P49789

PTMD Annotation Information

※ Protein Information

Tag Content
UniProt Accession FHIT_HUMAN; P49789;
Entrez ID 2272
GenBank Protein ID NM_001166243.2; NM_001320899.1; NM_001320900.1; NM_002012.3;
GenBank Nucleotide ID NP_001159715.1; NP_001307828.1; NP_001307829.1; NP_002003.1;
Protein Name Bis(5'-adenosyl)-triphosphatase (EC 3.6.1.29) (AP3A hydrolase) (AP3Aase) (Diadenosine 5',5'''-P1,P3-triphosphate hydrolase) (Dinucleosidetriphosphatase) (Fragile histidine triad protein)
Gene Name FHIT
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionCleaves 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.
Sequence
(Fasta)		MSFRFGQHLI KPSVVFLKTE LSFALVNRKP VVPGHVLVCP LRPVERFHDL RPDEVADLFQ 60
TTQRVGTVVE KHFHGTSLTF SMQDGPEAGQ TVKHVHVHVL PRKAGDFHRN DSIYEELQKH 120
DKEDFPASWR SEEEMAAEAA ALRVYFQ 148

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1Tyrosine PhosphorylationLung cancer/carcinomaPY11423993961
[Reference]: we showed that activated Gq could increase cell-cell adhesion through Fhit. These findings provide a possible handle to modulate the level of the Fhit tumor suppressor by manipulating the activity of Gq-coupled receptors.
2Tyrosine PhosphorylationBreast cancer/tumor/carcinomaPY11423993961
[Reference]: we showed that activated Gq could increase cell-cell adhesion through Fhit. These findings provide a possible handle to modulate the level of the Fhit tumor suppressor by manipulating the activity of Gq-coupled receptors.

※ Disease Cross-ref Annotation

DatabaseAnnotation
Cancer Gene Census
pleomorphic salivary gland adenoma
CTD (Curated)
(count: 10)
(view all)		MESH:D019969 ; Amphetamine-Related Disorders
MESH:D002277 ; Carcinoma
MESH:D008113 ; Liver Neoplasms
MESH:D008175 ; Lung Neoplasms
MESH:D008654 ; Mesothelioma
MESH:D002289 ; Carcinoma, Non-Small-Cell Lung
DisGeNet (Curated)
(count: 12)
(view all)		C0007131; Non-Small Cell Lung Carcinoma
C0023903; Liver neoplasms
C0024121; Lung Neoplasms
C0025500; Mesothelioma
C0033578; Prostatic Neoplasms
C0036341; Schizophrenia
GWASdb
(count: 269)
(view all)		rs812965; Crohn's disease; Crohn's disease
rs13075135; Suicide attempts in bipolar disorder; bipolar disorder
rs6803403; Suicide attempts in bipolar disorder; bipolar disorder
rs1385715; Suicide attempts in bipolar disorder; bipolar disorder
rs1385715; Tuberculosis; tuberculosis
rs13313901; Bipolar disorder; bipolar disorder

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 2)		 114       FHRNDSIYEELQKHD     dbPAF
145       EAAALRVYFQ*****     dbPAF

※ Protein-Protein Interaction

NetworkInteraction
ABSource