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    Fhit fragile histidine triad gene [ Mus musculus (house mouse) ]

    Gene ID: 14198, updated on 3-Dec-2024

    Summary

    Official Symbol
    Fhitprovided by MGI
    Official Full Name
    fragile histidine triad geneprovided by MGI
    Primary source
    MGI:MGI:1277947
    See related
    Ensembl:ENSMUSG00000060579 AllianceGenome:MGI:1277947
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Fra14A2
    Summary
    This gene encodes a member of the HIT family of proteins that are characterized by the presence of a histidine triad sequence. The encoded protein is a diadenosine triphosphate hydrolase enzyme that cleaves the P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A) to yield AMP and ADP. This locus is very fragile and has been found to be altered in different types of cancers. Mice lacking the encoded protein display increased susceptibility to spontaneous and induced tumors. Ectopic expression of the encoded protein in such knockout mice inhibits tumor development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
    Expression
    Ubiquitous expression in kidney adult (RPKM 2.4), liver E18 (RPKM 1.8) and 27 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Fhit in Genome Data Viewer
    Location:
    14 A1; 14 5.61 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (11307718..12919681)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (9550092..11162061, complement)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_35914 Neighboring gene ribosomal protein L21, pseudogene 4 Neighboring gene Slc25a5 retrotransposed pseudogene Neighboring gene STARR-seq mESC enhancer starr_35913 Neighboring gene STARR-seq mESC enhancer starr_35912 Neighboring gene STARR-seq mESC enhancer starr_35911 Neighboring gene STARR-seq mESC enhancer starr_35910 Neighboring gene STARR-seq mESC enhancer starr_35909 Neighboring gene STARR-seq mESC enhancer starr_35908 Neighboring gene STARR-seq mESC enhancer starr_35907 Neighboring gene STARR-seq mESC enhancer starr_35906 Neighboring gene STARR-seq mESC enhancer starr_35905 Neighboring gene fragile histidine triad gene, opposite strand Neighboring gene STARR-seq mESC enhancer starr_35903 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:11285795-11286069 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:11285582-11285691 Neighboring gene predicted gene, 22053 Neighboring gene STARR-seq mESC enhancer starr_35900 Neighboring gene STARR-seq mESC enhancer starr_35899 Neighboring gene STARR-seq mESC enhancer starr_35898 Neighboring gene STARR-seq mESC enhancer starr_35897 Neighboring gene STARR-seq mESC enhancer starr_35896 Neighboring gene Hmgb3 retrotransposed pseudogene Neighboring gene Mnd1 retrotransposed pseudogene Neighboring gene STARR-seq mESC enhancer starr_35892 Neighboring gene STARR-seq mESC enhancer starr_35891 Neighboring gene STARR-seq mESC enhancer starr_35889 Neighboring gene STARR-seq mESC enhancer starr_35888 Neighboring gene predicted gene, 41096 Neighboring gene predicted gene, 41097 Neighboring gene STARR-seq mESC enhancer starr_35886 Neighboring gene STARR-seq mESC enhancer starr_35885 Neighboring gene STARR-seq mESC enhancer starr_35884 Neighboring gene STARR-seq mESC enhancer starr_35882 Neighboring gene STARR-seq mESC enhancer starr_35880 Neighboring gene predicted gene, 18071

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (2)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables adenosine 5'-monophosphoramidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables adenosine 5'-monophosphoramidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables adenylylsulfatase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables adenylylsulfatase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables adenylylsulfate-ammonia adenylyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables adenylylsulfate-ammonia adenylyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables bis(5'-adenosyl)-triphosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables bis(5'-adenosyl)-triphosphatase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables bis(5'-adenosyl)-triphosphatase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables nickel cation binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ubiquitin protein ligase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ubiquitin protein ligase binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA replication IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in diadenosine triphosphate catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in diadenosine triphosphate catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in diadenosine triphosphate catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in intrinsic apoptotic signaling pathway by p53 class mediator IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intrinsic apoptotic signaling pathway by p53 class mediator ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intrinsic apoptotic signaling pathway by p53 class mediator ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in purine nucleotide metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in purine nucleotide metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in purine nucleotide metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in fibrillar center ISO
    Inferred from Sequence Orthology
    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
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    bis(5'-adenosyl)-triphosphatase
    Names
    AP3A hydrolase
    AP3Aase
    adenosine 5'-monophosphoramidase FHIT
    adenylylsulfatase
    adenylylsulfate-ammonia adenylyltransferase
    diadenosine 5',5'''-P1,P3-triphosphate hydrolase
    dinucleosidetriphosphatase
    fragile histidine triad protein
    NP_001295214.1
    NP_001295215.1
    NP_001347070.1
    NP_001411365.1
    NP_001411366.1
    NP_034340.1
    XP_006517987.1
    XP_036014355.1
    XP_036014356.1
    XP_036014357.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001308285.2NP_001295214.1  bis(5'-adenosyl)-triphosphatase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC154197, AC154570, AC154708, AC159306, CT485999
      Consensus CDS
      CCDS79263.1
      UniProtKB/TrEMBL
      E9PZ91
      Related
      ENSMUSP00000124017.2, ENSMUST00000160340.8
      Conserved Domains (1) summary
      cd01275
      Location:68187
      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_001308286.2NP_001295215.1  bis(5'-adenosyl)-triphosphatase isoform 2

      See identical proteins and their annotated locations for NP_001295215.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, represents the use of an alternate promoter and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1. Both variants 2, 3 and 4 encode the same protein (isoform 2).
      Source sequence(s)
      AC154570, AC159306, CT485999
      Consensus CDS
      CCDS49400.1
      UniProtKB/Swiss-Prot
      O89106, Q6URW5, Q91VL1
      UniProtKB/TrEMBL
      E9PVU9
      Related
      ENSMUSP00000123874.2, ENSMUST00000161302.8
      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_001360141.2NP_001347070.1  bis(5'-adenosyl)-triphosphatase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC105071, AC154197, AC154570, AC154708, AC159306, CT485999
      Consensus CDS
      CCDS49400.1
      UniProtKB/Swiss-Prot
      O89106, Q6URW5, Q91VL1
      UniProtKB/TrEMBL
      E9PVU9
      Related
      ENSMUSP00000124957.2, ENSMUST00000161895.8
      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_001424436.1NP_001411365.1  bis(5'-adenosyl)-triphosphatase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC105071, AC154197, AC154570, AC154708, AC159306, CT485999
      UniProtKB/Swiss-Prot
      O89106, Q6URW5, Q91VL1
      UniProtKB/TrEMBL
      E9PVU9
    5. NM_001424437.1NP_001411366.1  bis(5'-adenosyl)-triphosphatase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC154570, AC154708, AC159306, CT485999
      UniProtKB/Swiss-Prot
      O89106, Q6URW5, Q91VL1
      UniProtKB/TrEMBL
      E9PVU9
    6. NM_010210.4NP_034340.1  bis(5'-adenosyl)-triphosphatase isoform 2

      See identical proteins and their annotated locations for NP_034340.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1. Variants 2, 3 and 4 encode the same protein (isoform 2).
      Source sequence(s)
      AC154197, AC154570, AC154708, AC159306, CT485999
      Consensus CDS
      CCDS49400.1
      UniProtKB/Swiss-Prot
      O89106, Q6URW5, Q91VL1
      UniProtKB/TrEMBL
      E9PVU9
      Related
      ENSMUSP00000124073.2, ENSMUST00000162278.8
      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 ...

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000080.7 Reference GRCm39 C57BL/6J

      Range
      11307718..12919681
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036158463.1XP_036014356.1  bis(5'-adenosyl)-triphosphatase isoform X3

      UniProtKB/Swiss-Prot
      O89106, Q6URW5, Q91VL1
      UniProtKB/TrEMBL
      E9PVU9
      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. XM_036158464.1XP_036014357.1  bis(5'-adenosyl)-triphosphatase isoform X3

      UniProtKB/Swiss-Prot
      O89106, Q6URW5, Q91VL1
      UniProtKB/TrEMBL
      E9PVU9
      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. XM_006517924.1XP_006517987.1  bis(5'-adenosyl)-triphosphatase isoform X2

      Conserved Domains (1) summary
      cd01275
      Location:40159
      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. XM_036158462.1XP_036014355.1  bis(5'-adenosyl)-triphosphatase isoform X1

      UniProtKB/TrEMBL
      E9PZ91
      Conserved Domains (1) summary
      cd01275
      Location:68187
      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 ...