LOCUS       NM_001108524            3465 bp    mRNA    linear   ROD 31-MAR-2024
DEFINITION  Rattus norvegicus aldehyde dehydrogenase 18 family, member A1
            (Aldh18a1), transcript variant 1, mRNA.
ACCESSION   NM_001108524 XM_001057126 XM_006231345 XM_342048
VERSION     NM_001108524.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 3465)
  AUTHORS   Panza,E., Escamilla-Honrubia,J.M., Marco-Marin,C., Gougeard,N., De
            Michele,G., Morra,V.B., Liguori,R., Salviati,L., Donati,M.A.,
            Cusano,R., Pippucci,T., Ravazzolo,R., Nemeth,A.H., Smithson,S.,
            Davies,S., Hurst,J.A., Bordo,D., Rubio,V. and Seri,M.
  TITLE     ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9:
            loss of function effect and plausibility of a dominant negative
            mechanism
  JOURNAL   Brain 139 (Pt 1), e3 (2016)
   PUBMED   26297558
REFERENCE   2  (bases 1 to 3465)
  AUTHORS   Fischer-Zirnsak,B., Escande-Beillard,N., Ganesh,J., Tan,Y.X., Al
            Bughaili,M., Lin,A.E., Sahai,I., Bahena,P., Reichert,S.L., Loh,A.,
            Wright,G.D., Liu,J., Rahikkala,E., Pivnick,E.K., Choudhri,A.F.,
            Kruger,U., Zemojtel,T., van Ravenswaaij-Arts,C., Mostafavi,R.,
            Stolte-Dijkstra,I., Symoens,S., Pajunen,L., Al-Gazali,L.,
            Meierhofer,D., Robinson,P.N., Mundlos,S., Villarroel,C.E.,
            Byers,P., Masri,A., Robertson,S.P., Schwarze,U., Callewaert,B.,
            Reversade,B. and Kornak,U.
  TITLE     Recurrent De Novo Mutations Affecting Residue Arg138 of
            Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of
            Autosomal-Dominant Cutis Laxa
  JOURNAL   Am J Hum Genet 97 (3), 483-492 (2015)
   PUBMED   26320891
REFERENCE   3  (bases 1 to 3465)
  AUTHORS   Coutelier,M., Goizet,C., Durr,A., Habarou,F., Morais,S.,
            Dionne-Laporte,A., Tao,F., Konop,J., Stoll,M., Charles,P.,
            Jacoupy,M., Matusiak,R., Alonso,I., Tallaksen,C., Mairey,M.,
            Kennerson,M., Gaussen,M., Schule,R., Janin,M., Morice-Picard,F.,
            Durand,C.M., Depienne,C., Calvas,P., Coutinho,P., Saudubray,J.M.,
            Rouleau,G., Brice,A., Nicholson,G., Darios,F., Loureiro,J.L.,
            Zuchner,S., Ottolenghi,C., Mochel,F. and Stevanin,G.
  TITLE     Alteration of ornithine metabolism leads to dominant and recessive
            hereditary spastic paraplegia
  JOURNAL   Brain 138 (Pt 8), 2191-2205 (2015)
   PUBMED   26026163
REFERENCE   4  (bases 1 to 3465)
  AUTHORS   Fischer,B., Callewaert,B., Schroter,P., Coucke,P.J., Schlack,C.,
            Ott,C.E., Morroni,M., Homann,W., Mundlos,S., Morava,E.,
            Ficcadenti,A. and Kornak,U.
  TITLE     Severe congenital cutis laxa with cardiovascular manifestations due
            to homozygous deletions in ALDH18A1
  JOURNAL   Mol Genet Metab 112 (4), 310-316 (2014)
   PUBMED   24913064
REFERENCE   5  (bases 1 to 3465)
  AUTHORS   Handley,M.T., Megarbane,A., Meynert,A.M., Brown,S., Freyer,E.,
            Taylor,M.S., Jackson,I.J. and Aligianis,I.A.
  TITLE     Loss of ALDH18A1 function is associated with a cellular lipid
            droplet phenotype suggesting a link between autosomal recessive
            cutis laxa type 3A and Warburg Micro syndrome
  JOURNAL   Mol Genet Genomic Med 2 (4), 319-325 (2014)
   PUBMED   25077174
REFERENCE   6  (bases 1 to 3465)
  AUTHORS   Mootha,V.K., Bunkenborg,J., Olsen,J.V., Hjerrild,M.,
            Wisniewski,J.R., Stahl,E., Bolouri,M.S., Ray,H.N., Sihag,S.,
            Kamal,M., Patterson,N., Lander,E.S. and Mann,M.
  TITLE     Integrated analysis of protein composition, tissue diversity, and
            gene regulation in mouse mitochondria
  JOURNAL   Cell 115 (5), 629-640 (2003)
   PUBMED   14651853
REFERENCE   7  (bases 1 to 3465)
  AUTHORS   Baumgartner,M.R., Hu,C.A., Almashanu,S., Steel,G., Obie,C.,
            Aral,B., Rabier,D., Kamoun,P., Saudubray,J.M. and Valle,D.
  TITLE     Hyperammonemia with reduced ornithine, citrulline, arginine and
            proline: a new inborn error caused by a mutation in the gene
            encoding delta(1)-pyrroline-5-carboxylate synthase
  JOURNAL   Hum Mol Genet 9 (19), 2853-2858 (2000)
   PUBMED   11092761
REFERENCE   8  (bases 1 to 3465)
  AUTHORS   Hu,C.A., Lin,W.W., Obie,C. and Valle,D.
  TITLE     Molecular enzymology of mammalian Delta1-pyrroline-5-carboxylate
            synthase. Alternative splice donor utilization generates isoforms
            with different sensitivity to ornithine inhibition
  JOURNAL   J Biol Chem 274 (10), 6754-6762 (1999)
   PUBMED   10037775
REFERENCE   9  (bases 1 to 3465)
  AUTHORS   Henslee,J.G., Wakabayashi,Y., Small,C. and Jones,M.E.
  TITLE     Factors influencing pyrroline 5-carboxylate synthesis from
            glutamate by rat intestinal mucosa mitochondria
  JOURNAL   Arch Biochem Biophys 226 (2), 693-703 (1983)
   PUBMED   6139090
REFERENCE   10 (bases 1 to 3465)
  AUTHORS   Wakabayashi,Y., Henslee,J.G. and Jones,M.E.
  TITLE     Pyrroline-5-carboxylate synthesis from glutamate by rat intestinal
            mucosa. Subcellular localization and temperature stability
  JOURNAL   J Biol Chem 258 (6), 3873-3882 (1983)
   PUBMED   6131890
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            JAXUCZ010000001.1.
            
            On or before Jul 30, 2021 this sequence version replaced
            XM_006231345.3, NM_001108524.1.
            
            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 :: SRR26643289.4471.1,
                                           SRR26643293.8755.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA5760383,
                                           SAMEA5760386 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-138               JAXUCZ010000001.1  249357246-249357383 c
            139-254             JAXUCZ010000001.1  249354529-249354644 c
            255-469             JAXUCZ010000001.1  249348756-249348970 c
            470-619             JAXUCZ010000001.1  249347501-249347650 c
            620-724             JAXUCZ010000001.1  249347313-249347417 c
            725-883             JAXUCZ010000001.1  249343852-249344010 c
            884-974             JAXUCZ010000001.1  249343371-249343461 c
            975-1099            JAXUCZ010000001.1  249340520-249340644 c
            1100-1244           JAXUCZ010000001.1  249339335-249339479 c
            1245-1318           JAXUCZ010000001.1  249338636-249338709 c
            1319-1412           JAXUCZ010000001.1  249337075-249337168 c
            1413-1633           JAXUCZ010000001.1  249335235-249335455 c
            1634-1771           JAXUCZ010000001.1  249333157-249333294 c
            1772-1967           JAXUCZ010000001.1  249331334-249331529 c
            1968-2089           JAXUCZ010000001.1  249331106-249331227 c
            2090-2276           JAXUCZ010000001.1  249328422-249328608 c
            2277-2372           JAXUCZ010000001.1  249327342-249327437 c
            2373-3465           JAXUCZ010000001.1  249325082-249326174 c
FEATURES             Location/Qualifiers
     source          1..3465
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /strain="BN"
                     /db_xref="taxon:10116"
                     /chromosome="1"
                     /map="1q54"
     gene            1..3465
                     /gene="Aldh18a1"
                     /gene_synonym="Pycs"
                     /note="aldehyde dehydrogenase 18 family, member A1"
                     /db_xref="GeneID:361755"
                     /db_xref="RGD:1311431"
     exon            1..138
                     /gene="Aldh18a1"
                     /gene_synonym="Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            139..254
                     /gene="Aldh18a1"
                     /gene_synonym="Pycs"
                     /inference="alignment:Splign:2.1.0"
     CDS             167..2554
                     /gene="Aldh18a1"
                     /gene_synonym="Pycs"
                     /note="isoform 1 is encoded by transcript variant 1;
                     delta-1-pyrroline-5-carboxylate synthase;
                     pyrroline-5-carboxylate synthetase (glutamate
                     gamma-semialdehyde synthetase)"
                     /codon_start=1
                     /product="delta-1-pyrroline-5-carboxylate synthase isoform
                     1"
                     /protein_id="NP_001101994.1"
                     /db_xref="GeneID:361755"
                     /db_xref="RGD:1311431"
                     /translation="MLRHVQRSGLQPFSQRLLPWVQSIALPRSHRVQPSAIRHVRSWS
                     NIPFITVPLSRAHGKPFAHRSELKHAKRIVVKLGSAVVTRGDECGLALGRLASIVEQV
                     SVLQNQGREMMLVTSGAVAFGKQRLRHEILLSQSVRQALHSGQNHLKEMAIPVLEARA
                     CAAAGQSGLMALYEAMFTQYSICAAQILVTNLDFHDEQKRRNLNGTLHELLRMNIVPI
                     VNTNDAVVPPAEPNSDLQGVNVISVKDNDSLAARLAVEMKTDLLIVLSDVEGLFDSPP
                     GSDDAKLIDIFYPGDQQSVTFGTKSRVGLGGMEAKVKAALWALQGGTSVVIANGTHPK
                     VSGHVITDIVEGKKVGTFFSEVKPAGPTVEQQGEMARSGGRMLATLEPEQRAEIINHL
                     ADLLTDQREEILLANKKDLEEAEGRLAGPLLKRLSLSTSKLNSLAIGLRQIAASSQES
                     VGRVLRRTRIAKNLELEQVTVPIGVLLVIFESRPDCLPQVAALAIASGNGLLLKGGKE
                     AMHSNRILHLLTQEALSIHGVKEAIQLVNTREEVEDLCRLDKIIDLIIPRGSSQLVRD
                     IQKAAKGIPVMGHSEGICHMYVDSEASVDKVTRLVRDSKCEYPAACNALETLLIHRDL
                     LRTPLFDQIIDMLRVEQVKIHAGPKFASYLTFSPSEVKSLRTEYGDLEVCIEVVDSVQ
                     EAIDHIHKYGSSHTDVIVTENEKTAEFFLQHVDSACVFWNASTRFSDGYRFGLGAEVG
                     ISTSRIHARGPVGLEGLLTTKWLLRGQDHVVSDFSEHGRLKYLHENLPVPQRHFS"
     exon            255..469
                     /gene="Aldh18a1"
                     /gene_synonym="Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            470..619
                     /gene="Aldh18a1"
                     /gene_synonym="Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            620..724
                     /gene="Aldh18a1"
                     /gene_synonym="Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            725..883
                     /gene="Aldh18a1"
                     /gene_synonym="Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            884..974
                     /gene="Aldh18a1"
                     /gene_synonym="Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            975..1099
                     /gene="Aldh18a1"
                     /gene_synonym="Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            1100..1244
                     /gene="Aldh18a1"
                     /gene_synonym="Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            1245..1318
                     /gene="Aldh18a1"
                     /gene_synonym="Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            1319..1412
                     /gene="Aldh18a1"
                     /gene_synonym="Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            1413..1633
                     /gene="Aldh18a1"
                     /gene_synonym="Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            1634..1771
                     /gene="Aldh18a1"
                     /gene_synonym="Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            1772..1967
                     /gene="Aldh18a1"
                     /gene_synonym="Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            1968..2089
                     /gene="Aldh18a1"
                     /gene_synonym="Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            2090..2276
                     /gene="Aldh18a1"
                     /gene_synonym="Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            2277..2372
                     /gene="Aldh18a1"
                     /gene_synonym="Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            2373..3465
                     /gene="Aldh18a1"
                     /gene_synonym="Pycs"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 aacgtcagcg gcgctacggg ggttcagtgt aacgcagctg acgcaactcc ggagagccgg
       61 gacgtagacg gaagaaaagg cggaggagag ggcggctgcc ggggagagcg ggccagggct
      121 ggggtcggcg gccagcaggt gtttggattt gtgaccacat ctcaacatgt tgagacatgt
      181 gcaacgctcc gggctccagc ccttcagcca acgtctgcta ccgtgggtcc agtccatagc
      241 tctgcccaga tctcatcgcg tccagccttc agctattaga catgttcgtt cctggagcaa
      301 catccccttt atcacggtac ccctcagtcg tgctcatggc aagccctttg cccaccgaag
      361 cgagctgaag cacgccaaga gaattgtagt gaaactcggc agtgccgtgg tgaccagagg
      421 agatgagtgt ggcctggcac tggggcgcct ggcgtctatt gtcgaacagg tctcggtgct
      481 gcagaatcag ggccgagaga tgatgctggt gaccagtgga gcggtcgcct tcggcaagca
      541 gcgcctgcgc cacgagatcc ttctgtctca gagcgtgcgg caagccctgc actcaggaca
      601 gaaccatctg aaggagatgg caattccagt cttagaggcc cgagcctgcg cagccgctgg
      661 acagagtggg ctgatggcct tgtacgaggc catgtttaca cagtacagca tctgtgctgc
      721 ccagattttg gtgaccaacc tggatttcca cgacgagcag aagcgcagaa atctcaacgg
      781 cacactacac gagctgcttc ggatgaacat cgtccccatt gtcaacacca acgacgccgt
      841 tgtcccccca gctgagccca acagtgatct tcagggggta aatgtgatta gcgttaagga
      901 caacgatagc ctagctgccc gtctggccgt ggagatgaaa actgacctcc tgattgtcct
      961 ctcagatgtg gaaggcctct ttgacagccc cccaggctca gatgatgcaa aactcattga
     1021 tatattctac ccgggagatc agcagtctgt gacatttgga accaagtcta gagtgggcct
     1081 agggggcatg gaagccaagg tgaaagccgc cctctgggct ttgcaaggtg gcacttctgt
     1141 cgtcattgcc aacggaaccc accccaaggt gtctgggcac gtcatcacag acatcgtgga
     1201 gggaaagaaa gttggcacct tcttttcaga agtaaagcct gctggcccta cggtggagca
     1261 gcagggggag atggctcggt ctggagggag aatgctggcc accttagagc ctgaacagag
     1321 agctgaaatt atcaatcatc tggctgacct gctgacggac cagcgggaag agatcctgtt
     1381 agccaacaaa aaagacttgg aggaagcaga gggaagactt gcaggccccc tgctgaagcg
     1441 tctcagcctc tccacgtcta aactgaacag cctggccatc gggctgcggc agatcgcagc
     1501 ctcctctcag gagagcgtag gccgtgtcct gcgccggact cggattgcca aaaacctgga
     1561 gttagaacaa gtgactgtcc caataggtgt tttactggtg atctttgagt ctcgtcctga
     1621 ctgtctaccc caggtggcag ccttggccat tgcgagtggc aacggcttgt tgctcaaagg
     1681 cgggaaggag gctatgcaca gcaaccgcat tcttcacctc ctgacccagg aggccctctc
     1741 catccatgga gtcaaggagg ccatacagct ggtaaacacc agagaagaag tggaggatct
     1801 ctgccgcctg gacaaaataa ttgacctgat catccctcga ggctcctccc agctggtcag
     1861 agacatccag aaagctgcca aggggatccc agtgatgggc cacagcgaag ggatctgcca
     1921 catgtacgtg gattctgaag ccagtgtgga caaggtcacc cgacttgtca gagactccaa
     1981 atgtgagtac ccagctgcct gtaacgccct ggagactttg ctcatccacc gagatctgct
     2041 gagaacaccc ttatttgacc agatcattga catgctcaga gtggaacagg taaaaattca
     2101 cgcaggcccc aagtttgcct cctacctgac cttcagcccc tcagaagtga agtcactccg
     2161 gacagagtac ggggacctgg aagtgtgcat cgaagtggtg gacagcgtcc aggaagccat
     2221 tgatcacatc cataagtacg gcagctccca cacagatgtc atcgtcaccg agaacgagaa
     2281 aacagccgag ttcttcctcc agcatgtgga cagtgcctgc gtgttctgga acgccagtac
     2341 ccgcttctct gatggctacc gatttggact gggagctgaa gtaggaatca gtacatcacg
     2401 aatccatgcc cggggaccag taggactcga gggattgcta actactaagt ggttgcttcg
     2461 agggcaagac cacgtggtct cagacttctc agagcacgga aggctaaagt atcttcacga
     2521 gaacctccct gttccccaga ggcatttcag ctgagaggag ccagtcagtc aggactgttc
     2581 cgtgcagtct ggcacatgta ggccactcga ggatctccag agagaacctg atctcatccc
     2641 ccacttcttg gaagggtccg ccttctggac agttcaccta tgcttctggc tcaactcagc
     2701 ctgtccaacc ttagctaatg ttcacactcc attccggcct ccttgtgtgt gtctgtctct
     2761 gttactgggg ctgaatctgg ggcctggcac atgctaggca aatgatccac cgtcacacgt
     2821 ctccctggct ctgcagtcca gtctcaggaa gagaatcatt gtcagaggcg gaggcttggc
     2881 ttttcccagt ctgttcacac cacaggtaga gactaaggga cgcatctaac atcagagaca
     2941 atgggaagtc ctgtctgccg tgacacctca gtgagggagt ctctgggcgt ttgactgggc
     3001 cagccttgct ggtcctcagc ctctcgacat ggaattccat ctcttttatg tctgctcatc
     3061 ctcagaaggg gagactggga attcttaagg aagggtaact ccttaaaacc tttaacattt
     3121 tcattggaaa tggagactaa aacagaccga cctacatcca cggggagatg acctttgtgg
     3181 ctgtgaagtt atgggtgtac atcttctaca tctacagtct gtccctggcc tggggacaca
     3241 gggtaccttc aaggtaattg gaatctgagc atcacgctgg agggatgaat ttcaggatgt
     3301 ccctacaagt gggaggaaga tgggcaatta ttgcttgacc tttttacgtg aattattttg
     3361 tcatcctatt cttgacctcc tggacaaaga ctagagatta ttttaatact ttagattctt
     3421 tccccatttt ttgagaaata aagttcttac aaaagtccac atgca
//
