| Gene Symbol | FHIT |
|---|---|
| Entrez Gene | 2272 |
| Alt Symbol | AP3Aase, FRA3B |
| Species | Human |
| Gene Type | protein-coding |
| Description | fragile histidine triad |
| Other Description | AP3A hydrolase|bis(5'-adenosyl)-triphosphatase|diadenosine 5',5'''-P1,P3-triphosphate hydrolase|dinucleosidetriphosphatase|tumor suppressor protein |
| Swissprots | A2IAT0 P49789 A8K1A9 Q6IU12 A2IAS9 Q45QG9 A2IAT6 |
| Accessions | AAB52539 AAB53793 AAB84098 AAT37530 ABD93870 ABD93871 ABG02271 ABG02272 ABG02273 ABG02274 ABG02275 ABG81420 ABI15739 ABI15740 ABI15741 ABI15742 ABM65879 ABM66086 ABM66087 ABM66088 ABM66089 ABM66090 ABM66091 ABM66092 ABM66093 CAY55966 EAW65393 EAW65394 P49789 AK127931 AK289824 BAF82513 BC032336 AAH32336 BC057223 DA239143 DQ120721 AAZ23623 DQ891575 ABM82501 DQ894769 ABM85695 KJ534835 AHW56475 U46922 AAA99013 XM_011533481 XP_011531783 XM_011533482 XP_011531784 XM_011533483 XP_011531785 XM_011533484 XP_011531786 XM_011533485 XP_011531787 XM_011533486 XP_011531788 NM_001166243 NP_001159715 NM_002012 NP_002003 |
| 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. {ECO:0000269|PubMed:12574506, ECO:0000269|PubMed:15313915, ECO:0000269|PubMed:16407838, ECO: |
| Subcellular Location | Cytoplasm. Mitochondrion. Nucleus. |
| 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. |
| Top Pathways | Small cell lung cancer, Non-small cell lung cancer, Purine metabolism |