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Gene id

2272

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

FHIT Gene UCSC Ensembl

Aliases

AP3Aase, FRA3B

Gene name

fragile histidine triad

Alternate names

bis(5'-adenosyl)-triphosphatase, AP3A hydrolase, diadenosine 5',5'''-P1,P3-triphosphate hydrolase, dinucleosidetriphosphatase,

Gene location

3p14.2 (61251473: 59747277) Exons: 20 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 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]

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: 16,858

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	HIT. (2-109)
Motifs	Histidine triad(94-98)
Interpro:	IPR019808 IPR001310 IPR011146 IPR036265
Prosite:	PS00892 PS51084
Pfam:	PF01230
PDB:	1FHI 1FIT 2FHI 2FIT 3FIT 4FIT 5FIT 6FIT
PDBsum:	1FHI 1FIT 2FHI 2FIT 3FIT 4FIT 5FIT 6FIT
DIP:	29947
STRING:	ENSP00000342087;

Other Databases

GeneCards: FHIT; Malacards: FHIT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000166	nucleotide binding	IEA	molecular_function
GO:0003824	catalytic activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005739	mitochondrion	IEA	cellular_component
GO:0005829	cytosol	IDA	cellular_component
GO:0006163	purine nucleotide metabol ic process	IDA	biological_process
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0009117	nucleotide metabolic proc ess	TAS	biological_process
GO:0016787	hydrolase activity	IDA	molecular_function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular_function
GO:0032435	negative regulation of pr oteasomal ubiquitin-depen dent protein catabolic pr ocess	IMP	biological_process
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:0047710	bis(5'-adenosyl)-triphosp hatase activity	IDA	molecular_function
GO:0047710	bis(5'-adenosyl)-triphosp hatase activity	IDA	molecular_function
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0072332	intrinsic apoptotic signa ling pathway by p53 class mediator	IMP	biological_process
GO:0000166	nucleotide binding	IEA	molecular_function
GO:0003824	catalytic activity	IEA	molecular_function
GO:0003824	catalytic activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005739	mitochondrion	IEA	cellular_component
GO:0005739	mitochondrion	IEA	cellular_component
GO:0005829	cytosol	IDA	cellular_component
GO:0006163	purine nucleotide metabol ic process	IDA	biological_process
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006915	apoptotic process	IEA	biological_process
GO:0009117	nucleotide metabolic proc ess	TAS	biological_process
GO:0016787	hydrolase activity	IEA	molecular_function
GO:0016787	hydrolase activity	IDA	molecular_function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular_function
GO:0032435	negative regulation of pr oteasomal ubiquitin-depen dent protein catabolic pr ocess	IMP	biological_process
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:0047710	bis(5'-adenosyl)-triphosp hatase activity	IEA	molecular_function
GO:0047710	bis(5'-adenosyl)-triphosp hatase activity	IDA	molecular_function
GO:0047710	bis(5'-adenosyl)-triphosp hatase activity	IDA	molecular_function
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0072332	intrinsic apoptotic signa ling pathway by p53 class mediator	IMP	biological_process
GO:0003824	catalytic activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	IDA	cellular_component
GO:0006163	purine nucleotide metabol ic process	IDA	biological_process
GO:0009117	nucleotide metabolic proc ess	TAS	biological_process
GO:0016787	hydrolase activity	IDA	molecular_function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular_function
GO:0032435	negative regulation of pr oteasomal ubiquitin-depen dent protein catabolic pr ocess	IMP	biological_process
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:0047710	bis(5'-adenosyl)-triphosp hatase activity	IDA	molecular_function
GO:0047710	bis(5'-adenosyl)-triphosp hatase activity	IDA	molecular_function
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0072332	intrinsic apoptotic signa ling pathway by p53 class mediator	IMP	biological_process

KEGG pathways

hsa05223  Non-small cell lung cancer
hsa05222  Small cell lung cancer
hsa00230  Purine metabolism

Diseases

Associated diseases	References
Asperger Syndrome	GAD21182207
Prostate cancer	GAD17548701
Major depressive disorder	GAD20125088
Lung cancer	GAD17609851
Esophageal cancer	GAD19339270
Diabetes	GAD17606874
Depression	GAD20125088
Colorectal cancer	GAD12530066
Cleft Lip	GAD22419666
Cervical cancer	GAD14675322
Attention-deficit hyperactivity disorder	GAD18821565
Endometriosis	PubMed19620087
Small cell lung cancer	KEGGH00013
Non-small cell lung cancer	KEGGH00014

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
19620087	Endometrio sis			73 (58 patients with endometri osis, 15 patien ts with hystero myoma)		FHIT	Show abstract