LOCUS       NM_001166243            3105 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens fragile histidine triad diadenosine triphosphatase
            (FHIT), transcript variant 2, mRNA.
ACCESSION   NM_001166243
VERSION     NM_001166243.3
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 3105)
  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 3105)
  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 3105)
  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 3105)
  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 3105)
  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 3105)
  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 3105)
  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 3105)
  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 3105)
  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 3105)
  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 DB477833.1, BC032336.1 and
            AC132808.2.
            
            On May 31, 2019 this sequence version replaced NM_001166243.2.
            
            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 (2), as well as variants 1, 3, and
            4, encodes isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: SRR1803616.28345.1,
                                           SRR7346977.415398.1 [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
            1-39                DB477833.1         10-48
            40-866              BC032336.1         1-827
            867-1072            BC032336.1         829-1034
            1073-3105           AC132808.2         179503-181535       c
FEATURES             Location/Qualifiers
     source          1..3105
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p14.2"
     gene            1..3105
                     /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..808
                     /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 1 is encoded by transcript variant 2;
                     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 1"
                     /protein_id="NP_001159715.1"
                     /db_xref="CCDS:CCDS2894.1"
                     /db_xref="GeneID:2272"
                     /db_xref="HGNC:HGNC:3701"
                     /db_xref="MIM:601153"
                     /translation="MSFRFGQHLIKPSVVFLKTELSFALVNRKPVVPGHVLVCPLRPV
                     ERFHDLRPDEVADLFQTTQRVGTVVEKHFHGTSLTFSMQDGPEAGQTVKHVHVHVLPR
                     KAGDFHRNDSIYEELQKHDKEDFPASWRSEEEMAAEAAALRVYFQ"
     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..712
                     /gene="FHIT"
                     /gene_synonym="AP3Aase; FRA3B"
                     /inference="alignment:Splign:2.1.0"
     exon            713..813
                     /gene="FHIT"
                     /gene_synonym="AP3Aase; FRA3B"
                     /inference="alignment:Splign:2.1.0"
     exon            814..3105
                     /gene="FHIT"
                     /gene_synonym="AP3Aase; FRA3B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1049..1054
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FHIT"
                     /gene_synonym="AP3Aase; FRA3B"
                     /note="hexamer: ATTAAA"
     polyA_site      1072
                     /gene="FHIT"
                     /gene_synonym="AP3Aase; FRA3B"
                     /note="major polyA site"
     regulatory      3080..3085
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FHIT"
                     /gene_synonym="AP3Aase; FRA3B"
                     /note="hexamer: ATTAAA"
     polyA_site      3105
                     /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 aagcacgttc acgtccatgt
      661 tcttcccagg aaggctggag actttcacag gaatgacagc atctatgagg agctccagaa
      721 acatgacaag gaggactttc ctgcctcttg gagatcagag gaggaaatgg cagcagaagc
      781 cgcagctctg cgggtctact ttcagtgaca cagatcctga attccagcaa aagagctatt
      841 gccaaccagt ttgaagaccg ccccccgcct ctccccaaga ggaactgaat cagcatgaaa
      901 atgcagtttc ttcatctcac catcctgtat tcttcaacca gtgatccccc acctcggtca
      961 ctccaactcc cttaaaatac ctagacctaa acggctcaga caggcagatt tgaggtttcc
     1021 ccctgtctcc ttattcggca gccttatgat taaacttcct tctctgctgc aaccctgtgt
     1081 ctcggtgtat tgacttgcca tgaattaggc aacaaaccta ttacagttac agttactttt
     1141 ttaaaggaaa ttcaatcgtt ggattggtcc acctgcttat ttcttccctt ttcaaaaaaa
     1201 atgtctacat attgaatttt tatacattaa gtggttcatg aaacccctga aatgtgttag
     1261 taaatagggc aattatgaaa tatttggaca tagctagact ttaaaaattg ttaatctgaa
     1321 ggtcagatag acttggcctt ctccagcttt cgtgattatt ccctcagcag caagctagtc
     1381 ttaggcagag caagtttaaa gacattcatg gtgctcactc tgcaaaactg cacaattctc
     1441 aacatgcaca gaggcagaca tgatagggct cagccctgga attgataaca ctagccaaca
     1501 cacttgctaa gaatttataa gatgtagacc ctgttattat cctgtcttgc aagtgatgag
     1561 aaaactaagg cttaaggatg ttaagtatta ttagttcaag gccaacggta agtggcaaag
     1621 ctcagatttg aatccaggca gtcccaccct aaaggccatt ctcttagtct gtgtactgcc
     1681 ctccttgcta aaagagctca cctctctagc cacttccttc tccctgtccc atctcccctt
     1741 gtaccctcca aatagtcttc ttagcctctt caccttatct actggcctat ttctgccttg
     1801 aggacctccc acctcctcgc ctgctggact tcttccttac ctgccttgtt aatacaaccc
     1861 tgcccagcac ctgcctccct ggtcacacta cagccaggta gcagaaacca aaatgggcct
     1921 ggatttcccc aaccaacttg gttctacttg caagattctc agatcatgct gaatcctgcc
     1981 taggctaccc tcccactttc ttttctttac catctgacca catgcctaaa taaacatcac
     2041 ttgggcgaat acagtgttcc ccaaattgca ttcattccca ttttgtcatg atttttctta
     2101 tctttgtgga ccacctagag cattatttac ttgattcact ttttgaattt tagtatatat
     2161 atcttaaact ttatatttca gcctcaaaga aaaacaagta ctacctgtaa ttagaagtta
     2221 agcataaaaa taaacataag agaaaaacaa tgctgatgat ttccagctct gcatagttgc
     2281 ttgccttagc aactaggagt gagattcagt ctctgtgtta aaaagtgagg ctagccacca
     2341 ttagaggggc atttaattct agcaccaaac cgaaactctc catttggcat attcagaagg
     2401 attaaagaga ataacctact gagagattca atgtagatca cttaagatta tcttaaacag
     2461 gaatatgact gactcccaac tttggagaaa cagcagtgga ggccagatct taaacccaga
     2521 gcaagctggc tttagacttg cttcaaccct aaaccagtac tcctttccac ccacccacct
     2581 ccccccaacc cctgcaggca tatcaagaag acaaggtgca tgggggaaaa ccaaagagtc
     2641 agcttcccta gggctgatgg gtcaaatctc agtgcttgcc tctgacattt tgcttgccga
     2701 cagtctgtct tgaaaaccaa caggttgcaa agaagaatgt gaacacctat atccagagat
     2761 gccctatata agaataaaga ctataagacc aaaaagatgt tcttgactta atgtttgggg
     2821 tggacatacc tagttatacg atttggctgt ttccccaccc acatctcatc ttgaattgta
     2881 gctcccataa tccccacatg tcatgggagg gacccagtgg gaggtaactg aatcaagggg
     2941 gagggtcttt cccatgctgt tctcatgatt gatagtgatg gttttataaa ggacatttcc
     3001 cctgaatacg ctgtcttgcc tgctgccatg taagatgtgg ctttgctcct cttttgcctt
     3061 cctccatgat tgcgagtcca ttaaacctca ttcctttata aatta
//
