LOCUS       NM_001286672            2976 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH),
            transcript variant 6, mRNA.
ACCESSION   NM_001286672
VERSION     NM_001286672.2
KEYWORDS    RefSeq.
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 2976)
  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 2976)
  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 2976)
  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 2976)
  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 2976)
  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, BC141824.1 and
            AC068620.5.
            
            On Aug 13, 2020 this sequence version replaced NM_001286672.1.
            
            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].
            
            Transcript Variant: This variant (6) differs in the 3' UTR and
            coding sequence compared to variant 1. The resulting isoform (6)
            has a shorter and distinct C-terminus compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX648853.1, BC141824.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                DC306784.1         18-42
            26-671              BC141824.1         1-646
            672-672             AC068620.5         81822-81822         c
            673-966             BC141824.1         648-941
            967-967             AC068620.5         75023-75023         c
            968-1725            BC141824.1         943-1700
            1726-1726           AC068620.5         56932-56932         c
            1727-2411           BC141824.1         1702-2386
            2412-2412           AC068620.5         53017-53017         c
            2413-2963           BC141824.1         2388-2938
            2964-2976           AC068620.5         52453-52465         c
FEATURES             Location/Qualifiers
     source          1..2976
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q12"
     gene            1..2976
                     /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..2698
                     /gene="AASDH"
                     /gene_synonym="ACSF4; LYS2; NRPS1098; NRPS998"
                     /EC_number="6.2.1.-"
                     /note="isoform 6 is encoded by transcript variant 6;
                     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 6"
                     /protein_id="NP_001273601.1"
                     /db_xref="CCDS:CCDS75127.1"
                     /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
                     FYSGKVKWEQILGDRIESSACVSKCGNFIVVGKFLNLRFVELN"
     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..2976
                     /gene="AASDH"
                     /gene_synonym="ACSF4; LYS2; NRPS1098; NRPS998"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2936..2941
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AASDH"
                     /gene_synonym="ACSF4; LYS2; NRPS1098; NRPS998"
                     /note="hexamer: AATAAA"
     polyA_site      2976
                     /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 gtaagttttt gaatttgagg tttgtggagt taaattgaat
     2701 taccatacaa taatcttcat aggcccaagt taaatttttt aaaaatctaa atatgatggg
     2761 tttggttgct gtccaaaaat tatagttaac cctgtgctga ttaatattgt gggccttggg
     2821 gtcaagagtc cctggatttg aacctacctg tatagctatt atgaactctg tgacctttgg
     2881 caagttactg aacctcttag aatttcactt tccttgtggg taaaatggga ataataataa
     2941 aatgtgttgc tgtatcacaa ataccccaaa actcaa
//
