LOCUS       NM_005327               1803 bp    mRNA    linear   PRI 07-DEC-2024
DEFINITION  Homo sapiens hydroxyacyl-CoA dehydrogenase (HADH), transcript
            variant 2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_005327
VERSION     NM_005327.7
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 1803)
  AUTHORS   Wang,X., Song,H., Liang,J., Jia,Y. and Zhang,Y.
  TITLE     Abnormal expression of HADH, an enzyme of fatty acid oxidation,
            affects tumor development and prognosis (Review)
  JOURNAL   Mol Med Rep 26 (6) (2022)
   PUBMED   36239258
  REMARK    GeneRIF: Abnormal expression of HADH, an enzyme of fatty acid
            oxidation, affects tumor development and prognosis (Review).
            Review article
REFERENCE   2  (bases 1 to 1803)
  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   3  (bases 1 to 1803)
  AUTHORS   Zhang,W. and Sang,Y.M.
  TITLE     Genetic pathogenesis, diagnosis, and treatment of short-chain
            3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism
  JOURNAL   Orphanet J Rare Dis 16 (1), 467 (2021)
   PUBMED   34736508
  REMARK    GeneRIF: Genetic pathogenesis, diagnosis, and treatment of
            short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1803)
  AUTHORS   Du,Z., Zhang,X., Gao,W. and Yang,J.
  TITLE     Differentially expressed genes PCCA, ECHS1, and HADH are potential
            prognostic biomarkers for gastric cancer
  JOURNAL   Sci Prog 104 (2), 368504211011344 (2021)
   PUBMED   33881965
  REMARK    GeneRIF: Differentially expressed genes PCCA, ECHS1, and HADH are
            potential prognostic biomarkers for gastric cancer.
REFERENCE   5  (bases 1 to 1803)
  AUTHORS   Vredendaal,P.J., van den Berg,I.E., Stroobants,A.K., van der,A. DL,
            Malingre,H.E. and Berger,R.
  TITLE     Structural organization of the human short-chain
            L-3-hydroxyacyl-CoA dehydrogenase gene
  JOURNAL   Mamm Genome 9 (9), 763-768 (1998)
   PUBMED   9716664
REFERENCE   6  (bases 1 to 1803)
  AUTHORS   Vredendaal,P.J., van den Berg,I.E., Malingre,H.E., Stroobants,A.K.,
            Olde Weghuis,D.E. and Berger,R.
  TITLE     Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and
            characterization of the coding sequence
  JOURNAL   Biochem Biophys Res Commun 223 (3), 718-723 (1996)
   PUBMED   8687463
REFERENCE   7  (bases 1 to 1803)
  AUTHORS   Bennett,M.J., Weinberger,M.J., Kobori,J.A., Rinaldo,P. and
            Burlina,A.B.
  TITLE     Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase
            deficiency: a new defect of fatty acid oxidation
  JOURNAL   Pediatr Res 39 (1), 185-188 (1996)
   PUBMED   8825408
REFERENCE   8  (bases 1 to 1803)
  AUTHORS   Gillis,D.
  TITLE     Nonsyndromic Genetic Hyperinsulinism Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301549
REFERENCE   9  (bases 1 to 1803)
  AUTHORS   Tein,I., De Vivo,D.C., Hale,D.E., Clarke,J.T., Zinman,H., Laxer,R.,
            Shore,A. and DiMauro,S.
  TITLE     Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle:
            a new cause for recurrent myoglobinuria and encephalopathy
  JOURNAL   Ann Neurol 30 (3), 415-419 (1991)
   PUBMED   1835339
REFERENCE   10 (bases 1 to 1803)
  AUTHORS   Craig,I., Tolley,E. and Bobrow,M.
  TITLE     A preliminary analysis of the segregation of human hydroxyacyl
            coenzyme A dehydrogenase in human-mouse somatic cell hybrids
  JOURNAL   Cytogenet Cell Genet 16 (1-5), 114-117 (1976)
   PUBMED   975867
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC114733.4 and AC118062.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Dec 4, 2019 this sequence version replaced NM_005327.6.
            
            Summary: This gene is a member of the 3-hydroxyacyl-CoA
            dehydrogenase gene family. The encoded protein functions in the
            mitochondrial matrix to catalyze the oxidation of straight-chain
            3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its
            enzymatic activity is highest with medium-chain-length fatty acids.
            Mutations in this gene cause one form of familial hyperinsulinemic
            hypoglycemia. The human genome contains a related pseudogene of
            this gene on chromosome 15. [provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (2) lacks an in-frame exon in the
            coding region, compared to variant 1. The encoded isoform (2) is
            shorter than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AF001902.1, HM005616.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000309522.8/
                                                  ENSP00000312288.4
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-176               AC114733.4         42017-42192
            177-305             AC118062.4         12804-12932
            306-463             AC118062.4         17476-17633
            464-590             AC118062.4         22585-22711
            591-680             AC118062.4         26519-26608
            681-753             AC118062.4         30733-30805
            754-870             AC118062.4         36221-36337
            871-1803            AC118062.4         37284-38216
FEATURES             Location/Qualifiers
     source          1..1803
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q25"
     gene            1..1803
                     /gene="HADH"
                     /gene_synonym="HAD; HADH1; HADHSC; HCDH; HHF4; MSCHAD;
                     SCHAD"
                     /note="hydroxyacyl-CoA dehydrogenase"
                     /db_xref="GeneID:3033"
                     /db_xref="HGNC:HGNC:4799"
                     /db_xref="MIM:601609"
     exon            1..176
                     /gene="HADH"
                     /gene_synonym="HAD; HADH1; HADHSC; HCDH; HHF4; MSCHAD;
                     SCHAD"
                     /inference="alignment:Splign:2.1.0"
     CDS             45..989
                     /gene="HADH"
                     /gene_synonym="HAD; HADH1; HADHSC; HCDH; HHF4; MSCHAD;
                     SCHAD"
                     /EC_number="1.1.1.35"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; hydroxyacyl-coenzyme A dehydrogenase,
                     mitochondrial; testis secretory sperm-binding protein Li
                     203a; L-3-hydroxyacyl-Coenzyme A dehydrogenase, short
                     chain; short-chain 3-hydroxyacyl-CoA dehydrogenase; medium
                     and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase"
                     /codon_start=1
                     /product="hydroxyacyl-coenzyme A dehydrogenase,
                     mitochondrial isoform 2 precursor"
                     /protein_id="NP_005318.6"
                     /db_xref="CCDS:CCDS3678.1"
                     /db_xref="GeneID:3033"
                     /db_xref="HGNC:HGNC:4799"
                     /db_xref="MIM:601609"
                     /translation="MAFVTRQFMRSVSSSSTASASAKKIIVKHVTVIGGGLMGAGIAQ
                     VAAATGHTVVLVDQTEDILAKSKKGIEESLRKVAKKKFAENLKAGDEFVEKTLSTIAT
                     STDAASVVHSTDLVVEAIVENLKVKNELFKRLDKFAAEHTIFASNTSSLQITSIANAT
                     TRQDRFAGLHFFNPVPVMKLVEVIKTPMTSQKTFESLVDFSKALGKHPVSCKDTPGFI
                     VNRLLVPYLMEAIRLYERGDASKEDIDTAMKLGAGYPMGPFELLDYVGLDTTKFIVDG
                     WHEMDAENPLHQPSPSLNKLVAENKFGKKTGEGFYKYK"
     exon            177..305
                     /gene="HADH"
                     /gene_synonym="HAD; HADH1; HADHSC; HCDH; HHF4; MSCHAD;
                     SCHAD"
                     /inference="alignment:Splign:2.1.0"
     exon            306..463
                     /gene="HADH"
                     /gene_synonym="HAD; HADH1; HADHSC; HCDH; HHF4; MSCHAD;
                     SCHAD"
                     /inference="alignment:Splign:2.1.0"
     exon            464..590
                     /gene="HADH"
                     /gene_synonym="HAD; HADH1; HADHSC; HCDH; HHF4; MSCHAD;
                     SCHAD"
                     /inference="alignment:Splign:2.1.0"
     exon            591..680
                     /gene="HADH"
                     /gene_synonym="HAD; HADH1; HADHSC; HCDH; HHF4; MSCHAD;
                     SCHAD"
                     /inference="alignment:Splign:2.1.0"
     exon            681..753
                     /gene="HADH"
                     /gene_synonym="HAD; HADH1; HADHSC; HCDH; HHF4; MSCHAD;
                     SCHAD"
                     /inference="alignment:Splign:2.1.0"
     exon            754..870
                     /gene="HADH"
                     /gene_synonym="HAD; HADH1; HADHSC; HCDH; HHF4; MSCHAD;
                     SCHAD"
                     /inference="alignment:Splign:2.1.0"
     exon            871..1803
                     /gene="HADH"
                     /gene_synonym="HAD; HADH1; HADHSC; HCDH; HHF4; MSCHAD;
                     SCHAD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1101..1106
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HADH"
                     /gene_synonym="HAD; HADH1; HADHSC; HCDH; HHF4; MSCHAD;
                     SCHAD"
                     /note="hexamer: AATAAA"
     polyA_site      1124
                     /gene="HADH"
                     /gene_synonym="HAD; HADH1; HADHSC; HCDH; HHF4; MSCHAD;
                     SCHAD"
                     /note="major polyA site"
     regulatory      1778..1783
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HADH"
                     /gene_synonym="HAD; HADH1; HADHSC; HCDH; HHF4; MSCHAD;
                     SCHAD"
                     /note="hexamer: AGTAAA"
     polyA_site      1803
                     /gene="HADH"
                     /gene_synonym="HAD; HADH1; HADHSC; HCDH; HHF4; MSCHAD;
                     SCHAD"
                     /note="major polyA site"
ORIGIN      
        1 cttccctgcc cgggtctcct cgctgtcgcc gccgctgcca caccatggcc ttcgtcacca
       61 ggcagttcat gcgttccgtg tcctcctcgt ccaccgcctc ggcctcggcc aagaagataa
      121 tcgtcaagca cgtgacggtc atcggcggcg ggctgatggg cgccggcatt gcccaggttg
      181 ctgcagcaac tggtcacaca gtagtgttgg tagaccagac agaggacatc ctggcaaaat
      241 ccaaaaaggg aattgaggaa agccttagga aagtggcaaa gaagaagttt gcagaaaacc
      301 ttaaggccgg cgatgaattt gtggagaaga ccctgagcac catagcgacc agcacggatg
      361 cagcctccgt tgtccacagc acagacttgg tggtggaagc catcgtggag aatctgaagg
      421 tgaaaaacga gctcttcaaa aggctggaca agtttgctgc tgaacataca atctttgcca
      481 gcaacacttc ctccttgcag attacaagca tagctaatgc caccaccaga caagaccgat
      541 tcgctggcct ccatttcttc aacccagtgc ctgtcatgaa acttgtggag gtcattaaaa
      601 caccaatgac cagccagaag acatttgaat ctttggtaga ctttagcaaa gccctaggaa
      661 agcatcctgt ttcttgcaag gacactcctg ggtttattgt gaaccgcctc ctggttccat
      721 acctcatgga agcaatcagg ctgtatgaac gaggtgacgc atccaaagaa gacattgaca
      781 ctgctatgaa attaggagcc ggttacccca tgggcccatt tgagcttcta gattatgtcg
      841 gactggatac tacgaagttc atcgtggatg ggtggcatga aatggatgca gagaacccat
      901 tacatcagcc cagcccatcc ttaaataagc tggtagcaga gaacaagttc ggcaagaaga
      961 ctggagaagg attttacaaa tacaagtgat gtgcagcttc tccggctctg agaagaacac
     1021 ctgagagcgc tttccagcca gtgccccgag tgcctgtggg aatgctcttt ggtcagacat
     1081 tccctcacac agtacagttt aataaatgtg cattttgatt gtaatctatc gaagtgatta
     1141 ttacaccagt tacagcagta atagattctc cattaagaaa taattccctt ttttagtctg
     1201 ttcatttctg tgtattttct aaacagcttt acacccttgg tgccttggag caaacatgtt
     1261 ttttgaacct tgtcattttt gtgaagaatt gcctagattc cttctctcat caacgggaaa
     1321 gtacttcctc tgagagtgcg agtgcaccat gctcactgtt gctgcgtggg agagtcacaa
     1381 gccactggca agcaagtggt atagtctgtg aagcactgca gcgagcagca cctggatctt
     1441 gcctttataa gaacatttta ctacctgcag ctttgagtct tgccctacat tttgggcatg
     1501 acataagatg tgtctttatt cagctcgtcg tgaagatgct gctgctgaat gggtcagcat
     1561 atctctgttt gcatggtttg caggaggtcg gttttcatgg tcattcagtt ccacagatct
     1621 gaatgattac tgtctgtctg tgtctttttt ccatgagaaa tcactgttgc aaattgccta
     1681 taaattgact ctactaaaat aacaatgttt cagtctgaaa atttgaattg aaaaaaatgt
     1741 ataatataaa attgtaatac actcaaatga ttataaaagt aaaagttggt aatttaggca
     1801 gaa
//
