LOCUS       NM_001243177            1640 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens aldolase, fructose-bisphosphate A (ALDOA), transcript
            variant 6, mRNA.
ACCESSION   NM_001243177
VERSION     NM_001243177.4
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 1640)
  AUTHORS   Xu,Z., Lv,C., Gao,J., Cui,Y., Liu,W., He,Z. and He,L.
  TITLE     LncRNA ACVR2B-as1 interacts with ALDOA to regulate the self-renewal
            and apoptosis of human spermatogonial stem cells by controlling
            glycolysis activity
  JOURNAL   Cell Mol Life Sci 81 (1), 391 (2024)
   PUBMED   39254854
  REMARK    GeneRIF: LncRNA ACVR2B-as1 interacts with ALDOA to regulate the
            self-renewal and apoptosis of human spermatogonial stem cells by
            controlling glycolysis activity.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1640)
  AUTHORS   Yeh,C.Y., Cai,H.Y., Kuo,H.H., Lin,Y.Y., He,Z.J., Cheng,H.C.,
            Yang,C.J., Huang,C.F. and Chang,Y.C.
  TITLE     ALDOA coordinates PDE3A through the beta-catenin/ID3 axis to
            stimulate cancer metastasis and M2 polarization in lung cancer with
            EGFR mutations
  JOURNAL   Biochem Biophys Res Commun 696, 149489 (2024)
   PUBMED   38244313
  REMARK    GeneRIF: ALDOA coordinates PDE3A through the beta-catenin/ID3 axis
            to stimulate cancer metastasis and M2 polarization in lung cancer
            with EGFR mutations.
REFERENCE   3  (bases 1 to 1640)
  AUTHORS   Zhou,J., Lei,N., Qin,B., Chen,M., Gong,S., Sun,H., Qiu,L., Wu,F.,
            Guo,R., Ma,Q., Li,Y. and Chang,L.
  TITLE     Aldolase A promotes cervical cancer cell radioresistance by
            regulating the glycolysis and DNA damage after irradiation
  JOURNAL   Cancer Biol Ther 24 (1), 2287128 (2023)
   PUBMED   38010897
  REMARK    GeneRIF: Aldolase A promotes cervical cancer cell radioresistance
            by regulating the glycolysis and DNA damage after irradiation.
REFERENCE   4  (bases 1 to 1640)
  AUTHORS   Mukai,T., Arai,Y., Yatsuki,H., Joh,K. and Hori,K.
  TITLE     An additional promoter functions in the human aldolase A gene, but
            not in rat
  JOURNAL   Eur J Biochem 195 (3), 781-787 (1991)
   PUBMED   1999195
REFERENCE   5  (bases 1 to 1640)
  AUTHORS   Izzo,P., Costanzo,P., Lupo,A., Rippa,E., Paolella,G. and
            Salvatore,F.
  TITLE     Human aldolase A gene. Structural organization and tissue-specific
            expression by multiple promoters and alternate mRNA processing
  JOURNAL   Eur J Biochem 174 (4), 569-578 (1988)
   PUBMED   3391172
REFERENCE   6  (bases 1 to 1640)
  AUTHORS   Kishi,H., Mukai,T., Hirono,A., Fujii,H., Miwa,S. and Hori,K.
  TITLE     Human aldolase A deficiency associated with a hemolytic anemia:
            thermolabile aldolase due to a single base mutation
  JOURNAL   Proc Natl Acad Sci U S A 84 (23), 8623-8627 (1987)
   PUBMED   2825199
REFERENCE   7  (bases 1 to 1640)
  AUTHORS   Maire,P., Gautron,S., Hakim,V., Gregori,C., Mennecier,F. and
            Kahn,A.
  TITLE     Characterization of three optional promoters in the 5' region of
            the human aldolase A gene
  JOURNAL   J Mol Biol 197 (3), 425-438 (1987)
   PUBMED   3441006
REFERENCE   8  (bases 1 to 1640)
  AUTHORS   Sakakibara,M., Mukai,T. and Hori,K.
  TITLE     Nucleotide sequence of a cDNA clone for human aldolase: a messenger
            RNA in the liver
  JOURNAL   Biochem Biophys Res Commun 131 (1), 413-420 (1985)
   PUBMED   3840020
REFERENCE   9  (bases 1 to 1640)
  AUTHORS   Rehbein-Thoner,M. and Pfleiderer,G.
  TITLE     The changes in aldolase isoenzyme pattern during development of the
            human kidney and small intestine--demonstrated in organ extracts
            and tissue sections
  JOURNAL   Hoppe Seylers Z Physiol Chem 358 (2), 169-180 (1977)
   PUBMED   844801
REFERENCE   10 (bases 1 to 1640)
  AUTHORS   Pfleiderer,G., Thoner,M. and Wachsmuth,E.D.
  TITLE     Histological examination of the aldolase monomer composition of
            cells from human kidney and hypernephroid carcinoma
  JOURNAL   Beitr Pathol 156 (3), 266-279 (1975)
   PUBMED   766744
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA138954.1, AK301993.1 and
            AC093512.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 14, 2020 this sequence version replaced NM_001243177.3.
            
            Summary: This gene encodes a member of the class I
            fructose-bisphosphate aldolase protein family. The encoded protein
            is a glycolytic enzyme that catalyzes the reversible conversion of
            fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and
            dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C),
            encoded by three different genes, are differentially expressed
            during development. Mutations in this gene have been associated
            with Glycogen Storage Disease XII, an autosomal recessive disorder
            associated with hemolytic anemia. Disruption of this gene also
            plays a role in the progression of multiple types of cancers.
            Related pseudogenes have been identified on chromosomes 3 and 10.
            [provided by RefSeq, Sep 2017].
            
            Transcript Variant: This variant (6) differs in the 5' UTR and 5'
            coding region, and uses an alternate start codon, compared to
            variant 1. The resulting isoform (2) is longer at the N-terminus,
            compared to isoform 1.
            
            Sequence Note:.
            
            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 :: SRR14038192.3897261.1,
                                           SRR14038193.815412.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000642816.3/ ENSP00000496166.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-101               DA138954.1         88-188
            102-1637            AK301993.1         1-1536
            1638-1640           AC093512.2         138462-138464
FEATURES             Location/Qualifiers
     source          1..1640
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..1640
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12; HEL-S-87p"
                     /note="aldolase, fructose-bisphosphate A"
                     /db_xref="GeneID:226"
                     /db_xref="HGNC:HGNC:414"
                     /db_xref="MIM:103850"
     exon            1..168
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12; HEL-S-87p"
                     /inference="alignment:Splign:2.1.0"
     exon            169..322
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12; HEL-S-87p"
                     /inference="alignment:Splign:2.1.0"
     CDS             182..1438
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12; HEL-S-87p"
                     /EC_number="4.1.2.13"
                     /note="isoform 2 is encoded by transcript variant 6;
                     fructose-1,6-bisphosphate triosephosphate-lyase;
                     muscle-type aldolase; lung cancer antigen NY-LU-1;
                     epididymis secretory sperm binding protein Li 87p;
                     aldolase A, fructose-bisphosphate"
                     /codon_start=1
                     /product="fructose-bisphosphate aldolase A isoform 2"
                     /protein_id="NP_001230106.1"
                     /db_xref="CCDS:CCDS58450.1"
                     /db_xref="GeneID:226"
                     /db_xref="HGNC:HGNC:414"
                     /db_xref="MIM:103850"
                     /translation="MARRKPEGSSFNMTHLSMAMAFSFPPVASGQLHPQLGNTQHQTE
                     LGKELATTSTMPYQYPALTPEQKKELSDIAHRIVAPGKGILAADESTGSIAKRLQSIG
                     TENTEENRRFYRQLLLTADDRVNPCIGGVILFHETLYQKADDGRPFPQVIKSKGGVVG
                     IKVDKGVVPLAGTNGETTTQGLDGLSERCAQYKKDGADFAKWRCVLKIGEHTPSALAI
                     MENANVLARYASICQQNGIVPIVEPEILPDGDHDLKRCQYVTEKVLAAVYKALSDHHI
                     YLEGTLLKPNMVTPGHACTQKFSHEEIAMATVTALRRTVPPAVTGITFLSGGQSEEEA
                     SINLNAINKCPLLKPWALTFSYGRALQASALKAWGGKKENLKAAQEEYVKRALANSLA
                     CQGKYTPSGQAGAAASESLFVSNHAY"
     exon            323..455
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12; HEL-S-87p"
                     /inference="alignment:Splign:2.1.0"
     exon            456..667
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12; HEL-S-87p"
                     /inference="alignment:Splign:2.1.0"
     exon            668..722
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12; HEL-S-87p"
                     /inference="alignment:Splign:2.1.0"
     exon            723..883
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12; HEL-S-87p"
                     /inference="alignment:Splign:2.1.0"
     exon            884..967
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12; HEL-S-87p"
                     /inference="alignment:Splign:2.1.0"
     exon            968..1142
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12; HEL-S-87p"
                     /inference="alignment:Splign:2.1.0"
     exon            1143..1342
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12; HEL-S-87p"
                     /inference="alignment:Splign:2.1.0"
     exon            1343..1640
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12; HEL-S-87p"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1618..1623
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12; HEL-S-87p"
                     /note="hexamer: AATAAA"
     polyA_site      1640
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12; HEL-S-87p"
                     /note="major polyA site"
ORIGIN      
        1 gcccgcctcc tgcgccgccc cttccgaggc taaatcggct gcgttcctct cggaacgcgc
       61 cgcagaaggg gtcctggtga cgagtcccgc gttctctcct tgaatccact cgccagcccg
      121 ccgccctctg ccgccgcacc ctgcacaccc gcccctctcc tgtgccaggc aaggtgaccc
      181 catggcaagg cgcaagccag aagggtccag cttcaacatg acccacctgt ccatggctat
      241 ggccttttcc tttcccccag ttgccagtgg gcaactccac cctcagctgg gcaacaccca
      301 gcaccagaca gagttaggaa aggaacttgc tactaccagc accatgccct accaatatcc
      361 agcactgacc ccggagcaga agaaggagct gtctgacatc gctcaccgca tcgtggcacc
      421 tggcaagggc atcctggctg cagatgagtc cactgggagc attgccaagc ggctgcagtc
      481 cattggcacc gagaacaccg aggagaaccg gcgcttctac cgccagctgc tgctgacagc
      541 tgacgaccgc gtgaacccct gcattggggg tgtcatcctc ttccatgaga cactctacca
      601 gaaggcggat gatgggcgtc ccttccccca agttatcaaa tccaagggcg gtgttgtggg
      661 catcaaggta gacaagggcg tggtccccct ggcagggaca aatggcgaga ctaccaccca
      721 agggttggat gggctgtctg agcgctgtgc ccagtacaag aaggacggag ctgacttcgc
      781 caagtggcgt tgtgtgctga agattgggga acacaccccc tcagccctcg ccatcatgga
      841 aaatgccaat gttctggccc gttatgccag tatctgccag cagaatggca ttgtgcccat
      901 cgtggagcct gagatcctcc ctgatgggga ccatgacttg aagcgctgcc agtatgtgac
      961 cgagaaggtg ctggctgctg tctacaaggc tctgagtgac caccacatct acctggaagg
     1021 caccttgctg aagcccaaca tggtcacccc aggccatgct tgcactcaga agttttctca
     1081 tgaggagatt gccatggcga ccgtcacagc gctgcgccgc acagtgcccc ccgctgtcac
     1141 tgggatcacc ttcctgtctg gaggccagag tgaggaggag gcgtccatca acctcaatgc
     1201 cattaacaag tgccccctgc tgaagccctg ggccctgacc ttctcctacg gccgagccct
     1261 gcaggcctct gccctgaagg cctggggcgg gaagaaggag aacctgaagg ctgcgcagga
     1321 ggagtatgtc aagcgagccc tggccaacag ccttgcctgt caaggaaagt acactccgag
     1381 cggtcaggct ggggctgctg ccagcgagtc cctcttcgtc tctaaccacg cctattaagc
     1441 ggaggtgttc ccaggctgcc cccaacactc caggccctgc cccctcccac tcttgaagag
     1501 gaggccgcct cctcggggct ccaggctggc ttgcccgcgc tctttcttcc ctcgtgacag
     1561 tggtgtgtgg tgtcgtctgt gaatgctaag tccatcaccc tttccggcac actgccaaat
     1621 aaacagctat ttaaggggga
//
