LOCUS       NM_022568               2534 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens aldehyde dehydrogenase 8 family member A1 (ALDH8A1),
            transcript variant 1, mRNA.
ACCESSION   NM_022568
VERSION     NM_022568.4
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 2534)
  AUTHORS   Davis,I., Yang,Y., Wherritt,D. and Liu,A.
  TITLE     Reassignment of the human aldehyde dehydrogenase ALDH8A1 (ALDH12)
            to the kynurenine pathway in tryptophan catabolism
  JOURNAL   J Biol Chem 293 (25), 9594-9603 (2018)
   PUBMED   29703752
REFERENCE   2  (bases 1 to 2534)
  AUTHORS   Wojczynski,M.K., Li,M., Bielak,L.F., Kerr,K.F., Reiner,A.P.,
            Wong,N.D., Yanek,L.R., Qu,L., White,C.C., Lange,L.A.,
            Ferguson,J.F., He,J., Young,T., Mosley,T.H., Smith,J.A., Kral,B.G.,
            Guo,X., Wong,Q., Ganesh,S.K., Heckbert,S.R., Griswold,M.E.,
            O'Leary,D.H., Budoff,M., Carr,J.J., Taylor,H.A. Jr., Bluemke,D.A.,
            Demissie,S., Hwang,S.J., Paltoo,D.N., Polak,J.F., Psaty,B.M.,
            Becker,D.M., Province,M.A., Post,W.S., O'Donnell,C.J., Wilson,J.G.,
            Harris,T.B., Kavousi,M., Cupples,L.A., Rotter,J.I., Fornage,M.,
            Becker,L.C., Peyser,P.A., Borecki,I.B. and Reilly,M.P.
  TITLE     Genetics of coronary artery calcification among African Americans,
            a meta-analysis
  JOURNAL   BMC Med Genet 14, 75 (2013)
   PUBMED   23870195
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2534)
  AUTHORS   Saito,A., Kawamoto,M. and Kamatani,N.
  TITLE     Association study between single-nucleotide polymorphisms in 199
            drug-related genes and commonly measured quantitative traits of 752
            healthy Japanese subjects
  JOURNAL   J Hum Genet 54 (6), 317-323 (2009)
   PUBMED   19343046
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 2534)
  AUTHORS   Gonzales,P.A., Pisitkun,T., Hoffert,J.D., Tchapyjnikov,D.,
            Star,R.A., Kleta,R., Wang,N.S. and Knepper,M.A.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   5  (bases 1 to 2534)
  AUTHORS   Lin,M. and Napoli,J.L.
  TITLE     cDNA cloning and expression of a human aldehyde dehydrogenase
            (ALDH) active with 9-cis-retinal and identification of a rat
            ortholog, ALDH12
  JOURNAL   J Biol Chem 275 (51), 40106-40112 (2000)
   PUBMED   11007799
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF303134.1, BX647324.1 and
            BF590409.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_022568.3.
            
            Summary: This gene encodes a member of the aldehyde dehydrogenase
            family of proteins. The encoded protein has been implicated in the
            synthesis of 9-cis-retinoic acid and in the breakdown of the amino
            acid tryptophan. This enzyme converts 9-cis-retinal into the
            retinoid X receptor ligand 9-cis-retinoic acid, and has
            approximately 40-fold higher activity with 9-cis-retinal than with
            all-trans-retinal. In addition, this enzyme has been shown to
            catalyze the conversion of 2-aminomuconic semialdehyde to
            2-aminomuconate in the kynurenine pathway of tryptophan catabolism.
            [provided by RefSeq, Jul 2018].
            
            Transcript Variant: This variant (1) represents the longer
            transcript, and encodes the longer protein (isoform 1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF303134.1, ERR279862.3397.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155590 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000265605.7/ ENSP00000265605.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1562              AF303134.1         13-1574
            1563-2527           BX647324.1         1165-2129
            2528-2534           BF590409.1         13-19               c
FEATURES             Location/Qualifiers
     source          1..2534
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q23.3"
     gene            1..2534
                     /gene="ALDH8A1"
                     /gene_synonym="ALDH12; DJ352A20.2"
                     /note="aldehyde dehydrogenase 8 family member A1"
                     /db_xref="GeneID:64577"
                     /db_xref="HGNC:HGNC:15471"
                     /db_xref="MIM:606467"
     exon            1..186
                     /gene="ALDH8A1"
                     /gene_synonym="ALDH12; DJ352A20.2"
                     /inference="alignment:Splign:2.1.0"
     CDS             49..1512
                     /gene="ALDH8A1"
                     /gene_synonym="ALDH12; DJ352A20.2"
                     /EC_number="1.2.1.32"
                     /note="isoform 1 is encoded by transcript variant 1;
                     aldehyde dehydrogenase 12; aldehyde dehydrogenase family
                     protein; 2-aminomuconic semialdehyde dehydrogenase"
                     /codon_start=1
                     /product="2-aminomuconic semialdehyde dehydrogenase
                     isoform 1"
                     /protein_id="NP_072090.1"
                     /db_xref="CCDS:CCDS5171.1"
                     /db_xref="GeneID:64577"
                     /db_xref="HGNC:HGNC:15471"
                     /db_xref="MIM:606467"
                     /translation="MAGTNALLMLENFIDGKFLPCSSYIDSYDPSTGEVYCRVPNSGK
                     DEIEAAVKAAREAFPSWSSRSPQERSRVLNQVADLLEQSLEEFAQAESKDQGKTLALA
                     RTMDIPRSVQNFRFFASSSLHHTSECTQMDHLGCMHYTVRAPVGVAGLISPWNLPLYL
                     LTWKIAPAMAAGNTVIAKPSELTSVTAWMLCKLLDKAGVPPGVVNIVFGTGPRVGEAL
                     VSHPEVPLISFTGSQPTAERITQLSAPHCKKLSLELGGKNPAIIFEDANLDECIPATV
                     RSSFANQGEICLCTSRIFVQKSIYSEFLKRFVEATRKWKVGIPSDPLVSIGALISKAH
                     LEKVRSYVKRALAEGAQIWCGEGVDKLSLPARNQAGYFMLPTVITDIKDESCCMTEEI
                     FGPVTCVVPFDSEEEVIERANNVKYGLAATVWSSNVGRVHRVAKKLQSGLVWTNCWLI
                     RELNLPFGGMKSSGIGREGAKDSYDFFTEIKTITVKH"
     exon            187..334
                     /gene="ALDH8A1"
                     /gene_synonym="ALDH12; DJ352A20.2"
                     /inference="alignment:Splign:2.1.0"
     exon            335..490
                     /gene="ALDH8A1"
                     /gene_synonym="ALDH12; DJ352A20.2"
                     /inference="alignment:Splign:2.1.0"
     exon            491..640
                     /gene="ALDH8A1"
                     /gene_synonym="ALDH12; DJ352A20.2"
                     /inference="alignment:Splign:2.1.0"
     exon            641..897
                     /gene="ALDH8A1"
                     /gene_synonym="ALDH12; DJ352A20.2"
                     /inference="alignment:Splign:2.1.0"
     exon            898..1059
                     /gene="ALDH8A1"
                     /gene_synonym="ALDH12; DJ352A20.2"
                     /inference="alignment:Splign:2.1.0"
     exon            1060..2534
                     /gene="ALDH8A1"
                     /gene_synonym="ALDH12; DJ352A20.2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2507..2512
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDH8A1"
                     /gene_synonym="ALDH12; DJ352A20.2"
                     /note="hexamer: AATAAA"
     polyA_site      2534
                     /gene="ALDH8A1"
                     /gene_synonym="ALDH12; DJ352A20.2"
                     /note="major polyA site"
ORIGIN      
        1 aacctgagtg ctcagtcgta aagaggaaag gcagaatttt tccttgctat ggctggaaca
       61 aacgcacttt tgatgctgga aaacttcata gatggaaaat ttttaccttg tagctcatat
      121 atagattctt acgacccatc aacaggggaa gtgtattgca gagtgccaaa tagtggaaaa
      181 gacgagatcg aagccgcggt caaggccgcc agagaagcct ttcccagctg gtcatcccgc
      241 agcccccagg agcgctcacg ggtcctgaac caggtggcgg atttgctgga gcagtccctg
      301 gaggagtttg cccaggccga gtctaaagac caagggaaaa ccttagcact ggcaagaacc
      361 atggacattc cccggtctgt gcagaacttc aggttcttcg cttcctccag cctgcaccac
      421 acgtcagagt gcacgcagat ggaccacctg ggctgcatgc actacacggt gcgggccccg
      481 gtgggagtcg ctggtctgat cagcccctgg aatttgccac tctacttgct gacctggaag
      541 atagctccag cgatggctgc agggaacact gtgatagcca agcccagtga gctgacttca
      601 gtgactgcgt ggatgttgtg caaactcctg gataaagcag gtgttccacc aggtgtggtc
      661 aatattgtgt ttggaaccgg gcccagggtg ggtgaggccc tggtgtccca cccagaggtg
      721 cccctgatct ccttcaccgg gagccagccc accgctgagc ggatcaccca gctgagcgct
      781 ccccactgca aaaagctctc cctggagctg gggggcaaga atcctgccat catctttgag
      841 gacgccaacc tggatgagtg cattccggca accgtcaggt ccagctttgc caaccagggt
      901 gaaatctgtc tctgtaccag caggatcttt gtccagaaga gcatctatag tgaattttta
      961 aagagatttg tagaagctac cagaaagtgg aaagtcggca ttccctctga tccactggtg
     1021 agcataggtg ctctgataag taaagcacat ttggagaaag tcagaagtta cgtcaagaga
     1081 gctcttgctg aaggtgccca aatttggtgc ggtgagggag tggataagtt gagcctccct
     1141 gccaggaacc aggcaggcta ctttatgctt cccacggtga taacagacat taaggatgaa
     1201 tcctgctgca tgacggaaga gatatttggt ccagtgacgt gtgtcgtccc ctttgatagt
     1261 gaagaggagg tgattgaaag agccaacaac gttaagtatg ggctggcggc taccgtgtgg
     1321 tccagcaatg tggggcgcgt ccaccgggtg gctaagaagc tgcagtctgg cttggtctgg
     1381 accaactgct ggctcatcag ggagctgaac cttcctttcg gggggatgaa gagttctgga
     1441 ataggtagag agggagccaa ggactcttac gacttcttca ctgagatcaa aaccatcacc
     1501 gttaaacact gatctttgct aatggtggag ccactatggc caatgcctgg ctgcaggcat
     1561 cagttgttca atgtggtaga tgaaaatcat ggcatgaatt ccagctatgc cttgacttgg
     1621 cagaaggtta tctctagctt atcctcagtt cttagtaact ttacccacta gtgaagagat
     1681 actgtctatt ttcaatgtgg actcggaaaa aaagacttat aagtaggaag atagaacaat
     1741 gatgccagtt gtcaggctcc tcccaggtta tgttttcata gtgtttcttt catcatcttc
     1801 attgaactct tgggaatctc cagataatca gattatttca tttggtaaat tttaaaaaat
     1861 atgcaatcag gcacagtgcc tcatgcctat aatcccagca ctttgggagg ccaaggtggg
     1921 tggatcactt gagttcagga gttcgagatc agcctaggca acatggtgaa atcctgtctt
     1981 taccaaaagt ttaaaaatta gcttggtgtg gtgccctctg cctatagccc cagctacttg
     2041 ggaggctgag gtgggaggat cgcttgagcc caggcggttg aggctgcagt gagccatgat
     2101 cattccactg catttcagcc tgggggatac agtgagacct tgtctttaaa aaaaaaatgc
     2161 tgcaaaacca aaaataaata gccataattt gccatctttg gagagattat ggagataatc
     2221 tccttgtcta ttagccacta gcatggctaa ttgatcattg attggacctc attacataag
     2281 ggggctgtgg acgtctttgg aatttgttag gggaaggcta tgtggtaagc tctactaaat
     2341 gtatctgtac aaggatgaag aaaaacaaaa taactactac ttttggagga aacttggaac
     2401 aagaagagta catagtttga tccattccta cggtcgagtc taatcaattc catttcttag
     2461 tgtatgcatc taatgaggct tacaacttgc taaccccaaa agaagcaata aatgttaagc
     2521 aattttagta acca
//
