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Aliases for FAN1 Gene

Aliases for FAN1 Gene

  • FANCD2/FANCI-Associated Nuclease 1 2 3 4
  • KIAA1018 2 3 4 6
  • MTMR15 3 4 6
  • Myotubularin-Related Protein 15 3 4
  • HFAN1 3 4
  • KMIN 3 6
  • Coiled-Coil Domain-Containing Protein MTMR15 3
  • Fanconi Anemia Associated Nuclease 1 3
  • Myotubularin Related Protein 15 2
  • Fanconi-Associated Nuclease 1 3
  • EC 3.1.21.- 4
  • EC 3.1.4.1 4

External Ids for FAN1 Gene

Previous HGNC Symbols for FAN1 Gene

  • KIAA1018
  • MTMR15

Previous GeneCards Identifiers for FAN1 Gene

  • GC15P031197
  • GC15P008373

Summaries for FAN1 Gene

Entrez Gene Summary for FAN1 Gene

  • This gene encodes a member of the myotubularin-related class 1 cysteine-based protein tyrosine phosphatases. The encoded protein may be catalytically inactive. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2009]

GeneCards Summary for FAN1 Gene

FAN1 (FANCD2/FANCI-Associated Nuclease 1) is a Protein Coding gene. Diseases associated with FAN1 include interstitial nephritis, karyomegalic and chronic kidney failure. Among its related pathways are Fanconi anemia pathway (KEGG). GO annotations related to this gene include magnesium ion binding and 5-3 exonuclease activity.

UniProtKB/Swiss-Prot for FAN1 Gene

  • 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 recombination, probably in the resolution of homologous recombination intermediates (PubMed:20603015, PubMed:20603016, PubMed:20603073, PubMed:20671156, PubMed:24981866, PubMed:25430771). Not involved in DNA double-strand breaks resection (PubMed:20603015, PubMed:20603016). Acts as a 5-3 exonuclease that anchors at a cut end of DNA and cleaves DNA successively at every third nucleotide, allowing to excise an ICL from one strand through flanking incisions. Probably keeps excising with 3-flap annealing until it reaches and unhooks the ICL (PubMed:25430771). Acts at sites that have a 5-terminal phosphate anchor at a nick or a 1- or 2-nucleotide flap and is augmented by a 3 flap (PubMed:25430771). Also has endonuclease activity toward 5-flaps (PubMed:20603015, PubMed:20603016, PubMed:24981866).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAN1 Gene

Genomics for FAN1 Gene

Genomic Location for FAN1 Gene

Start:
30,832,893 bp from pter
End:
30,943,108 bp from pter
Size:
110,216 bases
Orientation:
Plus strand

Genomic View for FAN1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FAN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAN1 Gene

No data available for Regulatory Elements for FAN1 Gene

Proteins for FAN1 Gene

  • Protein details for FAN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2M0-FAN1_HUMAN
    Recommended name:
    Fanconi-associated nuclease 1
    Protein Accession:
    Q9Y2M0
    Secondary Accessions:
    • A8K4M2
    • Q86WU8

    Protein attributes for FAN1 Gene

    Size:
    1017 amino acids
    Molecular mass:
    114225 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Note=Binds 2 magnesium or manganese ions per subunit.;
    Quaternary structure:
    • Interacts with FANCD2 (when monoubiquitinated). Interacts with FANCI, MLH1, MLH3 and PMS2.
    SequenceCaution:
    • Sequence=AAH47882.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA76862.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FAN1 Gene

    Alternative splice isoforms for FAN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAN1 Gene

Proteomics data for FAN1 Gene at MOPED

Post-translational modifications for FAN1 Gene

  • Ubiquitinated and degraded during mitotic exit by the APC/C-Cdh1 complex.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FAN1 Gene

Domains for FAN1 Gene

Protein Domains for FAN1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for FAN1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y2M0

UniProtKB/Swiss-Prot:

FAN1_HUMAN :
  • Q9Y2M0
Domain:
  • The UBZ-type zinc finger specifically binds monoubiquitinated FANCD2.
  • The KEN box and D-box are required for interaction with FZR1/CDH1 and essential for APC(CDH1)-mediated ubiquitination.
  • Contains 1 VRR-NUC domain.
Family:
  • Belongs to the FAN1 family.
Similarity:
  • Contains 1 UBZ-type zinc finger.
genes like me logo Genes that share domains with FAN1: view

No data available for Gene Families for FAN1 Gene

Function for FAN1 Gene

Molecular function for FAN1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: Hydrolytically removes 5-nucleotides successively from the 3-hydroxy termini of 3-hydroxy-terminated oligonucleotides.
UniProtKB/Swiss-Prot 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 recombination, probably in the resolution of homologous recombination intermediates (PubMed:20603015, PubMed:20603016, PubMed:20603073, PubMed:20671156, PubMed:24981866, PubMed:25430771). Not involved in DNA double-strand breaks resection (PubMed:20603015, PubMed:20603016). Acts as a 5-3 exonuclease that anchors at a cut end of DNA and cleaves DNA successively at every third nucleotide, allowing to excise an ICL from one strand through flanking incisions. Probably keeps excising with 3-flap annealing until it reaches and unhooks the ICL (PubMed:25430771). Acts at sites that have a 5-terminal phosphate anchor at a nick or a 1- or 2-nucleotide flap and is augmented by a 3 flap (PubMed:25430771). Also has endonuclease activity toward 5-flaps (PubMed:20603015, PubMed:20603016, PubMed:24981866).

Enzyme Numbers (IUBMB) for FAN1 Gene

Gene Ontology (GO) - Molecular Function for FAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding TAS 20603016
GO:0003677 DNA binding --
GO:0004528 phosphodiesterase I activity IEA --
GO:0005515 protein binding IPI 20603015
GO:0008409 5-3 exonuclease activity IDA 20603015
genes like me logo Genes that share ontologies with FAN1: view

miRNA for FAN1 Gene

miRTarBase miRNAs that target FAN1

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for FAN1 Gene

Localization for FAN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAN1 Gene

Nucleus. Note=Localizes at sites of DNA damage following recruitment by monoubiquitinated FANCD2 (PubMed:20603015, PubMed:20603016). Localizes to stalled replication forks via its UBZ-type zinc finger (PubMed:20935496). {ECO:0000269 PubMed:20603015, ECO:0000269 PubMed:20603016, ECO:0000269 PubMed:20935496}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAN1 Gene COMPARTMENTS Subcellular localization image for FAN1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for FAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 20603015
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0045171 intercellular bridge IDA --
genes like me logo Genes that share ontologies with FAN1: view

Pathways for FAN1 Gene

SuperPathways for FAN1 Gene

Superpath Contained pathways
1 Fanconi anemia pathway (KEGG)
genes like me logo Genes that share pathways with FAN1: view

Pathways by source for FAN1 Gene

1 KEGG pathway for FAN1 Gene

Gene Ontology (GO) - Biological Process for FAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination IMP 20603015
GO:0000737 DNA catabolic process, endonucleolytic --
GO:0006281 DNA repair IMP 20603073
GO:0006289 nucleotide-excision repair IMP 20603016
GO:0033683 nucleotide-excision repair, DNA incision IMP 20603016
genes like me logo Genes that share ontologies with FAN1: view

Transcripts for FAN1 Gene

Unigene Clusters for FAN1 Gene

FANCD2/FANCI-associated nuclease 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FAN1 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13
SP1:
SP2:
SP3:
SP4: -
SP5:
SP6:

Relevant External Links for FAN1 Gene

GeneLoc Exon Structure for
FAN1
ECgene alternative splicing isoforms for
FAN1

Expression for FAN1 Gene

mRNA expression in normal human tissues for FAN1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for FAN1 Gene

SOURCE GeneReport for Unigene cluster for FAN1 Gene Hs.584863

genes like me logo Genes that share expressions with FAN1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for FAN1 Gene

Orthologs for FAN1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for FAN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAN1 35
  • 99.34 (n)
  • 99.02 (a)
FAN1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FAN1 35
  • 77.84 (n)
  • 72.5 (a)
FAN1 36
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAN1 35
  • 84.78 (n)
  • 79.63 (a)
FAN1 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fan1 35
  • 78.82 (n)
  • 73.21 (a)
Fan1 16
Fan1 36
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 59 (a)
OneToMany
-- 36
  • 39 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia FAN1 36
  • 58 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fan1 35
  • 78.45 (n)
  • 72.1 (a)
chicken
(Gallus gallus)
Aves FAN1 35
  • 62.39 (n)
  • 57.84 (a)
FAN1 36
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAN1 36
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fan1 35
  • 59.28 (n)
  • 55.59 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12709 35
zebrafish
(Danio rerio)
Actinopterygii fan1 35
  • 56.59 (n)
  • 51.8 (a)
fan1 36
  • 47 (a)
OneToOne
wufd06a07 35
worm
(Caenorhabditis elegans)
Secernentea fan-1 35
  • 43.36 (n)
  • 32.82 (a)
fan-1 36
  • 27 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU03036 35
  • 43.49 (n)
  • 32.57 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC146.06c 35
  • 41.82 (n)
  • 30.25 (a)
Species with no ortholog for FAN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FAN1 Gene

ENSEMBL:
Gene Tree for FAN1 (if available)
TreeFam:
Gene Tree for FAN1 (if available)

Paralogs for FAN1 Gene

No data available for Paralogs for FAN1 Gene

Variants for FAN1 Gene

Sequence variations from dbSNP and Humsavar for FAN1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs3122 -- 30,878,087(-) aagat(A/T)acatt intron-variant
rs711223 -- 30,835,513(+) ctaac(A/G)cagtg intron-variant
rs711224 -- 30,835,718(+) GGAAG(C/G)CTTTG intron-variant
rs739831 -- 30,835,351(+) GCTTT(C/T)GTAGT intron-variant
rs757341 -- 30,831,580(+) TCAAG(C/T)GATTC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for FAN1 Gene

Variant ID Type Subtype PubMed ID
nsv525795 CNV Gain 19592680
nsv903831 CNV Gain 21882294
nsv832951 CNV Loss 17160897
nsv521842 CNV Gain 19592680
nsv903834 CNV Gain 21882294
esv33507 CNV Loss 17666407
nsv832952 CNV Gain+Loss 17160897

Relevant External Links for FAN1 Gene

HapMap Linkage Disequilibrium report
FAN1
Human Gene Mutation Database (HGMD)
FAN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAN1 Gene

Disorders for FAN1 Gene

(1) OMIM Diseases for FAN1 Gene (613534)

UniProtKB/Swiss-Prot

FAN1_HUMAN
  • Interstitial nephritis, karyomegalic (KMIN) [MIM:614817]: 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. {ECO:0000269 PubMed:22772369}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Schizophrenia and autism. Schizophrenia is a severe psychiatric disorder characterized by positive, negative, and cognitive symptoms, and it is associated with increased mortality and severely reduced fecundity. Autim is a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation.Disease susceptibility may be associated with variations affecting the gene represented in this entry. {ECO:0000269 PubMed:24344280}.

(1) University of Copenhagen DISEASES for FAN1 Gene

genes like me logo Genes that share disorders with FAN1: view

Publications for FAN1 Gene

  1. Identification of KIAA1018/FAN1, a DNA repair nuclease recruited to DNA damage by monoubiquitinated FANCD2. (PMID: 20603015) MacKay C. … Rouse J. (Cell 2010) 2 3 4
  2. Deficiency of FANCD2-associated nuclease KIAA1018/FAN1 sensitizes cells to interstrand crosslinking agents. (PMID: 20603016) Kratz K. … Jiricny J. (Cell 2010) 2 3 4
  3. A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease necessary for DNA interstrand crosslink repair. (PMID: 20603073) Smogorzewska A. … Elledge S.J. (Mol. Cell 2010) 2 3 4
  4. FAN1 acts with FANCI-FANCD2 to promote DNA interstrand cross-link repair. (PMID: 20671156) Liu T. … Huang J. (Science 2010) 3 4
  5. Human KIAA1018/FAN1 localizes to stalled replication forks via its ubiquitin-binding domain. (PMID: 20935496) Shereda R.D. … Machida Y.J. (Cell Cycle 2010) 3 4

Products for FAN1 Gene

Sources for FAN1 Gene

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