FHIT

Protein identityUniProt · HPA

UniProt accession

P49789

Gene

FHIT

Ensembl

ENSG00000189283

Chromosome

3

Canonical length

147 aa

Protein class

Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoli fibrillar center,Plasma membrane

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

147 residues, UniProt reviewed canonical sequence.

>P49789|FHIT
     1  MSFRFGQHLI KPSVVFLKTE LSFALVNRKP VVPGHVLVCP LRPVERFHDL RPDEVADLFQ
    61  TTQRVGTVVE KHFHGTSLTF SMQDGPEAGQ TVKHVHVHVL PRKAGDFHRN DSIYEELQKH
   121  DKEDFPASWR SEEEMAAEAA ALRVYFQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FHIT can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

607 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FHIT.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 53 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hereditary breast ovarian cancer syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.45

gnomAD pLI

0.01

gnomAD missense Z

-1.06

DepMap mean gene effect

0.02

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• intrinsic apoptotic signaling pathway by p53 class mediator
• negative regulation of proteasomal ubiquitin-dependent protein catabolic process
• purine nucleotide metabolic process
• diadenosine triphosphate catabolic process

Molecular functions

• adenosine 5'-monophosphoramidase activity
• bis(5'-adenosyl)-triphosphatase activity
• identical protein binding
• nucleotide binding
• ubiquitin protein ligase binding
• adenylylsulfatase activity
• adenylylsulfate-ammonia adenylyltransferase activity

Cellular components

• cytoplasm
• cytosol
• fibrillar center
• mitochondrion
• nucleus
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• HIT-like domain
• Histidine triad, conserved site
• HIT-like superfamily
• HIT domain
• FHIT family
• Dinucleoside polyphosphate hydrolase

KeywordsUniProt

• Apoptosis
• Chromosomal rearrangement
• Cytoplasm
• Hydrolase
• Manganese
• Mitochondrion
• Nucleotide-binding
• Nucleus
• Phosphoprotein
• Transcription
• Transcription regulation
• Transferase
• Tumor suppressor

InteractionsUniProt · HPA

Protein binding partners of FHIT in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CTNNB1
• MDM2
• UBE2I