LOCUS       NM_001698               1574 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens AU RNA binding methylglutaconyl-CoA hydratase (AUH),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001698
VERSION     NM_001698.3
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 1574)
  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   2  (bases 1 to 1574)
  AUTHORS   Richman,T.R., Davies,S.M., Shearwood,A.M., Ermer,J.A., Scott,L.H.,
            Hibbs,M.E., Rackham,O. and Filipovska,A.
  TITLE     A bifunctional protein regulates mitochondrial protein synthesis
  JOURNAL   Nucleic Acids Res 42 (9), 5483-5494 (2014)
   PUBMED   24598254
  REMARK    GeneRIF: AUH localizes to the inner mitochondrial membrane and
            matrix where it associates with mitochondrial ribosomes and
            regulates protein synthesis.
REFERENCE   3  (bases 1 to 1574)
  AUTHORS   Mercimek-Mahmutoglu,S., Tucker,T. and Casey,B.
  TITLE     Phenotypic heterogeneity in two siblings with 3-methylglutaconic
            aciduria type I caused by a novel intragenic deletion
  JOURNAL   Mol Genet Metab 104 (3), 410-413 (2011)
   PUBMED   21840233
  REMARK    GeneRIF: Phenotypic heterogeneity in two siblings with
            3-methylglutaconic aciduria type I caused by a novel deletion of
            exons 1-3 within the AUH gene.
REFERENCE   4  (bases 1 to 1574)
  AUTHORS   McDonough,C.W., Palmer,N.D., Hicks,P.J., Roh,B.H., An,S.S.,
            Cooke,J.N., Hester,J.M., Wing,M.R., Bostrom,M.A., Rudock,M.E.,
            Lewis,J.P., Talbert,M.E., Blevins,R.A., Lu,L., Ng,M.C., Sale,M.M.,
            Divers,J., Langefeld,C.D., Freedman,B.I. and Bowden,D.W.
  TITLE     A genome-wide association study for diabetic nephropathy genes in
            African Americans
  JOURNAL   Kidney Int 79 (5), 563-572 (2011)
   PUBMED   21150874
REFERENCE   5  (bases 1 to 1574)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1574)
  AUTHORS   IJlst,L., Loupatty,F.J., Ruiter,J.P., Duran,M., Lehnert,W. and
            Wanders,R.J.
  TITLE     3-Methylglutaconic aciduria type I is caused by mutations in AUH
  JOURNAL   Am J Hum Genet 71 (6), 1463-1466 (2002)
   PUBMED   12434311
  REMARK    GeneRIF: 3-Methylglutaconic aciduria type I is caused by mutations
            in AUH
            Erratum:[Am J Hum Genet. 2003 Sep;73(3):709]
REFERENCE   7  (bases 1 to 1574)
  AUTHORS   Kurimoto,K., Fukai,S., Nureki,O., Muto,Y. and Yokoyama,S.
  TITLE     Crystal structure of human AUH protein, a single-stranded RNA
            binding homolog of enoyl-CoA hydratase
  JOURNAL   Structure 9 (12), 1253-1263 (2001)
   PUBMED   11738050
REFERENCE   8  (bases 1 to 1574)
  AUTHORS   Brennan,L.E., Nakagawa,J., Egger,D., Bienz,K. and Moroni,C.
  TITLE     Characterisation and mitochondrial localisation of AUH, an
            AU-specific RNA-binding enoyl-CoA hydratase
  JOURNAL   Gene 228 (1-2), 85-91 (1999)
   PUBMED   10072761
REFERENCE   9  (bases 1 to 1574)
  AUTHORS   Nakagawa,J. and Moroni,C.
  TITLE     A 20-amino-acid autonomous RNA-binding domain contained in an
            enoyl-CoA hydratase
  JOURNAL   Eur J Biochem 244 (3), 890-899 (1997)
   PUBMED   9108262
REFERENCE   10 (bases 1 to 1574)
  AUTHORS   Nakagawa,J., Waldner,H., Meyer-Monard,S., Hofsteenge,J., Jeno,P.
            and Moroni,C.
  TITLE     AUH, a gene encoding an AU-specific RNA binding protein with
            intrinsic enoyl-CoA hydratase activity
  JOURNAL   Proc Natl Acad Sci U S A 92 (6), 2051-2055 (1995)
   PUBMED   7892223
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA724873.1, BG706374.1,
            X79888.1 and AV751432.1.
            
            On Dec 4, 2019 this sequence version replaced NM_001698.2.
            
            Summary: This gene encodes bifunctional mitochondrial protein that
            has both RNA-binding and hydratase activities. The encoded protein
            is a methylglutaconyl-CoA hydratase that catalyzes the hydration of
            3-methylglutaconyl-CoA to 3-hydroxy-3-methyl-glutaryl-CoA, a
            critical step in the leucine degradation pathway. This protein also
            binds AU-rich elements (AREs) found in the 3' UTRs of rapidly
            decaying mRNAs including c-fos, c-myc and granulocyte/ macrophage
            colony stimulating factor. ARE elements are involved in directing
            RNA to rapid degradation and deadenylation. This protein is
            localizes to the mitochondrial matrix and the inner mitochondrial
            membrane and may be involved in mitochondrial protein synthesis.
            Mutations in this gene are the cause of 3-methylglutaconic
            aciduria, type I. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Sep 2015].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: X79888.1, SRR3476690.648420.1
                                           [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                 :: ENST00000375731.9/
                                                  ENSP00000364883.5
            multifunctional gene product(s)    :: PMID: 24598254
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-477               DA724873.1         7-483
            478-548             BG706374.1         480-550
            549-1185            X79888.1           524-1160
            1186-1574           AV751432.1         234-622
FEATURES             Location/Qualifiers
     source          1..1574
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.31"
     gene            1..1574
                     /gene="AUH"
                     /note="AU RNA binding methylglutaconyl-CoA hydratase"
                     /db_xref="GeneID:549"
                     /db_xref="HGNC:HGNC:890"
                     /db_xref="MIM:600529"
     exon            1..291
                     /gene="AUH"
                     /inference="alignment:Splign:2.1.0"
     CDS             30..1049
                     /gene="AUH"
                     /EC_number="4.2.1.18"
                     /EC_number="4.2.1.56"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; AU RNA-binding protein/enoyl-Coenzyme A
                     hydratase; 3-MG-CoA hydratase; AU-binding
                     protein/Enoyl-CoA hydratase; AU RNA binding
                     protein/enoyl-CoA hydratase; methylglutaconyl-CoA
                     hydratase, mitochondrial; AU-specific RNA-binding
                     enoyl-CoA hydratase; 3-methylglutaconyl-CoA hydratase;
                     itaconyl-CoA hydratase"
                     /codon_start=1
                     /product="methylglutaconyl-CoA hydratase, mitochondrial
                     isoform 1 precursor"
                     /protein_id="NP_001689.1"
                     /db_xref="CCDS:CCDS6689.1"
                     /db_xref="GeneID:549"
                     /db_xref="HGNC:HGNC:890"
                     /db_xref="MIM:600529"
                     /translation="MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRR
                     AGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVRHLEEENRGIVVLGINRAYGKNS
                     LSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSK
                     IRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGG
                     GGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAR
                     EFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPP
                     RYKGE"
     exon            292..359
                     /gene="AUH"
                     /inference="alignment:Splign:2.1.0"
     exon            360..447
                     /gene="AUH"
                     /inference="alignment:Splign:2.1.0"
     exon            448..534
                     /gene="AUH"
                     /inference="alignment:Splign:2.1.0"
     exon            535..627
                     /gene="AUH"
                     /inference="alignment:Splign:2.1.0"
     exon            628..684
                     /gene="AUH"
                     /inference="alignment:Splign:2.1.0"
     exon            685..872
                     /gene="AUH"
                     /inference="alignment:Splign:2.1.0"
     exon            873..923
                     /gene="AUH"
                     /inference="alignment:Splign:2.1.0"
     exon            924..971
                     /gene="AUH"
                     /inference="alignment:Splign:2.1.0"
     exon            972..1574
                     /gene="AUH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1414..1419
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AUH"
                     /note="hexamer: AATAAA"
     polyA_site      1437
                     /gene="AUH"
                     /note="major polyA site"
     regulatory      1553..1558
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AUH"
                     /note="hexamer: AATAAA"
     polyA_site      1574
                     /gene="AUH"
                     /note="major polyA site"
ORIGIN      
        1 gtcgcaggtc cacgccgtaa acagacaaca tggcggccgc ggtggcggcg gcacctgggg
       61 ccttgggatc cctgcatgct ggcggcgccc gcctggtggc cgcttgcagt gcgtggctct
      121 gcccggggtt gaggctgccc ggctcgttgg caggccggcg agcgggcccg gcgatctggg
      181 cccagggctg ggtacctgcg gccgggggtc ccgccccgaa aaggggctac agctctgaga
      241 tgaagacgga ggacgagctg cgggtgcggc acctggagga ggagaaccga ggaattgtgg
      301 tgcttggaat aaacagagct tatggcaaaa attcactcag taaaaatctt ataaaaatgc
      361 tatcaaaagc tgtggatgct ttgaaatctg ataagaaagt acggaccata ataatcagga
      421 gtgaagtccc agggatattc tgtgctggtg ctgaccttaa ggaaagagcc aaaatgagtt
      481 ccagtgaagt tggtcctttt gtctccaaaa taagagcagt gattaacgat attgctaatc
      541 ttccagtacc aacaattgca gcaatagatg gactcgcttt aggtggtggt cttgaactgg
      601 ctttagcctg tgatatacga gtagcagctt cctctgcaaa aatgggcctg gttgaaacaa
      661 aattggcgat tattcctggt ggagggggga cacagcgatt gccacgcgcc attggaatgt
      721 ccctggccaa ggagctcata ttctctgcgc gagtcctcga tggcaaagaa gccaaagcag
      781 tgggcttaat cagccacgtt ctggaacaga accaggaggg agacgcggcc tacaggaagg
      841 ccttggacct ggcgagagag tttttacctc agggacctgt tgcaatgaga gtggcaaaat
      901 tagcaattaa tcaagggatg gaggtcgatt tagtaacagg gttagccata gaagaagctt
      961 gttatgctca gaccattcca acaaaagaca gacttgaagg tcttcttgct tttaaagaga
     1021 aaaggccccc tcgctataaa ggagaataaa aggaacagaa attcttaaga tgccaatgta
     1081 ataaatgtac ttcctggaag tgtctttcgg atccactata tgcctcagca catggaacct
     1141 taatgaccaa agtgaagagc agattattca tacggtgtaa taagcatctg gaatggaccc
     1201 atccgtgtac ttcattcaaa tgtgtaaatg tcatattcat tcagatttat aaagctagta
     1261 gtgtatagtc agaaacagaa tcaaagttag atatacattt ttaaatattt actgcatatg
     1321 aggctttctg ttaatttttt aatgtgaata atttatatat tgcacattct agggaataat
     1381 attgattgta tgtctactgt gctgcattaa gaaaataaaa tttctatata ccaaaaatgt
     1441 gaagttatac caaataaagt ttctaagtga ttaatgcata cgaacagcta catatacata
     1501 tatctaaacc tgaaaaatga attgatattc tgagtgaaaa ctacctaata taaataaaat
     1561 tagtgaaaag aaaa
//
