Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



FAN1 Gene

protein-coding   GIFtS: 54
GCID: GC15P031197

FANCD2/FANCI-Associated Nuclease 1

(Previous names: KIAA1018, myotubularin related protein 15)
(Previous symbols: KIAA1018, MTMR15)
  See FAN1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
FANCD2/FANCI-Associated Nuclease 11 2 3     Coiled-Coil Domain-Containing Protein MTMR152
KIAA10181 2 3 5     Fanconi Anemia Associated Nuclease 12
MTMR151 2 3 5     Fanconi-Associated Nuclease 12
Myotubularin-Related Protein 152 3     EC 3.1.21.-3
KMIN2 5     EC 3.1.4.13
Myotubularin Related Protein 151     

External Ids:    HGNC: 291701   Entrez Gene: 229092   Ensembl: ENSG000001986907   OMIM: 6135345   UniProtKB: Q9Y2M03   

Export aliases for FAN1 gene to outside databases

Previous GC identifer: GC15P008373


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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, and chronic kidney failure. GO annotations related to this gene include 5'-3' exonuclease activity and magnesium ion binding.

UniProtKB/Swiss-Prot: FAN1_HUMAN, Q9Y2M0
Function: Nuclease required for maintenance of chromosomal stability. Plays a key role in DNA repair of DNA
interstrand cross-links (ICL) by being recruited to sites of DNA damage by monoubiquitinated FANCD2. Specifically
involved in repair of ICL-induced DNA breaks by being required for efficient homologous recombination, possibly
in the resolution of homologous recombination intermediates. Not involved in DNA double-strand breaks resection.
Has both endonuclease activity toward 5'-flaps and 5'-exonuclease activity: may act in concert with the
3'-flap-specific enzymes to unhook the ICL by cleaving the lagging-strand template




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NT_010194.18  NT_187660.1  NC_018926.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for FAN1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAN1 promoter sequence
   Search Chromatin IP Primers for FAN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q13.2-q13.3   Ensembl cytogenetic band:  15q13.2   HGNC cytogenetic band: 15q13.2-q13.3

FAN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAN1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P031197:  view genomic region     (about GC identifiers)

Start:
31,196,055 bp from pter      End:
31,235,311 bp from pter
Size:
39,257 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: FAN1_HUMAN, Q9Y2M0 (See protein sequence)
Recommended Name: Fanconi-associated nuclease 1  
Size: 1017 amino acids; 114225 Da
Cofactor: Divalent metal cations. Mg(2+) is the most probable
Subunit: Interacts with FANCD2 (when monoubiquitinated). Interacts with FANCI, MLH1, MLH3 and PMS2
Sequence caution: Sequence=AAH47882.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAA76862.3; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A8K4M2 Q86WU8
Alternative splicing: 2 isoforms:  Q9Y2M0-1   Q9Y2M0-2   

Explore the universe of human proteins at neXtProt for FAN1: NX_Q9Y2M0

Explore proteomics data for FAN1 at MOPED

Post-translational modifications: 

  • Ubiquitinated and degraded during mitotic exit by the APC/C-Cdh1 complex1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FAN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001139566.1  NP_001139567.1  NP_001139568.1  NP_055782.3  

    ENSEMBL proteins: 
     ENSP00000455983   ENSP00000354497   ENSP00000454223   ENSP00000454544   ENSP00000455573  
     ENSP00000457680  

    FAN1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for FAN1
    GenScript Custom Purified and Recombinant Proteins Services for FAN1
    Novus Biologicals FAN1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FAN1

     
    Search eBioscience for Proteins for FAN1 

    FAN1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for FAN1
    Novus Biologicals FAN1 Antibodies
    Abcam antibodies for FAN1
    Cloud-Clone Corp. Antibodies for FAN1
    ThermoFisher Antibodies for FAN1
    LSBio Antibodies in human, mouse, rat for FAN1

    FAN1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for FAN1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for FAN1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for FAN1
    Cloud-Clone Corp. CLIAs for FAN1
    Search eBioscience for ELISAs for FAN1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    2 InterPro protein domains:
     IPR006642 Znf_Rad18_put
     IPR014883 VRR_NUC

    Graphical View of Domain Structure for InterPro Entry Q9Y2M0

    ProtoNet protein and cluster: Q9Y2M0

    1 Blocks protein domain: IPB006642 Zn-finger Rad18

    UniProtKB/Swiss-Prot: FAN1_HUMAN, Q9Y2M0
    Domain: The UBZ-type zinc finger specifically binds monoubiquitinated FANCD2
    Domain: The KEN box and D-box are required for interaction with FZR1/CDH1 and essential for APC(CDH1)-mediated
    ubiquitination
    Similarity: Belongs to the FAN1 family
    Similarity: Contains 1 UBZ-type zinc finger
    Similarity: Contains 1 VRR-NUC domain


    Find genes that share domains with FAN1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FAN1_HUMAN, Q9Y2M0
    Function: Nuclease required for maintenance of chromosomal stability. Plays a key role in DNA repair of DNA
    interstrand cross-links (ICL) by being recruited to sites of DNA damage by monoubiquitinated FANCD2. Specifically
    involved in repair of ICL-induced DNA breaks by being required for efficient homologous recombination, possibly
    in the resolution of homologous recombination intermediates. Not involved in DNA double-strand breaks resection.
    Has both endonuclease activity toward 5'-flaps and 5'-exonuclease activity: may act in concert with the
    3'-flap-specific enzymes to unhook the ICL by cleaving the lagging-strand template
    Catalytic activity: Hydrolytically removes 5'-nucleotides successively from the 3'-hydroxy termini of
    3'-hydroxy-terminated oligonucleotides

         Enzyme Numbers (IUBMB): EC 3.1.4.11 EC 3.1.21.-1

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding TAS--
    GO:0003677DNA binding IEA--
    GO:0004528phosphodiesterase I activity IEA--
    GO:0005515protein binding IPI--
    GO:00084095'-3' exonuclease activity IDA--
         
    Find genes that share ontologies with FAN1           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Fan1 (no phenotypes)

    Find genes that share phenotypes with FAN1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FAN1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FAN1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FAN1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FAN1

    miRNA
    Products:
        
    miRTarBase miRNAs that target FAN1:
    hsa-mir-940 (MIRT036619)

    Block miRNA regulation of human, mouse, rat FAN1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate FAN1:
    hsa-miR-589* hsa-miR-216b hsa-miR-507 hsa-miR-450b-5p
    SwitchGear 3'UTR luciferase reporter plasmidFAN1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for FAN1
    Predesigned siRNA for gene silencing in human, mouse, rat FAN1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for FAN1

    Clone
    Products:
         
    OriGene clones in human, mouse for FAN1 (see all 22)
    OriGene ORF clones in mouse, rat for FAN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): FAN1 (NM_014967)
    Sino Biological Human cDNA Clone for FAN1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAN1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for FAN1
    Browse ESI BIO Cell Lines and PureStem Progenitors for FAN1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAN1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    FAN1_HUMAN, Q9Y2M0: Nucleus. Note=Localizes at sites of DNA damage following recruitment by monoubiquitinated
    FANCD2
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--

    Find genes that share ontologies with FAN1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for FAN1 About    
    See pathways by source

    SuperPathContained pathways About
    1Fanconi anemia pathway (KEGG)
    Fanconi anemia pathway


    Find genes that share SuperPaths with FAN1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1 Kegg Pathway  (Kegg details for FAN1):
        Fanconi anemia pathway

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FAN1
    Interactions:

        Search GeneGlobe Interaction Network for FAN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    Selected Interacting proteins for FAN1 (Q9Y2M03 ENSP000003544974) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FANCGO152873, ENSP000003679104I2D: score=1 STRING: ENSP00000367910
    FSCN1Q166583, ENSP000003717984I2D: score=1 STRING: ENSP00000371798
    KPNB1Q149743, ENSP000002901584I2D: score=1 STRING: ENSP00000290158
    MLH1P406923, ENSP000002317904I2D: score=1 STRING: ENSP00000231790
    PCNAP120043, ENSP000003684384I2D: score=1 STRING: ENSP00000368438
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000724double-strand break repair via homologous recombination IMP--
    GO:0000737DNA catabolic process, endonucleolytic IDA--
    GO:0006281DNA repair IMP--
    GO:0006289nucleotide-excision repair IMP--
    GO:0033683nucleotide-excision repair, DNA incision IMP--

    Find genes that share ontologies with FAN1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FAN1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for FAN1 gene (4 alternative transcripts): 
    NM_001146094.1  NM_001146095.1  NM_001146096.1  NM_014967.4  

    Unigene Cluster for FAN1:

    FANCD2/FANCI-associated nuclease 1
    Hs.584863  [show with all ESTs]
    Unigene Representative Sequence: CR936727
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000561594(uc001zfc.3 uc010azw.2 uc001zfd.3) ENST00000362065(uc001zff.3)
    ENST00000561607 ENST00000565466 ENST00000565280(uc001zfe.3) ENST00000562892
    ENST00000568145 ENST00000562881
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat FAN1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate FAN1:
    hsa-miR-589* hsa-miR-216b hsa-miR-507 hsa-miR-450b-5p
    SwitchGear 3'UTR luciferase reporter plasmidFAN1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for FAN1
    Predesigned siRNA for gene silencing in human, mouse, rat FAN1
    Clone
    Products:
         
    OriGene clones in human, mouse for FAN1 (see all 22)
    OriGene ORF clones in mouse, rat for FAN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): FAN1 (NM_014967)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAN1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for FAN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FAN1
      QuantiTect SYBR Green Assays in human, mouse, rat FAN1
      QuantiFast Probe-based Assays in human, mouse, rat FAN1

    Additional mRNA sequence: 

    AB023235.2 AK290987.1 BC044890.1 BC047882.1 BX647391.1 CR936727.1 CR936734.1 HM560957.1 

    11 DOTS entries:

    DT.215209  DT.99992948  DT.99943434  DT.97792107  DT.423290  DT.75192767  DT.100787266  DT.91755075 
    DT.121027730  DT.75172392  DT.75100939 

    Selected AceView cDNA sequences (see all 142):

    AL528776 AA383430 AA323109 CK905207 BM689473 BM313858 CB157853 AI453577 
    AA369778 AI859495 AL708291 AA923587 BC044890 BE873144 CB161773 CB164601 
    AI985586 BQ945686 CD644036 CB156850 CR596971 BU176942 AW025426 AI865679 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for FAN1 (see all 6)    About this scheme

    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:                                                                                                                  


    ECgene alternative splicing isoforms for FAN1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    FAN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTACATCAC
    FAN1 Expression
    About this image

    FAN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FAN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.584863
        Custom PCR Arrays for FAN1
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for FAN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FAN1
    QuantiTect SYBR Green Assays in human, mouse, rat FAN1
    QuantiFast Probe-based Assays in human, mouse, rat FAN1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAN1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for FAN1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fan11 , 5 FANCD2/FANCI-associated nuclease 11, 5 78.82(n)1
    73.21(a)1
      7 (34.64 cM)5
    3305541  NM_177893.31  NP_808561.21 
     643467585 
    chicken
    (Gallus gallus)
    Aves FAN11 FANCD2/FANCI-associated nuclease 1 62.39(n)
    57.84(a)
      415383  XM_004943760.1  XP_004943817.1 
    lizard
    (Anolis carolinensis)
    Reptilia FAN16
    FANCD2/FANCI-associated nuclease 1
    49(a)
    1 ↔ 1
    GL343428.1(33217-46795)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia 1377295312   -- 73.51(n)    137729531 
    zebrafish
    (Danio rerio)
    Actinopterygii wufd06a072 Transcribed sequence with weak similarity to protein more 70.78(n)    57054874 
    worm
    (Caenorhabditis elegans)
    Secernentea fan-11 fan-1 43.36(n)
    32.82(a)
      177415  NM_068596.4  NP_500997.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for FAN1 (see all 1066)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0689604
    Interstitial nephritis, karyomegalic (KMIN)4--see VAR_0689602 G D mis40--------
    VAR_0689584
    Interstitial nephritis, karyomegalic (KMIN)4--see VAR_0689582 C R mis40--------
    VAR_0689594
    Interstitial nephritis, karyomegalic (KMIN)4--see VAR_0689592 Q P mis40--------
    VAR_0689614
    Interstitial nephritis, karyomegalic (KMIN)4--see VAR_0689612 D N mis40--------
    rs355053501,2
    C--8404885(+) GGGACT/-TTGAG 1 -- int12Minor allele frequency- -:0.25NA 4
    rs1889771931,2
    --11234116(+) ACCACA/GACCAG 4 -- us2k10--------
    rs1175777511,2
    C,F--11234125(+) AGCCCC/TAAGCT 4 -- us2k11Minor allele frequency- T:0.09NA 120
    rs1464277131,2
    --11234229(+) AAATCC/TATACA 4 -- us2k10--------
    rs1812273991,2
    --11234451(+) TTTACA/GGAACA 4 -- us2k10--------
    rs1410746121,2
    --11234480(+) CTCCAC/TGGTCT 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for FAN1 (31196055 - 31235311 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for FAN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832951CNV Loss17160897
    esv33507CNV Loss17666407
    nsv521842CNV Gain19592680
    nsv903834CNV Gain21882294
    nsv525795CNV Gain19592680
    nsv903831CNV Gain21882294
    nsv832952CNV Gain+Loss17160897

    Human Gene Mutation Database (HGMD): FAN1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FAN1
    DNA2.0 Custom Variant and Variant Library Synthesis for FAN1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 613534   
    OMIM disorders: 614817  
    UniProtKB/Swiss-Prot: FAN1_HUMAN, Q9Y2M0
  • 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. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 4 diseases for FAN1:    
    About MalaCards
    interstitial nephritis    chronic kidney failure    karyomegalic interstitial nephritis    nephritis

    1 disease from the University of Copenhagen DISEASES database for FAN1:
    Aplastic anemia

    Find genes that share disorders with FAN1           About GenesLikeMe


    Export disorders for FAN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for FAN1 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with FAN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease necessary for DNA interstrand crosslink repair. (PubMed id 20603073)1, 2, 3 Smogorzewska A....Elledge S.J. (Mol. Cell 2010)
    2. Identification of KIAA1018/FAN1, a DNA repair nuclease recruited to DNA damage by monoubiquitinated FANCD2. (PubMed id 20603015)1, 2, 3 MacKay C.... Rouse J. (Cell 2010)
    3. Deficiency of FANCD2-associated nuclease KIAA1018/FAN1 sensitizes cells to interstrand crosslinking agents. (PubMed id 20603016)1, 2, 3 Kratz K.... Jiricny J. (Cell 2010)
    4. FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair. (PubMed id 22772369)1, 2 Zhou W....Hildebrandt F. (Nat. Genet. 2012)
    5. Human KIAA1018/FAN1 nuclease is a new mitotic substrate of APC/C(Cdh1). (PubMed id 22854063)1, 2 Lai F.... Kang T. (Ai Zheng 2012)
    6. FAN1 acts with FANCI-FANCD2 to promote DNA interstrand cross-link repair. (PubMed id 20671156)1, 2 Liu T.... Huang J. (Science 2010)
    7. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)1, 2 Nagase T.... Ohara O. (DNA Res. 1999)
    8. Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism. (PubMed id 24344280)1 Ionita-Laza I....Karayiorgou M. (Proc. Natl. Acad. Sci. U.S.A. 2014)
    9. Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. (PubMed id 23505323)1 Weissglas-Volkov D....Pajukanta P. (J. Med. Genet. 2013)
    10. On the role of FAN1 in Fanconi anemia. (PubMed id 22611161)1 Trujillo J.P....SurrallAcs J. (Blood 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 22909 HGNC: 29170 AceView: KIAA1018 Ensembl:ENSG00000198690 euGenes: HUgn22909
    ECgene: FAN1 Kegg: 22909 H-InvDB: FAN1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA1018

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for FAN1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for FAN1 gene:
    Search GeneIP for patents involving FAN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for FAN1  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for FAN1  
     OriGene qSTAR qPCR primer pairs in human, mouse for FAN1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for FAN1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for FAN1   OriGene Custom Protein Services for FAN1  

     
     
     Block miRNA regulation of human, mouse, rat FAN1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing FAN1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAN1 Predesigned siRNA for gene silencing in human, mouse, rat FAN1
     QuantiFast Probe-based Assays in human, mouse, rat FAN1 QuantiTect SYBR Green Assays in human, mouse, rat FAN1
     Custom PCR Arrays for FAN1 Search Chromatin IP Primers for FAN1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FAN1  Search GeneGlobe Interaction Network for FAN1
     Search Regulatory tfbs for FAN1
     GenScript Custom Purified and Recombinant Proteins Services for FAN1 GenScript cDNA clones with any tag delivered in your preferred vector for FAN1
     GenScript Custom Assay Services for FAN1 GenScript Custom overexpressing Cell Line Services for FAN1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for FAN1
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for FAN1
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     FAN1 antibodies
     FAN1 lysates
     Antibodies for FAN1
     See all of Abcam's Antibodies, Kits and Proteins for FAN1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for FAN1
     Antibodies for FAN1
     ELISAs for FAN1
     CLIAs for FAN1



     Browse ESI BIO Cell Lines and PureStem Progenitors for FAN1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAN1
     SwitchGear 3'UTR luciferase reporter plasmids for FAN1
     SwitchGear Promoter luciferase reporter plasmids for FAN1
     ThermoFisher Antibodies for FAN1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAN1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FAN1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FAN1
     LSBio Antibodies in human, mouse, rat for FAN1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for FAN1
      Search eBioscience for proteins for FAN1
      Search eBioscience for elisas for FAN1
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      FAN1 gene at Home site.
    Version: 3.12.224 13 Oct 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4