Details for: FHIT

Gene ID: 2272

Symbol: FHIT

Ensembl ID: ENSG00000189283

Description: fragile histidine triad diadenosine triphosphatase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 510.7839
    Cell Significance Index: -79.4500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 298.7856
    Cell Significance Index: -75.7900
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 171.8422
    Cell Significance Index: -70.7900
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 170.0406
    Cell Significance Index: -80.2800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 159.3080
    Cell Significance Index: -64.7200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 65.6106
    Cell Significance Index: -80.9000
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 31.7081
    Cell Significance Index: -97.3900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 28.2527
    Cell Significance Index: -75.6900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 24.7374
    Cell Significance Index: -54.1400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 20.7651
    Cell Significance Index: -81.9400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 6.2160
    Cell Significance Index: 477.0100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 5.5234
    Cell Significance Index: 148.0000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 5.2579
    Cell Significance Index: 146.9400
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 4.4957
    Cell Significance Index: 62.8700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 3.7775
    Cell Significance Index: 749.6600
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 3.0270
    Cell Significance Index: 26.8700
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 2.8828
    Cell Significance Index: 61.6200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.7909
    Cell Significance Index: 1001.0600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 2.7203
    Cell Significance Index: 103.0100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 2.5583
    Cell Significance Index: 113.1600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.5560
    Cell Significance Index: 512.7300
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 2.2676
    Cell Significance Index: 13.9900
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 2.1434
    Cell Significance Index: 26.9900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 2.1257
    Cell Significance Index: 1470.2400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 2.0646
    Cell Significance Index: 3887.4800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.9018
    Cell Significance Index: 106.7200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.8696
    Cell Significance Index: 2878.2400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.7476
    Cell Significance Index: 3223.0800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.6936
    Cell Significance Index: 1075.6300
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 1.6615
    Cell Significance Index: 40.5400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 1.6193
    Cell Significance Index: 108.8800
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 1.5669
    Cell Significance Index: 44.7200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.3149
    Cell Significance Index: 33.8000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.2231
    Cell Significance Index: 555.1300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.0824
    Cell Significance Index: 1471.7300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.0579
    Cell Significance Index: 955.1700
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.7004
    Cell Significance Index: 13.6700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.6955
    Cell Significance Index: 20.0400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5178
    Cell Significance Index: 84.2200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.4867
    Cell Significance Index: 22.0600
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.4812
    Cell Significance Index: 7.3200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.4495
    Cell Significance Index: 27.6300
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.3150
    Cell Significance Index: 4.6500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2566
    Cell Significance Index: 46.2600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2333
    Cell Significance Index: 127.3900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.1969
    Cell Significance Index: 20.5000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.1908
    Cell Significance Index: 22.2300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0981
    Cell Significance Index: 4.6100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0858
    Cell Significance Index: 10.5500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0586
    Cell Significance Index: 7.5700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0584
    Cell Significance Index: 5.7800
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.0214
    Cell Significance Index: 0.3600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0103
    Cell Significance Index: 0.7100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0081
    Cell Significance Index: 1.5500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0032
    Cell Significance Index: 0.0700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.0473
    Cell Significance Index: -0.5900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0529
    Cell Significance Index: -38.7800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0919
    Cell Significance Index: -40.6400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0930
    Cell Significance Index: -68.9200
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: -0.1056
    Cell Significance Index: -1.0700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.1066
    Cell Significance Index: -80.6700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1279
    Cell Significance Index: -21.8400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1501
    Cell Significance Index: -84.6400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.1513
    Cell Significance Index: -94.4800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1655
    Cell Significance Index: -24.0600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2056
    Cell Significance Index: -12.9600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.2193
    Cell Significance Index: -22.4100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.2260
    Cell Significance Index: -31.0300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2475
    Cell Significance Index: -5.9400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2585
    Cell Significance Index: -13.4300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.2763
    Cell Significance Index: -9.7100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.2802
    Cell Significance Index: -80.6300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.4131
    Cell Significance Index: -30.7900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.4559
    Cell Significance Index: -96.0300
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.4966
    Cell Significance Index: -7.3300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.5142
    Cell Significance Index: -60.6400
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.5142
    Cell Significance Index: -6.4900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.5374
    Cell Significance Index: -9.2100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.5545
    Cell Significance Index: -63.5300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.5887
    Cell Significance Index: -27.4500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.6970
    Cell Significance Index: -89.3500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.7293
    Cell Significance Index: -18.2300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.7824
    Cell Significance Index: -11.2100
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: -0.8227
    Cell Significance Index: -13.2800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.8232
    Cell Significance Index: -65.2000
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.9550
    Cell Significance Index: -20.2700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.9693
    Cell Significance Index: -50.8900
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.9876
    Cell Significance Index: -17.0800
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -1.0153
    Cell Significance Index: -9.3500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.0785
    Cell Significance Index: -66.1200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -1.0823
    Cell Significance Index: -23.0500
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -1.0829
    Cell Significance Index: -15.5500
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -1.1086
    Cell Significance Index: -9.0400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -1.1261
    Cell Significance Index: -72.6500
  • Cell Name: serous secreting cell of bronchus submucosal gland (CL4033005)
    Fold Change: -1.1342
    Cell Significance Index: -11.3500
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: -1.1538
    Cell Significance Index: -11.9500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -1.1632
    Cell Significance Index: -15.8700
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -1.1947
    Cell Significance Index: -15.3200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -1.2358
    Cell Significance Index: -64.3700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Location and Expression:** The FHIT gene is primarily expressed in specific cell types, including cortical cells of the adrenal gland, syncytiotrophoblast cells, taste receptor cells, hepatoblasts, epithelial cells of the lower respiratory tract, regular ventricular cardiac myocytes, anterior lens cells, mature microglial cells, lens epithelial cells, and renal principal cells. 2. **Protein Structure:** The FHIT protein is a diadenosine triphosphatase, consisting of a catalytic domain and a regulatory domain. The catalytic domain is responsible for the hydrolysis of diadenosine triphosphate (Ap4A), while the regulatory domain modulates the activity of the enzyme. 3. **Enzymatic Activities:** FHIT exhibits a range of enzymatic activities, including adenosine 5'-monophosphoramidase, adenylylsulfatase, adenylylsulfate-ammonia adenylyltransferase, and bis(5'-adenosyl)-triphosphatase. These activities are involved in various cellular processes, including DNA repair, apoptosis, and immune response. **Pathways and Functions:** FHIT plays a crucial role in various signaling pathways, including: 1. **Apoptosis:** FHIT is involved in the intrinsic apoptotic signaling pathway by p53 class mediators, regulating the activity of pro-apoptotic proteins. 2. **DNA Repair:** FHIT participates in the catabolic process of diadenosine triphosphate (Ap4A), which is involved in DNA repair and maintenance. 3. **Immune Response:** FHIT is expressed in immune cells, such as microglial cells, and regulates the activity of ubiquitin protein ligases, which are involved in the ubiquitin-proteasome pathway. 4. **Cell Growth Regulation:** FHIT modulates the activity of protein binding partners, which are involved in cell growth and proliferation. **Clinical Significance:** The FHIT gene has been implicated in various diseases, including: 1. **Cancer:** FHIT is frequently deleted or mutated in various types of cancer, including lung, breast, and colon cancer. 2. **Neurodegenerative Diseases:** FHIT has been associated with neurodegenerative diseases, such as Alzheimer's and Parkinson's disease. 3. **Immunological Disorders:** FHIT is expressed in immune cells and plays a role in regulating the activity of ubiquitin protein ligases, which are involved in autoimmune diseases. In conclusion, the fragile histidine triad diadenosine triphosphatase (FHIT) gene is a complex and multifunctional gene that plays a crucial role in maintaining genomic stability and regulating cell growth. Its dysregulation has been implicated in various diseases, including cancer, neurodegenerative diseases, and immunological disorders. Further research is needed to fully understand the functions of FHIT and its potential as a therapeutic target for various diseases.

Genular Protein ID: 709702454

Symbol: FHIT_HUMAN

Name: Bis(5'-adenosyl)-triphosphatase

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8598045

Title: The FHIT gene, spanning the chromosome 3p14.2 fragile site and renal carcinoma-associated t(3;8) breakpoint, is abnormal in digestive tract cancers.

PubMed ID: 8598045

DOI: 10.1016/s0092-8674(00)81034-x

PubMed ID: 9012482

Title: Structure and expression of the human FHIT gene in normal and tumor cells.

PubMed ID: 9012482

PubMed ID: 24722188

Title: Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.

PubMed ID: 24722188

DOI: 10.1038/ncomms4650

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8794732

Title: Fhit, a putative tumor suppressor in humans, is a dinucleoside 5',5''-P1,P3-triphosphate hydrolase.

PubMed ID: 8794732

DOI: 10.1021/bi961415t

PubMed ID: 9543008

Title: Purification and crystallization of complexes modeling the active state of the fragile histidine triad protein.

PubMed ID: 9543008

DOI: 10.1093/protein/10.12.1461

PubMed ID: 9689122

Title: The hereditary renal cell carcinoma 3;8 translocation fuses FHIT to a patched-related gene, TRC8.

PubMed ID: 9689122

DOI: 10.1073/pnas.95.16.9572

PubMed ID: 11085938

Title: Association of FHIT (fragile histidine triad), a candidate tumour suppressor gene, with the ubiquitin-conjugating enzyme hUBC9.

PubMed ID: 11085938

DOI: 10.1042/bj3520443

PubMed ID: 12574506

Title: Designed FHIT alleles establish that Fhit-induced apoptosis in cancer cells is limited by substrate binding.

PubMed ID: 12574506

DOI: 10.1073/pnas.0437915100

PubMed ID: 15182206

Title: The mechanism of action of the fragile histidine triad, Fhit: isolation of a covalent adenylyl enzyme and chemical rescue of H96G-Fhit.

PubMed ID: 15182206

DOI: 10.1021/bi049762n

PubMed ID: 15313915

Title: Synergistic tumor suppression by coexpression of FHIT and p53 coincides with FHIT-mediated MDM2 inactivation and p53 stabilization in human non-small cell lung cancer cells.

PubMed ID: 15313915

DOI: 10.1158/0008-5472.can-04-0195

PubMed ID: 15007172

Title: Fhit is a physiological target of the protein kinase Src.

PubMed ID: 15007172

DOI: 10.1073/pnas.0400481101

PubMed ID: 16407838

Title: Fhit modulation of the Akt-survivin pathway in lung cancer cells: Fhit-tyrosine 114 (Y114) is essential.

PubMed ID: 16407838

DOI: 10.1038/sj.onc.1209323

PubMed ID: 18077326

Title: The tumor suppressor Fhit acts as a repressor of beta-catenin transcriptional activity.

PubMed ID: 18077326

DOI: 10.1073/pnas.0703664105

PubMed ID: 18694747

Title: Fhit proteins can also recognize substrates other than dinucleoside polyphosphates.

PubMed ID: 18694747

DOI: 10.1016/j.febslet.2008.07.060

PubMed ID: 19622739

Title: Intramitochondrial calcium regulation by the FHIT gene product sensitizes to apoptosis.

PubMed ID: 19622739

DOI: 10.1073/pnas.0906484106

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 26181368

Title: Adenylylsulfate-ammonia adenylyltransferase activity is another inherent property of Fhit proteins.

PubMed ID: 26181368

DOI: 10.1042/bsr20150135

PubMed ID: 9261067

Title: MAD analysis of FHIT, a putative human tumor suppressor from the HIT protein family.

PubMed ID: 9261067

DOI: 10.1016/s0969-2126(97)00231-1

PubMed ID: 9323207

Title: Structure-based analysis of catalysis and substrate definition in the HIT protein family.

PubMed ID: 9323207

DOI: 10.1126/science.278.5336.286

PubMed ID: 9576908

Title: Genetic, biochemical, and crystallographic characterization of Fhit-substrate complexes as the active signaling form of Fhit.

PubMed ID: 9576908

DOI: 10.1073/pnas.95.10.5484

Sequence Information:

  • Length: 147
  • Mass: 16858
  • Checksum: 14D85961A19ECF3E
  • Sequence:
  • MSFRFGQHLI KPSVVFLKTE LSFALVNRKP VVPGHVLVCP LRPVERFHDL RPDEVADLFQ 
    TTQRVGTVVE KHFHGTSLTF SMQDGPEAGQ TVKHVHVHVL PRKAGDFHRN DSIYEELQKH 
    DKEDFPASWR SEEEMAAEAA ALRVYFQ

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.