LOCUS       NM_003748               3139 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens aldehyde dehydrogenase 4 family member A1 (ALDH4A1),
            transcript variant P5CDhL, mRNA; nuclear gene for mitochondrial
            product.
ACCESSION   NM_003748
VERSION     NM_003748.4
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 3139)
  AUTHORS   Li,J., Chen,R., Zhou,J., Wang,Y., Zhao,X., Liu,C., Zhou,P.,
            Chen,Y., Song,L., Li,N., Yan,H. and Zhao,H.
  TITLE     Atherosclerotic Autoantigen ALDH4A1 as a Novel Immunological
            Indicator for Plaque Erosion in Patients with ST Segment Elevated
            Myocardial Infarction
  JOURNAL   Thromb Haemost 124 (6), 584-594 (2024)
   PUBMED   38109905
  REMARK    GeneRIF: Atherosclerotic Autoantigen ALDH4A1 as a Novel
            Immunological Indicator for Plaque Erosion in Patients with ST
            Segment Elevated Myocardial Infarction.
REFERENCE   2  (bases 1 to 3139)
  AUTHORS   Villa,O., Stuhr,N.L., Yen,C.A., Crimmins,E.M., Arpawong,T.E. and
            Curran,S.P.
  TITLE     Genetic variation in ALDH4A1 is associated with muscle health over
            the lifespan and across species
  JOURNAL   Elife 11, e74308 (2022)
   PUBMED   35470798
  REMARK    GeneRIF: Genetic variation in ALDH4A1 is associated with muscle
            health over the lifespan and across species.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3139)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   4  (bases 1 to 3139)
  AUTHORS   Lorenzo,C., Delgado,P., Busse,C.E., Sanz-Bravo,A.,
            Martos-Folgado,I., Bonzon-Kulichenko,E., Ferrarini,A.,
            Gonzalez-Valdes,I.B., Mur,S.M., Roldan-Montero,R.,
            Martinez-Lopez,D., Martin-Ventura,J.L., Vazquez,J., Wardemann,H.
            and Ramiro,A.R.
  TITLE     ALDH4A1 is an atherosclerosis auto-antigen targeted by protective
            antibodies
  JOURNAL   Nature 589 (7841), 287-292 (2021)
   PUBMED   33268892
  REMARK    GeneRIF: ALDH4A1 is an atherosclerosis auto-antigen targeted by
            protective antibodies.
REFERENCE   5  (bases 1 to 3139)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 3139)
  AUTHORS   Hu,C.A., Lin,W.W. and Valle,D.
  TITLE     Cloning, characterization, and expression of cDNAs encoding human
            delta 1-pyrroline-5-carboxylate dehydrogenase
  JOURNAL   J Biol Chem 271 (16), 9795-9800 (1996)
   PUBMED   8621661
REFERENCE   7  (bases 1 to 3139)
  AUTHORS   Hochstrasser,D.F., Frutiger,S., Paquet,N., Bairoch,A., Ravier,F.,
            Pasquali,C., Sanchez,J.C., Tissot,J.D., Bjellqvist,B., Vargas,R. et
            al.
  TITLE     Human liver protein map: a reference database established by
            microsequencing and gel comparison
  JOURNAL   Electrophoresis 13 (12), 992-1001 (1992)
   PUBMED   1286669
REFERENCE   8  (bases 1 to 3139)
  AUTHORS   Hopkinson,D.A., Santisteban,I., Povey,S. and Smith,M.
  TITLE     Biochemical genetic analysis of human and rodent aldehyde
            dehydrogenase (ALDH)
  JOURNAL   Alcohol 2 (1), 73-78 (1985)
   PUBMED   4015840
REFERENCE   9  (bases 1 to 3139)
  AUTHORS   Valle,D., Goodman,S.I., Harris,S.C. and Phang,J.M.
  TITLE     Genetic evidence for a common enzyme catalyzing the second step in
            the degradation of proline and hydroxyproline
  JOURNAL   J Clin Invest 64 (5), 1365-1370 (1979)
   PUBMED   500817
REFERENCE   10 (bases 1 to 3139)
  AUTHORS   Goodman,S.I., Mace,J.W., Miles,B.S., Teng,C.C. and Brown,S.B.
  TITLE     Defective hydroxyproline metabolism in type II hyperprolinemia
  JOURNAL   Biochem Med 10 (4), 329-336 (1974)
   PUBMED   4851275
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC318624.1 and BC023600.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_003748.3.
            
            Summary: This protein belongs to the aldehyde dehydrogenase family
            of proteins. This enzyme is a mitochondrial matrix NAD-dependent
            dehydrogenase which catalyzes the second step of the proline
            degradation pathway, converting pyrroline-5-carboxylate to
            glutamate. Deficiency of this enzyme is associated with type II
            hyperprolinemia, an autosomal recessive disorder characterized by
            accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline.
            Alternatively spliced transcript variants encoding different
            isoforms have been identified for this gene. [provided by RefSeq,
            Jun 2009].
            
            Transcript Variant: This variant (P5CDhL) represents the longest
            transcript. Both variants P5CDhL and P5CDhS encode the same protein
            (isoform a).
            
            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 :: BC023600.2, U24266.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000375341.8/
                                                  ENSP00000364490.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                DC318624.1         245-259
            16-3139             BC023600.2         1-3124
FEATURES             Location/Qualifiers
     source          1..3139
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.13"
     gene            1..3139
                     /gene="ALDH4A1"
                     /gene_synonym="ALDH4; P5CD; P5CDh"
                     /note="aldehyde dehydrogenase 4 family member A1"
                     /db_xref="GeneID:8659"
                     /db_xref="HGNC:HGNC:406"
                     /db_xref="MIM:606811"
     exon            1..94
                     /gene="ALDH4A1"
                     /gene_synonym="ALDH4; P5CD; P5CDh"
                     /inference="alignment:Splign:2.1.0"
     CDS             33..1724
                     /gene="ALDH4A1"
                     /gene_synonym="ALDH4; P5CD; P5CDh"
                     /EC_number="1.2.1.88"
                     /note="isoform a precursor is encoded by transcript
                     variant P5CDhL; mitochondrial delta-1-pyrroline
                     5-carboxylate dehydrogenase; P5C dehydrogenase;
                     delta-1-pyrroline-5-carboxylate dehydrogenase,
                     mitochondrial; aldehyde dehydrogenase family 4 member A1;
                     L-glutamate gamma-semialdehyde dehydrogenase; epididymis
                     secretory sperm binding protein"
                     /codon_start=1
                     /product="delta-1-pyrroline-5-carboxylate dehydrogenase,
                     mitochondrial isoform a precursor"
                     /protein_id="NP_003739.2"
                     /db_xref="CCDS:CCDS188.1"
                     /db_xref="GeneID:8659"
                     /db_xref="HGNC:HGNC:406"
                     /db_xref="MIM:606811"
                     /translation="MLLPAPALRRALLSRPWTGAGLRWKHTSSLKVANEPVLAFTQGS
                     PERDALQKALKDLKGRMEAIPCVVGDEEVWTSDVQYQVSPFNHGHKVAKFCYADKSLL
                     NKAIEAALAARKEWDLKPIADRAQIFLKAADMLSGPRRAEILAKTMVGQGKTVIQAEI
                     DAAAELIDFFRFNAKYAVELEGQQPISVPPSTNSTVYRGLEGFVAAISPFNFTAIGGN
                     LAGAPALMGNVVLWKPSDTAMLASYAVYRILREAGLPPNIIQFVPADGPLFGDTVTSS
                     EHLCGINFTGSVPTFKHLWKQVAQNLDRFHTFPRLAGECGGKNFHFVHRSADVESVVS
                     GTLRSAFEYGGQKCSACSRLYVPHSLWPQIKGRLLEEHSRIKVGDPAEDFGTFFSAVI
                     DAKSFARIKKWLEHARSSPSLTILAGGKCDDSVGYFVEPCIVESKDPQEPIMKEEIFG
                     PVLSVYVYPDDKYKETLQLVDSTTSYGLTGAVFSQDKDVVQEATKVLRNAAGNFYIND
                     KSTGSIVGQQPFGGARASGTNDKPGGPHYILRWTSPQVIKETHKPLGDWSYAYMQ"
     exon            95..188
                     /gene="ALDH4A1"
                     /gene_synonym="ALDH4; P5CD; P5CDh"
                     /inference="alignment:Splign:2.1.0"
     exon            189..281
                     /gene="ALDH4A1"
                     /gene_synonym="ALDH4; P5CD; P5CDh"
                     /inference="alignment:Splign:2.1.0"
     exon            282..329
                     /gene="ALDH4A1"
                     /gene_synonym="ALDH4; P5CD; P5CDh"
                     /inference="alignment:Splign:2.1.0"
     exon            330..485
                     /gene="ALDH4A1"
                     /gene_synonym="ALDH4; P5CD; P5CDh"
                     /inference="alignment:Splign:2.1.0"
     exon            486..635
                     /gene="ALDH4A1"
                     /gene_synonym="ALDH4; P5CD; P5CDh"
                     /inference="alignment:Splign:2.1.0"
     exon            636..710
                     /gene="ALDH4A1"
                     /gene_synonym="ALDH4; P5CD; P5CDh"
                     /inference="alignment:Splign:2.1.0"
     exon            711..898
                     /gene="ALDH4A1"
                     /gene_synonym="ALDH4; P5CD; P5CDh"
                     /inference="alignment:Splign:2.1.0"
     exon            899..972
                     /gene="ALDH4A1"
                     /gene_synonym="ALDH4; P5CD; P5CDh"
                     /inference="alignment:Splign:2.1.0"
     exon            973..1169
                     /gene="ALDH4A1"
                     /gene_synonym="ALDH4; P5CD; P5CDh"
                     /inference="alignment:Splign:2.1.0"
     exon            1170..1217
                     /gene="ALDH4A1"
                     /gene_synonym="ALDH4; P5CD; P5CDh"
                     /inference="alignment:Splign:2.1.0"
     exon            1218..1370
                     /gene="ALDH4A1"
                     /gene_synonym="ALDH4; P5CD; P5CDh"
                     /inference="alignment:Splign:2.1.0"
     exon            1371..1492
                     /gene="ALDH4A1"
                     /gene_synonym="ALDH4; P5CD; P5CDh"
                     /inference="alignment:Splign:2.1.0"
     exon            1493..1611
                     /gene="ALDH4A1"
                     /gene_synonym="ALDH4; P5CD; P5CDh"
                     /inference="alignment:Splign:2.1.0"
     exon            1612..3139
                     /gene="ALDH4A1"
                     /gene_synonym="ALDH4; P5CD; P5CDh"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3119..3124
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDH4A1"
                     /gene_synonym="ALDH4; P5CD; P5CDh"
                     /note="hexamer: AATAAA"
     polyA_site      3139
                     /gene="ALDH4A1"
                     /gene_synonym="ALDH4; P5CD; P5CDh"
                     /note="major polyA site"
ORIGIN      
        1 gatccagcga acagccccgc ttctaacccg agatgctgct gccggcgccc gcgctccgcc
       61 gcgccctgct gtcccgcccc tggaccgggg ccggcctgcg gtggaagcac acctcctccc
      121 tgaaggtggc caacgagccc gtcttagcct tcacgcaggg cagccctgag cgagatgccc
      181 tgcaaaaggc cttgaaggac ctgaagggcc ggatggaagc catcccatgc gtggtggggg
      241 atgaggaggt gtggacgtcg gacgtgcagt accaagtgtc gccttttaac catggacata
      301 aggtggccaa gttctgttat gcagacaaga gcctgctcaa caaagccatt gaggctgccc
      361 tggctgcccg gaaagagtgg gacctgaagc ctattgcaga ccgggcccag atcttcctga
      421 aggcggcaga catgctgagt gggccgcgca gggctgagat cctcgccaag accatggtgg
      481 gacagggtaa gaccgtgatc caagcggaga ttgacgctgc agcggaactc atcgacttct
      541 tccggttcaa tgccaagtat gcggtggagc tggaggggca gcagcccatc agcgtgcccc
      601 cgagcaccaa cagcacggtg taccggggtc tggagggctt cgtggcggcc atctcgccct
      661 ttaacttcac tgcaatcggc ggcaacctgg cgggggcacc ggccctgatg ggcaacgtgg
      721 tcctatggaa gcccagtgac actgccatgc tggccagcta tgctgtctac cgcatccttc
      781 gggaggctgg cctgcccccc aacatcatcc agtttgtgcc agctgatggg cccctatttg
      841 gggacactgt caccagctca gagcacctct gtggcatcaa cttcacaggc agtgtgccca
      901 ccttcaaaca cctgtggaag caggtggccc agaacctgga ccggttccac accttcccac
      961 gcctggctgg agagtgcggc ggaaagaact tccacttcgt gcaccgctcg gccgacgtgg
     1021 agagcgtggt gagcgggacc ctccgctcag ccttcgagta cggtggccag aagtgttccg
     1081 cgtgctcgcg tctctacgtg ccgcactcgc tgtggccgca gatcaaaggg cggctgctgg
     1141 aggagcacag tcggatcaaa gtgggcgacc ctgcagagga ttttgggacc ttcttctctg
     1201 cagtgattga tgccaagtcc tttgcccgta tcaagaagtg gctggagcac gcacgctcct
     1261 cacccagcct caccatcctg gccgggggca agtgtgatga ctccgtgggc tactttgtgg
     1321 agccctgcat cgtggagagc aaggaccctc aggagcccat catgaaggag gagatcttcg
     1381 ggcctgtact gtctgtgtac gtctacccgg atgacaagta caaggagacg ctgcagctgg
     1441 ttgacagcac caccagctat ggcctcacgg gggcagtgtt ctcccaggat aaggacgtcg
     1501 tgcaggaggc cacaaaggtg ctgaggaatg ctgccggcaa cttctacatc aacgacaagt
     1561 ccactggctc gatagtgggc cagcagccct ttgggggggc ccgagcctct ggaaccaatg
     1621 acaagccagg gggcccacac tacatcctgc gctggacgtc gccgcaggtc atcaaggaga
     1681 cacataagcc cctgggggac tggagctacg cgtacatgca gtgagcccct ctcgggctcc
     1741 accgtccagc tgtctgtccg tccaggtggc cgacctcact gcacagaccc cactccagcc
     1801 cctccacccc ttcttcatgc acagctgcct ttctataatc cgggcttgac tcccttctta
     1861 ccactgtatt ctggcctctc ccatgcctca ggctctggtt tgagatcgtg ctggggagga
     1921 acatggccac taccccttat cccatcggcc atgtgggagg tatgaccctg gtgcctggca
     1981 ggttctccct ctgccctcca ctgggcccag tggctcaggg acctggggaa aggagatgga
     2041 gcagctcttg ggatcctttg gggaaaagga ggccattctg ggccccttgg caaacctcac
     2101 cactcacaga ggctcctggc cttgatccct gcccctccag gtgtccaggg taaagtgtaa
     2161 ctcagactga cctgtggggc acagggggca ccagctggcc ttgccctctc tggtctgggc
     2221 tgtctacctt cctcactgta tctttgccca gacccacctg ggccagtagg cccctgtccc
     2281 cagccacaca ccttagatgc tggcatgcct tactccaggt gcctgtgttt ggccgaggcc
     2341 tgtgtgattc ccggtctgca ccacatggcg gggttggggg gccgctggag gccacctgcc
     2401 aaggcgtggg atgggatggt cctgccggtt taggccgtga ttctggaaaa ccttggatgg
     2461 gccttcgtcc tatgtcagcc ttccctttga tcctcaggcc ctacctgtag agacctccac
     2521 tcctagagcc agtctcaggg tctgggattt ccctgcagga gctcagccac cactgtgcca
     2581 tggtgacaca ggccaaggca gacattggcc ctcccttctc ccagccccca gaggcctggc
     2641 cttgggttcg tcagcatggg ccgaggacgt tgcctgtaga atcctcctct gcctgggagt
     2701 ggctctgtgt ggaccagtcc ctcactggcc cattcttttt ttgacgcagc caatctgtga
     2761 ccacgattcc tcccacagat gcctcctgct tggattctga gtggtcagag atctgtaaag
     2821 catgactttc aaggatggtt cttaggggac tgtgaaagtg ttgggtcttc ctccaggatg
     2881 cctgcatggg accccacccg gagctggtgt ggccattccc caagtgccac tggcccatgg
     2941 atgggggtgg gtgctggtgc cagctgggct gggtgtgggt tctgtgtcct tccaggatat
     3001 gtgtcatttc ccatgagggg ccggggcagg tggctgggtg ggggcacagg ctggagtatt
     3061 cttagttcta ctggttctac actgtgaggt ggcaatggga tttgctcaga tgccacccaa
     3121 taaaatgcct gttacttaa
//
