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

Gene ID: 14198, updated on 8-Feb-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
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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)
  • Targeted (2)  1 citation
  • Endonuclease-mediated (2) 

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 adenylylsulfatase activity ISO
Inferred from Sequence Orthology
more info
 
enables adenylylsulfate-ammonia adenylyltransferase activity ISO
Inferred from Sequence Orthology
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 catalytic activity IEA
Inferred from Electronic Annotation
more info
 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
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 transferase activity 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
 
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 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)

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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.

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 ...