LOCUS       NM_012190               3064 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens aldehyde dehydrogenase 1 family member L1 (ALDH1L1),
            transcript variant 2, mRNA.
ACCESSION   NM_012190
VERSION     NM_012190.4
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 3064)
  AUTHORS   Sasaki,M., Yamamoto,K., Ueda,T., Irokawa,H., Takeda,K., Sekine,R.,
            Itoh,F., Tanaka,Y., Kuge,S. and Shibata,N.
  TITLE     One-carbon metabolizing enzyme ALDH1L1 influences mitochondrial
            metabolism through 5-aminoimidazole-4-carboxamide ribonucleotide
            accumulation and serine depletion, contributing to tumor
            suppression
  JOURNAL   Sci Rep 13 (1), 13486 (2023)
   PUBMED   37596270
  REMARK    GeneRIF: One-carbon metabolizing enzyme ALDH1L1 influences
            mitochondrial metabolism through 5-aminoimidazole-4-carboxamide
            ribonucleotide accumulation and serine depletion, contributing to
            tumor suppression.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3064)
  AUTHORS   Qu,Y., He,Y., Ruan,H., Qin,L. and Han,Z.
  TITLE     Abnormal downregulation of 10-formyltetrahydrofolate dehydrogenase
            promotes the progression of oral squamous cell carcinoma by
            activating PI3K/Akt/Rb pathway
  JOURNAL   Cancer Med 12 (5), 5781-5797 (2023)
   PUBMED   36336972
  REMARK    GeneRIF: Abnormal downregulation of 10-formyltetrahydrofolate
            dehydrogenase promotes the progression of oral squamous cell
            carcinoma by activating PI3K/Akt/Rb pathway.
REFERENCE   3  (bases 1 to 3064)
  AUTHORS   Krupenko,S.A., Cole,S.A., Hou,R., Haack,K., Laston,S., Mehta,N.R.,
            Comuzzie,A.G., Butte,N.F. and Voruganti,V.S.
  TITLE     Genetic variants in ALDH1L1 and GLDC influence the
            serine-to-glycine ratio in Hispanic children
  JOURNAL   Am J Clin Nutr 116 (2), 500-510 (2022)
   PUBMED   35460232
  REMARK    GeneRIF: Genetic variants in ALDH1L1 and GLDC influence the
            serine-to-glycine ratio in Hispanic children.
REFERENCE   4  (bases 1 to 3064)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   5  (bases 1 to 3064)
  AUTHORS   Krupenko,S.A.
  TITLE     FDH: an aldehyde dehydrogenase fusion enzyme in folate metabolism
  JOURNAL   Chem Biol Interact 178 (1-3), 84-93 (2009)
   PUBMED   18848533
  REMARK    Review article
REFERENCE   6  (bases 1 to 3064)
  AUTHORS   Oleinik,N.V. and Krupenko,S.A.
  TITLE     Ectopic expression of 10-formyltetrahydrofolate dehydrogenase in
            A549 cells induces G1 cell cycle arrest and apoptosis
  JOURNAL   Mol Cancer Res 1 (8), 577-588 (2003)
   PUBMED   12805405
  REMARK    GeneRIF: FDH antiproliferative effects on A549 cells include both
            G(1) cell cycle arrest and caspase-dependent apoptosis
REFERENCE   7  (bases 1 to 3064)
  AUTHORS   Krupenko,S.A. and Oleinik,N.V.
  TITLE     10-formyltetrahydrofolate dehydrogenase, one of the major folate
            enzymes, is down-regulated in tumor tissues and possesses
            suppressor effects on cancer cells
  JOURNAL   Cell Growth Differ 13 (5), 227-236 (2002)
   PUBMED   12065246
  REMARK    GeneRIF: down-regulation of FDH in tumors is proposed to be one of
            the cellular mechanisms that enhance proliferation.
REFERENCE   8  (bases 1 to 3064)
  AUTHORS   Hong,M., Lee,Y., Kim,J.W., Lim,J.S., Chang,S.Y., Lee,K.S.,
            Paik,S.G. and Choe,I.S.
  TITLE     Isolation and characterization of cDNA clone for human liver
            10-formyltetrahydrofolate dehydrogenase
  JOURNAL   Biochem Mol Biol Int 47 (3), 407-415 (1999)
   PUBMED   10204077
REFERENCE   9  (bases 1 to 3064)
  AUTHORS   Champion,K.M., Cook,R.J., Tollaksen,S.L. and Giometti,C.S.
  TITLE     Identification of a heritable deficiency of the folate-dependent
            enzyme 10-formyltetrahydrofolate dehydrogenase in mice
  JOURNAL   Proc Natl Acad Sci U S A 91 (24), 11338-11342 (1994)
   PUBMED   7972060
REFERENCE   10 (bases 1 to 3064)
  AUTHORS   Johlin,F.C., Swain,E., Smith,C. and Tephly,T.R.
  TITLE     Studies on the mechanism of methanol poisoning: purification and
            comparison of rat and human liver 10-formyltetrahydrofolate
            dehydrogenase
  JOURNAL   Mol Pharmacol 35 (6), 745-750 (1989)
   PUBMED   2733692
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC342268.1, AF052732.1,
            AC079848.16 and AK222694.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_012190.3.
            
            Summary: The protein encoded by this gene catalyzes the conversion
            of 10-formyltetrahydrofolate, nicotinamide adenine dinucleotide
            phosphate (NADP+), and water to tetrahydrofolate, NADPH, and carbon
            dioxide. The encoded protein belongs to the aldehyde dehydrogenase
            family. Loss of function or expression of this gene is associated
            with decreased apoptosis, increased cell motility, and cancer
            progression. There is an antisense transcript that overlaps on the
            opposite strand with this gene locus. Alternative splicing results
            in multiple transcript variants. [provided by RefSeq, Jun 2012].
            
            Transcript Variant: This variant (2) contains a distinct 5' UTR,
            lacks an in-frame portion of the 5' coding region, and initiates
            translation at an alternate in-frame downstream start codon,
            compared to variant 1. The resulting isoform (2) has a shorter
            N-terminus, compared to 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 :: AK222694.1, AB209299.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000393434.7/ ENSP00000377083.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                DC342268.1         216-240
            26-105              AF052732.1         1-80
            106-107             AC079848.16        52139-52140
            108-321             AF052732.1         84-297
            322-388             AC079848.16        74041-74107
            389-659             AF052732.1         365-635
            660-660             AC079848.16        75275-75275
            661-716             AF052732.1         637-692
            717-717             AC079848.16        77171-77171
            718-1147            AF052732.1         694-1123
            1148-1148           AC079848.16        85723-85723
            1149-1534           AF052732.1         1125-1510
            1535-1543           AC079848.16        97014-97022
            1544-1726           AF052732.1         1520-1702
            1727-1727           AC079848.16        101206-101206
            1728-1984           AF052732.1         1704-1960
            1985-2003           AC079848.16        108219-108237
            2004-2162           AF052732.1         1980-2138
            2163-2172           AC079848.16        118010-118019
            2173-2238           AF052732.1         2149-2214
            2239-2239           AC079848.16        119762-119762
            2240-2853           AF052732.1         2216-2829
            2854-2974           AC079848.16        128840-128960
            2975-3064           AK222694.1         2973-3062
FEATURES             Location/Qualifiers
     source          1..3064
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q21.3"
     gene            1..3064
                     /gene="ALDH1L1"
                     /gene_synonym="10-fTHF; 10-FTHFDH; FDH; FTHFD"
                     /note="aldehyde dehydrogenase 1 family member L1"
                     /db_xref="GeneID:10840"
                     /db_xref="HGNC:HGNC:3978"
                     /db_xref="MIM:600249"
     exon            1..111
                     /gene="ALDH1L1"
                     /gene_synonym="10-fTHF; 10-FTHFDH; FDH; FTHFD"
                     /inference="alignment:Splign:2.1.0"
     exon            112..261
                     /gene="ALDH1L1"
                     /gene_synonym="10-fTHF; 10-FTHFDH; FDH; FTHFD"
                     /inference="alignment:Splign:2.1.0"
     CDS             135..2843
                     /gene="ALDH1L1"
                     /gene_synonym="10-fTHF; 10-FTHFDH; FDH; FTHFD"
                     /EC_number="1.5.1.6"
                     /note="isoform 2 is encoded by transcript variant 2;
                     cytosolic 10-formyltetrahydrofolate dehydrogenase;
                     MER57B-ALDH1L1"
                     /codon_start=1
                     /product="cytosolic 10-formyltetrahydrofolate
                     dehydrogenase isoform 2"
                     /protein_id="NP_036322.2"
                     /db_xref="CCDS:CCDS3034.1"
                     /db_xref="GeneID:10840"
                     /db_xref="HGNC:HGNC:3978"
                     /db_xref="MIM:600249"
                     /translation="MKIAVIGQSLFGQEVYCHLRKEGHEVVGVFTVPDKDGKADPLGL
                     EAEKDGVPVFKYSRWRAKGQALPDVVAKYQALGAELNVLPFCSQFIPMEIISAPRHGS
                     IIYHPSLLPRHRGASAINWTLIHGDKKGGFSIFWADDGLDTGDLLLQKECEVLPDDTV
                     STLYNRFLFPEGIKGMVQAVRLIAEGKAPRLPQPEEGATYEGIQKKETAKINWDQPAE
                     AIHNWIRGNDKVPGAWTEACEQKLTFFNSTLNTSGLVPEGDALPIPGAHRPGVVTKAG
                     LILFGNDDKMLLVKNIQLEDGKMILASNFFKGAASSVLELTEAELVTAEAVRSVWQRI
                     LPKVLEVEDSTDFFKSGAASVDVVRLVEEVKELCDGLELENEDVYMASTFGDFIQLLV
                     RKLRGDDEEGECSIDYVEMAVNKRTVRMPHQLFIGGEFVDAEGAKTSETINPTDGSVI
                     CQVSLAQVTDVDKAVAAAKDAFENGRWGKISARDRGRLMYRLADLMEQHQEELATIEA
                     LDAGAVYTLALKTHVGMSIQTFRYFAGWCDKIQGSTIPINQARPNRNLTLTRKEPVGV
                     CGIIIPWNYPLMMLSWKTAACLAAGNTVVIKPAQVTPLTALKFAELTLKAGIPKGVVN
                     VLPGSGSLVGQRLSDHPDVRKIGFTGSTEVGKHIMKSCAISNVKKVSLELGGKSPLII
                     FADCDLNKAVQMGMSSVFFNKGENCIAAGRLFVEDSIHDEFVRRVVEEVRKMKVGNPL
                     DRDTDHGPQNHHAHLVKLMEYCQHGVKEGATLVCGGNQVPRPGFFFEPTVFTDVEDHM
                     FIAKEESFGPVMIISRFADGDLDAVLSRANATEFGLASGVFTRDINKALYVSDKLQAG
                     TVFVNTYNKTDVAAPFGGFKQSGFGKDLGEAALNEYLRVKTVTFEY"
     exon            262..496
                     /gene="ALDH1L1"
                     /gene_synonym="10-fTHF; 10-FTHFDH; FDH; FTHFD"
                     /inference="alignment:Splign:2.1.0"
     exon            497..662
                     /gene="ALDH1L1"
                     /gene_synonym="10-fTHF; 10-FTHFDH; FDH; FTHFD"
                     /inference="alignment:Splign:2.1.0"
     exon            663..764
                     /gene="ALDH1L1"
                     /gene_synonym="10-fTHF; 10-FTHFDH; FDH; FTHFD"
                     /inference="alignment:Splign:2.1.0"
     exon            765..854
                     /gene="ALDH1L1"
                     /gene_synonym="10-fTHF; 10-FTHFDH; FDH; FTHFD"
                     /inference="alignment:Splign:2.1.0"
     exon            855..992
                     /gene="ALDH1L1"
                     /gene_synonym="10-fTHF; 10-FTHFDH; FDH; FTHFD"
                     /inference="alignment:Splign:2.1.0"
     exon            993..1118
                     /gene="ALDH1L1"
                     /gene_synonym="10-fTHF; 10-FTHFDH; FDH; FTHFD"
                     /inference="alignment:Splign:2.1.0"
     exon            1119..1210
                     /gene="ALDH1L1"
                     /gene_synonym="10-fTHF; 10-FTHFDH; FDH; FTHFD"
                     /inference="alignment:Splign:2.1.0"
     exon            1211..1358
                     /gene="ALDH1L1"
                     /gene_synonym="10-fTHF; 10-FTHFDH; FDH; FTHFD"
                     /inference="alignment:Splign:2.1.0"
     exon            1359..1478
                     /gene="ALDH1L1"
                     /gene_synonym="10-fTHF; 10-FTHFDH; FDH; FTHFD"
                     /inference="alignment:Splign:2.1.0"
     exon            1479..1606
                     /gene="ALDH1L1"
                     /gene_synonym="10-fTHF; 10-FTHFDH; FDH; FTHFD"
                     /inference="alignment:Splign:2.1.0"
     exon            1607..1757
                     /gene="ALDH1L1"
                     /gene_synonym="10-fTHF; 10-FTHFDH; FDH; FTHFD"
                     /inference="alignment:Splign:2.1.0"
     exon            1758..1828
                     /gene="ALDH1L1"
                     /gene_synonym="10-fTHF; 10-FTHFDH; FDH; FTHFD"
                     /inference="alignment:Splign:2.1.0"
     exon            1829..1934
                     /gene="ALDH1L1"
                     /gene_synonym="10-fTHF; 10-FTHFDH; FDH; FTHFD"
                     /inference="alignment:Splign:2.1.0"
     exon            1935..2022
                     /gene="ALDH1L1"
                     /gene_synonym="10-fTHF; 10-FTHFDH; FDH; FTHFD"
                     /inference="alignment:Splign:2.1.0"
     exon            2023..2116
                     /gene="ALDH1L1"
                     /gene_synonym="10-fTHF; 10-FTHFDH; FDH; FTHFD"
                     /inference="alignment:Splign:2.1.0"
     exon            2117..2216
                     /gene="ALDH1L1"
                     /gene_synonym="10-fTHF; 10-FTHFDH; FDH; FTHFD"
                     /inference="alignment:Splign:2.1.0"
     exon            2217..2315
                     /gene="ALDH1L1"
                     /gene_synonym="10-fTHF; 10-FTHFDH; FDH; FTHFD"
                     /inference="alignment:Splign:2.1.0"
     exon            2316..2481
                     /gene="ALDH1L1"
                     /gene_synonym="10-fTHF; 10-FTHFDH; FDH; FTHFD"
                     /inference="alignment:Splign:2.1.0"
     exon            2482..2587
                     /gene="ALDH1L1"
                     /gene_synonym="10-fTHF; 10-FTHFDH; FDH; FTHFD"
                     /inference="alignment:Splign:2.1.0"
     exon            2588..2787
                     /gene="ALDH1L1"
                     /gene_synonym="10-fTHF; 10-FTHFDH; FDH; FTHFD"
                     /inference="alignment:Splign:2.1.0"
     exon            2788..3064
                     /gene="ALDH1L1"
                     /gene_synonym="10-fTHF; 10-FTHFDH; FDH; FTHFD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3044..3049
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDH1L1"
                     /gene_synonym="10-fTHF; 10-FTHFDH; FDH; FTHFD"
                     /note="hexamer: AATAAA"
     polyA_site      3064
                     /gene="ALDH1L1"
                     /gene_synonym="10-fTHF; 10-FTHFDH; FDH; FTHFD"
                     /note="major polyA site"
ORIGIN      
        1 acaggtccca cctcctggct cccaggacgg gtctgcacca acctcagttt cggggctgcg
       61 gctcacagaa gtctaacctg cccgggacgc ccgcaccaac tcctgcgcgc ggtccttcca
      121 accctcctgc taccatgaag attgcagtga ttggacagag cctgtttggc caggaagttt
      181 actgccacct gaggaaggag ggccacgaag tggtgggtgt gttcactgtt ccagacaagg
      241 atggaaaggc cgaccccctg ggtctggaag ctgagaagga tggagtgccg gtattcaagt
      301 actcccggtg gcgtgcaaaa ggacaggctt tgcctgatgt ggtggcaaaa taccaggctt
      361 tgggggccga gctcaacgtc ctgcccttct gcagccaatt catccccatg gagataatca
      421 gtgccccccg gcatggctcc atcatctatc acccgtcact gctccctagg caccgagggg
      481 cctcggccat caactggacc ctcattcacg gagataagaa aggggggttt tccatcttct
      541 gggcggatga tggtctggac accggagacc tgctgctgca gaaggagtgt gaggtgctcc
      601 cggacgacac cgtgagcacg ctgtacaacc gcttcctctt ccctgaaggc atcaaaggga
      661 tggtgcaggc cgtgaggctg atcgctgagg gcaaagcccc cagactccct cagcctgagg
      721 aaggagccac ctatgagggg attcagaaga aggagacagc caagatcaac tgggaccagc
      781 cggcagaggc cattcacaac tggatccgcg ggaacgacaa ggtgccggga gcctggacag
      841 aggcctgtga acagaaactg acatttttca actcaacgct gaacacttca ggcctggtgc
      901 ccgagggaga cgctttgccc atcccaggag cccatcggcc aggggtggtc accaaagcag
      961 gactcatcct ctttgggaat gatgacaaaa tgctgctggt gaagaatatt cagctggagg
     1021 atggcaaaat gatcctggcc tcgaacttct ttaagggggc agccagcagt gtccttgagc
     1081 tgacagaggc agagctggtt actgcggagg ctgtgcggag tgtttggcag cggatcctcc
     1141 ccaaagtcct ggaggttgaa gactccactg atttcttcaa gtcaggggcc gcgtctgtgg
     1201 acgttgtgag gctggtggag gaagtgaagg agctgtgtga tggcctggag ttagaaaatg
     1261 aagatgtgta catggcatcc acctttgggg acttcatcca gctgttagtg aggaagctgc
     1321 gaggggacga tgaggagggc gagtgcagca ttgactacgt ggaaatggca gtgaacaagc
     1381 gcactgtccg catgccccac cagctcttca ttggggggga gttcgtggat gccgagggcg
     1441 ccaagacctc tgagaccatc aatcccaccg atggaagtgt catctgccag gtatccctgg
     1501 cccaagtcac cgacgtcgac aaggcagtgg ccgcagccaa ggatgccttt gagaatggac
     1561 ggtgggggaa gatcagtgcg cgggaccggg gccggctgat gtacaggttg gcagatctca
     1621 tggagcagca ccaggaggag ctggccacca ttgaggccct ggatgcgggt gccgtctaca
     1681 cgctggccct gaagacccac gtgggcatgt ccatccagac cttccgctac tttgctggct
     1741 ggtgtgacaa gatccagggc tccaccatcc ccatcaacca ggccagaccc aaccgcaacc
     1801 tgaccttgac caggaaggag cctgttgggg tttgtggcat catcatcccc tggaactatc
     1861 ccctgatgat gctgtcctgg aagacagctg cctgcctggc tgccgggaac acagtggtga
     1921 tcaagcctgc tcaggtgacc ccactcacag ccttgaagtt tgcagagctg acattaaagg
     1981 ccggcattcc caaaggtgtg gttaacgtcc tcccaggatc tggctccctg gtcggccaga
     2041 gactctcaga ccatcctgat gtgaggaaaa tcgggttcac aggctccaca gaggtgggca
     2101 agcacatcat gaaaagctgt gccataagta acgtgaagaa ggtgtccctg gaactgggcg
     2161 ggaagtcacc cctcatcatc tttgctgact gtgacctcaa caaggctgtg cagatgggga
     2221 tgagttctgt tttcttcaac aaaggagaga attgcattgc agcaggccga ctctttgtgg
     2281 aggactccat tcatgatgag ttcgtgcgga gagtggtaga agaggtgcgg aagatgaagg
     2341 tgggcaaccc gctggacagg gacaccgacc acgggccgca gaatcaccat gcccaccttg
     2401 tgaagctgat ggagtactgc cagcatggcg tgaaggaagg ggccacactg gtctgcggcg
     2461 ggaatcaggt ccctcggcca gggttcttct ttgagccaac tgttttcaca gacgtggaag
     2521 accacatgtt catagccaag gaggagtcct tcgggcctgt catgatcatc tctcggtttg
     2581 ctgatgggga cttggatgcc gtgctgtctc gggccaatgc cacggaattt ggcctggctt
     2641 ctggtgtctt caccagggac atcaacaagg ccctgtatgt cagtgacaag ctccaggcag
     2701 gcactgtgtt tgtcaacacg tacaacaaga ccgacgtggc cgctcccttc ggaggattca
     2761 aacagtctgg atttggcaaa gatctaggag aggcggctct gaacgagtac ctgcgggtca
     2821 agacagtgac cttcgaatac tgaagaaagg tctttgtgag aagaaagtcc ctgcccctcc
     2881 ctcgtggctg gggccccctc cctcttgagc ctgggtgcac agcacctccc acctgggggg
     2941 ctagtggaag ccctcctgcc tgcacaccat gtctgcatct tggacgccct ctgtccagtc
     3001 agaagcagcc cttggctggg tgaggtgtgc ccctcccagg gagaataaag cttctgaaga
     3061 gaga
//
