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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]
FHIT (Fragile Histidine Triad Diadenosine Triphosphatase) is a Protein Coding gene. Diseases associated with FHIT include Renal Cell Carcinoma, Nonpapillary and Sporadic Breast Cancer. Among its related pathways are Small cell lung cancer and Metabolism. Gene Ontology (GO) annotations related to this gene include identical protein binding and hydrolase activity. An important paralog of this gene is HINT1.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH03J061249 | Promoter/Enhancer | 2.2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 606.2 | -0.3 | -256 | 4.3 | SP1 HNRNPL CREB1 GATAD2A PRDM10 TFE3 ZNF512 RFX1 SIX5 IKZF1 | FHIT lnc-PTPRG-1 lnc-FEZF2-9 RPL10AP6 piR-61240-174 PTPRG | |
GH03J061196 | Promoter | 0.4 | EPDnew | 600.2 | +55.4 | 55357 | 0.1 | CEBPB | FHIT piR-58308-208 lnc-FEZF2-9 RF00017-4031 | |
GH03J061221 | Enhancer | 0.4 | Ensembl | 16.3 | +29.3 | 29260 | 1.2 | POLR2A SP1 HNF4A RXRA | FHIT piR-58308-209 lnc-FEZF2-9 | |
GH03J061008 | Enhancer | 0.6 | Ensembl ENCODE | 9.6 | +243.0 | 242960 | 3 | USF1 SPI1 POLR2A MAX USF2 RAD51 | FHIT LOC105377111 piR-38352-374 lnc-FEZF2-9 | |
GH03J060756 | Enhancer | 0.7 | Ensembl ENCODE | 9.3 | +492.3 | 492260 | 6 | MNT RUNX3 SPI1 ZNF366 POLR2A MAX POU5F1 | FHIT piR-61808-002 PPIAP71 lnc-FEZF2-9 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003824 | catalytic activity | IEA,TAS | 8598045 |
GO:0005515 | protein binding | IPI | 18077326 |
GO:0016787 | hydrolase activity | IEA,IDA | 8794732 |
GO:0031625 | ubiquitin protein ligase binding | IPI | 15313915 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001650 | fibrillar center | IDA | -- |
GO:0005634 | nucleus | IEA,IBA | 21873635 |
GO:0005737 | cytoplasm | IEA,IDA | 15007172 |
GO:0005739 | mitochondrion | IEA | -- |
GO:0005829 | cytosol | IDA | 15313915 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism | ||
2 | Glioma | ||
3 | Metabolism of nucleotides | ||
4 | Small cell lung cancer |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006163 | purine nucleotide metabolic process | IDA | 9323207 |
GO:0006915 | apoptotic process | IEA | -- |
GO:0009117 | nucleotide metabolic process | TAS | 8794732 |
GO:0015964 | diadenosine triphosphate catabolic process | IBA | 21873635 |
GO:0032435 | negative regulation of proteasomal ubiquitin-dependent protein catabolic process | IMP | 15313915 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 | |||
diadenosine triphosphate |
|
56432-02-1 | ||||
Ganglioside GM3 (d18:1/25:0) |
|
|
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · | 12b | · | 12c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||
SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FHIT 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FHIT 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Fhit 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FHIT 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fhit 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | FHIT 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FHIT 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FHIT 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FHIT 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fhit 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | fhit 30 31 31 |
|
OneToMany | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AAL053C 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C10142g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | HNT2 30 31 33 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | FHIT 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os11g0120600 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | aph1 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708320 | Benign: not provided | 60,536,957(-) | C/A | SYNONYMOUS_VARIANT | |
721413 | Likely Benign: not provided | 59,752,244(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
741725 | Likely Benign: not provided | 60,536,894(-) | G/A | SYNONYMOUS_VARIANT | |
rs11130760 | Association: Lip and oral cavity carcinoma | 60,210,809(-) | G/T | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
renal cell carcinoma, nonpapillary |
|
|
sporadic breast cancer |
|
|
megaesophagus |
|
|
hereditary renal cell carcinoma |
|
|
cervical intraepithelial neoplasia |
|