• Gene id: 2272

Gene Summary

• Gene Symbol: FHIT   Gene   UCSC   Ensembl
• Aliases: AP3Aase, FRA3B
• Gene name: fragile histidine triad diadenosine triphosphatase
• Alternate names: bis(5'-adenosyl)-triphosphatase, AP3A hydrolase, diadenosine 5',5'''-P1,P3-triphosphate hydrolase, dinucleosidetriphosphatase,
• Gene location: 3p14.2 (61251460: 59747276)     Exons: 17     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 601153

Protein Summary

• Protein general information: P49789  
  • 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)
  • Length: 147  
  • Mass: 16858
  • 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.
• Sequence:

  MSFRFGQHLIKPSVVFLKTELSFALVNRKPVVPGHVLVCPLRPVERFHDLRPDEVADLFQTTQRVGTVVEKHFHG
  TSLTFSMQDGPEAGQTVKHVHVHVLPRKAGDFHRNDSIYEELQKHDKEDFPASWRSEEEMAAEAAALRVYFQ

• Structural information:
  • Protein Domains: (2..10-)
    (/note="HIT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00464"-)
  • Interpro: IPR039383  IPR019808  IPR001310  IPR011146  IPR036265  
  • Prosite: PS00892 PS51084
  • CDD: cd01275
  • PDB: 1FHI 1FIT 2FHI 2FIT 3FIT 4FIT 5FIT 6FIT
  • PDBsum: 1FHI 1FIT 2FHI 2FIT 3FIT 4FIT 5FIT 6FIT
  • DIP: 29947
  • STRING: ENSP00000417480
• Other Databases: GeneCards:  FHIT  Malacards:  FHIT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006163	purine nucleotide metabolic process	IBA	biological process
GO:0031625	ubiquitin protein ligase binding	IBA	molecular function
GO:0032435	negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0072332	intrinsic apoptotic signaling pathway by p53 class mediator	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0015964	diadenosine triphosphate catabolic process	IBA	biological process
GO:0047710	bis(5'-adenosyl)-triphosphatase activity	IBA	molecular function
GO:0006163	purine nucleotide metabolic process	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0047710	bis(5'-adenosyl)-triphosphatase activity	IDA	molecular function
GO:0072332	intrinsic apoptotic signaling pathway by p53 class mediator	IMP	biological process
GO:0032435	negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003824	catalytic activity	TAS	molecular function
GO:0009117	nucleotide metabolic process	TAS	biological process
GO:0047710	bis(5'-adenosyl)-triphosphatase activity	IEA	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0047710	bis(5'-adenosyl)-triphosphatase activity	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0016787	hydrolase activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa05222	Small cell lung cancer
hsa05223	Non-small cell lung cancer

Diseases

Associated diseases	References
Non-small cell lung cancer	KEGG:H00014
Small cell lung cancer	KEGG:H00013
Non-small cell lung cancer	KEGG:H00014
Small cell lung cancer	KEGG:H00013
Prostate cancer	PMID:11839671
Prostate cancer	PMID:15705877
Prostate cancer	PMID:17548701
urinary bladder cancer	PMID:11751381
urinary bladder cancer	PMID:15154012
Squamous cell carcinoma	PMID:17467893
Granulosa cell tumor	PMID:15574200
invasive ductal carcinoma	PMID:12231533
lung non-small cell carcinoma	PMID:9850082
lung non-small cell carcinoma	PMID:9635574
seminoma	PMID:12379753
renal cell carcinoma	PMID:10530564
renal cell carcinoma	PMID:17539022
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq