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Aliases for FAN1 Gene

Aliases for FAN1 Gene

  • FANCD2 And FANCI Associated Nuclease 1 2 3 5
  • FANCD2/FANCI-Associated Nuclease 1 2 3 4
  • KIAA1018 2 3 4
  • Myotubularin-Related Protein 15 3 4
  • MTMR15 3 4
  • HFAN1 3 4
  • 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
  • KMIN 3

External Ids for FAN1 Gene

Previous HGNC Symbols for FAN1 Gene

  • KIAA1018
  • MTMR15

Previous GeneCards Identifiers for FAN1 Gene

  • GC15P031197
  • GC15P008373
  • GC15P030833
  • GC15P030911

Summaries for FAN1 Gene

Entrez Gene Summary for FAN1 Gene

  • 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 encoding distinct isoforms have been described. [provided by RefSeq, Feb 2016]

GeneCards Summary for FAN1 Gene

FAN1 (FANCD2 And FANCI Associated Nuclease 1) is a Protein Coding gene. Diseases associated with FAN1 include Interstitial Nephritis, Karyomegalic and Interstitial Nephritis. Among its related pathways are Fanconi anemia pathway and DNA Double-Strand Break Repair. GO annotations related to this gene include magnesium ion binding and hydrolase activity, acting on ester bonds.

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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAN1 Gene

Genomics for FAN1 Gene

Regulatory Elements for FAN1 Gene

Enhancers for FAN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G030920 1.8 FANTOM5 Ensembl ENCODE dbSUPER 15.5 +19.0 19012 3.9 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 ZNF263 FAN1 MTMR10 RNU6-466P ENSG00000260382 ENSG00000215302 PIR44387 PIR52520
GH15G030936 0.8 dbSUPER 26.5 +33.0 32952 1.4 DRAP1 HDGF SAP130 BACH1 YBX1 ZIC2 GLIS2 POLR2A ZNF143 IKZF2 FAN1 HERC2P10 ENSG00000270015 ENSG00000260382 RNU6-466P
GH15G030941 1 dbSUPER 19 +39.2 39191 3.2 HDGF ZNF48 GLIS2 ZNF207 FOS TBX21 KAT8 SMARCA4 GLIS1 RCOR2 MTMR10 FAN1 ARHGAP11B ENSG00000260382 RNU6-466P ENSG00000270015
GH15G030930 0.7 dbSUPER 26.2 +26.6 26638 0.8 MAZ MAFG OSR2 ZNF316 MAFF JUND SMARCA4 EED FOS MAFK FAN1 MTMR10 ENSG00000270015 RNU6-466P
GH15G030828 0.7 Ensembl ENCODE 25.5 -75.4 -75438 0.4 PKNOX1 MNT TCF7L2 FAN1 LOC100629121 PIR38228
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAN1 on UCSC Golden Path with GeneCards custom track

Promoters for FAN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000074425 48 1401 HDGF HNRNPUL1 PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1

Genomic Location for FAN1 Gene

Chromosome:
15
Start:
30,903,852 bp from pter
End:
30,943,108 bp from pter
Size:
39,257 bases
Orientation:
Plus strand

Genomic View for FAN1 Gene

Genes around FAN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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;
    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

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 & Families for FAN1 Gene

Protein Domains for FAN1 Gene

Suggested Antigen Peptide Sequences for FAN1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y2M0

UniProtKB/Swiss-Prot:

FAN1_HUMAN :
  • The UBZ-type zinc finger specifically binds monoubiquitinated FANCD2.
  • Belongs to the FAN1 family.
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.
Family:
  • Belongs to the FAN1 family.
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 IEA --
GO:0004518 nuclease activity IEA --
GO:0004519 endonuclease activity IEA --
GO:0004527 exonuclease activity IEA --
genes like me logo Genes that share ontologies with FAN1: view
genes like me logo Genes that share phenotypes with FAN1: view

Human Phenotype Ontology for FAN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for FAN1 Gene

miRTarBase miRNAs that target FAN1

Inhibitory RNA Products

Clone Products

No data available for Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FAN1 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4

Gene Ontology (GO) - Cellular Components for FAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 20603015
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol IDA --
GO:0045171 intercellular bridge IDA --
genes like me logo Genes that share ontologies with FAN1: view

Pathways & Interactions for FAN1 Gene

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

Pathways by source for FAN1 Gene

2 Reactome pathways 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:0006281 DNA repair IEA,IMP 20603073
GO:0006289 nucleotide-excision repair IMP 20603016
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0033683 nucleotide-excision repair, DNA incision IMP 20603016
genes like me logo Genes that share ontologies with FAN1: view

No data available for SIGNOR curated interactions for FAN1 Gene

Drugs & Compounds for FAN1 Gene

No Compound Related Data Available

Transcripts for FAN1 Gene

Unigene Clusters for FAN1 Gene

FANCD2/FANCI-associated nuclease 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for FAN1 Gene

Protein differential expression in normal tissues from HIPED for FAN1 Gene

This gene is overexpressed in Prostate (35.0), Breast (18.8), and Kidney (11.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FAN1 Gene



NURSA nuclear receptor signaling pathways regulating expression of FAN1 Gene:

FAN1

SOURCE GeneReport for Unigene cluster for FAN1 Gene:

Hs.584863

Evidence on tissue expression from TISSUES for FAN1 Gene

  • Nervous system(4.4)
  • Lung(4.2)
  • Eye(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FAN1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • urinary
Organs:
Abdomen:
  • kidney
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
genes like me logo Genes that share expression patterns with FAN1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners 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 34 35
  • 99.34 (n)
dog
(Canis familiaris)
Mammalia FAN1 34 35
  • 84.78 (n)
mouse
(Mus musculus)
Mammalia Fan1 34 16 35
  • 78.82 (n)
rat
(Rattus norvegicus)
Mammalia Fan1 34
  • 78.45 (n)
cow
(Bos Taurus)
Mammalia FAN1 34 35
  • 77.84 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 59 (a)
OneToMany
-- 35
  • 39 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia FAN1 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAN1 34 35
  • 62.39 (n)
lizard
(Anolis carolinensis)
Reptilia FAN1 35
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fan1 34
  • 59.28 (n)
zebrafish
(Danio rerio)
Actinopterygii fan1 34 35
  • 56.59 (n)
wufd06a07 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12709 34
worm
(Caenorhabditis elegans)
Secernentea fan-1 34 35
  • 43.36 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03036 34
  • 43.49 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC146.06c 34
  • 41.82 (n)
Species where no ortholog for FAN1 was found in the sources mined by GeneCards:
  • 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
rs751703979 Interstitial nephritis, karyomegalic (KMIN) [MIM:614817] 30,930,633(+) TCCCC(A/G)ACCTG intron-variant, nc-transcript-variant, reference, missense
VAR_068958 Interstitial nephritis, karyomegalic (KMIN) [MIM:614817]
VAR_068959 Interstitial nephritis, karyomegalic (KMIN) [MIM:614817]
VAR_068960 Interstitial nephritis, karyomegalic (KMIN) [MIM:614817]
rs387907279 Pathogenic 30,925,199(+) ATCAG(C/G/T)GAGCC intron-variant, nc-transcript-variant, reference, missense, stop-gained

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

Variant ID Type Subtype PubMed ID
esv33507 CNV loss 17666407
esv3569376 CNV gain 25503493
esv3636036 CNV gain 21293372
esv3892649 CNV loss 25118596
nsv1046874 CNV gain 25217958
nsv1115980 CNV insertion 24896259
nsv1116063 CNV deletion 24896259
nsv521842 CNV gain 19592680
nsv525795 CNV gain 19592680
nsv832951 CNV loss 17160897
nsv832952 CNV gain+loss 17160897

Variation tolerance for FAN1 Gene

Residual Variation Intolerance Score: 83.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.90; 59.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAN1 Gene

Human Gene Mutation Database (HGMD)
FAN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAN1

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

Disorders for FAN1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for FAN1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
interstitial nephritis, karyomegalic
  • karyomegalic interstitial nephritis
interstitial nephritis
  • renal tubulo-interstitial disease
hemopneumothorax
corneal ectasia
chromosome 15q13.3 microdeletion syndrome
  • chromosome 15q13.3 deletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search FAN1 in MalaCards View complete list of genes associated with diseases

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}.

Relevant External Links for FAN1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAN1
genes like me logo Genes that share disorders with FAN1: view

No data available for Genatlas for FAN1 Gene

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 64
  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 64
  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 64
  4. Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism. (PMID: 24344280) Ionita-Laza I. … Karayiorgou M. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3 4 64
  5. FAN1 activity on asymmetric repair intermediates is mediated by an atypical monomeric virus-type replication-repair nuclease domain. (PMID: 24981866) Pennell S. … Smerdon S.J. (Cell Rep. 2014) 3 4 64

Products for FAN1 Gene

Sources for FAN1 Gene

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