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    FHIT fragile histidine triad [ Homo sapiens (human) ]

    Gene ID: 2272, updated on 22-Apr-2017
    Official Symbol
    FHITprovided by HGNC
    Official Full Name
    fragile histidine triadprovided by HGNC
    Primary source
    HGNC:HGNC:3701
    See related
    Ensembl:ENSG00000189283 MIM:601153; Vega:OTTHUMG00000158591
    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
    This gene, a member of the histidine triad gene family, encodes a diadenosine 5',5'''-P1,P3-triphosphate hydrolase involved in purine metabolism. The gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts of this gene. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]
    Orthologs
    Location:
    3p14.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (59747278..61251474, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (59735036..61237133, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377110 Neighboring gene small nuclear ribonucleoprotein polypeptide B2 pseudogene Neighboring gene hCG1813818 Neighboring gene uncharacterized LOC105377113 Neighboring gene uncharacterized LOC105377112 Neighboring gene uncharacterized LOC107986015 Neighboring gene transcription termination factor 1, mitochondrial-like Neighboring gene peptidylprolyl isomerase A (cyclophilin A) pseudogene Neighboring gene transmembrane p24 trafficking protein 2 pseudogene Neighboring gene peptidyl-prolyl cis-trans isomerase A pseudogene Neighboring gene microRNA 548bb Neighboring gene uncharacterized LOC105377111 Neighboring gene uncharacterized LOC105377114 Neighboring gene uncharacterized LOC105377115 Neighboring gene uncharacterized LOC107986016 Neighboring gene protein tyrosine phosphatase, receptor type G

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
    NHGRI GWA Catalog
    A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.
    NHGRI GWA Catalog
    Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.
    NHGRI GWA Catalog
    Genetic variants associated with breast size also influence breast cancer risk.
    NHGRI GWA Catalog
    Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.
    NHGRI GWA Catalog
    Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.
    NHGRI GWA Catalog
    Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.
    NHGRI GWA Catalog
    Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
    NHGRI GWA Catalog
    Genome-wide association study of maternal and inherited loci for conotruncal heart defects.
    NHGRI GWA Catalog
    Genome-wide association study of recurrent early-onset major depressive disorder.
    NHGRI GWA Catalog
    Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study.
    NHGRI GWA Catalog
    Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions.
    NHGRI GWA Catalog
    Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D.
    NHGRI GWA Catalog
    Variants in several genomic regions associated with asperger disorder.
    NHGRI GWA Catalog

    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

    • Non-small cell lung cancer, organism-specific biosystem (from KEGG)
      Non-small cell lung cancer, organism-specific biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of lung cancer and represents a heter...
    • Non-small cell lung cancer, conserved biosystem (from KEGG)
      Non-small cell lung cancer, conserved biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of lung cancer and represents a heter...
    • Purine metabolism, organism-specific biosystem (from KEGG)
      Purine metabolism, organism-specific biosystem
      Purine metabolism
    • Purine metabolism, conserved biosystem (from KEGG)
      Purine metabolism, conserved biosystem
      Purine metabolism
    • Small cell lung cancer, organism-specific biosystem (from KEGG)
      Small cell lung cancer, organism-specific biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% ...
    • Small cell lung cancer, conserved biosystem (from KEGG)
      Small cell lung cancer, conserved biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    bis(5'-adenosyl)-triphosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    catalytic activity TAS
    Traceable Author Statement
    more info
    PubMed 
    hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    bis(5'-adenosyl)-triphosphatase
    Names
    AP3A hydrolase
    diadenosine 5',5'''-P1,P3-triphosphate hydrolase
    dinucleosidetriphosphatase
    NP_001159715.1
    NP_001307828.1
    NP_001307829.1
    NP_001307830.1
    NP_002003.1

    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
      4999..1509182
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001166243.2NP_001159715.1  bis(5'-adenosyl)-triphosphatase 1

      See identical proteins and their annotated locations for NP_001159715.1

      Status: REVIEWED

      Source sequence(s)
      AC132808, BC032336, DB477833
      Consensus CDS
      CCDS2894.1
      UniProtKB/Swiss-Prot
      P49789
      UniProtKB/TrEMBL
      A0A024R366
      Related
      ENSP00000417557.1, OTTHUMP00000213128, ENST00000476844.5, OTTHUMT00000351424
      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_001320899.1NP_001307828.1  bis(5'-adenosyl)-triphosphatase 1

      Status: REVIEWED

      Source sequence(s)
      AC132808, AK289824, DB477833
      Consensus CDS
      CCDS2894.1
      UniProtKB/Swiss-Prot
      P49789
      UniProtKB/TrEMBL
      A0A024R366
      Related
      ENSP00000417480.1, OTTHUMP00000213224, ENST00000468189.5, OTTHUMT00000351648
      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_001320900.1NP_001307829.1  bis(5'-adenosyl)-triphosphatase 1

      Status: REVIEWED

      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_001320901.1NP_001307830.1  bis(5'-adenosyl)-triphosphatase 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) encodes a protein with a shorter N-terminus than isoform 1.
      Source sequence(s)
      AC099780, 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_002012.3NP_002003.1  bis(5'-adenosyl)-triphosphatase 1

      See identical proteins and their annotated locations for NP_002003.1

      Status: REVIEWED

      Source sequence(s)
      AC132808, DB477833, U46922
      Consensus CDS
      CCDS2894.1
      UniProtKB/Swiss-Prot
      P49789
      UniProtKB/TrEMBL
      A0A024R366
      Related
      ENSP00000418582.1, OTTHUMP00000213225, ENST00000492590.5, OTTHUMT00000351649
      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_135491.1 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

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      59747278..61251474 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017005881.1XP_016861370.1  bis(5'-adenosyl)-triphosphatase isoform X1

    2. XM_017005882.1XP_016861371.1  bis(5'-adenosyl)-triphosphatase isoform X2

    3. XM_017005884.1XP_016861373.1  bis(5'-adenosyl)-triphosphatase isoform X4

    4. XM_017005883.1XP_016861372.1  bis(5'-adenosyl)-triphosphatase isoform X3

    5. XM_017005880.1XP_016861369.1  bis(5'-adenosyl)-triphosphatase isoform X1

    6. XM_017005885.1XP_016861374.1  bis(5'-adenosyl)-triphosphatase isoform X5

    7. XM_017005886.1XP_016861375.1  bis(5'-adenosyl)-triphosphatase isoform X5

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      59683554..61187678 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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