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FHIT Gene

protein-coding   GIFtS: 68
GCID: GC03M059712

Fragile Histidine Triad

(Previous name: fragile histidine triad gene)
  See FHIT-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)
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Aliases
Fragile Histidine Triad1 2     bis(5'-adenosyl)-triphosphatase2
Diadenosine 5',5'''-P1,P3-Triphosphate Hydrolase2 3     dinucleosidetriphosphatase2
AP3Aase2 3     Tumor Suppressor Protein2
AP3A Hydrolase2 3     Dinucleosidetriphosphatase3
FRA3B2 5     EC 3.6.1.293
Fragile Histidine Triad Gene1     Fragile Histidine Triad Protein3

External Ids:    HGNC: 37011   Entrez Gene: 22722   Ensembl: ENSG000001892837   OMIM: 6011535   UniProtKB: P497893   

Export aliases for FHIT gene to outside databases

Previous GC identifers: GC03M058591 GC03M059076 GC03M059592 GC03U900473 GC03M059692


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FHIT Gene:
This gene, a member of the histidine triad gene family, encodes a diadenosine 5',5'''-P1,P3-triphosphate hydrolase
involved in purine metabolism. The gene encompasses the common fragile site FRA3B on chromosome 3, where
carcinogen-induced damage can lead to translocations and aberrant transcripts of this gene. In fact, aberrant
transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas.
Alternatively spliced transcript variants have been found for this gene. (provided by RefSeq, Oct 2009)

GeneCards Summary for FHIT Gene:
FHIT (fragile histidine triad) is a protein-coding gene. Diseases associated with FHIT include familial renal cell carcinoma, and epidural abscess. GO annotations related to this gene include identical protein binding and ubiquitin protein ligase binding.

UniProtKB/Swiss-Prot: FHIT_HUMAN, P49789
Function: Cleaves P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A) to yield AMP and ADP. Can also hydrolyze
P(1)-P(4)-bis(5'-adenosyl) tetraphosphate (Ap4A), but has extremely low activity with ATP. Modulates
transcriptional activation by CTNNB1 and thereby contributes to regulate the expression of genes essential for
cell proliferation and survival, such as CCND1 and BIRC5. Plays a role in the induction of apoptosis via SRC and
AKT1 signaling pathways. Inhibits MDM2-mediated proteasomal degradation of p53/TP53 and thereby plays a role in
p53/TP53-mediated apoptosis. Induction of apoptosis depends on the ability of FHIT to bind
P(1)-P(3)-bis(5'-adenosyl) triphosphate or related compounds, but does not require its catalytic activity.
Functions as tumor suppressor

Gene Wiki entry for FHIT Gene


(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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FHIT gene promoter:
         c-Fos   Sp1   AP-1   ATF-2   c-Jun   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): FHIT promoter sequence
   Search Chromatin IP Primers for FHIT

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


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

Entrez Gene cytogenetic band: 3p14.2   Ensembl cytogenetic band:  3p14.2   HGNC cytogenetic band: 3p14.2

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M059712:  view genomic region     (about GC identifiers)

Start:
59,735,036 bp from pter      End:
61,237,133 bp from pter
Size:
1,502,098 bases      Orientation:
minus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: FHIT_HUMAN, P49789 (See protein sequence)
Recommended Name: Bis(5'-adenosyl)-triphosphatase  
Size: 147 amino acids; 16858 Da
Cofactor: Divalent cations. Magnesium, but manganese and to a lesser extent calcium or cobalt can be substituted;
but not zinc, cadmium or nickel
Subunit: Homodimer. Interacts with UBE2I. Interacts with MDM2. Interacts with CTNNB1. Identified in a complex with
CTNNB1 and LEF1
Mass spectrometry: Mass=16733; Method=MALDI; Range=2-147; Source=PubMed:15007172;
Selected PDB 3D structures from and Proteopedia for FHIT (see all 8):
1FHI (3D)        1FIT (3D)        2FHI (3D)        2FIT (3D)        3FIT (3D)        4FIT (3D)    
Secondary accessions: Q6IU12

Explore the universe of human proteins at neXtProt for FHIT: NX_P49789

Explore proteomics data for FHIT at MOPED

Post-translational modifications: 

  • Phosphorylation at Tyr-114 by SRC is required for induction of apoptosis1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001159715.1  NP_002003.1  

    ENSEMBL proteins: 
     ENSP00000417557   ENSP00000418582   ENSP00000417480   ENSP00000418596   ENSP00000342087  

    FHIT Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for FHIT
    OriGene MassSpec for FHIT
    OriGene Custom Protein Services for FHIT
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    Novus Biologicals FHIT Proteins
    Novus Biologicals FHIT Lysates
    Sino Biological Recombinant Protein for FHIT
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for FHIT
    Cloud-Clone Corp. Proteins for FHIT

     
    Search eBioscience for Proteins for FHIT 

     
    antibodies-online proteins for FHIT (34 products) 

     
    antibodies-online peptides for FHIT

    FHIT Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of FHIT
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    Abcam antibodies for FHIT
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    LSBio Antibodies in human, mouse, rat for FHIT
    antibodies-online antibodies for FHIT (100 products) 

    FHIT Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for FHIT
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    antibodies-online kits for FHIT 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR001310 Histidine_triad_HIT
     IPR019808 Histidine_triad_CS
     IPR011146 HIT-like

    Graphical View of Domain Structure for InterPro Entry P49789

    ProtoNet protein and cluster: P49789

    1 Blocks protein domain: IPB001310 Histidine triad (HIT) protein

    UniProtKB/Swiss-Prot: FHIT_HUMAN, P49789
    Similarity: Contains 1 HIT domain


    Find genes that share domains with FHIT           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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FHIT_HUMAN, P49789
    Function: Cleaves P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A) to yield AMP and ADP. Can also hydrolyze
    P(1)-P(4)-bis(5'-adenosyl) tetraphosphate (Ap4A), but has extremely low activity with ATP. Modulates
    transcriptional activation by CTNNB1 and thereby contributes to regulate the expression of genes essential for
    cell proliferation and survival, such as CCND1 and BIRC5. Plays a role in the induction of apoptosis via SRC and
    AKT1 signaling pathways. Inhibits MDM2-mediated proteasomal degradation of p53/TP53 and thereby plays a role in
    p53/TP53-mediated apoptosis. Induction of apoptosis depends on the ability of FHIT to bind
    P(1)-P(3)-bis(5'-adenosyl) triphosphate or related compounds, but does not require its catalytic activity.
    Functions as tumor suppressor
    Catalytic activity: P(1)-P(3)-bis(5'-adenosyl) triphosphate + H(2)O = ADP + AMP

         Genatlas biochemistry entry for FHIT:
    fragile histidine triad gene member of a superfamily HIT of nucleotide binding proteins,dinucleoside 5',5''' -
    P1,P3 - triphosphate Ap3A hydrolase,producing multiple transcripts in normal cell lines,non tumor
    specific,telomeric to PTPRG,encompassing the t(3;8) breakpoint in RCC1 and FRA3B,commonly but inconstantly
    involved in deletions in cancer cell-lines and in lung,pancreatic (RER+),stomach,kidney,cervical carcinomas and
    sporadic breast cancer of poor prognosis or in an advanced stage,maybe a tumor suppressor gene in relation to
    induction of apoptosis and cell cycle alteration and by interacting with microtubules and tubulin (see TSG3C)

         Enzyme Number (IUBMB): EC 3.6.1.291

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003824catalytic activity TAS8598045
    GO:0005515protein binding IPI18319262
    GO:0016787hydrolase activity IDA8794732
    GO:0031625ubiquitin protein ligase binding IPI15313915
         
    Find genes that share ontologies with FHIT           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for FHIT:
     Increased G1 DNA content  Increased circadian rhythm amp 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Fhit):
     digestive/alimentary  hematopoietic system  homeostasis/metabolism  immune system  integument 
     mortality/aging  tumorigenesis 

    Find genes that share phenotypes with FHIT           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Fhittm1Tko for FHIT

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

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

    miRNA
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    miRTarBase miRNAs that target FHIT:
    hsa-mir-217 (MIRT006363), hsa-mir-625-5p (MIRT006365), hsa-mir-143-3p (MIRT006362), hsa-mir-331-3p (MIRT006364)

    Block miRNA regulation of human, mouse, rat FHIT using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate FHIT
    SwitchGear 3'UTR luciferase reporter plasmidFHIT 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FHIT

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for FHIT
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    GenScript: all cDNA clones in your preferred vector (see all 2): FHIT (NM_002012)
    Sino Biological Human cDNA Clone for FHIT
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FHIT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FHIT
    Addgene plasmids for FHIT 

    Cell Line
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FHIT

    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-13771) for FHIT 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FHIT_HUMAN, P49789: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    mitochondrion2
    nucleus2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA15007172
    GO:0005829cytosol IDA15313915
    GO:0043231intracellular membrane-bounded organelle ----

    Find genes that share ontologies with FHIT           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).
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    SuperPaths for FHIT About    
    See pathways by source

    SuperPathContained pathways About
    1Glioma
    Non-small cell lung cancer0.51
    2Purine metabolism (KEGG)
    Purine metabolism0.38
    3Small cell lung cancer
    Small cell lung cancer


    Find genes that share SuperPaths with FHIT           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    3 Kegg Pathways  (Kegg details for FHIT):
        Purine metabolism
    Small cell lung cancer
    Non-small cell lung cancer

        Pathway & Disease-focused RT2 Profiler PCR Arrays including FHIT: 
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              Lung Cancer in human mouse rat
              Lymphoma in human mouse rat
              Liver Cancer in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for FHIT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for FHIT (P497891, 2, 3 ENSP000003420874) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPD1P108091, 3, ENSP000003400194EBI-741760,EBI-352528 I2D: score=2 STRING: ENSP00000340019
    HSPE1P616041, 3, ENSP000002338934EBI-741760,EBI-711483 I2D: score=1 STRING: ENSP00000233893
    FHITP497891, 2EBI-741760,EBI-741760 MINT-66194
    FDXRP225701, 3, ENSP000002931954EBI-741760,EBI-1751533 I2D: score=2 STRING: ENSP00000293195
    UBE2IP632793, ENSP000003248974I2D: score=3 STRING: ENSP00000324897
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006163purine nucleotide metabolic process IDA9323207
    GO:0006260DNA replication IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0009117nucleotide metabolic process TAS8794732

    Find genes that share ontologies with FHIT           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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FHIT

    Selected HMDB Compounds for FHIT (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    CadmiumCd (see all 6)7440-43-9--
    CalciumCa (see all 2)7440-70-2--
    CobaltCo (see all 6)7440-48-4--
    Diadenosine triphosphateadenosine(5')triphospho(5')adenosine (see all 9)56432-02-1--
    Ganglioside GM3 (d18:1/25:0)(N-Acetylneuraminyl)-D-galactosyl-D-glucosylceramide (see all 13)54827-14-4--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--
    NickelCarbonyl nickel powder (see all 19)7440-02-0--

    3 DrugBank Compounds for FHIT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine Monotungstate-- --target--17139284 17016423
    Ado-P-Ch2-P-Ps-Ado-- --target--17139284 17016423
    Fructose-- --target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for FHIT gene (see all 37)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    diadenosine triphosphate 92.4 40 9576908 (4), 9543008 (4), 11896678 (1), 16547961 (1) (see all 20)
    diadenosine tetraphosphate 69.1 5 11586300 (1), 10811104 (1), 18006149 (1), 10497298 (1) (see all 5)
    5-aza-2'deoxycytidine 46.6 12 19728916 (5), 9699676 (1), 16357833 (1), 15026336 (1) (see all 5)
    nickel subsulfide 46 3 12678982 (2), 17044645 (1)
    aphidicolin 44.4 3 1862089 (2), 9169152 (1)
    crcs 44.3 4 11606365 (1), 12973852 (1)
    sodium bisulfite 27.9 1 17369979 (1)
    galactose-1-phosphate 27.3 5 10090754 (2), 9261067 (1), 15182206 (1)
    histidine 20.3 10 8794732 (2), 9391102 (1), 19502167 (1), 10090754 (1) (see all 6)
    protoporphyrin ix 20.3 7 16990010 (2), 17310323 (2), 19286306 (2), 19716840 (1)



    Find genes that share compounds with FHIT           About GenesLikeMe



    (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 )
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    REFSEQ mRNAs for FHIT gene (2 alternative transcripts): 
    NM_001166243.1  NM_002012.2  

    Unigene Cluster for FHIT:

    Fragile histidine triad
    Hs.655995  [show with all ESTs]
    Unigene Representative Sequence: AK127931
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000476844 ENST00000492590(uc003dkx.4 uc003dky.3) ENST00000466788(uc010hnn.1)
    ENST00000468189 ENST00000488467 ENST00000490952 ENST00000465330 ENST00000341848

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    Additional mRNA sequence: 

    AK127931.1 AK289824.1 BC032336.1 BC057223.1 DQ120721.1 U46922.1 

    15 DOTS entries:

    DT.451640  DT.92070447  DT.97795062  DT.101957680  DT.100684958  DT.75187299  DT.95293229  DT.97836690 
    DT.100815435  DT.100815436  DT.120886967  DT.120887004  DT.120887070  DT.40129253  DT.91967025 

    13 AceView cDNA sequences:

    AI275155 BX105615 AL699473 BG494853 CB996786 BG674126 AW299725 AW772653 
    BM007419 AI026665 NM_002012 U46922 R11128 

    GeneLoc Exon Structure

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

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


    ECgene alternative splicing isoforms for FHIT

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


    FHIT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     Blood (Hematopoietic System)
             T Helper Cells Peripheral Blood
     
     Liver (Hepatobiliary System)
    FHIT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FHIT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.655995

    UniProtKB/Swiss-Prot: FHIT_HUMAN, P49789
    Tissue specificity: Low levels expressed in all tissues tested. Phospho-FHIT observed in liver and kidney, but not
    in brain and lung. Phospho-FHIT undetected in all tested human tumor cell lines

        Pathway & Disease-focused RT2 Profiler PCR Arrays including FHIT: 
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              Lung Cancer in human mouse rat
              Lymphoma in human mouse rat
              Liver Cancer in human mouse rat

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    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for FHIT gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fhit1 , 5 fragile histidine triad gene1, 5 87.07(n)1
    91.16(a)1
      14 (5.61 cM)5
    141981  NM_010210.21  NP_034340.11 
     95500925 
    chicken
    (Gallus gallus)
    Aves FHIT1 fragile histidine triad 75.63(n)
    79.31(a)
      416071  NM_001277802.1  NP_001264731.1 
    lizard
    (Anolis carolinensis)
    Reptilia FHIT6
    fragile histidine triad
    76(a)
    1 ↔ 1
    2(185945692-186211580)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fhit1 fragile histidine triad 68.95(n)
    76.03(a)
      448702  NM_001006882.2  NP_001006883.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fhit1 fragile histidine triad gene 69.89(n)
    77.93(a)
      393713  NM_200740.1  NP_957034.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HNT2(YDR305C)4
    HNT21
    Dinucleoside triphosphate hydrolase; has similarity more4
    HNT21
    48.56(n)1
    40.52(a)1
      4(1073488-1072746)4
    8518991, 4  NP_010591.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons FHIT1 FHIT 58.74(n)
    54.1(a)
      835936  NM_125209.3  NP_200632.2 
    rice
    (Oryza sativa)
    Liliopsida Os11g01206001 Os11g0120600 56.21(n)
    49.15(a)
      4349630  NM_001072141.2  NP_001065609.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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)
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    Selected SNPs for FHIT (see all 39068)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1838355581,2
    C--59686444(+) TGCAAA/GACAGG 2 -- ds50010--------
    rs1489411101,2
    C--59686525(+) GCCCT-/ATCATCAT 2 -- cds10--------
    rs67859991,2
    C,F--59686562(+) GTGCAG/CTTTTG 2 -- ds50015Minor allele frequency- C:0.15NA WA CSA 244
    rs98660511,2
    C,F,H--59686569(+) TTTGCA/GGAGTG 2 -- ds500119Minor allele frequency- G:0.13NS EA NA WA CSA 1996
    rs1433776471,2
    C--59686574(+) AGAGTA/GAGCAC 2 -- ds50010--------
    rs1894720951,2
    --59686622(+) TTGCTC/GCTGAG 2 -- ds50010--------
    rs1467131821,2
    --59686724(+) TGCCCG/TATTTA 2 -- ds50010--------
    rs1925151621,2
    --59686772(+) ATAAAA/CATTCA 2 -- ds50010--------
    rs1488630221,2
    --59686790(+) GACATC/TTTTTT 2 -- ds50010--------
    rs1434872671,2
    C--59686922(+) GTTGCA/TGCAGA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for FHIT (59735036 - 59985036 bp, first 250kb of FHIT)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FHIT (see all 122):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2725324CNV Deletion23290073
    esv2665389CNV Deletion23128226
    esv2725331CNV Deletion23290073
    esv995728CNV Deletion20482838
    esv2725326CNV Deletion23290073
    esv2622202CNV Deletion19546169
    esv2725328CNV Deletion23290073
    esv2658190CNV Deletion23128226
    esv1004832CNV Deletion20482838
    esv2725322CNV Deletion23290073

    Site Specific Mutation Identification with PCR Assays
    2 Copy Number PCR Panels containing FHIT:
    Oncogenes & Tumor Suppressor Genes 384HC
    Kinases & Phosphatases
    SeqTarget long-range PCR primers for resequencing FHIT
    DNA2.0 Custom Variant and Variant Library Synthesis for FHIT

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601153    OMIM disorders: --

    UniProtKB/Swiss-Prot: FHIT_HUMAN, P49789
  • Note=A chromosomal aberration involving FHIT has been found in a lymphoblastoid cell line established
    from a family with renal cell carcinoma and thyroid carcinoma. Translocation t(3;8)(p14.2;q24.1) with RNF139.
    Although the 3p14.2 breakpoint has been shown to interrupt FHIT in its 5-prime non-coding region, it is unlikely
    that FHIT is causally related to renal or other malignancies
  • Note=Associated with digestive tract cancers. Numerous tumor types are found to have aberrant forms of
    FHIT protein due to deletions in a coding region of chromosome 3p14.2 including the fragile site locus FRA3B

  • 9 diseases for FHIT:    
    About MalaCards
    familial renal cell carcinoma    epidural abscess    chromosome 3p deletion    hereditary renal cell carcinoma
    muir-torre syndrome    cervical cancer    renal cell carcinoma    lung cancer
    breast cancer

    4 diseases from the University of Copenhagen DISEASES database for FHIT:
    Carcinoma     Lung cancer     Cervical cancer     Esophageal cancer

    Find genes that share disorders with FHIT           About GenesLikeMe

    Selected Novoseek inferred disease relationships for FHIT gene (see all 96)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fragile sites chromosome 87.1 11 17044645 (1), 19434452 (1), 9196019 (1), 16864578 (1) (see all 8)
    allelic loss 82.1 45 10375597 (3), 11169516 (3), 11731438 (2), 15047740 (2) (see all 30)
    tumors 72.4 936 16030101 (8), 12627509 (7), 16985034 (7), 15671544 (7) (see all 99)
    cancer 66.9 335 11712940 (5), 17457056 (4), 19434452 (4), 16237777 (4) (see all 99)
    carcinoma squamous cell 65.8 113 15231689 (8), 15757192 (4), 12753709 (4), 9699676 (3) (see all 52)
    cervical carcinoma 64.8 83 15573771 (8), 9354423 (6), 19471558 (6), 16078573 (4) (see all 26)
    cancer lung 64.8 203 17562266 (10), 11402444 (9), 12948402 (7), 16231322 (6) (see all 62)
    cervical cancer 63.6 112 15642192 (7), 17029211 (4), 16963412 (4), 11498789 (3) (see all 39)
    renal clear cell carcinoma 63.1 16 18378390 (4), 11920739 (2), 9679951 (2), 11390984 (1) (see all 8)
    microsatellite instability 62.6 12 15906520 (1), 11916557 (1), 16078573 (1), 16217683 (1) (see all 11)

    Genetic Association Database (GAD): FHIT
    Human Genome Epidemiology (HuGE) Navigator: FHIT (21 documents)
    Tumor Gene Database (TGDB): FHIT

    Export disorders for FHIT 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)
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    PubMed articles for FHIT gene, integrated from 10 sources (see all 696):
    (articles sorted by number of sources associating them with FHIT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The FHIT gene, spanning the chromosome 3p14.2 fragile site and renal carcinoma-associated t(3;8) breakpoint, is abnormal in digestive tract cancers. (PubMed id 8598045)1, 2, 3, 9 Ohta M.... Huebner K. (Cell 1996)
    2. Association of FHIT (fragile histidine triad), a candidate tumour suppressor gene, with the ubiquitin-conjugating enzyme hUBC9. (PubMed id 11085938)1, 2, 9 Shi Y.... Paterson M.C. (Biochem. J. 2000)
    3. Synergistic tumor suppression by coexpression of FHIT and p53 coincides with FHIT-mediated MDM2 inactivation and p53 stabilization in human non-small cell lung cancer cells. (PubMed id 15313915)1, 2, 9 Nishizaki M.... Ji L. (Cancer Res. 2004)
    4. Genetic, biochemical, and crystallographic characterization of Fhit- substrate complexes as the active signaling form of Fhit. (PubMed id 9576908)1, 2, 9 Pace H.C....Brenner C. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    5. Gene mutations in esophageal mucosa of chagas disease patients. (PubMed id 19414370)1, 4, 9 DA Silva Manoel-Caetano F....Silva A.E. (Anticancer Res. 2009)
    6. Fhit, a putative tumor suppressor in humans, is a dinucleoside 5',5''-P1,P3-triphosphate hydrolase. (PubMed id 8794732)1, 2, 9 Barnes L.D.... Huebner K. (Biochemistry 1996)
    7. [Mutation and abnormal expression of FHIT gene in hypopharyngeal carcinoma]. (PubMed id 19621594)1, 4, 9 Wu H....Lei D. (Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2009)
    8. Mutation analysis of the FHIT gene in bronchoscopic specimens from patients with suspected lung cancer. (PubMed id 19267103)1, 4, 9 Cecener G....Tolunay S. (Tumori 2008)
    9. Association between germline variation in the FHIT gene and prostate cancer in Caucasians and African Americans. (PubMed id 17548701)1, 4, 9 Levin A.M....Cooney K.A. (amp 2007)
    10. The tumor suppressor Fhit acts as a repressor of beta-catenin transcriptional activity. (PubMed id 18077326)1, 2, 9 Weiske J.... Huber O. (Proc. Natl. Acad. Sci. U.S.A. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 2272 HGNC: 3701 AceView: FHIT.1 Ensembl:ENSG00000189283 euGenes: HUgn2272
    ECgene: FHIT Kegg: 2272 H-InvDB: FHIT

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FHIT Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FHIT Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FHIT gene:
    Search GeneIP for patents involving FHIT

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



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