LOCUS       NM_002012               3116 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens fragile histidine triad diadenosine triphosphatase
            (FHIT), transcript variant 1, mRNA.
ACCESSION   NM_002012
VERSION     NM_002012.4
KEYWORDS    RefSeq; MANE Select.
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 3116)
  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 3116)
  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 3116)
  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 3116)
  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 3116)
  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 3116)
  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 3116)
  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 3116)
  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 3116)
  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 3116)
  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, U46922.1 and
            AC132808.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_002012.3.
            
            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 (1) encodes the longest isoform
            (1). Variants 1-4 all encode the same 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 :: SRR1803617.10497.1,
                                           SRR1803613.101853.1 [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
            MANE Ensembl match                 :: ENST00000492590.6/
                                                  ENSP00000418582.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-220               DB477833.1         10-229
            221-877             U46922.1           219-875
            878-1083            U46922.1           877-1082
            1084-3116           AC132808.2         179503-181535       c
FEATURES             Location/Qualifiers
     source          1..3116
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p14.2"
     gene            1..3116
                     /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 1;
                     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_002003.1"
                     /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..3116
                     /gene="FHIT"
                     /gene_synonym="AP3Aase; FRA3B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1060..1065
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FHIT"
                     /gene_synonym="AP3Aase; FRA3B"
                     /note="hexamer: ATTAAA"
     polyA_site      1083
                     /gene="FHIT"
                     /gene_synonym="AP3Aase; FRA3B"
                     /note="major polyA site"
     regulatory      3091..3096
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FHIT"
                     /gene_synonym="AP3Aase; FRA3B"
                     /note="hexamer: ATTAAA"
     polyA_site      3116
                     /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 cagatgtttt tcagatcctg aattccagca
      841 aaagagctat tgccaaccag tttgaagacc gccccccgcc tctccccaag aggaactgaa
      901 tcagcatgaa aatgcagttt cttcatctca ccatcctgta ttcttcaacc agtgatcccc
      961 cacctcggtc actccaactc ccttaaaata cctagaccta aacggctcag acaggcagat
     1021 ttgaggtttc cccctgtctc cttattcggc agccttatga ttaaacttcc ttctctgctg
     1081 caaccctgtg tctcggtgta ttgacttgcc atgaattagg caacaaacct attacagtta
     1141 cagttacttt tttaaaggaa attcaatcgt tggattggtc cacctgctta tttcttccct
     1201 tttcaaaaaa aatgtctaca tattgaattt ttatacatta agtggttcat gaaacccctg
     1261 aaatgtgtta gtaaataggg caattatgaa atatttggac atagctagac tttaaaaatt
     1321 gttaatctga aggtcagata gacttggcct tctccagctt tcgtgattat tccctcagca
     1381 gcaagctagt cttaggcaga gcaagtttaa agacattcat ggtgctcact ctgcaaaact
     1441 gcacaattct caacatgcac agaggcagac atgatagggc tcagccctgg aattgataac
     1501 actagccaac acacttgcta agaatttata agatgtagac cctgttatta tcctgtcttg
     1561 caagtgatga gaaaactaag gcttaaggat gttaagtatt attagttcaa ggccaacggt
     1621 aagtggcaaa gctcagattt gaatccaggc agtcccaccc taaaggccat tctcttagtc
     1681 tgtgtactgc cctccttgct aaaagagctc acctctctag ccacttcctt ctccctgtcc
     1741 catctcccct tgtaccctcc aaatagtctt cttagcctct tcaccttatc tactggccta
     1801 tttctgcctt gaggacctcc cacctcctcg cctgctggac ttcttcctta cctgccttgt
     1861 taatacaacc ctgcccagca cctgcctccc tggtcacact acagccaggt agcagaaacc
     1921 aaaatgggcc tggatttccc caaccaactt ggttctactt gcaagattct cagatcatgc
     1981 tgaatcctgc ctaggctacc ctcccacttt cttttcttta ccatctgacc acatgcctaa
     2041 ataaacatca cttgggcgaa tacagtgttc cccaaattgc attcattccc attttgtcat
     2101 gatttttctt atctttgtgg accacctaga gcattattta cttgattcac tttttgaatt
     2161 ttagtatata tatcttaaac tttatatttc agcctcaaag aaaaacaagt actacctgta
     2221 attagaagtt aagcataaaa ataaacataa gagaaaaaca atgctgatga tttccagctc
     2281 tgcatagttg cttgccttag caactaggag tgagattcag tctctgtgtt aaaaagtgag
     2341 gctagccacc attagagggg catttaattc tagcaccaaa ccgaaactct ccatttggca
     2401 tattcagaag gattaaagag aataacctac tgagagattc aatgtagatc acttaagatt
     2461 atcttaaaca ggaatatgac tgactcccaa ctttggagaa acagcagtgg aggccagatc
     2521 ttaaacccag agcaagctgg ctttagactt gcttcaaccc taaaccagta ctcctttcca
     2581 cccacccacc tccccccaac ccctgcaggc atatcaagaa gacaaggtgc atgggggaaa
     2641 accaaagagt cagcttccct agggctgatg ggtcaaatct cagtgcttgc ctctgacatt
     2701 ttgcttgccg acagtctgtc ttgaaaacca acaggttgca aagaagaatg tgaacaccta
     2761 tatccagaga tgccctatat aagaataaag actataagac caaaaagatg ttcttgactt
     2821 aatgtttggg gtggacatac ctagttatac gatttggctg tttccccacc cacatctcat
     2881 cttgaattgt agctcccata atccccacat gtcatgggag ggacccagtg ggaggtaact
     2941 gaatcaaggg ggagggtctt tcccatgctg ttctcatgat tgatagtgat ggttttataa
     3001 aggacatttc ccctgaatac gctgtcttgc ctgctgccat gtaagatgtg gctttgctcc
     3061 tcttttgcct tcctccatga ttgcgagtcc attaaacctc attcctttat aaatta
//
