LOCUS       NP_002216                423 aa            linear   PRI 27-APR-2025
DEFINITION  isovaleryl-CoA dehydrogenase, mitochondrial isoform 1 precursor
            [Homo sapiens].
ACCESSION   NP_002216
VERSION     NP_002216.3
DBSOURCE    REFSEQ: accession NM_002225.5
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  (residues 1 to 423)
  AUTHORS   Chen,W., Miao,C., Li,Y., Wang,X., Wu,W., Long,Q., Jiang,Y., Yan,Z.
            and Cui,Y.
  TITLE     A Case Report of a Novel Isovaleryl-CoA Dehydrogenase Gene Mutation
            in a Chinese Family with Isovaleric Acidemia
  JOURNAL   Clin Lab 69 (9) (2023)
   PUBMED   37702673
  REMARK    GeneRIF: A Case Report of a Novel Isovaleryl-CoA Dehydrogenase Gene
            Mutation in a Chinese Family with Isovaleric Acidemia.
REFERENCE   2  (residues 1 to 423)
  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  (residues 1 to 423)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 423)
  AUTHORS   Couce,M.L., Aldamiz-Echevarria,L., Bueno,M.A., Barros,P.,
            Belanger-Quintana,A., Blasco,J., Garcia-Silva,M.T.,
            Marquez-Armenteros,A.M., Vitoria,I., Vives,I., Navarrete,R.,
            Fernandez-Marmiesse,A., Perez,B. and Perez-Cerda,C.
  TITLE     Genotype and phenotype characterization in a Spanish cohort with
            isovaleric acidemia
  JOURNAL   J Hum Genet 62 (3), 355-360 (2017)
   PUBMED   27904153
  REMARK    GeneRIF: Nine novel isovaleryl-CoA dehydrogenase mutations have
            been found in a Spanish cohort with isovaleric acidemia.
REFERENCE   5  (residues 1 to 423)
  AUTHORS   Floyd,B.J., Wilkerson,E.M., Veling,M.T., Minogue,C.E., Xia,C.,
            Beebe,E.T., Wrobel,R.L., Cho,H., Kremer,L.S., Alston,C.L.,
            Gromek,K.A., Dolan,B.K., Ulbrich,A., Stefely,J.A., Bohl,S.L.,
            Werner,K.M., Jochem,A., Westphall,M.S., Rensvold,J.W., Taylor,R.W.,
            Prokisch,H., Kim,J.P., Coon,J.J. and Pagliarini,D.J.
  TITLE     Mitochondrial Protein Interaction Mapping Identifies Regulators of
            Respiratory Chain Function
  JOURNAL   Mol Cell 63 (4), 621-632 (2016)
   PUBMED   27499296
REFERENCE   6  (residues 1 to 423)
  AUTHORS   Mutze,U., Reischl-Hajiabadi,A. and Kolker,S.
  TITLE     Classic Isovaleric Acidemia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   38484105
REFERENCE   7  (residues 1 to 423)
  AUTHORS   Vockley,J., Nagao,M., Parimoo,B. and Tanaka,K.
  TITLE     The variant human isovaleryl-CoA dehydrogenase gene responsible for
            type II isovaleric acidemia determines an RNA splicing error,
            leading to the deletion of the entire second coding exon and the
            production of a truncated precursor protein that interacts poorly
            with mitochondrial import receptors
  JOURNAL   J Biol Chem 267 (4), 2494-2501 (1992)
   PUBMED   1310317
REFERENCE   8  (residues 1 to 423)
  AUTHORS   Vockley,J., Parimoo,B. and Tanaka,K.
  TITLE     Molecular characterization of four different classes of mutations
            in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric
            acidemia
  JOURNAL   Am J Hum Genet 49 (1), 147-157 (1991)
   PUBMED   2063866
REFERENCE   9  (residues 1 to 423)
  AUTHORS   Matsubara,Y., Ito,M., Glassberg,R., Satyabhama,S., Ikeda,Y. and
            Tanaka,K.
  TITLE     Nucleotide sequence of messenger RNA encoding human
            isovaleryl-coenzyme A dehydrogenase and its expression in
            isovaleric acidemia fibroblasts
  JOURNAL   J Clin Invest 85 (4), 1058-1064 (1990)
   PUBMED   2318964
REFERENCE   10 (residues 1 to 423)
  AUTHORS   Kraus,J.P., Matsubara,Y., Barton,D., Yang-Feng,T.L., Glassberg,R.,
            Ito,M., Ikeda,Y., Mole,J., Francke,U. and Tanaka,K.
  TITLE     Isolation of cDNA clones coding for rat isovaleryl-CoA
            dehydrogenase and assignment of the gene to human chromosome 15
  JOURNAL   Genomics 1 (3), 264-269 (1987)
   PUBMED   3446585
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC013356.8, AK315296.1 and
            AI086669.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 9, 2018 this sequence version replaced NP_002216.2.
            
            Summary: Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial
            matrix enzyme that catalyzes the third step in leucine catabolism.
            The genetic deficiency of IVD results in an accumulation of
            isovaleric acid, which is toxic to the central nervous system and
            leads to isovaleric acidemia. Alternatively spliced transcript
            variants have been found for this gene. [provided by RefSeq, Aug
            2017].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript, and encodes 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 :: SRR1660809.168179.1,
                                           SRR1660803.249103.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG   :: upstream AUG and CDS
                                                  extension is not conserved
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000487418.8/
                                                  ENSP00000418397.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..423
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15.1"
     Protein         1..423
                     /product="isovaleryl-CoA dehydrogenase, mitochondrial
                     isoform 1 precursor"
                     /EC_number="1.3.8.4"
                     /EC_number="1.3.8.1"
                     /note="isovaleryl Coenzyme A dehydrogenase; isovaleryl-CoA
                     dehydrogenase, mitochondrial; epididymis secretory sperm
                     binding protein; butyryl-CoA dehydrogenase"
                     /calculated_mol_wt=46188
     Region          41..420
                     /region_name="IVD"
                     /note="Isovaleryl-CoA dehydrogenase; cd01156"
                     /db_xref="CDD:173845"
     Site            order(124,128,132,171,197,220,274,281,284,287,399..400,
                     403..405)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:173845"
     Site            order(162,164..165,170..171,195,197,406,408)
                     /site_type="other"
                     /note="FAD binding site [chemical binding]"
                     /db_xref="CDD:173845"
     Site            283
                     /site_type="active"
                     /note="catalytic base [active]"
                     /db_xref="CDD:173845"
     CDS             1..423
                     /gene="IVD"
                     /gene_synonym="ACAD2; IVDH"
                     /coded_by="NM_002225.5:34..1305"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS10057.3"
                     /db_xref="GeneID:3712"
                     /db_xref="HGNC:HGNC:6186"
                     /db_xref="MIM:607036"
ORIGIN      
        1 matatrllgw rvaswrlrpp lagfvsqrah sllpvddain glseeqrqlr qtmakflqeh
       61 lapkaqeidr snefknlref wkqlgnlgvl gitapvqygg sglgylehvl vmeeisrasg
      121 avglsygahs nlcinqlvrn gneaqkekyl pklisgeyig alamsepnag sdvvsmklka
      181 ekkgnhyiln gnkfwitngp dadvlivyak tdlaavpasr gitafivekg mpgfstskkl
      241 dklgmrgsnt celifedcki paanilghen kgvyvlmsgl dlerlvlagg plglmqavld
      301 htipylhvre afgqkighfq lmqgkmadmy trlmacrqyv ynvakacdeg hctakdcagv
      361 ilysaecatq valdgiqcfg gngyindfpm grflrdakly eigagtsevr rlvigrafna
      421 dfh
//
