Aliases for FAN1 Gene
Aliases for FAN1 Gene
External Ids for FAN1 Gene
- HGNC: 29170
- Entrez Gene: 22909
- Ensembl: ENSG00000198690
- OMIM: 613534
- UniProtKB: Q9Y2M0
Previous HGNC Symbols for FAN1 Gene
- KIAA1018
- MTMR15
Previous GeneCards Identifiers for FAN1 Gene
- GC15P031197
- GC15P008373
- GC15P030833
- GC15P030911
Summaries 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
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around FAN1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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:
-
- 15q13.3 by Ensembl
- 15q13.3 by Entrez Gene
- 15q13.3 by HGNC
FAN1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression 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
Other Protein References for FAN1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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Protein Products
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Assay Products
- antibodies-online Kits for FAN1: See all 2
No data available for DME Specific Peptides for FAN1 Gene
Domains & Families for FAN1 Gene
Protein Domains for FAN1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for FAN1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9Y2M0UniProtKB/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.
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
| 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 | -- |
Phenotypes for FAN1 Gene
- GenomeRNAi human phenotypes for FAN1:
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miRNA for FAN1 Gene
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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}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| extracellular | 4 |
| 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 | -- |
Pathways & Interactions for FAN1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Fanconi anemia pathway | ||
| 2 | DNA Double-Strand Break Repair |
.53
|
|
Pathways by source for FAN1 Gene
2 Reactome pathways for FAN1 Gene
1 KEGG pathway for FAN1 Gene
Interacting Proteins 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 |
No data available for SIGNOR curated interactions for FAN1 Gene
Transcripts for FAN1 Gene
mRNA/cDNA for FAN1 Gene
- (12) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (142) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for FAN1 Gene
CRISPR Products
-
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-
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Flow Cytometry Products
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 |
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| SP4: | - | ||||||||||||||||||||||||||||||||||||
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| SP6: |
Expression 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:
FAN1SOURCE GeneReport for Unigene cluster for FAN1 Gene:
Hs.584863Evidence 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
Primer Products
-
OriGene qPCR primer pairs for FAN1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FAN1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | FAN1 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Fan1 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fan1 34 |
|
||
| cow (Bos Taurus) |
Mammalia | FAN1 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| platypus (Ornithorhynchus anatinus) |
Mammalia | FAN1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FAN1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FAN1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | fan1 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | fan1 34 35 |
|
||
| wufd06a07 34 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.12709 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | fan-1 34 35 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU03036 34 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPBC146.06c 34 |
|
- 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)
Paralogs for FAN1 Gene
No data available for Paralogs for FAN1 Gene
Variants 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 |
| 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAN1 Gene
Disorders for FAN1 Gene
(8) MalaCards diseases for FAN1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| interstitial nephritis, karyomegalic |
|
|
| interstitial nephritis |
|
|
| hemopneumothorax |
|
|
| corneal ectasia |
|
|
| chromosome 15q13.3 microdeletion syndrome |
|
|
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
No data available for Genatlas for FAN1 Gene
Publications for FAN1 Gene
- 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
- 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
- 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
- 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
- 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
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- Search ViGene Biosciences for FAN1
- Horizon Cell Lines for FAN1
- Cyagen custom Knockout/knockin (KOKI) mouse models for FAN1
- VectorBuilder custom plasmid, inducible vectors for FAN1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FAN1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for FAN1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
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- (26) UniGene
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- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
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- (115) ProteomicsDB
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- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
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- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer