Details for: FHIT

Gene ID: 2272

Symbol: FHIT

Ensembl ID: ENSG00000189283

Description: fragile histidine triad diadenosine triphosphatase

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 6.76
    Marker Score: 120082
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 5.21
    Marker Score: 4282
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 5.19
    Marker Score: 4482
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 4.85
    Marker Score: 15886
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 4.76
    Marker Score: 19847.5
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 4.6
    Marker Score: 102879
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 4.15
    Marker Score: 5587
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 3.97
    Marker Score: 1435
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 3.88
    Marker Score: 4692.5
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 3.86
    Marker Score: 2977
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 3.74
    Marker Score: 2459
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 3.65
    Marker Score: 4137
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 3.4
    Marker Score: 1792
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 3.25
    Marker Score: 2257
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 3.19
    Marker Score: 13359.5
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 3.16
    Marker Score: 7554.5
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 3.14
    Marker Score: 11156
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 3.12
    Marker Score: 66606
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 3.11
    Marker Score: 2755
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 2.96
    Marker Score: 5696
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 2.96
    Marker Score: 6495
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 2.96
    Marker Score: 5606
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 2.94
    Marker Score: 858
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 2.89
    Marker Score: 1682
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 2.86
    Marker Score: 825
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 2.81
    Marker Score: 1396
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 2.78
    Marker Score: 6951
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 2.7
    Marker Score: 12480
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.69
    Marker Score: 1576
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.55
    Marker Score: 50682
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 2.39
    Marker Score: 1003
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.39
    Marker Score: 88207
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.39
    Marker Score: 35737
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 2.39
    Marker Score: 8477
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 2.31
    Marker Score: 838
  • Cell Name: fat cell (CL0000136)
    Fold Change: 2.27
    Marker Score: 1271
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.26
    Marker Score: 9375
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 2.23
    Marker Score: 2461.5
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 2.2
    Marker Score: 1222
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 2.18
    Marker Score: 3657
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 2.14
    Marker Score: 6106
  • Cell Name: late pro-B cell (CL0002048)
    Fold Change: 2.12
    Marker Score: 2501
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.1
    Marker Score: 19769
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 2.1
    Marker Score: 2247
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 2.1
    Marker Score: 662
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.03
    Marker Score: 7847
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.02
    Marker Score: 123927
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 2.01
    Marker Score: 735
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.99
    Marker Score: 1899
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.94
    Marker Score: 614
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.93
    Marker Score: 73285
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.91
    Marker Score: 2203
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 1.9
    Marker Score: 829
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.9
    Marker Score: 938
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.88
    Marker Score: 2031
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 1.86
    Marker Score: 590
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.85
    Marker Score: 17554
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.82
    Marker Score: 13926
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.81
    Marker Score: 495
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.81
    Marker Score: 1565
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.75
    Marker Score: 9434
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.75
    Marker Score: 1042
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 1.73
    Marker Score: 1217
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.7
    Marker Score: 14634
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1.67
    Marker Score: 938
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.66
    Marker Score: 1093
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.66
    Marker Score: 996.5
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.64
    Marker Score: 3871
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.64
    Marker Score: 10565
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.63
    Marker Score: 6628
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1.63
    Marker Score: 601
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 1.62
    Marker Score: 429
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.6
    Marker Score: 2463
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 1.56
    Marker Score: 1178
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 1.55
    Marker Score: 1620
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 1.52
    Marker Score: 387
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.52
    Marker Score: 6560
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.48
    Marker Score: 465
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 1.48
    Marker Score: 488
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.48
    Marker Score: 1826
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.47
    Marker Score: 555
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 1.46
    Marker Score: 524
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 167356
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 1.45
    Marker Score: 382
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.43
    Marker Score: 1785
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 1.42
    Marker Score: 530
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.38
    Marker Score: 1960
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 1.38
    Marker Score: 359
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 1.38
    Marker Score: 279
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.37
    Marker Score: 467
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 1.36
    Marker Score: 705
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.35
    Marker Score: 21191
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.3
    Marker Score: 2270
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 1.29
    Marker Score: 1563
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 1.25
    Marker Score: 699
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 1.22
    Marker Score: 659
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.2
    Marker Score: 40454
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.19
    Marker Score: 796
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 1.1
    Marker Score: 6638
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.1
    Marker Score: 1120

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Other Information

**Key characteristics:** * The FHIT gene is highly expressed in the CNS, with highest levels found in cortical cells of the adrenal gland, syncytiotrophoblast cells, taste receptor cells, hepatocytes, epithelial cells of the lower respiratory tract, regular ventricular cardiac myocytes, anterior lens cells, and mature microglial cells. * It is a pseudogenes gene, meaning it is not involved in protein production due to alternative splicing. * It contains three exons and three introns, and its mRNA is regulated by various factors, including the transcription factor NF-κB. **Pathways and functions:** * FHIT is involved in multiple pathways and functions, including: * Adenosine 5'-monophosphoramidase activity: It facilitates the deamination of deoxyadenosine 5'-phosphate to deoxyadenosine 5-monophosphate, a precursor for various cellular processes. * Adenylylsulfatase activity: It is involved in the metabolism of purine nucleotides, and it has been linked to the regulation of inflammation. * Adenylylsulfate-ammonia adenylyltransferase activity: It catalyzes the transfer of an adenine moiety from adenylyl sulfate to ammonia, involved in the synthesis of nucleic acids. * Bis(5'-adenosyl)-triphosphatase activity: It removes a phosphate group from a 5'-adenosyl group, which is involved in DNA repair and cell cycle regulation. * Diadenosine triphosphate catabolic process: It is involved in the degradation of diadenosine triphosphate (ADP), a molecule that can lead to cell death if not properly regulated. * Fibrillar center: It is involved in the assembly and stability of the fibrous center protein, which is essential for the structure of the nuclear envelope. * Identical protein binding: It interacts with an identical protein, which is involved in the regulation of cell growth and differentiation. * Intrinsic apoptotic signaling pathway by p53 class mediator: It is involved in the regulation of apoptosis, the process by which cells die on their own. * Negative regulation of proteasomal ubiquitin-dependent protein catabolic process: It negatively regulates the proteasomal ubiquitin-dependent protein catabolic process, which is involved in the degradation of damaged or misfolded proteins. * Nucleotide binding: It is involved in the binding of nucleotides to DNA and RNA molecules. * Nucleus: It is a key component of the nucleus, where many cellular processes take place. * Protein binding: It interacts with various proteins involved in cellular function. * Purine nucleotide metabolic process: It is involved in the metabolism of purine nucleotides, which are essential for various cellular processes. * Ubiquitin protein ligase binding: It binds to ubiquitin proteins, which are involved in protein degradation. **Clinical significance:** Mutations in the FHIT gene have been linked to various neurological disorders, including Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis. These mutations can result in the accumulation of damaged proteins and the development of neurodegenerative diseases.

Genular Protein ID: 709702454

Symbol: FHIT_HUMAN

Name: Bis(5'-adenosyl)-triphosphatase

UniProtKB Accession Codes:

P49789 A2IAS9 A2IAT0 A2IAT6 A8K1A9 Q45QG9 Q6IU12

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 19 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EC 3 EMBL 18 EPD 1 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 17 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 13 PDBsum 9 PIR 1 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 4 Rhea 4 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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. For the full schema, download it here.