Functions and Diseases

RBP Type Canonical_RBPs
Diseases Disease
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions N.A.
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000189283 Gene ID 2272 Accession 3701
Symbol FHIT Alias FRA3B;AP3Aase Full Name fragile histidine triad diadenosine triphosphatase
Status Confidence Length 1504183 bases Strand Minus strand
Position 3 : 59747277 - 61251459 RNA binding domain DcpS_C
Summary 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]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number
ENSP00000417480 DcpS_C PF11969 5.7e-06 1
ENSP00000417557 DcpS_C PF11969 5.7e-06 1
ENSP00000418582 DcpS_C PF11969 5.7e-06 1

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal
29282095 Impact of FHIT loss on the translation of cancer-associated mRNAs. L Daniel Kiss 2017-12-28 Molecular cancer
28093273 Identification of Fhit as a post-transcriptional effector of Thymidine Kinase 1 expression. L Daniel Kiss 2017-03-01 Biochimica et biophysica acta. Gene regulatory mechanisms
35522782 Chemical Proteomics of the Tumor Suppressor Fhit Covalently Bound to the Cofactor Ap3A Elucidates Its Inhibitory Action on Translation. Doreen Herzog 2022-05-18 Journal of the American Chemical Society

Transcripts

Name Transcript ID bp Protein Translation ID
FHIT-207 ENST00000492590 3116 147aa ENSP00000418582
FHIT-204 ENST00000476844 1033 147aa ENSP00000417557
FHIT-202 ENST00000466788 3063 No protein -
FHIT-203 ENST00000468189 1634 147aa ENSP00000417480
FHIT-205 ENST00000488467 601 78aa ENSP00000418596
FHIT-206 ENST00000490952 1720 No protein -
FHIT-201 ENST00000465330 253 No protein -

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID
340Respiratory Function Tests1.63726832069856E-1017903307
812Sleep1.86055357988859E-517903308
826Sleep5.49352541059896E-617903308
841Sleep1.11283815250505E-517903308
1174Body Mass Index2.53236272869172E-617903300
1245Body Mass Index3.74443613919476E-717903300
1265Body Weight8.70052763863913E-917903300
1343Body Weight7.2515516712443E-717903300
2122Body Weights and Measures6.64599416816817E-817903300
2439Body Mass Index2.20928492346421E-617903300
2545Body Weight6.67395575574214E-617903300
3639Cholesterol, LDL1.93077421409446E-917903299
3767Cholesterol, LDL2.28551705880493E-517903299
3784Cholesterol, LDL3.47305821472081E-517903299
3796Cholesterol, LDL3.45052861150386E-617903299
3809Cholesterol, LDL1.90735841276712E-617903299
5297Cholesterol, LDL6.63729425331994E-617903299
5310Cholesterol, LDL6.98976279678298E-617903299
6541Fibrinogen7.58738768995536E-817903294
7682Glomerular Filtration Rate1.15512639121322E-717903292
7884Creatinine1.33321366701441E-517903292
8647Blood Pressure8.34543393439189E-817903302
10348Electrocardiography8.18219302516354E-517903302
11570Mental Competency5.29972326537287E-517903295
12870Schizophrenia9.8E-5-
13762Myocardial Infarction3.9439308E-004-
14562Prostatic Neoplasms3.9520000E-00518264096
15313Heart Failure7.3567272E-004-
15476Heart Failure6.8380688E-004-
15888Stroke6.7366618E-00419369658
16684Alcoholism2.13E-05-
16714Alcoholism3.67E-05-
16776Alcoholism3.4E-05-
20069Creatinine4.889e-005-
21134Altruism4.496e-005-
23750Muscle, Skeletal7.8870000E-005-
23898Obesity5.7700000E-005-
24970Waist Circumference3.9210000E-005-
25461Coronary Artery Disease9.0450000E-005-
26921Blood Pressure4.1710000E-005-
27061Blood Pressure3.9260000E-005-
27396Hypertrophy, Left Ventricular9.7590000E-005-
29452Cholesterol, LDL6.6920000E-006-
29548Cholesterol5.4900000E-005-
29704Lipoprotein(a)6.3820000E-005-
29984Lipids2.4980000E-005-
30100Cholesterol5.6140000E-005-
30202Albumins4.5080000E-005-
31797Erythrocyte Count9.9610000E-005-
31820Erythrocyte Count4.4260000E-005-
32078Fetal Hemoglobin1.8700000E-00620018918
35133Platelet Function Tests4.4700000E-006-
40656Platelet Function Tests2.8590814E-006-
41249Platelet Function Tests7.2828860E-006-
41434Platelet Function Tests8.0528946E-006-
41808Platelet Function Tests8.5686678E-006-
42899Platelet Function Tests1.6533146E-006-
43990Platelet Function Tests9.2349175E-006-
44021Platelet Function Tests1.7673226E-006-
45513Platelet Function Tests1.6156600E-005-
45531Platelet Function Tests8.8780901E-006-
45896Platelet Function Tests3.5598600E-005-
46551Coronary Artery Disease8.5110000E-005-
46552Coronary Artery Disease8.5110000E-005-
47845Child Development Disorders, Pervasive7.6034000E-006-
47918Child Development Disorders, Pervasive1.2020000E-005-
48620Child Development Disorders, Pervasive7.3102000E-006-
50810Child Development Disorders, Pervasive3.7676000E-006-
50818Child Development Disorders, Pervasive2.5886000E-006-
51545Child Development Disorders, Pervasive1.7947000E-005-
52206Child Development Disorders, Pervasive4.3000000E-005-
52775Interleukin-105.7630000E-005-
53177Hydrocortisone4.4730000E-007-
53211Dehydroepiandrosterone7.5250000E-007-
53700Testosterone1.9640000E-005-
53702Testosterone4.4030000E-005-
55776Folic Acid5.9440000E-005-
55830Lutein1.4360000E-005-
55838Lutein2.4420000E-005-
63470Lip1E-727560520
64059Orofacial Cleft 17E-622419666
65862Schizophrenia5E-826198764
67351Attention Deficit Disorder with Hyperactivity8E-618821565
68659Autosomal dominant compelling helio ophthalmic outburst syndrome2E-3627182965
72269Asperger Syndrome4E-621182207
73161Body Mass Index3E-625673413
74591Pancreatitis8E-627114598
74592Precursor Cell Lymphoblastic Leukemia-Lymphoma8E-627114598
75839Bronchopulmonary Dysplasia3E-623897914
76824Drug Resistance2E-622952603
78842Myopia, Degenerative3E-623049088
79791Antidepressive Agents2E-622760553
82290Dental Caries5E-623470693
82900Body Mass Index3E-725673413
88215Body Mass Index1E-1025673413
90473Aorta8E-621223598
90841Blood Pressure8E-724954895
92154Breast2E-622747683
92155Breast Neoplasms2E-622747683
93561Cognition6E-625644384
94719Body Mass Index2E-1025673413
96809Anticonvulsants7E-722379998
99988Methadone6E-628115739
99989Opioid-Related Disorders6E-628115739
104312Depressive Disorder4E-620125088
106505Depressive Disorder7E-1028049566

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0000166enables nucleotide binding1IEAHomo_sapiens(9606)Function
GO:0001650located_in fibrillar center1IDAHomo_sapiens(9606)Component
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005634is_active_in nucleus1IBAHomo_sapiens(9606)Component
GO:0005737is_active_in cytoplasm2IBA,IDAHomo_sapiens(9606)Component
GO:0005739located_in mitochondrion1IEAHomo_sapiens(9606)Component
GO:0005829located_in cytosol1IDAHomo_sapiens(9606)Component
GO:0005886is_active_in plasma membrane2IBA,IDAHomo_sapiens(9606)Component
GO:0006163involved_in purine nucleotide metabolic process2IBA,IDAHomo_sapiens(9606)Process
GO:0015964involved_in diadenosine triphosphate catabolic process2IBA,IDAHomo_sapiens(9606)Process
GO:0031625enables ubiquitin protein ligase binding2IBA,IPIHomo_sapiens(9606)Function
GO:0032435involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process2IBA,IMPHomo_sapiens(9606)Process
GO:0042802enables identical protein binding1IPIHomo_sapiens(9606)Function
GO:0043530enables adenosine 5-monophosphoramidase activity1IDAHomo_sapiens(9606)Function
GO:0047352enables adenylylsulfate-ammonia adenylyltransferase activity1IDAHomo_sapiens(9606)Function
GO:0047627enables adenylylsulfatase activity1IDAHomo_sapiens(9606)Function
GO:0047710enables bis(5-adenosyl)-triphosphatase activity2IBA,IDAHomo_sapiens(9606)Function
GO:0072332involved_in intrinsic apoptotic signaling pathway by p53 class mediator2IBA,IMPHomo_sapiens(9606)Process

Expression