Aliases for FHIT Gene
Aliases for FHIT Gene
External Ids for FHIT Gene
- HGNC: 3701
- Entrez Gene: 2272
- Ensembl: ENSG00000189283
- OMIM: 601153
- UniProtKB: P49789
Previous GeneCards Identifiers for FHIT Gene
- GC03M058591
- GC03M059076
- GC03M059592
- GC03U900473
- GC03M059692
Summaries for FHIT Gene
-
The protein encoded by this gene is a P1-P3-bis(5'-adenosyl) triphosphate hydrolase involved in purine metabolism. This gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. The encoded protein is also a tumor suppressor, as loss of its activity results in replication stress and DNA damage. [provided by RefSeq, Aug 2017]
GeneCards Summary for FHIT Gene
FHIT (Fragile Histidine Triad) is a Protein Coding gene. Diseases associated with FHIT include Renal Cell Carcinoma, Nonpapillary and Hereditary Renal Cell Carcinoma. Among its related pathways are Pyrimidine metabolism (KEGG) and Endometrial cancer. Gene Ontology (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.
Additional gene information for FHIT Gene
- Monarch Initiative
- Search for FHIT at DataMed
- Search for FHIT at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FHIT Gene
Genomics for FHIT Gene
GeneHancer (GH) Regulatory Elements for FHIT Gene
Promoters and enhancers for FHIT Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH03I061249 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE | 556.3 | -0.3 | -258 | 4.3 | HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 | FHIT LOC105377115 RPL10AP6 GC03P061398 | |
| GH03I061196 | Promoter | 0.6 | EPDnew | 550.2 | +55.4 | 55355 | 0.1 | CEBPB | FHIT GC03P061146 | |
| GH03I061008 | Enhancer | 0.7 | Ensembl ENCODE | 9.6 | +242.4 | 242391 | 0.9 | USF1 POLR2A MAX USF2 | FHIT LOC105377111 GC03M061082 | |
| GH03I062168 | Enhancer | 0.5 | ENCODE | 5.2 | -918.6 | -918564 | 2.4 | ZNF217 GATA3 JUN IKZF1 ATF7 EBF1 | RNU2-10P FHIT ID2B LOC105377116 PTPRG | |
| GH03I061140 | Enhancer | 0.3 | ENCODE | 5.1 | +109.9 | 109857 | 2 | EZH2 | FHIT GC03M061121 GC03P061146 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around FHIT on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the FHIT gene promoter:
Regulatory Element Products
Genomic Locations for FHIT Gene
Genomic Locations for FHIT Gene
- chr3:59,747,587-61,251,459
- (GRCh38/hg38)
- Size:
- 1,503,873 bases
- Orientation:
- Minus strand
- chr3:59,735,036-61,237,133
- (GRCh37/hg19)
Genomic View for FHIT Gene
Genes around FHIT on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3p14.2 by Ensembl
- 3p14.2 by Entrez Gene
- 3p14.2 by HGNC
FHIT Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for 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
- 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.
Protein Expression for FHIT Gene
Post-translational modifications for FHIT Gene
- Phosphorylation at Tyr-114 by SRC is required for induction of apoptosis.
Other Protein References for FHIT Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for FHIT
-
Abcam antibodies for FHIT
- Invitrogen Antibodies for FHIT
- GeneTex FHIT antibody for FHIT
-
Custom Antibody ServicesProSci Antibodies for FHIT
-
Santa Cruz Biotechnology (SCBT) Antibodies for FHIT
- Sino Biological Antibodies for FHIT
Protein Products
-
OriGene Purified Proteins for FHIT
- Search Origene for MassSpec and Protein Over-expression Lysates for FHIT
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- Sino Biological Recombinant Proteins for FHIT
- Browse Sino Biological Cell Lysates
- ProSpec Recombinant Proteins for FHIT
- GeneTex Proteins for FHIT
-
Abcam proteins for FHIT
Assay Products
- antibodies-online: Search results for 8 available FHIT Elisa Kits ranked by validation data
- Compare Top FHIT Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for FHIT Gene
Domains & Families for FHIT Gene
Gene Families for FHIT Gene
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for FHIT Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for FHIT Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot 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
Phenotypes From GWAS Catalog for FHIT Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0003824 | catalytic activity | TAS,IEA | 8598045 |
| GO:0005515 | protein binding | IPI | 18077326 |
| GO:0016787 | hydrolase activity | IDA,IEA | 8794732 |
| GO:0031625 | ubiquitin protein ligase binding | IPI | 15313915 |
Phenotypes for FHIT Gene
- MGI mutant phenotypes for FHIT:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for FHIT:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for FHIT
-
-
ViGene Biosciences lentiviral particle packaged cDNA for FHIT gene
-
ViGene Biosciences ready-to-package AAV shRNAs for FHIT gene
- Search ViGene Biosciences for FHIT
CRISPR Products
-
OriGene CRISPR knockouts for FHIT
- genomics-online: gRNA clones - Search results for 129 available FHIT gene related products
- Overview of 129 available FHIT gene related products
- Applied Biological Materials CRISPR for FHIT
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for FHIT
- GenScript: Design CRISPR guide RNA sequences for FHIT
miRNA for FHIT Gene
- miRTarBase miRNAs that target FHIT
miRNA Products
- Search ViGene Biosciences for FHIT
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for FHIT
- Browse OriGene Inhibitory RNA Products For FHIT
- genomics-online: shRNA clones - Search results for 129 available FHIT gene related products
- Overview of 129 available FHIT gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for FHIT gene
Clone Products
- Sino Biological Human cDNA Clone for FHIT
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for FHIT
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FHIT
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for FHIT
- Applied Biological Materials Clones for FHIT
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for FHIT
-
ViGene Biosciences adenoviral particle packaged cDNA for FHIT gene
-
ViGene Biosciences lentiviral particle packaged cDNA for FHIT gene
-
ViGene Biosciences ready-to-package AAV shRNAs for FHIT gene
No data available for Human Phenotype Ontology , 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| mitochondrion | 5 |
| nucleus | 5 |
| cytosol | 5 |
- Nucleoli fibrillar center (2)
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001650 | fibrillar center | IDA | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005737 | cytoplasm | IEA,IDA | 15007172 |
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005829 | cytosol | IDA | 15313915 |
Pathways & Interactions for FHIT Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Endometrial cancer | ||
| 2 | Pyrimidine metabolism (KEGG) | ||
| 3 | Small cell lung cancer | ||
Pathways by source for FHIT Gene
3 KEGG pathways for FHIT Gene
Interacting Proteins for FHIT Gene
Selected Interacting proteins:
ENSP00000342087
P49789-FHIT_HUMAN
for FHIT Gene via
STRING
IID
UniProtKB
SIGNOR curated interactions for FHIT Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006163 | purine nucleotide metabolic process | IDA | 9323207 |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0006915 | apoptotic process | IEA | -- |
| GO:0009117 | nucleotide metabolic process | TAS | 8794732 |
Drugs & Compounds for FHIT Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist | 58-64-0 | |||
| diadenosine triphosphate |
|
56432-02-1 | ||||
| cadmium |
|
7440-43-9 |
|
|||
| Ganglioside GM3 (d18:1/12:0) |
|
54827-14-4 |
|
Transcripts for FHIT Gene
mRNA/cDNA for FHIT Gene
- (14) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (13) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for FHIT Gene
CRISPR Products
-
OriGene CRISPR knockouts for FHIT
- genomics-online: gRNA clones - Search results for 129 available FHIT gene related products
- Overview of 129 available FHIT gene related products
- Applied Biological Materials CRISPR for FHIT
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for FHIT
- GenScript: Design CRISPR guide RNA sequences for FHIT
miRNA Products
- Search ViGene Biosciences for FHIT
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for FHIT
- Browse OriGene Inhibitory RNA Products For FHIT
- genomics-online: shRNA clones - Search results for 129 available FHIT gene related products
- Overview of 129 available FHIT gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for FHIT gene
Clone Products
- Sino Biological Human cDNA Clone for FHIT
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for FHIT
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FHIT
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for FHIT
- Applied Biological Materials Clones for FHIT
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · | 12b | · | 12c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||||
| SP4: | - | - | - | ||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||
| SP6: |
Expression for FHIT Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Skeletal Muscle (Muscoskeletal System)
-
Blood (Hematopoietic System)
- T Helper Cells Peripheral Blood
-
Liver (Hepatobiliary System)
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, MaxQB, and MOPED for FHIT Gene
NURSA nuclear receptor signaling pathways regulating expression of FHIT Gene:
FHITSOURCE GeneReport for Unigene cluster for FHIT Gene:
Hs.655995mRNA 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.
Evidence on tissue expression from TISSUES for FHIT Gene
- Intestine(4.4)
- Nervous system(4.3)
- Lung(2.7)
- Lymph node(2.5)
- Gall bladder(2.2)
- Kidney(2.1)
- Stomach(2.1)
- Thyroid gland(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for FHIT Gene
Germ Layers:
- mesoderm
Systems:
- urinary
Regions:
Abdomen:
- kidney
Primer Products
-
OriGene qPCR primer pairs for FHIT
-
OriGene qPCR primer pairs and template standards for FHIT
- genomics-online: primer clones - Search results for 129 available FHIT gene related products
- Overview of 129 available FHIT gene related 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FHIT 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | FHIT 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | FHIT 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Fhit 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fhit 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FHIT 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | FHIT 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FHIT 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FHIT 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | fhit 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | fhit 33 34 34 |
|
||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AAL053C 33 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C10142g 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | HNT2 33 34 36 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | FHIT 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os11g0120600 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | aph1 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- Species where no ortholog for FHIT was found in the sources mined by GeneCards:
-
- 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)
Paralogs for FHIT Gene
No data available for Paralogs for FHIT Gene
Variants for FHIT Gene
| SNP ID | Clin | Chr 03 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs11130760 | association, Lip and oral cavity carcinoma | 60,210,809(-) | G/T | genic_upstream_transcript_variant, intron_variant | |
| rs1000004344 | -- | 60,609,366(-) | C/A/T | genic_upstream_transcript_variant, intron_variant | |
| rs1000004594 | -- | 59,764,216(-) | T/A/C | intron_variant | |
| rs1000005439 | -- | 60,916,601(-) | A/C | genic_upstream_transcript_variant, intron_variant | |
| rs1000007023 | -- | 59,977,877(-) | T/C | intron_variant |
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)
Additional Variant Information for FHIT Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FHIT Gene
Disorders for FHIT Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| renal cell carcinoma, nonpapillary |
|
|
| hereditary renal cell carcinoma |
|
|
| megaesophagus |
|
|
| sporadic breast cancer |
|
|
| hereditary conventional renal cell carcinoma |
|
|
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}.
Additional Disease Information for FHIT
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Tumor Gene Database
- (TGDB)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for FHIT Gene
Publications for FHIT Gene
- The tumor suppressor Fhit acts as a repressor of beta-catenin transcriptional activity. (PMID: 18077326) Weiske J … Huber O (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 22 58
- Fhit modulation of the Akt-survivin pathway in lung cancer cells: Fhit-tyrosine 114 (Y114) is essential. (PMID: 16407838) Semba S … Huebner K (Oncogene 2006) 3 4 22 58
- Fhit is a physiological target of the protein kinase Src. (PMID: 15007172) Pekarsky Y … Croce CM (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 22 58
- The mechanism of action of the fragile histidine triad, Fhit: isolation of a covalent adenylyl enzyme and chemical rescue of H96G-Fhit. (PMID: 15182206) Huang K … Frey PA (Biochemistry 2004) 3 4 22 58
- Designed FHIT alleles establish that Fhit-induced apoptosis in cancer cells is limited by substrate binding. (PMID: 12574506) Trapasso F … Brenner C (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 4 22 58
Products for FHIT Gene
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- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for FHIT
- Sino Biological Human cDNA Clone for FHIT
- Sino Biological Recombinant Proteins for FHIT
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for FHIT
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for FHIT
- Novus Biologicals lysates and proteins for FHIT
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for FHIT
- Abcam proteins for FHIT
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- ProSpec Recombinant Proteins for FHIT
- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for FHIT
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Cyagen custom Knockout/knockin (KOKI) mouse models for FHIT
- VectorBuilder custom plasmid, inducible vectors for FHIT
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FHIT
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for FHIT
- antibodies-online: Search results for 136 available FHIT Antibodies ranked by validation data
- Compare Top FHIT Antibodies
- antibodies-online: Search results for 8 available FHIT Elisa Kits ranked by validation data
- Compare Top FHIT Elisa Kits
- Quality Products:
- antibodies-online: Search results for 37 available FHIT Proteins ranked by validation data
- Compare Top FHIT Proteins
- GeneTex FHIT antibody for FHIT
- GeneTex Proteins for FHIT
- ViGene Biosciences adenoviral particle packaged cDNA for FHIT gene
- ViGene Biosciences lentiviral particle packaged cDNA for FHIT gene
- ViGene Biosciences ready-to-package AAV shRNAs for FHIT gene
- Search ViGene Biosciences for FHIT
- Santa Cruz Biotechnology (SCBT) Antibodies for FHIT
- Search Santa Cruz Biotechnology (SCBT) for FHIT siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for FHIT
- Custom Antibody ServicesProSci Antibodies for FHIT
- Search for FHIT Proteins at ProSci
- Horizon Cell Lines for FHIT
- genomics-online: cdna clones - Search results for 129 available FHIT gene related products
- Overview of 129 available FHIT gene related products
- orf clones - Search results for 129 available FHIT gene related products
- Overview of 129 available FHIT gene related products
- genomics-online: gRNA clones - Search results for 129 available FHIT gene related products
- Overview of 129 available FHIT gene related products
- genomics-online: primer clones - Search results for 129 available FHIT gene related products
- Overview of 129 available FHIT gene related products
- genomics-online: shRNA clones - Search results for 129 available FHIT gene related products
- Overview of 129 available FHIT gene related products
Sources for FHIT Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew