LOCUS       NM_001354589            3036 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens fragile histidine triad diadenosine triphosphatase
            (FHIT), transcript variant 7, mRNA.
ACCESSION   NM_001354589
VERSION     NM_001354589.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3036)
  AUTHORS   Simon-Carrasco,L., Pietrini,E. and Lopez-Contreras,A.J.
  TITLE     Integrated analysis of FHIT gene alterations in cancer
  JOURNAL   Cell Cycle 23 (1), 92-113 (2024)
   PUBMED   38234243
  REMARK    GeneRIF: Integrated analysis of FHIT gene alterations in cancer.
            Review article
REFERENCE   2  (bases 1 to 3036)
  AUTHORS   Suzuki,T., Sakai,S., Ota,K., Yoshida,M., Uchida,C., Niida,H.,
            Suda,T., Kitagawa,M. and Ohhata,T.
  TITLE     Expression of Tumor Suppressor FHIT Is Regulated by the
            LINC00173-SNAIL Axis in Human Lung Adenocarcinoma
  JOURNAL   Int J Mol Sci 24 (23), 17011 (2023)
   PUBMED   38069335
  REMARK    GeneRIF: Expression of Tumor Suppressor FHIT Is Regulated by the
            LINC00173-SNAIL Axis in Human Lung Adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3036)
  AUTHORS   Mittag,S., Wetzel,F., Muller,S.Y. and Huber,O.
  TITLE     The Rosetta Stone Hypothesis-Based Interaction of the Tumor
            Suppressor Proteins Nit1 and Fhit
  JOURNAL   Cells 12 (3), 353 (2023)
   PUBMED   36766695
  REMARK    GeneRIF: The Rosetta Stone Hypothesis-Based Interaction of the
            Tumor Suppressor Proteins Nit1 and Fhit.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3036)
  AUTHORS   Waters,C.E., Saldivar,J.C., Hosseini,S.A. and Huebner,K.
  TITLE     The FHIT gene product: tumor suppressor and genome 'caretaker'
  JOURNAL   Cell Mol Life Sci 71 (23), 4577-4587 (2014)
   PUBMED   25283145
  REMARK    GeneRIF: Loss of FHIT function leads to nucleotide imbalance,
            spontaneous replication stress, and DNA breaks. [review]
            Review article
REFERENCE   5  (bases 1 to 3036)
  AUTHORS   Rimessi,A., Marchi,S., Fotino,C., Romagnoli,A., Huebner,K.,
            Croce,C.M., Pinton,P. and Rizzuto,R.
  TITLE     Intramitochondrial calcium regulation by the FHIT gene product
            sensitizes to apoptosis
  JOURNAL   Proc Natl Acad Sci U S A 106 (31), 12753-12758 (2009)
   PUBMED   19622739
  REMARK    GeneRIF: Intramitochondrial calcium regulation by the FHIT gene
            product sensitizes to apoptosis.
REFERENCE   6  (bases 1 to 3036)
  AUTHORS   Druck,T., Hadaczek,P., Fu,T.B., Ohta,M., Siprashvili,Z., Baffa,R.,
            Negrini,M., Kastury,K., Veronese,M.L., Rosen,D., Rothstein,J.,
            McCue,P., Cotticelli,M.G., Inoue,H., Croce,C.M. and Huebner,K.
  TITLE     Structure and expression of the human FHIT gene in normal and tumor
            cells
  JOURNAL   Cancer Res 57 (3), 504-512 (1997)
   PUBMED   9012482
REFERENCE   7  (bases 1 to 3036)
  AUTHORS   Ohta,M., Inoue,H., Cotticelli,M.G., Kastury,K., Baffa,R.,
            Palazzo,J., Siprashvili,Z., Mori,M., McCue,P., Druck,T., Croce,C.M.
            and Huebner,K.
  TITLE     The FHIT gene, spanning the chromosome 3p14.2 fragile site and
            renal carcinoma-associated t(3;8) breakpoint, is abnormal in
            digestive tract cancers
  JOURNAL   Cell 84 (4), 587-597 (1996)
   PUBMED   8598045
REFERENCE   8  (bases 1 to 3036)
  AUTHORS   Berger,R., Bloomfield,C.D. and Sutherland,G.R.
  TITLE     Report of the Committee on Chromosome Rearrangements in Neoplasia
            and on Fragile Sites
  JOURNAL   Cytogenet Cell Genet 40 (1-4), 490-535 (1985)
   PUBMED   3864602
REFERENCE   9  (bases 1 to 3036)
  AUTHORS   Wang,N. and Perkins,K.L.
  TITLE     Involvement of band 3p14 in t(3;8) hereditary renal carcinoma
  JOURNAL   Cancer Genet Cytogenet 11 (4), 479-481 (1984)
   PUBMED   6704944
REFERENCE   10 (bases 1 to 3036)
  AUTHORS   Wegner,R.D.
  TITLE     A new inducible fragile site on chromosome 3(p14.2) in human
            lymphocytes
  JOURNAL   Hum Genet 63 (3), 297-298 (1983)
   PUBMED   6852828
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC097357.2, AC138071.2,
            AC096917.3, AC099536.3, AC099780.2 and AC132808.2.
            
            On May 31, 2019 this sequence version replaced NM_001354589.1.
            
            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].
            
            Transcript Variant: This variant (7), as well as variant 8, encodes
            isoform 3.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.138961.1,
                                           SRR7410570.220388.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 19622739
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-152               AC097357.2         121767-121918       c
            153-201             AC097357.2         71083-71131         c
            202-254             AC138071.2         180653-180705       c
            255-347             AC096917.3         25736-25828         c
            348-467             AC099536.3         166315-166434       c
            468-613             AC099780.2         122601-122746       c
            614-643             AC099780.2         119965-119994       c
            644-744             AC132808.2         184447-184547       c
            745-3036            AC132808.2         179503-181794       c
FEATURES             Location/Qualifiers
     source          1..3036
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p14.2"
     gene            1..3036
                     /gene="FHIT"
                     /gene_synonym="AP3Aase; FRA3B"
                     /note="fragile histidine triad diadenosine triphosphatase"
                     /db_xref="GeneID:2272"
                     /db_xref="HGNC:HGNC:3701"
                     /db_xref="MIM:601153"
     exon            1..152
                     /gene="FHIT"
                     /gene_synonym="AP3Aase; FRA3B"
                     /inference="alignment:Splign:2.1.0"
     exon            153..201
                     /gene="FHIT"
                     /gene_synonym="AP3Aase; FRA3B"
                     /inference="alignment:Splign:2.1.0"
     exon            202..254
                     /gene="FHIT"
                     /gene_synonym="AP3Aase; FRA3B"
                     /inference="alignment:Splign:2.1.0"
     exon            255..347
                     /gene="FHIT"
                     /gene_synonym="AP3Aase; FRA3B"
                     /inference="alignment:Splign:2.1.0"
     exon            348..467
                     /gene="FHIT"
                     /gene_synonym="AP3Aase; FRA3B"
                     /inference="alignment:Splign:2.1.0"
     CDS             365..739
                     /gene="FHIT"
                     /gene_synonym="AP3Aase; FRA3B"
                     /EC_number="3.6.1.29"
                     /EC_number="3.6.2.1"
                     /EC_number="2.7.7.51"
                     /note="isoform 3 is encoded by transcript variant 7;
                     bis(5'-adenosyl)-triphosphatase;
                     dinucleosidetriphosphatase; diadenosine
                     5',5'''-P1,P3-triphosphate hydrolase; AP3A hydrolase;
                     adenylylsulfatase; adenosine 5'-monophosphoramidase FHIT;
                     adenylylsulfate-ammonia adenylyltransferase"
                     /codon_start=1
                     /product="bis(5'-adenosyl)-triphosphatase isoform 3"
                     /protein_id="NP_001341518.1"
                     /db_xref="GeneID:2272"
                     /db_xref="HGNC:HGNC:3701"
                     /db_xref="MIM:601153"
                     /translation="MSFRFGQHLIKPSVVFLKTELSFALVNRKPVVPGHVLVCPLRPV
                     ERFHDLRPDEVADLFQTTQRVGTVVEKHFHGTSLTFSMQDGPEAGQTVKLQKHDKEDF
                     PASWRSEEEMAAEAAALRVYFQ"
     exon            468..613
                     /gene="FHIT"
                     /gene_synonym="AP3Aase; FRA3B"
                     /inference="alignment:Splign:2.1.0"
     exon            614..643
                     /gene="FHIT"
                     /gene_synonym="AP3Aase; FRA3B"
                     /inference="alignment:Splign:2.1.0"
     exon            644..744
                     /gene="FHIT"
                     /gene_synonym="AP3Aase; FRA3B"
                     /inference="alignment:Splign:2.1.0"
     exon            745..3036
                     /gene="FHIT"
                     /gene_synonym="AP3Aase; FRA3B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      980..985
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FHIT"
                     /gene_synonym="AP3Aase; FRA3B"
                     /note="hexamer: ATTAAA"
     polyA_site      1003
                     /gene="FHIT"
                     /gene_synonym="AP3Aase; FRA3B"
                     /note="major polyA site"
     regulatory      3011..3016
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FHIT"
                     /gene_synonym="AP3Aase; FRA3B"
                     /note="hexamer: ATTAAA"
     polyA_site      3036
                     /gene="FHIT"
                     /gene_synonym="AP3Aase; FRA3B"
ORIGIN      
        1 agtccccgct ctgctctgtc cggtcacagg actttttgcc ctctgttccc gggtccctca
       61 ggcggccacc cagtgggcac actcccaggc ggcgctccgg ccccgcgctc cctccctctg
      121 cctttcattc ccagctgtca acatcctgga agctttgaag ctcaggaaag aagagaaatc
      181 cactgagaac agtctgtaaa ggtccgtagt gctatctaca tccagacggt ggaagggaga
      241 gaaagagaaa gaaggtatcc taggaatacc tgcctgctta gaccctctat aaaagctctg
      301 tgcatcctgc cactgaggac tccgaagagg tagcagtctt ctgaaagact tcaactgtga
      361 ggacatgtcg ttcagatttg gccaacatct catcaagccc tctgtagtgt ttctcaaaac
      421 agaactgtcc ttcgctcttg tgaataggaa acctgtggta ccaggacatg tccttgtgtg
      481 cccgctgcgg ccagtggagc gcttccatga cctgcgtcct gatgaagtgg ccgatttgtt
      541 tcagacgacc cagagagtcg ggacagtggt ggaaaaacat ttccatggga cctctctcac
      601 cttttccatg caggatggcc ccgaagccgg acagactgtg aagctccaga aacatgacaa
      661 ggaggacttt cctgcctctt ggagatcaga ggaggaaatg gcagcagaag ccgcagctct
      721 gcgggtctac tttcagtgac acagatcctg aattccagca aaagagctat tgccaaccag
      781 tttgaagacc gccccccgcc tctccccaag aggaactgaa tcagcatgaa aatgcagttt
      841 cttcatctca ccatcctgta ttcttcaacc agtgatcccc cacctcggtc actccaactc
      901 ccttaaaata cctagaccta aacggctcag acaggcagat ttgaggtttc cccctgtctc
      961 cttattcggc agccttatga ttaaacttcc ttctctgctg caaccctgtg tctcggtgta
     1021 ttgacttgcc atgaattagg caacaaacct attacagtta cagttacttt tttaaaggaa
     1081 attcaatcgt tggattggtc cacctgctta tttcttccct tttcaaaaaa aatgtctaca
     1141 tattgaattt ttatacatta agtggttcat gaaacccctg aaatgtgtta gtaaataggg
     1201 caattatgaa atatttggac atagctagac tttaaaaatt gttaatctga aggtcagata
     1261 gacttggcct tctccagctt tcgtgattat tccctcagca gcaagctagt cttaggcaga
     1321 gcaagtttaa agacattcat ggtgctcact ctgcaaaact gcacaattct caacatgcac
     1381 agaggcagac atgatagggc tcagccctgg aattgataac actagccaac acacttgcta
     1441 agaatttata agatgtagac cctgttatta tcctgtcttg caagtgatga gaaaactaag
     1501 gcttaaggat gttaagtatt attagttcaa ggccaacggt aagtggcaaa gctcagattt
     1561 gaatccaggc agtcccaccc taaaggccat tctcttagtc tgtgtactgc cctccttgct
     1621 aaaagagctc acctctctag ccacttcctt ctccctgtcc catctcccct tgtaccctcc
     1681 aaatagtctt cttagcctct tcaccttatc tactggccta tttctgcctt gaggacctcc
     1741 cacctcctcg cctgctggac ttcttcctta cctgccttgt taatacaacc ctgcccagca
     1801 cctgcctccc tggtcacact acagccaggt agcagaaacc aaaatgggcc tggatttccc
     1861 caaccaactt ggttctactt gcaagattct cagatcatgc tgaatcctgc ctaggctacc
     1921 ctcccacttt cttttcttta ccatctgacc acatgcctaa ataaacatca cttgggcgaa
     1981 tacagtgttc cccaaattgc attcattccc attttgtcat gatttttctt atctttgtgg
     2041 accacctaga gcattattta cttgattcac tttttgaatt ttagtatata tatcttaaac
     2101 tttatatttc agcctcaaag aaaaacaagt actacctgta attagaagtt aagcataaaa
     2161 ataaacataa gagaaaaaca atgctgatga tttccagctc tgcatagttg cttgccttag
     2221 caactaggag tgagattcag tctctgtgtt aaaaagtgag gctagccacc attagagggg
     2281 catttaattc tagcaccaaa ccgaaactct ccatttggca tattcagaag gattaaagag
     2341 aataacctac tgagagattc aatgtagatc acttaagatt atcttaaaca ggaatatgac
     2401 tgactcccaa ctttggagaa acagcagtgg aggccagatc ttaaacccag agcaagctgg
     2461 ctttagactt gcttcaaccc taaaccagta ctcctttcca cccacccacc tccccccaac
     2521 ccctgcaggc atatcaagaa gacaaggtgc atgggggaaa accaaagagt cagcttccct
     2581 agggctgatg ggtcaaatct cagtgcttgc ctctgacatt ttgcttgccg acagtctgtc
     2641 ttgaaaacca acaggttgca aagaagaatg tgaacaccta tatccagaga tgccctatat
     2701 aagaataaag actataagac caaaaagatg ttcttgactt aatgtttggg gtggacatac
     2761 ctagttatac gatttggctg tttccccacc cacatctcat cttgaattgt agctcccata
     2821 atccccacat gtcatgggag ggacccagtg ggaggtaact gaatcaaggg ggagggtctt
     2881 tcccatgctg ttctcatgat tgatagtgat ggttttataa aggacatttc ccctgaatac
     2941 gctgtcttgc ctgctgccat gtaagatgtg gctttgctcc tcttttgcct tcctccatga
     3001 ttgcgagtcc attaaacctc attcctttat aaatta
//
