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Aliases for FHIT Gene

Aliases for FHIT Gene

  • Fragile Histidine Triad 2 3 5
  • Diadenosine 5,5-P1,P3-Triphosphate Hydrolase 3 4
  • Dinucleosidetriphosphatase 3 4
  • AP3A Hydrolase 3 4
  • AP3Aase 3 4
  • Fragile Histidine Triad Protein 4
  • Fragile Histidine Triad Gene 2
  • EC 3.6.1.29 4
  • FRA3B 3

External Ids for FHIT Gene

Previous GeneCards Identifiers for FHIT Gene

  • GC03M058591
  • GC03M059076
  • GC03M059592
  • GC03U900473
  • GC03M059692

Summaries for FHIT Gene

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 hereditary clear cell renal cell carcinoma and lung cancer. Among its related pathways are Glioma and Pyrimidine metabolism (KEGG). GO annotations related to this gene include identical protein binding and hydrolase activity.

UniProtKB/Swiss-Prot for FHIT Gene

  • 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, it may in part come from the mitochondrial form, which sensitizes the low-affinity Ca(2+) transporters, enhancing mitochondrial calcium uptake. Functions as tumor suppressor.

Gene Wiki entry for FHIT Gene

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

Genomics for FHIT Gene

Regulatory Elements for FHIT Gene

Enhancers for FHIT Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FHIT on UCSC Golden Path with GeneCards custom track

Promoters for FHIT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FHIT on UCSC Golden Path with GeneCards custom track

Genomic Location for FHIT Gene

Chromosome:
3
Start:
59,747,587 bp from pter
End:
61,251,459 bp from pter
Size:
1,503,873 bases
Orientation:
Minus strand

Genomic View for FHIT Gene

Genes around FHIT on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for FHIT Gene

Proteins for FHIT Gene

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

    Protein Symbol:
    P49789-FHIT_HUMAN
    Recommended name:
    Bis(5-adenosyl)-triphosphatase
    Protein Accession:
    P49789
    Secondary Accessions:
    • A2IAS9
    • A2IAT0
    • A2IAT6
    • A8K1A9
    • Q45QG9
    • Q6IU12

    Protein attributes for FHIT Gene

    Size:
    147 amino acids
    Molecular mass:
    16858 Da
    Quaternary structure:
    • Homodimer. Interacts with UBE2I. Interacts with MDM2. Interacts with CTNNB1. Identified in a complex with CTNNB1 and LEF1.

    Three dimensional structures from OCA and Proteopedia for FHIT Gene

neXtProt entry for FHIT Gene

Proteomics data for FHIT Gene at MOPED

Post-translational modifications for FHIT Gene

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

Antibody Products

No data available for DME Specific Peptides for FHIT Gene

Domains & Families for FHIT Gene

Protein Domains for FHIT Gene

Graphical View of Domain Structure for InterPro Entry

P49789

UniProtKB/Swiss-Prot:

FHIT_HUMAN :
  • Contains 1 HIT domain.
Domain:
  • Contains 1 HIT domain.
genes like me logo Genes that share domains with FHIT: view

No data available for Gene Families for FHIT Gene

Function for FHIT Gene

Molecular function for FHIT Gene

GENATLAS Biochemistry:
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)
UniProtKB/Swiss-Prot CatalyticActivity:
P(1)-P(3)-bis(5-adenosyl) triphosphate + H(2)O = ADP + AMP.
UniProtKB/Swiss-Prot 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, it may in part come from the mitochondrial form, which sensitizes the low-affinity Ca(2+) transporters, enhancing mitochondrial calcium uptake. Functions as tumor suppressor.

Enzyme Numbers (IUBMB) for FHIT Gene

Gene Ontology (GO) - Molecular Function for FHIT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016787 hydrolase activity IDA 8794732
GO:0042802 identical protein binding IPI 9261067
GO:0047710 bis(5-adenosyl)-triphosphatase activity IDA 8794732
genes like me logo Genes that share ontologies with FHIT: view
genes like me logo Genes that share phenotypes with FHIT: view

Human Phenotype Ontology for FHIT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FHIT Gene

MGI Knock Outs for FHIT:

Animal Model Products

miRNA for FHIT Gene

No data available for Transcription Factor Targets and HOMER Transcription for FHIT Gene

Localization for FHIT Gene

Subcellular locations from UniProtKB/Swiss-Prot for FHIT Gene

Cytoplasm. Mitochondrion. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FHIT Gene COMPARTMENTS Subcellular localization image for FHIT gene
Compartment Confidence
cytosol 5
extracellular 5
mitochondrion 5
nucleus 5
plasma membrane 2

Gene Ontology (GO) - Cellular Components for FHIT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 15007172
genes like me logo Genes that share ontologies with FHIT: view

Pathways & Interactions for FHIT Gene

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

Pathways by source for FHIT Gene

SIGNOR curated interactions for FHIT Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for FHIT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006163 purine nucleotide metabolic process IDA 9323207
GO:0009117 nucleotide metabolic process TAS 8794732
genes like me logo Genes that share ontologies with FHIT: view

Drugs & Compounds for FHIT Gene

(24) Drugs for FHIT Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Interferon beta-1a Approved, Investigational Pharma 195
Interferon beta-1b Approved Pharma 82
Adenosine monophosphate Approved Nutra 0
Adenosine Monotungstate Experimental Pharma Target 0
Ado-P-Ch2-P-Ps-Ado Experimental Pharma Target 0

(26) Additional Compounds for FHIT Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
diadenosine triphosphate
  • Adenosine (5')triphospho(5')adenosine
  • Adenosine 5'-triphosphate 5'-adenosine
  • Adenosine(3)triphosphate adenosine
  • Adenosine(5')triphospho(5')adenosine
  • Bis(Adenosine)-5'-triphosphate
56432-02-1
cadmium
  • Cadmium atom
  • Cadmium elemental
  • Cadmium metallicum
  • Cd
  • Colloidal cadmium
7440-43-9
Ganglioside GM3 (d18:1/24:0)
  • (N-Acetylneuraminyl)-D-galactosyl-D-glucosylceramide
  • (N-Acetylneuraminyl)-delta-galactosyl-delta-glucosylceramide
  • alpha-N-Acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-D-glucosylceramide
  • alpha-N-Acetylneuraminyl-2,3-beta-delta-galactosyl-1,4-beta-delta-glucosylceramide
  • Ganglioside GM3
54827-14-4
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with FHIT: view

Transcripts for FHIT Gene

mRNA/cDNA for FHIT Gene

Unigene Clusters for FHIT Gene

Fragile histidine triad:
Representative Sequences:

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

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

Relevant External Links for FHIT Gene

GeneLoc Exon Structure for
FHIT
ECgene alternative splicing isoforms for
FHIT

Expression for FHIT Gene

mRNA expression in normal human tissues for FHIT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FHIT Gene

This gene is overexpressed in Salivary gland (10.8) and Skin (6.6).

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



SOURCE GeneReport for Unigene cluster for FHIT Gene Hs.655995

mRNA Expression by UniProt/SwissProt for FHIT Gene

P49789-FHIT_HUMAN
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.
genes like me logo Genes that share expression patterns with FHIT: view

Protein tissue co-expression partners for FHIT Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for FHIT Gene

Orthologs for FHIT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FHIT Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FHIT 35
  • 87.07 (n)
  • 90.48 (a)
FHIT 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FHIT 35
  • 90.25 (n)
  • 92.52 (a)
FHIT 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fhit 35
  • 87.07 (n)
  • 91.16 (a)
Fhit 16
Fhit 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FHIT 35
  • 98.64 (n)
  • 98.64 (a)
FHIT 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fhit 35
  • 84.58 (n)
  • 88.44 (a)
oppossum
(Monodelphis domestica)
Mammalia FHIT 36
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FHIT 36
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves FHIT 35
  • 75.63 (n)
  • 79.31 (a)
FHIT 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FHIT 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fhit 35
  • 68.95 (n)
  • 76.03 (a)
zebrafish
(Danio rerio)
Actinopterygii fhit 35
  • 69.89 (n)
  • 77.93 (a)
fhit 36
  • 75 (a)
OneToMany
fhit 36
  • 75 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL053C 35
  • 49.87 (n)
  • 47.2 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C10142g 35
  • 49.86 (n)
  • 46.09 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HNT2 35
  • 48.56 (n)
  • 40.52 (a)
HNT2 36
  • 23 (a)
OneToOne
HNT2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons FHIT 35
  • 58.74 (n)
  • 54.1 (a)
rice
(Oryza sativa)
Liliopsida Os11g0120600 35
  • 56.21 (n)
  • 49.15 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes aph1 35
  • 51.07 (n)
  • 52.29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 48 (a)
OneToOne
Species with no ortholog for FHIT:
  • 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FHIT Gene

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

Paralogs for FHIT Gene

No data available for Paralogs for FHIT Gene

Variants for FHIT Gene

Sequence variations from dbSNP and Humsavar for FHIT Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1665 -- 61,008,911(+) TGTGT(C/G)TGTGC intron-variant
rs2383 -- 60,274,040(+) TTTGA(C/G)TTCTA intron-variant
rs49411 -- 59,771,849(-) CTTTG(A/G)TCAGA intron-variant
rs49413 -- 59,771,758(+) TTCTC(A/G)TCATA intron-variant
rs51549 -- 60,530,122(+) CATAG(C/T)ATGGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834706 CNV Gain 17160897
esv2725321 CNV Deletion 23290073
esv2725322 CNV Deletion 23290073
nsv3842 CNV Insertion 18451855
nsv460563 CNV Gain 19166990
esv2725323 CNV Deletion 23290073
esv2725324 CNV Deletion 23290073
esv995728 CNV Deletion 20482838
esv2725325 CNV Deletion 23290073
esv1998826 CNV Deletion 18987734
esv1004832 CNV Deletion 20482838
nsv876837 CNV Gain 21882294
nsv460564 CNV Loss 19166990
nsv460565 CNV Loss 19166990
nsv470616 CNV Loss 18288195
esv274562 CNV Insertion 20981092
esv271327 CNV Insertion 20981092
esv9455 CNV Gain 19470904
esv271811 CNV Insertion 20981092
nsv507096 CNV Insertion 20534489
esv2677166 CNV Deletion 23128226
nsv876838 CNV Gain 21882294
esv2659079 CNV Deletion 23128226
nsv528597 CNV Loss 19592680
esv1665801 CNV Insertion 17803354
esv1142763 CNV Insertion 17803354
esv267690 CNV Insertion 20981092
nsv834707 CNV Gain 17160897
nsv876839 CNV Loss 21882294
esv22405 CNV Loss 19812545
dgv287n21 CNV Loss 19592680
nsv519729 CNV Loss 19592680
dgv178e55 CNV Loss 17911159
nsv519855 CNV Loss 19592680
nsv876840 CNV Loss 21882294
esv2666531 CNV Deletion 23128226
esv2725326 CNV Deletion 23290073
nsv834708 CNV Loss 17160897
dgv5145n71 CNV Loss 21882294
esv2422232 CNV Deletion 17116639
nsv876842 CNV Loss 21882294
esv2725327 CNV Deletion 23290073
esv2622202 CNV Deletion 19546169
dgv5146n71 CNV Loss 21882294
esv260046 OTHER Complex 20981092
nsv517248 CNV Loss 19592680
nsv519353 CNV Loss 19592680
nsv3844 CNV Insertion 18451855
dgv5147n71 CNV Loss 21882294
dgv5148n71 CNV Loss 21882294
nsv520224 CNV Loss 19592680
nsv460569 CNV Gain 19166990
dgv5149n71 CNV Loss 21882294
nsv460570 CNV Loss 19166990
nsv876853 CNV Loss 21882294
nsv526066 CNV Loss 19592680
nsv522508 CNV Loss 19592680
nsv876854 CNV Loss 21882294
nsv524767 CNV Loss 19592680
nsv876855 CNV Loss 21882294
esv2510521 CNV Insertion 19546169
esv275190 CNV Gain+Loss 21479260
dgv5150n71 CNV Loss 21882294
esv2672128 CNV Deletion 23128226
esv270720 CNV Insertion 20981092
nsv876858 CNV Loss 21882294
nsv834709 CNV Gain 17160897
nsv876859 CNV Loss 21882294
nsv876860 CNV Gain 21882294
nsv507097 CNV Insertion 20534489
esv2485847 CNV Insertion 19546169
nsv460573 CNV Loss 19166990
nsv876861 CNV Loss 21882294
nsv876862 CNV Loss 21882294
nsv520671 CNV Loss 19592680
nsv3845 CNV Insertion 18451855
nsv876863 CNV Loss 21882294
dgv1459e1 CNV Complex 17122850
nsv518490 CNV Loss 19592680
nsv3846 CNV Loss 18451855
esv2659090 CNV Deletion 23128226
dgv1460e1 CNV Complex 17122850
esv561 CNV CNV 17122850
esv2662758 CNV Deletion 23128226
essv12872 CNV CNV 17122850
dgv1461e1 CNV Complex 17122850
esv2673174 CNV Deletion 23128226
nsv437724 CNV Loss 16327808
esv2665389 CNV Deletion 23128226
nsv437861 CNV Loss 16468122
nsv818143 CNV Loss 17921354
dgv179e55 CNV Loss 17911159
esv24503 CNV Loss 19812545
esv2662326 CNV Deletion 23128226
esv1753481 CNV Insertion 17803354
esv2725328 CNV Deletion 23290073
esv2671216 CNV Deletion 23128226
esv2725330 CNV Deletion 23290073
esv2725331 CNV Deletion 23290073
esv1172588 CNV Insertion 17803354
nsv876864 CNV Loss 21882294
esv2752012 CNV Gain 17911159
esv34680 CNV Loss 17911159
esv2676628 CNV Deletion 23128226
essv7665 CNV CNV 17122850
nsv834710 CNV Gain 17160897
nsv876865 CNV Gain 21882294
essv5509 CNV CNV 17122850
nsv460574 CNV Loss 19166990
nsv876866 CNV Gain 21882294
nsv876867 CNV Gain 21882294
esv268513 CNV Insertion 20981092
essv6074 CNV CNV 17122850
esv2658190 CNV Deletion 23128226
nsv10275 CNV Loss 18304495
esv2667468 CNV Deletion 23128226
esv25096 CNV Loss 19812545
nsv10276 CNV Gain 18304495
essv22719 CNV CNV 17122850
nsv876868 CNV Gain 21882294
esv2725332 CNV Deletion 23290073
nsv527725 CNV Loss 19592680

Variation tolerance for FHIT Gene

Residual Variation Intolerance Score: 52% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.38; 27.14% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FHIT Gene

HapMap Linkage Disequilibrium report
FHIT

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

Disorders for FHIT Gene

MalaCards: The human disease database

(19) MalaCards diseases for FHIT Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hereditary clear cell renal cell carcinoma
  • hereditary clear cell renal cell adenocarcinoma
lung cancer
  • lung cancer, protection against
kidney cancer
  • renal cell carcinoma
renal cell carcinoma
  • renal cell carcinoma, clear cell, somatic
hereditary conventional renal cell carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search FHIT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FHIT_HUMAN
  • 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. {ECO:0000269 PubMed:15007172}.
  • 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. {ECO:0000269 PubMed:15007172}.

Relevant External Links for FHIT

Genetic Association Database (GAD)
FHIT
Human Genome Epidemiology (HuGE) Navigator
FHIT
Tumor Gene Database (TGDB):
FHIT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FHIT
genes like me logo Genes that share disorders with FHIT: view

No data available for Genatlas for FHIT Gene

Publications for FHIT Gene

  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. (PMID: 8598045) Ohta M. … Huebner K. (Cell 1996) 2 3 4 67
  2. Nitrilase and Fhit homologs are encoded as fusion proteins in Drosophila melanogaster and Caenorhabditis elegans. (PMID: 9671749) Pekarsky Y. … Croce C.M. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 23
  3. Aberration of the enzymatic activity of Fhit tumor suppressor protein enhances cancer cell death upon photodynamic therapy similarly to that driven by wild-type Fhit. (PMID: 19286306) Ferens B. … Zawacka-Pankau J. (Cancer Lett. 2009) 3 23
  4. Immunohistochemical assessment of Fhit protein expression in advanced gastric carcinomas in correlation with Helicobacter pylori infection and survival time. (PMID: 19419937) Czyzewska J. … Bandurski R. (Folia Histochem. Cytobiol. 2009) 3 23
  5. Influence of DNA methyltransferase 3b on FHIT expression and DNA methylation of the FHIT promoter region in hepatoma SMMC-7721 cells. (PMID: 19502167) Wang J.X. … Zhao L.S. (HBPD INT 2009) 3 23

Products for FHIT Gene

Sources for FHIT Gene

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