LOCUS       NM_181806               3581 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH),
            transcript variant 1, mRNA.
ACCESSION   NM_181806
VERSION     NM_181806.4
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 3581)
  AUTHORS   Drozak,J., Veiga-da-Cunha,M., Kadziolka,B. and Van Schaftingen,E.
  TITLE     Vertebrate Acyl CoA synthetase family member 4 (ACSF4-U26) is a
            beta-alanine-activating enzyme homologous to bacterial
            non-ribosomal peptide synthetase
  JOURNAL   FEBS J 281 (6), 1585-1597 (2014)
   PUBMED   24467666
  REMARK    GeneRIF: ACSF4 (U26) is a beta-alanine activating enzyme homologous
            to bacterial nonribosomal peptide synthetase. Experiments using the
            mouse protein suggest this enzyme may be involved in a rare
            intracellular reaction, possibly an infrequent post-translational
            or post-transcriptional modification.
REFERENCE   2  (bases 1 to 3581)
  AUTHORS   Watkins,P.A., Maiguel,D., Jia,Z. and Pevsner,J.
  TITLE     Evidence for 26 distinct acyl-coenzyme A synthetase genes in the
            human genome
  JOURNAL   J Lipid Res 48 (12), 2736-2750 (2007)
   PUBMED   17762044
REFERENCE   3  (bases 1 to 3581)
  AUTHORS   Wang,L., Jil,C., Xu,Y., Xu,J., Dai,J., Wu,Q., Wu,M., Zou,X.,
            Sun,L., Gu,S., Xie,Y. and Mao,Y.
  TITLE     Cloning and characterization of a novel human homolog* of mouse
            U26, a putative PQQ-dependent AAS dehydrogenase
  JOURNAL   Mol Biol Rep 32 (1), 47-53 (2005)
   PUBMED   15865210
  REMARK    GeneRIF: Human 2-aminoadipic 6-semialdehyde dehydrogenase gene was
            cloned; its mRNA is ubiquitously expressed in adult tissues and is
            highly expressed in colon adenocarcinoma (CX-1) and colon
            adenocarcinoma (GI-112) cell lines.
REFERENCE   4  (bases 1 to 3581)
  AUTHORS   Wellenreuther,R., Schupp,I., Poustka,A. and Wiemann,S.
  CONSRTM   German cDNA Consortium
  TITLE     SMART amplification combined with cDNA size fractionation in order
            to obtain large full-length clones
  JOURNAL   BMC Genomics 5 (1), 36 (2004)
   PUBMED   15198809
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3581)
  AUTHORS   Kasahara,T. and Kato,T.
  TITLE     Nutritional biochemistry: A new redox-cofactor vitamin for mammals
  JOURNAL   Nature 422 (6934), 832 (2003)
   PUBMED   12712191
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC306784.1, AY314787.1,
            AK304309.1 and AA743758.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_181806.3.
            
            Summary: This gene encodes a member of the non-ribosome peptide
            syntesase (NRPS) enzyme family. The encoded protein contains an
            AMP-binding domain, PP-binding (phosphopantetheine, or pantetheine
            4'phosphate-binding) domain and the Pyrrolo-quinoline quinon (PQQ)
            binding domain. The protein is expressed in several adult tissues.
            [provided by RefSeq, Apr 2016].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY422212.1, AK316296.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000205214.11/ ENSP00000205214.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                DC306784.1         18-37
            21-1454             AY314787.1         1-1434
            1455-1812           AK304309.1         1463-1820
            1813-3259           AY314787.1         1793-3239
            3260-3527           AK304309.1         3268-3535
            3528-3581           AA743758.1         17-70               c
FEATURES             Location/Qualifiers
     source          1..3581
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q12"
     gene            1..3581
                     /gene="AASDH"
                     /gene_synonym="ACSF4; LYS2; NRPS1098; NRPS998"
                     /note="aminoadipate-semialdehyde dehydrogenase"
                     /db_xref="GeneID:132949"
                     /db_xref="HGNC:HGNC:23993"
                     /db_xref="MIM:614365"
     exon            1..130
                     /gene="AASDH"
                     /gene_synonym="ACSF4; LYS2; NRPS1098; NRPS998"
                     /inference="alignment:Splign:2.1.0"
     exon            131..402
                     /gene="AASDH"
                     /gene_synonym="ACSF4; LYS2; NRPS1098; NRPS998"
                     /inference="alignment:Splign:2.1.0"
     CDS             173..3469
                     /gene="AASDH"
                     /gene_synonym="ACSF4; LYS2; NRPS1098; NRPS998"
                     /EC_number="6.2.1.-"
                     /note="isoform 1 is encoded by transcript variant 1;
                     acyl-CoA synthetase family member 4; 2-aminoadipic
                     6-semialdehyde dehydrogenase; non-ribosomal peptide
                     synthetase 998; non-ribosomal peptide synthetase 1098;
                     beta-alanine-activating enzyme"
                     /codon_start=1
                     /product="beta-alanine-activating enzyme isoform 1"
                     /protein_id="NP_861522.2"
                     /db_xref="CCDS:CCDS3504.1"
                     /db_xref="GeneID:132949"
                     /db_xref="HGNC:HGNC:23993"
                     /db_xref="MIM:614365"
                     /translation="MTLQELVHKAASCYMDRVAVCFDECNNQLPVYYTYKTVVNAASE
                     LSNFLLLHCDFQGIREIGLYCQPGIDLPSWILGILQVPAAYVPIEPDSPPSLSTHFMK
                     KCNLKYILVEKKQINKFKSFHETLLNYDTFTVEHNDLVLFRLHWKNTEVNLMLNDGKE
                     KYEKEKIKSISSEHVNEEKAEEHMDLRLKHCLAYVLHTSGTTGIPKIVRVPHKCIVPN
                     IQHFRVLFDITQEDVLFLASPLTFDPSVVEIFLALSSGASLLIVPTSVKLLPSKLASV
                     LFSHHRVTVLQATPTLLRRFGSQLIKSTVLSATTSLRVLALGGEAFPSLTVLRSWRGE
                     GNKTQIFNVYGITEVSSWATIYRIPEKTLNSTLKCELPVQLGFPLLGTVVEVRDTNGF
                     TIQEGSGQVFLGGRNRVCFLDDEVTVPLGTMRATGDFVTVKDGEIFFLGRKDSQIKRH
                     GKRLNIELVQQVAEELQQVESCAVTWYNQEKLILFMVSKDASVKEYIFKELQKYLPSH
                     AVPDELVLIDSLPFTSHGKIDVSELNKIYLNYINLKSENKLSGKEDLWEKLQYLWKST
                     LNLPEDLLRVPDESLFLNSGGDSLKSIRLLSEIEKLVGTSVPGLLEIILSSSILEIYN
                     HILQTVVPDEDVTFRKSCATKRKLSDINQEEASGTSLHQKAIMTFTCHNEINAFVVLS
                     RGSQILSLNSTRFLTKLGHCSSACPSDSVSQTNIQNLKGLNSPVLIGKSKDPSCVAKV
                     SEEGKPAIGTQKMELHVRWRSDTGKCVDASPLVVIPTFDKSSTTVYIGSHSHRMKAVD
                     FYSGKVKWEQILGDRIESSACVSKCGNFIVVGCYNGLVYVLKSNSGEKYWMFTTEDAV
                     KSSATMDPTTGLIYIGSHDQHAYALDIYRKKCVWKSKCGGTVFSSPCLNLIPHHLYFA
                     TLGGLLLAVNPATGNVIWKHSCGKPLFSSPQCCSQYICIGCVDGNLLCFTHFGEQVWQ
                     FSTSGPIFSSPCTSPSEQKIFFGSHDCFIYCCNMKGHLQWKFETTSRVYATPFAFHNY
                     NGSNEMLLAAASTDGKVWILESQSGQLQSVYELPGEVFSSPVVLESMLIIGCRDNYVY
                     CLDLLGGNQK"
     exon            403..523
                     /gene="AASDH"
                     /gene_synonym="ACSF4; LYS2; NRPS1098; NRPS998"
                     /inference="alignment:Splign:2.1.0"
     exon            524..840
                     /gene="AASDH"
                     /gene_synonym="ACSF4; LYS2; NRPS1098; NRPS998"
                     /inference="alignment:Splign:2.1.0"
     exon            841..1033
                     /gene="AASDH"
                     /gene_synonym="ACSF4; LYS2; NRPS1098; NRPS998"
                     /inference="alignment:Splign:2.1.0"
     exon            1034..1275
                     /gene="AASDH"
                     /gene_synonym="ACSF4; LYS2; NRPS1098; NRPS998"
                     /inference="alignment:Splign:2.1.0"
     exon            1276..1382
                     /gene="AASDH"
                     /gene_synonym="ACSF4; LYS2; NRPS1098; NRPS998"
                     /inference="alignment:Splign:2.1.0"
     exon            1383..1555
                     /gene="AASDH"
                     /gene_synonym="ACSF4; LYS2; NRPS1098; NRPS998"
                     /inference="alignment:Splign:2.1.0"
     exon            1556..1748
                     /gene="AASDH"
                     /gene_synonym="ACSF4; LYS2; NRPS1098; NRPS998"
                     /inference="alignment:Splign:2.1.0"
     exon            1749..1864
                     /gene="AASDH"
                     /gene_synonym="ACSF4; LYS2; NRPS1098; NRPS998"
                     /inference="alignment:Splign:2.1.0"
     exon            1865..2660
                     /gene="AASDH"
                     /gene_synonym="ACSF4; LYS2; NRPS1098; NRPS998"
                     /inference="alignment:Splign:2.1.0"
     exon            2661..2824
                     /gene="AASDH"
                     /gene_synonym="ACSF4; LYS2; NRPS1098; NRPS998"
                     /inference="alignment:Splign:2.1.0"
     exon            2825..2947
                     /gene="AASDH"
                     /gene_synonym="ACSF4; LYS2; NRPS1098; NRPS998"
                     /inference="alignment:Splign:2.1.0"
     exon            2948..3079
                     /gene="AASDH"
                     /gene_synonym="ACSF4; LYS2; NRPS1098; NRPS998"
                     /inference="alignment:Splign:2.1.0"
     exon            3080..3581
                     /gene="AASDH"
                     /gene_synonym="ACSF4; LYS2; NRPS1098; NRPS998"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3562..3567
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AASDH"
                     /gene_synonym="ACSF4; LYS2; NRPS1098; NRPS998"
                     /note="hexamer: ATTATA"
     polyA_site      3581
                     /gene="AASDH"
                     /gene_synonym="ACSF4; LYS2; NRPS1098; NRPS998"
                     /note="major polyA site"
ORIGIN      
        1 acgtatggtg cctcgctctg ggatagcttt acggcttctg ggagctgctg cttcgctgtg
       61 agaagtatcc gcgacgagct atccgggaaa gggccgaatg cgatcaaacc taatccgcga
      121 gacttgctaa ggttctgtgc tacaaattga tgtttagata aacttcagtg aaatgactct
      181 tcaggaattg gtgcataagg ctgcctcctg ttatatggac agagtagctg tatgttttga
      241 tgaatgcaac aaccagcttc cagtttacta cacctacaag actgtggtta atgctgcttc
      301 tgaattatca aattttctgc tgttacactg tgactttcaa ggaattcggg aaattggtct
      361 ctactgccaa cctgggatag acttaccctc ttggatttta ggaattctcc aagtcccggc
      421 tgcttatgta cctatcgagc cagattcacc accgtcatta tcaactcatt ttatgaaaaa
      481 atgtaatcta aagtatatcc ttgttgaaaa aaaacaaatt aataaattta aatcttttca
      541 tgaaacatta ttgaactatg atacatttac agtggaacat aatgacctag tgctcttcag
      601 acttcactgg aaaaatactg aggtgaactt gatgctaaat gatggaaaag agaaatatga
      661 aaaagaaaaa ataaaaagca taagttctga gcatgtcaat gaagaaaaag cagaagaaca
      721 catggatctg aggctaaagc attgcttagc ctatgttcta catacatcag ggactacagg
      781 gataccgaag attgtcagag tgcctcataa gtgtatagta ccaaatatcc agcattttcg
      841 ggtacttttt gacatcacac aagaagatgt tttgtttctg gcttcacctc tgaccttcga
      901 tccttctgtt gtggaaatat ttcttgctct atcaagtggt gcctctctgc ttattgtacc
      961 aacttccgtc aagttgctcc catcaaaatt agccagcgtt ctcttttccc atcatagagt
     1021 gactgttttg caggcaacac caacattgct tagaagattt ggatctcagc ttatcaagtc
     1081 aactgttttg tcagccacta cttctcttcg agtattagcc cttggtggtg aagcgtttcc
     1141 atcattgaca gttctcagaa gctggagagg agaaggcaat aaaacacaaa tatttaatgt
     1201 ttatggtatc acagaggtat caagttgggc gaccatttat aggattccag agaagactct
     1261 taactctact ctcaaatgtg aattgcctgt acaactggga tttccacttc ttggaacagt
     1321 agttgaagtc agagatacta atggcttcac aattcaggaa ggcagtggcc aagtattttt
     1381 aggtggcaga aacagagtgt gttttcttga tgatgaagtg acagtaccac ttggcacaat
     1441 gcgagctaca ggagactttg tgactgtgaa agatggagag attttttttt tgggacgaaa
     1501 agacagtcag atcaaacgtc atggcaaacg tcttaacatt gaacttgtgc aacaggttgc
     1561 tgaagagctt cagcaagtgg agtcttgtgc agttacatgg tataatcagg aaaaattaat
     1621 tctcttcatg gtgtctaaag atgcttcagt aaaagaatac atctttaaag aactgcagaa
     1681 atatcttcca agtcatgcag tcccggatga gcttgtattg atcgactctc taccatttac
     1741 atcccacggc aaaattgatg tttctgagtt aaacaagata tatttaaact acataaactt
     1801 gaagtctgag aataagctca gtgggaaaga ggacctttgg gaaaaattac agtatttgtg
     1861 gaagtctact ctgaatctcc cagaagatct tttgagggtt cctgatgagt cactcttctt
     1921 aaatagtggt ggagattcct taaagtccat ccggctcctc agtgagattg aaaaacttgt
     1981 tggtacatca gtacctgggc ttctggaaat tattctcagc agttccattt tagagattta
     2041 taatcacatc cttcaaacag tggttccaga tgaagatgtg acattcagga agagttgtgc
     2101 cacaaaaagg aaactcagcg acattaatca agaggaagcc agtggaacat ctttacatca
     2161 gaaagccatc atgactttca cttgccacaa tgagattaat gcttttgttg tactgagcag
     2221 agggagtcaa attttgtctc tgaattccac taggttttta acaaagttag gacattgctc
     2281 ttcagcctgt ccttctgact cagtttcaca gaccaacatt caaaatttga aaggcttaaa
     2341 ttctccagtt cttattggga agtcaaaaga tccatcctgt gttgcaaaag tttctgaaga
     2401 ggggaaacct gcgataggga ctcagaaaat ggagttacat gtgaggtgga ggtcagacac
     2461 aggcaaatgt gtagatgctt caccgctggt tgtaataccc acttttgata agtcatctac
     2521 aactgtgtac attggttccc attctcatag aatgaaggca gttgactttt actctgggaa
     2581 ggtaaaatgg gaacagattt tgggagatcg aattgaatcc tcagcatgtg tatctaagtg
     2641 tggaaacttt attgtggtgg gctgttataa tggattagtt tatgttctga aaagtaatag
     2701 tggagaaaaa tactggatgt ttactactga agatgctgtc aaaagctcgg caaccatgga
     2761 tccaaccaca ggactcattt acattggatc tcatgaccag cacgcatatg ctttagatat
     2821 ttatagaaag aagtgtgttt ggaagtcaaa atgtggagga actgtctttt cctctccgtg
     2881 tttgaacctg attccacatc atttgtattt tgctacattg ggaggacttt tactggctgt
     2941 aaatcctgct actgggaacg ttatttggaa acattcctgt ggaaaaccac tcttctcttc
     3001 cccacaatgt tgctcacagt atatttgtat tggctgtgta gatgggaatt tactctgctt
     3061 tactcacttt ggagaacagg tttggcagtt ctctaccagt ggaccaatct tttcatcccc
     3121 gtgtacctca ccatcagagc aaaaaatatt ttttggttcc catgattgct ttatctactg
     3181 ttgtaacatg aaaggtcacc tgcagtggaa atttgaaact acttcaaggg tctatgcaac
     3241 accgtttgct ttccataact acaatggcag caatgaaatg ttgctggcag cagcatctac
     3301 tgatgggaaa gtgtggatct tggaatctca gagtggacaa ttgcaaagtg tttatgaact
     3361 tcctggagaa gtcttctctt ctcctgtggt cctggaatca atgctcatta ttgggtgtag
     3421 agataattat gtttattgtc tggatttatt gggtggcaat caaaaataat caaatacagt
     3481 ccttatttgt ataacaaatg tgagatattt gaaaatattt taccattata catcatgtgg
     3541 acttatttta tattaaagaa gattatattt tggctaagaa a
//
