Entity Details

Primary name FAN1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9Y2M0
EntryNameFAN1_HUMAN
FullNameFanconi-associated nuclease 1
TaxID9606
Evidenceevidence at protein level
Length1017
SequenceStatuscomplete
DateCreated2007-11-13
DateModified2021-06-02

Ontological Relatives

GenesFAN1

GO terms

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GOName
GO:0000287 magnesium ion binding
GO:0000724 double-strand break repair via homologous recombination
GO:0004528 phosphodiesterase I activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0006281 DNA repair
GO:0006289 nucleotide-excision repair
GO:0008409 5'-3' exonuclease activity
GO:0017108 5'-flap endonuclease activity
GO:0033683 nucleotide-excision repair, DNA incision
GO:0036297 interstrand cross-link repair
GO:0045171 intercellular bridge
GO:0070336 flap-structured DNA binding
GO:0140036 ubiquitin-dependent protein binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR006642 Rad18, zinc finger UBZ4-typeDomainDomain
IPR011856 tRNA endonuclease-like domain superfamilyFamilyHomologous superfamily
IPR014883 VRR-NUC domainDomainDomain
IPR033315 Fanconi-associated nuclease 1-likeFamilyFamily

Diseases

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Disease IDSourceNameDescription
614817 OMIMInterstitial nephritis, karyomegalic (KMIN)A rare kidney disease characterized by chronic tubulointerstitial nephritis associated with massively enlarged tubular epithelial cell nuclei. The clinical picture is associated with recurrent upper respiratory tract infections in addition to chronic kidney disease beginning in the third decade of life. The disease is caused by variants affecting the gene represented in this entry.