 3.1.4.1) (FANCD2/FANCI associated nuclease 1) (hFAN1) (Myotubularin related protein 15)
  • Length: 1017  
  • Mass: 114225
• Sequence:

  MMSEGKPPDKKRPRRSLSISKNKKKASNSIISCFNNAPPAKLACPVCSKMVPRYDLNRHLDEMCANNDFVQVDPG
  QVGLINSNVSMVDLTSVTLEDVTPKKSPPPKTNLTPGQSDSAKREVKQKISPYFKSNDVVCKNQDELRNRSVKVI
  CLGSLASKLSRKYVKAKKSIDKDEEFAGSSPQSSKSTVVKSLIDNSSEIEDEDQILENSSQKENVFKCDSLKEEC
  IPEHMVRGSKIMEAESQKATRECEKSALTPGFSDNAIMLFSPDFTLRNTLKSTSEDSLVKQECIKEVVEKREACH
  CEEVKMTVASEAKIQLSDSEAKSHSSADDASAWSNIQEAPLQDDSCLNNDIPHSIPLEQGSSCNGPGQTTGHPYY
  LRSFLVVLKTVLENEDDMLLFDEQEKGIVTKFYQLSATGQKLYVRLFQRKLSWIKMTKLEYEEIALDLTPVIEEL
  TNAGFLQTESELQELSEVLELLSAPELKSLAKTFHLVNPNGQKQQLVDAFLKLAKQRSVCTWGKNKPGIGAVILK
  RAKALAGQSVRICKGPRAVFSRILLLFSLTDSMEDEDAACGGQGQLSTVLLVNLGRMEFPSYTINRKTHIFQDRD
  DLIRYAAATHMLSDISSAMANGNWEEAKELAQCAKRDWNRLKNHPSLRCHEDLPLFLRCFTVGWIYTRILSRFVE
  ILQRLHMYEEAVRELESLLSQRIYCPDSRGRWWDRLALNLHQHLKRLEPTIKCITEGLADPEVRTGHRLSLYQRA
  VRLRESPSCKKFKHLFQQLPEMAVQDVKHVTITGRLCPQRGMCKSVFVMEAGEAADPTTVLCSVEELALAHYRRS
  GFDQGIHGEGSTFSTLYGLLLWDIIFMDGIPDVFRNACQAFPLDLCTDSFFTSRRPALEARLQLIHDAPEESLRA
  WVAATWHEQEGRVASLVSWDRFTSLQQAQDLVSCLGGPVLSGVCRHLAADFRHCRGGLPDLVVWNSQSRHFKLVE
  VKGPNDRLSHKQMIWLAELQKLGAEVEVCHVVAVGAKSQSLS

• Structural information:
  • Protein Domains: (895..100-)
    (/note="VRR-NUC"-)
  • Interpro: IPR033315  IPR011856  IPR014883  IPR006642  
  • Prosite: PS51908
  • PDB: 4REA 4REB 4REC 4RI8 4RI9 4RIA 4RIB 4RIC 4RID 4RY3
  • PDBsum: 4REA 4REB 4REC 4RI8 4RI9 4RIA 4RIB 4RIC 4RID 4RY3
  • STRING: ENSP00000354497
• Other Databases: GeneCards:  FAN1  Malacards:  FAN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070336	flap-structured DNA binding	IBA	molecular function
GO:0036297	interstrand cross-link repair	IBA	biological process
GO:0017108	5'-flap endonuclease activity	IBA	molecular function
GO:0008409	5'-3' exonuclease activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0070336	flap-structured DNA binding	IDA	molecular function
GO:0036297	interstrand cross-link repair	IDA	biological process
GO:0017108	5'-flap endonuclease activity	IDA	molecular function
GO:0008409	5'-3' exonuclease activity	IDA	molecular function
GO:0033683	nucleotide-excision repair, DNA incision	IDA	biological process
GO:0008409	5'-3' exonuclease activity	IDA	molecular function
GO:0140036	ubiquitin-dependent protein binding	IDA	molecular function
GO:0140036	ubiquitin-dependent protein binding	IDA	molecular function
GO:0033683	nucleotide-excision repair, DNA incision	IDA	biological process
GO:0017108	5'-flap endonuclease activity	IDA	molecular function
GO:0017108	5'-flap endonuclease activity	IDA	molecular function
GO:0017108	5'-flap endonuclease activity	IDA	molecular function
GO:0008409	5'-3' exonuclease activity	IDA	molecular function
GO:0008409	5'-3' exonuclease activity	IDA	molecular function
GO:0008409	5'-3' exonuclease activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0006289	nucleotide-excision repair	IMP	biological process
GO:0006281	DNA repair	IMP	biological process
GO:0000287	magnesium ion binding	TAS	molecular function
GO:0033683	nucleotide-excision repair, DNA incision	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000724	double-strand break repair via homologous recombination	IMP	biological process
GO:0000724	double-strand break repair via homologous recombination	IMP	biological process
GO:0004518	nuclease activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0016788	hydrolase activity, acting on ester bonds	IEA	molecular function
GO:0036297	interstrand cross-link repair	IEA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0004519	endonuclease activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0004518	nuclease activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0004527	exonuclease activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0004528	phosphodiesterase I activity	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0036297	interstrand cross-link repair	TAS	biological process
GO:0008409	5'-3' exonuclease activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0045171	intercellular bridge	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03460	Fanconi anemia pathway

Diseases

Associated diseases	References
Chromosome 15q13.3 microdeletion syndrome	KEGG:H01877
Chromosome 15q13.3 microdeletion syndrome	KEGG:H01877
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)