(data stored in ACNUC7421 zone)

HOGENOM: HS9_PE1237

ID   HS9_PE1237                           STANDARD;      PRT;   339 AA.
AC   HS9_PE1237; Q13825; B1ALV7; B1ALV8; Q8WUE4;
DT   00-JAN-0000 (Rel. 1, Created)
DT   00-JAN-0000 (Rel. 2, Last sequence update)
DT   00-JAN-0000 (Rel. 3, Last annotation update)
DE   RecName: Full=Methylglutaconyl-CoA hydratase, mitochondrial; EC=4.2.1
DE   18;AltName: Full=AU-specific RNA-binding enoyl-CoA hydratase;
DE   Short=AU-binding protein/enoyl-CoA hydratase;Flags: Precursor;
DE   (HS9.PE1237).
GN   Name=AUH;
OS   HOMO SAPIENS.
OC   Eukaryota; Metazoa; Eumetazoa; Bilateria; Coelomata; Deuterostomia;
OC   Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi;
OC   Sarcopterygii; Tetrapoda; Amniota; Mammalia; Theria; Eutheria;
OC   Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini;
OC   Hominoidea; Hominidae; Homininae; Homo.
OX   NCBI_TaxID=9606;
RN   [0]
RP   -.;
RG   -.;
RL   -.;
CC   -!- SEQ. DATA ORIGIN: Translated from the HOGENOM CDS HS9.PE1237.
CC       Homo sapiens chromosome 9 GRCh37  sequence 1..141153431 annotated by
CC       Ensembl
CC   -!- ANNOTATIONS ORIGIN:AUHM_HUMAN
CC   -!- FUNCTION: Catalyzes the conversion of 3-methylglutaconyl-CoA to 3-
CC       hydroxy-3-methylglutaryl-CoA. Has very low enoyl-CoA hydratase
CC       activity. Was originally identified as RNA-binding protein that
CC       binds in vitro to clustered 5'-AUUUA-3' motifs.
CC   -!- CATALYTIC ACTIVITY: (S)-3-hydroxy-3-methylglutaryl-CoA = trans-3-
CC       methylglutaconyl-CoA + H(2)O.
CC   -!- PATHWAY: Amino-acid degradation; L-leucine degradation; (S)-3-
CC       hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 3/3.
CC   -!- SUBUNIT: Homohexamer.
CC   -!- SUBCELLULAR LOCATION: Mitochondrion (By similarity).
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q13825-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q13825-2; Sequence=VSP_008336;
CC         Note=No experimental confirmation available;
CC   -!- DISEASE: Defects in AUH are the cause of 3-methylglutaconic
CC       aciduria type 1 (MGA1) [MIM:250950]. MGA1 is an inborn error of
CC       leucine metabolism. It leads to an autosomal recessive syndrome
CC       with variable clinical phenotype, ranging from delayed speech
CC       development to severe psychomotor retardation, coma, failure to
CC       thrive, metabolic acidosis and dystonia. MGA1 can be distinguished
CC       from other forms of MGA by the pattern of metabolite excretion: 3-
CC       methylglutaconic acid levels are higher than those detected in
CC       other forms, whereas methylglutaric acid levels are usually only
CC       slightly elevated, and there is a high level of 3-
CC       hydroxyisovaleric acid excretion (not present in other MGA forms).
CC   -!- SIMILARITY: Belongs to the enoyl-CoA hydratase/isomerase family.
CC   -!- WEB RESOURCE: Name=GeneReviews;
CC       URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AUH";
CC   -!- GENE_FAMILY: HOG000027939 [ FAMILY / ALN / TREE ]
DR   HOGENOM:Homo_sapiens;ENSG00000148090;ENST00000375731;ENSP00000364883.
DR   EMBL; AL158071; - ;
DR   EMBL; AL353645; - ;
DR   EMBL; AL513353; - ;
DR   EMBL; BC020722; - ;
DR   EMBL; CH471089; - ;
DR   EMBL; X79888; - ;
DR   UniProtKB/Swiss-Prot; Q13825; B1ALV7; B1ALV8; Q8WUE4; -.
DR   EMBL; X79888; CAA56260.1; -; mRNA.
DR   EMBL; AL158071; CAH72265.1; -; Genomic_DNA.
DR   EMBL; AL353645; CAH72265.1; JOINED; Genomic_DNA.
DR   EMBL; AL513353; CAH72265.1; JOINED; Genomic_DNA.
DR   EMBL; AL158071; CAH72266.1; -; Genomic_DNA.
DR   EMBL; AL353645; CAH72266.1; JOINED; Genomic_DNA.
DR   EMBL; AL513353; CAH72266.1; JOINED; Genomic_DNA.
DR   EMBL; AL513353; CAH72310.1; -; Genomic_DNA.
DR   EMBL; AL158071; CAH72310.1; JOINED; Genomic_DNA.
DR   EMBL; AL353645; CAH72310.1; JOINED; Genomic_DNA.
DR   EMBL; AL513353; CAH72311.1; -; Genomic_DNA.
DR   EMBL; AL158071; CAH72311.1; JOINED; Genomic_DNA.
DR   EMBL; AL353645; CAH72311.1; JOINED; Genomic_DNA.
DR   EMBL; AL353645; CAH73894.1; -; Genomic_DNA.
DR   EMBL; AL158071; CAH73894.1; JOINED; Genomic_DNA.
DR   EMBL; AL513353; CAH73894.1; JOINED; Genomic_DNA.
DR   EMBL; AL353645; CAH73895.1; -; Genomic_DNA.
DR   EMBL; AL158071; CAH73895.1; JOINED; Genomic_DNA.
DR   EMBL; AL513353; CAH73895.1; JOINED; Genomic_DNA.
DR   EMBL; CH471089; EAW62794.1; -; Genomic_DNA.
DR   EMBL; CH471089; EAW62795.1; -; Genomic_DNA.
DR   EMBL; BC020722; AAH20722.1; -; mRNA.
DR   IPI; IPI00017802; -.
DR   IPI; IPI00102904; -.
DR   PIR; I37195; I37195.
DR   RefSeq; NP_001689.1; NM_001698.2.
DR   UniGene; Hs.175905; -.
DR   PDB; 1HZD; X-ray; 2.20 A; A/B/C/D/E/F=68-339.
DR   PDB; 2ZQQ; X-ray; 2.20 A; A/B/C/D/E/F=68-339.
DR   PDB; 2ZQR; X-ray; 2.50 A; A/B/C/D/E/F=68-339.
DR   PDBsum; 1HZD; -.
DR   PDBsum; 2ZQQ; -.
DR   PDBsum; 2ZQR; -.
DR   ProteinModelPortal; Q13825; -.
DR   SMR; Q13825; 33-339.
DR   STRING; Q13825; -.
DR   PhosphoSite; Q13825; -.
DR   PRIDE; Q13825; -.
DR   Ensembl; ENST00000375731; ENSP00000364883; ENSG00000148090.
DR   GeneID; 549; -.
DR   KEGG; hsa:549; -.
DR   UCSC; uc004arf.2; human.
DR   UCSC; uc004arg.2; human.
DR   CTD; 549; -.
DR   GeneCards; GC09M063656; -.
DR   H-InvDB; HIX0018470; -.
DR   HGNC; HGNC:890; AUH.
DR   HPA; HPA004171; -.
DR   MIM; 250950; phenotype.
DR   MIM; 600529; gene.
DR   neXtProt; NX_Q13825; -.
DR   Orphanet; 67046; 3-methylglutaconic aciduria type 1.
DR   PharmGKB; PA25181; -.
DR   eggNOG; prNOG14641; -.
DR   GeneTree; ENSGT00580000081296; -.
DR   InParanoid; Q13825; -.
DR   OMA; EILPNGP; -.
DR   OrthoDB; EOG41JZD9; -.
DR   PhylomeDB; Q13825; -.
DR   BioCyc; MetaCyc:MONOMER-11820; -.
DR   BRENDA; 4.2.1.18; 2681.
DR   Reactome; REACT_13; Metabolism of amino acids and derivatives.
DR   NextBio; 2269; -.
DR   ArrayExpress; Q13825; -.
DR   Bgee; Q13825; -.
DR   CleanEx; HS_AUH; -.
DR   Genevestigator; Q13825; -.
DR   GermOnline; ENSG00000148090; Homo sapiens.
DR   GO; GO:0005759; C:mitochondrial matrix; TAS:Reactome.
DR   GO; GO:0004300; F:enoyl-CoA hydratase activity; IDA:UniProtKB.
DR   GO; GO:0004490; F:methylglutaconyl-CoA hydratase activity; TAS:Reactome.
DR   GO; GO:0003730; F:mRNA 3'-UTR binding; IDA:UniProtKB.
DR   GO; GO:0009083; P:branched chain family amino acid catabolic process; TAS:Reactome.
DR   GO; GO:0006402; P:mRNA catabolic process; IDA:UniProtKB.
DR   InterPro; IPR014748; Crontonase_C.
DR   InterPro; IPR001753; Crotonase_core.
DR   InterPro; IPR018376; Enoyl-CoA_hyd/isom_CS.
DR   Gene3D; G3DSA:1.10.12.10; Crontonase_C; 1.
DR   Pfam; PF00378; ECH; 1.
DR   PROSITE; PS00166; ENOYL_COA_HYDRATASE; 1.
DR   HOGENOMDNA; HS9.PE1237; -.
KW   ENSG000001480901755old_1320000031; ENSP000003648837901old_1320000031;
KW   AL158071; AL353645; AL513353; BC020722; CH471089; X79888;
KW   3D-structure; Alternative splicing;
KW   Branched-chain amino acid catabolism; Complete proteome;
KW   Direct protein sequencing; Disease mutation; Lyase; Mitochondrion;
KW   Reference proteome; RNA-binding; Transit peptide.
SQ   SEQUENCE   339 AA;  UNKNOWN MW;  UNKNOWN CRC64;
     MAAAVAAAPG ALGSLHAGGA RLVAACSAWL CPGLRLPGSL AGRRAGPAIW AQGWVPAAGG
     PAPKRGYSSE MKTEDELRVR HLEEENRGIV VLGINRAYGK NSLSKNLIKM LSKAVDALKS
     DKKVRTIIIR SEVPGIFCAG ADLKERAKMS SSEVGPFVSK IRAVINDIAN LPVPTIAAID
     GLALGGGLEL ALACDIRVAA SSAKMGLVET KLAIIPGGGG TQRLPRAIGM SLAKELIFSA
     RVLDGKEAKA VGLISHVLEQ NQEGDAAYRK ALDLAREFLP QGPVAMRVAK LAINQGMEVD
     LVTGLAIEEA CYAQTIPTKD RLEGLLAFKE KRPPRYKGE
//

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