LOCUS       NM_019698               3544 bp    mRNA    linear   ROD 01-AUG-2024
DEFINITION  Mus musculus aldehyde dehydrogenase 18 family, member A1
            (Aldh18a1), transcript variant 1, mRNA.
ACCESSION   NM_019698
VERSION     NM_019698.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 3544)
  AUTHORS   Martinez-Mayer,J., Brinkmeier,M.L., O'Connell,S.P., Ukagwu,A.,
            Marti,M.A., Miras,M., Forclaz,M.V., Benzrihen,M.G., Cheung,L.Y.M.,
            Camper,S.A., Ellsworth,B.S., Raetzman,L.T., Perez-Millan,M.I. and
            Davis,S.W.
  TITLE     Knockout mice with pituitary malformations help identify human
            cases of hypopituitarism
  JOURNAL   Genome Med 16 (1), 75 (2024)
   PUBMED   38822427
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3544)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   3  (bases 1 to 3544)
  AUTHORS   Gehlen-Breitbach,S., Schmid,T., Frob,F., Rodrian,G., Weider,M.,
            Wegner,M. and Golz,L.
  TITLE     The Tip60/Ep400 chromatin remodeling complex impacts basic cellular
            functions in cranial neural crest-derived tissue during early
            orofacial development
  JOURNAL   Int J Oral Sci 15 (1), 16 (2023)
   PUBMED   37024457
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3544)
  AUTHORS   Stum,M.G., Tadenev,A.L.D., Seburn,K.L., Miers,K.E., Poon,P.P.,
            McMaster,C.R., Robinson,C., Kane,C., Silva,K.A., Cliften,P.F.,
            Sundberg,J.P., Reinholdt,L.G., John,S.W.M. and Burgess,R.W.
  TITLE     Genetic analysis of Pycr1 and Pycr2 in mice
  JOURNAL   Genetics 218 (1) (2021)
   PUBMED   33734376
REFERENCE   5  (bases 1 to 3544)
  AUTHORS   Liu,M., Wang,Y., Yang,C., Ruan,Y., Bai,C., Chu,Q., Cui,Y., Chen,C.,
            Ying,G. and Li,B.
  TITLE     Inhibiting both proline biosynthesis and lipogenesis
            synergistically suppresses tumor growth
  JOURNAL   J Exp Med 217 (3) (2020)
   PUBMED   31961917
REFERENCE   6  (bases 1 to 3544)
  AUTHORS   DiTommaso,T., Jones,L.K., Cottle,D.L., Gerdin,A.K., Vancollie,V.E.,
            Watt,F.M., Ramirez-Solis,R., Bradley,A., Steel,K.P., Sundberg,J.P.,
            White,J.K. and Smyth,I.M.
  CONSRTM   WTSI Mouse Genetics Program
  TITLE     Identification of genes important for cutaneous function revealed
            by a large scale reverse genetic screen in the mouse
  JOURNAL   PLoS Genet 10 (10), e1004705 (2014)
   PUBMED   25340873
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3544)
  AUTHORS   Levi,B.P., Yilmaz,O.H., Duester,G. and Morrison,S.J.
  TITLE     Aldehyde dehydrogenase 1a1 is dispensable for stem cell function in
            the mouse hematopoietic and nervous systems
  JOURNAL   Blood 113 (8), 1670-1680 (2009)
   PUBMED   18971422
REFERENCE   8  (bases 1 to 3544)
  AUTHORS   Li,H., Bishop,K.M. and O'Leary,D.D.
  TITLE     Potential target genes of EMX2 include Odz/Ten-M and other gene
            families with implications for cortical patterning
  JOURNAL   Mol Cell Neurosci 33 (2), 136-149 (2006)
   PUBMED   16919471
REFERENCE   9  (bases 1 to 3544)
  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   10 (bases 1 to 3544)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY126398.1, BB839822.1, AK151072.1 and AI509928.1.
            
            On Aug 14, 2009 this sequence version replaced NM_019698.1.
            
            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 :: AF056573.1, SRR1660819.175184.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164134, SAMN01164138
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 BY126398.1         1-4
            5-79                BB839822.1         2-76
            80-3526             AK151072.1         2-3448
            3527-3544           AI509928.1         295-312
FEATURES             Location/Qualifiers
     source          1..3544
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="19"
                     /map="19 34.25 cM"
     gene            1..3544
                     /gene="Aldh18a1"
                     /gene_synonym="2810433K04Rik; Pycs"
                     /note="aldehyde dehydrogenase 18 family, member A1"
                     /db_xref="GeneID:56454"
                     /db_xref="MGI:MGI:1888908"
     exon            1..154
                     /gene="Aldh18a1"
                     /gene_synonym="2810433K04Rik; Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            155..220
                     /gene="Aldh18a1"
                     /gene_synonym="2810433K04Rik; Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            221..336
                     /gene="Aldh18a1"
                     /gene_synonym="2810433K04Rik; Pycs"
                     /inference="alignment:Splign:2.1.0"
     CDS             249..2636
                     /gene="Aldh18a1"
                     /gene_synonym="2810433K04Rik; Pycs"
                     /EC_number="1.2.1.41"
                     /EC_number="2.7.2.11"
                     /note="isoform 1 is encoded by transcript variant 1;
                     pyrroline-5-carboxylate synthetase (glutamate
                     gamma-semialdehyde synthetase);
                     delta-1-pyrroline-5-carboxylate synthetase;
                     delta-1-pyrroline-5-carboxylate synthase; P5CS; aldehyde
                     dehydrogenase family 18 member A1"
                     /codon_start=1
                     /product="delta-1-pyrroline-5-carboxylate synthase isoform
                     1"
                     /protein_id="NP_062672.2"
                     /db_xref="CCDS:CCDS29803.1"
                     /db_xref="GeneID:56454"
                     /db_xref="MGI:MGI:1888908"
                     /translation="MLRHMHRSGVQPFRQRLLPWVQSIAVPRSNRVQPSAIRHVRSWS
                     NIPFITVPLSRAHGKPFAHRSELKHAKRIVVKLGSAVVTRGDECGLALGRLASIVEQV
                     SVLQNQGREMMLVTSGAVAFGKQRLRHEILLSQSVRQALHSGQNHLKEMAIPVLEARA
                     CAAAGQSGLMALYEAMFTQYSICAAQILVTNLDFHDEQKRRNLNGTLHELLRMNIVPI
                     VNTNDAVVPPAEPNSDLQGVNVISVKDNDSLAARLAVEMKTDLLIVLSDVEGLFDSPP
                     GSDDAKLIDIFYPGDQQSVTFGTKSRVGLGGMEAKVKAALWALQGGTSVVIANGTHPK
                     VSGHVITDIVEGKKVGTFFSEVKPAGPTVEQQGEMARSGGRMLATLEPEQRAEIINHL
                     ADLLTDQREEILLANKKDLEEAEGRLASPLLKRLSLSTSKLNSLAIGLRQIAASSQES
                     VGRVLRRTRIAKNLELEQVTVPIGVLLVIFESRPDCLPQVAALAIASGNGLLLKGGKE
                     AAHSNRILHLLTQEALSIHGVKEAIQLVNTREEVEDLCRLDKIIDLIIPRGSSQLVRD
                     IQKAAKGIPVMGHSEGICHMYVDSEASVDKVTRLVRDSKCEYPAACNALETLLIHRDL
                     LRTPLFDQIIDMLRVEQVKIHAGPKFASYLTFSPSEVKSLRTEYGDLEVCIEVVDSVQ
                     EAIDHIHKYGSSHTDVIVTENEKTAEFFLQHVDSACVFWNASTRFSDGYRFGLGAEVG
                     ISTSRIHARGPVGLEGLLTTKWLLRGQDHVVSDFSEHGSLKYLHENLPVPQRNFS"
     exon            337..551
                     /gene="Aldh18a1"
                     /gene_synonym="2810433K04Rik; Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            552..701
                     /gene="Aldh18a1"
                     /gene_synonym="2810433K04Rik; Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            702..806
                     /gene="Aldh18a1"
                     /gene_synonym="2810433K04Rik; Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            807..965
                     /gene="Aldh18a1"
                     /gene_synonym="2810433K04Rik; Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            966..1056
                     /gene="Aldh18a1"
                     /gene_synonym="2810433K04Rik; Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            1057..1181
                     /gene="Aldh18a1"
                     /gene_synonym="2810433K04Rik; Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            1182..1326
                     /gene="Aldh18a1"
                     /gene_synonym="2810433K04Rik; Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            1327..1400
                     /gene="Aldh18a1"
                     /gene_synonym="2810433K04Rik; Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            1401..1494
                     /gene="Aldh18a1"
                     /gene_synonym="2810433K04Rik; Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            1495..1715
                     /gene="Aldh18a1"
                     /gene_synonym="2810433K04Rik; Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            1716..1853
                     /gene="Aldh18a1"
                     /gene_synonym="2810433K04Rik; Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            1854..2049
                     /gene="Aldh18a1"
                     /gene_synonym="2810433K04Rik; Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            2050..2171
                     /gene="Aldh18a1"
                     /gene_synonym="2810433K04Rik; Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            2172..2358
                     /gene="Aldh18a1"
                     /gene_synonym="2810433K04Rik; Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            2359..2454
                     /gene="Aldh18a1"
                     /gene_synonym="2810433K04Rik; Pycs"
                     /inference="alignment:Splign:2.1.0"
     exon            2455..3527
                     /gene="Aldh18a1"
                     /gene_synonym="2810433K04Rik; Pycs"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3505..3510
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Aldh18a1"
                     /gene_synonym="2810433K04Rik; Pycs"
                     /note="hexamer: AATAAA"
     polyA_site      3527
                     /gene="Aldh18a1"
                     /gene_synonym="2810433K04Rik; Pycs"
                     /note="major polyA site"
ORIGIN      
        1 ggtcagaccc gtctcccaac gtcagcggcg ctacggggct tcagtctaac gcggctgacg
       61 caactccgga gagctggacg tagacggaag aaaaggcgga ggagagggcg gtcgccgcga
      121 agagtggtcc agggctgggg tcggcggcca gcaggtactc ctgagcacta acacatacac
      181 acaaggattt ggacaatagc caccagtctt agcagaacag gtgtttggat ttgtgacaac
      241 atctcaacat gctgagacac atgcaccgct ctggggtcca gcccttcagg caacgtcttc
      301 taccatgggt ccagtccata gctgtgccca gatcaaatcg tgtccagccc tcagctatta
      361 gacatgttcg ttcttggagc aacatcccct ttatcacggt acccctcagt cgtgcccacg
      421 gcaagccctt tgcccaccga agtgagctga agcacgccaa gagaattgta gtgaaactcg
      481 gcagtgccgt ggtgaccaga ggagatgagt gtggcctggc actgggacgc ctggcatcta
      541 ttgttgaaca ggtctcggtg ctgcagaatc agggccgaga gatgatgctg gtgaccagtg
      601 gagccgtcgc cttcggcaaa cagcgcctgc gccatgagat ccttctgtct cagagcgtgc
      661 ggcaagccct gcactcagga cagaaccatc tgaaggagat ggcaattccg gtcttagagg
      721 cccgagcctg tgcagctgct ggacagagtg gactgatggc cttgtacgag gccatgttta
      781 cacagtacag catctgtgct gcccagatct tggtgaccaa cctggatttc cacgacgagc
      841 agaagcgcag aaatctcaac ggtaccctcc acgagctgct ccgcatgaac atcgtcccca
      901 tcgtcaacac aaacgatgcc gtcgtccctc cagccgagcc caacagtgat cttcaggggg
      961 taaatgtgat tagtgttaag gataatgata gcctggctgc ccggctggcc gtggagatga
     1021 aaaccgacct cttgattgtc ctctcggacg tagaaggcct ctttgacagc cccccaggct
     1081 cagatgatgc aaagctcatt gatatattct atccgggaga tcagcagtct gtgacatttg
     1141 gaaccaagtc tagagtgggc ctagggggca tggaagccaa ggtgaaagcc gccctctggg
     1201 ctttgcaagg cgggacttct gtcgtcattg ccaacgggac ccacccaaag gtgtctgggc
     1261 acgtcatcac agacatcgtg gagggaaaga aagttggcac cttcttttca gaagtgaagc
     1321 ctgctggtcc tacagtggag cagcaggggg agatggctcg atctggtggg agaatgctgg
     1381 ctaccttaga gcctgaacag agagctgaaa ttatcaatca tctggctgac ctgctgacgg
     1441 accagcggga agagatcctg ttagccaaca aaaaagattt ggaggaggca gagggaagac
     1501 ttgccagccc cctgctgaag cgccttagcc tctccacgtc caaactgaac agcctggcca
     1561 tcgggctgcg gcagatcgca gcctcctcac aagagagcgt aggccgcgtc ctgcgccgga
     1621 ctcggattgc caaaaacctg gagttagaac aagtgactgt cccaataggt gttttactgg
     1681 tgatctttga gtctcgccct gactgtctac cccaggtggc agccttggct attgccagtg
     1741 gcaatggctt gttgctcaaa ggtgggaagg aggccgcaca cagcaaccgc attcttcacc
     1801 tcctgaccca ggaggccctc tccatccacg gagtcaagga ggccatacag ctggtaaaca
     1861 ccagagaaga agttgaggat ctctgccgcc ttgacaaaat aatagatctg atcattcccc
     1921 gaggctcctc ccagctggtc agagacatcc agaaagctgc caaagggatc ccagtgatgg
     1981 gccacagcga aggcatctgc cacatgtacg tggattccga agccagcgtg gacaaggtca
     2041 cccgactcgt cagagactct aaatgtgaat acccagccgc ctgtaatgcc ctggagacgt
     2101 tgcttatcca ccgagatctg ctgagaacac ccttatttga ccagatcatt gacatgctcc
     2161 gagtggaaca ggtaaaaatt cacgcaggcc ccaagtttgc ctcctacctg accttcagcc
     2221 cctcagaagt gaagtcactc cggacggagt acggggacct ggaagtgtgc attgaagtgg
     2281 tggacagcgt ccaggaagcc attgatcaca tccataagta cggcagctct cacacagatg
     2341 tcatcgtcac agagaacgag aaaacagcgg agttcttcct ccagcacgtg gacagcgcct
     2401 gtgtcttctg gaacgccagt actcgcttct ctgatggtta ccgctttgga ctgggagctg
     2461 aagttggaat cagcacatct cgaatccacg cccggggacc agtaggactt gagggattgc
     2521 taactacaaa gtggttgctt cgagggcaag accacgtggt ctcggacttc tccgagcatg
     2581 gaagcctcaa gtatcttcac gagaatctcc ctgttcccca gagaaatttc agctgagagg
     2641 tgccaggcag tcgggaccgt tgtgcgccgt ctggcacatg gaggctactc caggatctcc
     2701 agagagaacc tgatctcgtc cctcacttct tggaagggtc tgtcttctgg acagttcacc
     2761 tatgcttctg gctctcctca gcgtttccaa ccttagctaa tgttcacact ccattttggc
     2821 cttcttgggt gtgtctgtct ccgtaactgg ggttgaatct agggccttgc acatggtagg
     2881 caaatgctcc actgccaggc tgtctccctg gccctgcagt ccagtcctag gaagagaatc
     2941 gctgttggag acagagaggc ttggcttttc ccagtctgtt cacatcagag gtagacccta
     3001 agggacgcat ctaccatcag agacaatgga aagtcctggc tgccggaacg cctcagtgag
     3061 gtaaagtctc ttggcgtttt gactgggacc agcccagcca ttctcagcct ctcgacatgt
     3121 aatttcattt cttttacgaa agctcgtctt aaggagggct aactccttaa aacctttaac
     3181 attttcattg gaaacggtga ctgagacaga ctgactgtat ccactgggga gatgaccttg
     3241 gtgtgtctgt gaagttatgg gcgcacatcc tagacatctg cagtctgtct ccggcctggg
     3301 gacacatggt accttcaaag tagttggaat ctgagcatca cgctggaggg atgaatttca
     3361 ggatgttcct acaagtggga ggaagatcta caatcatgct tgaccttttt atacaaatta
     3421 ttttgacatc ctattctcga cctccaggac aaagactaga gattatttta atactttaga
     3481 ttctcccccc cccccttttt gagaaataaa attcttataa aagcccaaaa aaaaaaaaaa
     3541 aaaa
//
