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FHIT fragile histidine triad diadenosine triphosphatase [ Homo sapiens (human) ]

Gene ID: 2272, updated on 27-Nov-2021

Summary

Official Symbol
FHITprovided by HGNC
Official Full Name
fragile histidine triad diadenosine triphosphataseprovided by HGNC
Primary source
HGNC:HGNC:3701
See related
Ensembl:ENSG00000189283 MIM:601153
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FRA3B; AP3Aase
Summary
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]
Expression
Ubiquitous expression in gall bladder (RPKM 2.2), lymph node (RPKM 1.6) and 25 other tissues See more
Orthologs
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Genomic context

See FHIT in Genome Data Viewer
Location:
3p14.2
Exon count:
17
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (59747277..61251452, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (59733003..61237126, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene CFAP20DC divergent transcript Neighboring gene Sharpr-MPRA regulatory region 3507 Neighboring gene hCG1813818 Neighboring gene uncharacterized LOC105377113 Neighboring gene uncharacterized LOC105377112 Neighboring gene uncharacterized LOC107986015 Neighboring gene origin of replication at fragile site FRA3B Neighboring gene transcription termination factor 1, mitochondrial-like Neighboring gene transmembrane p24 trafficking protein 2 pseudogene Neighboring gene microRNA 548bb Neighboring gene peptidylprolyl isomerase A pseudogene 70 Neighboring gene peptidylprolyl isomerase A pseudogene 71 Neighboring gene uncharacterized LOC105377111 Neighboring gene Sharpr-MPRA regulatory region 1919 Neighboring gene Sharpr-MPRA regulatory region 15147 Neighboring gene Sharpr-MPRA regulatory region 9847 Neighboring gene uncharacterized LOC105377114 Neighboring gene uncharacterized LOC105377115 Neighboring gene Sharpr-MPRA regulatory region 1523 Neighboring gene uncharacterized LOC107986016 Neighboring gene protein tyrosine phosphatase receptor type G

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
GeneReviews: Not available
A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.
GeneReviews: Not available
Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.
GeneReviews: Not available
Genetic variants associated with breast size also influence breast cancer risk.
GeneReviews: Not available
Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.
GeneReviews: Not available
Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.
GeneReviews: Not available
Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.
GeneReviews: Not available
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
GeneReviews: Not available
Genome-wide association study of maternal and inherited loci for conotruncal heart defects.
GeneReviews: Not available
Genome-wide association study of recurrent early-onset major depressive disorder.
GeneReviews: Not available
Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study.
GeneReviews: Not available
Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions.
GeneReviews: Not available
Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D.
GeneReviews: Not available
Variants in several genomic regions associated with asperger disorder.
GeneReviews: Not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2018-10-24)

ClinGen Genome Curation PagePubMed
Haploinsufficency

No evidence available (Last evaluated 2018-10-24)

ClinGen Genome Curation PagePubMed

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat-fused fragile histidine triad (FHIT) can robustly inhibit growth and induce apoptosis of human hepatocellular carcinoma cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables adenosine 5'-monophosphoramidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables adenylylsulfatase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables adenylylsulfate-ammonia adenylyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables bis(5'-adenosyl)-triphosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables bis(5'-adenosyl)-triphosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables ubiquitin protein ligase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in fibrillar center IDA
Inferred from Direct Assay
more info
 
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
bis(5'-adenosyl)-triphosphatase
Names
AP3A hydrolase
adenosine 5'-monophosphoramidase FHIT
adenylylsulfatase
adenylylsulfate-ammonia adenylyltransferase
diadenosine 5',5'''-P1,P3-triphosphate hydrolase
dinucleosidetriphosphatase
NP_001159715.1
NP_001307828.1
NP_001307829.1
NP_001307830.1
NP_001341518.1
NP_001341519.1
NP_002003.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007551.2 RefSeqGene

    Range
    5008..1509183
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166243.3NP_001159715.1  bis(5'-adenosyl)-triphosphatase isoform 1

    See identical proteins and their annotated locations for NP_001159715.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), as well as variants 1, 3, and 4, encodes isoform 1.
    Source sequence(s)
    AC132808, BC032336, DB477833
    Consensus CDS
    CCDS2894.1
    UniProtKB/Swiss-Prot
    P49789
    UniProtKB/TrEMBL
    A0A024R366
    Related
    ENSP00000417557.1, ENST00000476844.5
    Conserved Domains (1) summary
    cd01275
    Location:5124
    FHIT; FHIT (fragile histidine family): FHIT proteins, related to the HIT family carry a motif HxHxH/Qxx (x, is a hydrophobic amino acid), On the basis of sequence, substrate specificity, structure, evolution and mechanism, HIT proteins are classified into ...
  2. NM_001320899.2NP_001307828.1  bis(5'-adenosyl)-triphosphatase isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), as well as variants 1, 2, and 4, encodes isoform 1.
    Source sequence(s)
    AC132808, AK289824, DB477833
    Consensus CDS
    CCDS2894.1
    UniProtKB/Swiss-Prot
    P49789
    UniProtKB/TrEMBL
    A0A024R366
    Related
    ENSP00000417480.1, ENST00000468189.5
    Conserved Domains (1) summary
    cd01275
    Location:5124
    FHIT; FHIT (fragile histidine family): FHIT proteins, related to the HIT family carry a motif HxHxH/Qxx (x, is a hydrophobic amino acid), On the basis of sequence, substrate specificity, structure, evolution and mechanism, HIT proteins are classified into ...
  3. NM_001320900.2NP_001307829.1  bis(5'-adenosyl)-triphosphatase isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), as well as variants 1-3, encodes isoform 1.
    Source sequence(s)
    AC096917, AC097357, AC098480, AC099536, AC099780, AC132808, AC138071
    Consensus CDS
    CCDS2894.1
    UniProtKB/Swiss-Prot
    P49789
    UniProtKB/TrEMBL
    A0A024R366
    Conserved Domains (1) summary
    cd01275
    Location:5124
    FHIT; FHIT (fragile histidine family): FHIT proteins, related to the HIT family carry a motif HxHxH/Qxx (x, is a hydrophobic amino acid), On the basis of sequence, substrate specificity, structure, evolution and mechanism, HIT proteins are classified into ...
  4. NM_001320901.2NP_001307830.1  bis(5'-adenosyl)-triphosphatase isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) encodes a protein with a shorter N-terminus than isoform 1.
    Source sequence(s)
    AC132808, BE246370, DB131595
    Conserved Domains (1) summary
    cl00228
    Location:468
    HIT_like; HIT family: HIT (Histidine triad) proteins, named for a motif related to the sequence HxHxH/Qxx (x, a hydrophobic amino acid), are a superfamily of nucleotide hydrolases and transferases, which act on the alpha-phosphate of ribonucleotides. On the basis ...
  5. NM_001354589.2NP_001341518.1  bis(5'-adenosyl)-triphosphatase isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variant 8, encodes isoform 3.
    Source sequence(s)
    AC096917, AC097357, AC099536, AC099780, AC132808, AC138071
    Conserved Domains (1) summary
    cl00228
    Location:592
    HIT_like; HIT family: HIT (Histidine triad) proteins, named for a motif related to the sequence HxHxH/Qxx (x, a hydrophobic amino acid), are a superfamily of nucleotide hydrolases and transferases, which act on the alpha-phosphate of ribonucleotides. On the basis ...
  6. NM_001354590.2NP_001341519.1  bis(5'-adenosyl)-triphosphatase isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variant 7, encodes isoform 3.
    Source sequence(s)
    AC096917, AC097357, AC099536, AC099780, AC132808, AC138071
    Conserved Domains (1) summary
    cl00228
    Location:592
    HIT_like; HIT family: HIT (Histidine triad) proteins, named for a motif related to the sequence HxHxH/Qxx (x, a hydrophobic amino acid), are a superfamily of nucleotide hydrolases and transferases, which act on the alpha-phosphate of ribonucleotides. On the basis ...
  7. NM_002012.4NP_002003.1  bis(5'-adenosyl)-triphosphatase isoform 1

    See identical proteins and their annotated locations for NP_002003.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1-4 all encode the same isoform (1).
    Source sequence(s)
    AC132808, DB477833, U46922
    Consensus CDS
    CCDS2894.1
    UniProtKB/Swiss-Prot
    P49789
    UniProtKB/TrEMBL
    A0A024R366
    Related
    ENSP00000418582.1, ENST00000492590.6
    Conserved Domains (1) summary
    cd01275
    Location:5124
    FHIT; FHIT (fragile histidine family): FHIT proteins, related to the HIT family carry a motif HxHxH/Qxx (x, is a hydrophobic amino acid), On the basis of sequence, substrate specificity, structure, evolution and mechanism, HIT proteins are classified into ...

RNA

  1. NR_135491.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) is represented as non-coding because the predicted ORF does not meet RefSeq quality criteria.
    Source sequence(s)
    AC099780, AC132808, AK127931, BE246370
  2. NR_148921.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC096917, AC097357, AC104164, AC138071
  3. NR_148922.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC096917, AC097357, AC138071

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    59747277..61251452 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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