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0MMSA_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameALDH6A1
DescriptionMethylmalonate-semialdehyde dehydrogenase ) (ec 1.2.1.18).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0005739 mitochondrion (NAS)
0004491 methylmalonate-semialdehyde dehydrogenase (... (NAS)
0006220 pyrimidine nucleotide metabolism (NAS)
0006573 valine metabolism (NAS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains unassigned to SynO:
Aldehyde dehydrogenases ( and ) are enzymes which oxidizea wide variety of aliphatic and aromatic aldehydes using NADP as a cofactor. In mammals at least fourdifferent forms of the enzyme are known : class-1 (or Ald C) a tetramericcytosolic enzyme.lass-2 (or Ald M) a tetrameric mitochondrial enzyme.lass-3 (or Ald D) a dimeric cytosolic enzyme.nd class IV a microsomal enzyme.Aldehyde dehydrogenases have also been sequenced from fungal and bacterialspecies. A number of enzymes are known to be evolutionary related to aldehydedehydrogenases.A glutamic acid and a cysteine residue have been implicated in the catalyticactivity of mammalian aldehyde dehydrogenase. These residues are conserved inall the enzymes of this family.Some of the proteins in this family are allergens. Allergies are hypersensitivity reactions of the immune system to specific substances called allergens (such as pollen.tings.rugs.r food) that.n most people.esult in no symptoms. A nomenclature system has been established for antigens (allergens) that cause IgE-mediated atopic allergies in humans [WHO/IUIS Allergen Nomenclature Subcommittee King T.P..offmann D..oewenstein H..arsh D.G..latts-Mills T.A.E..homas W. Bull. World Health Organ. 72:797-806(1994)]. This nomenclature system is defined by a designation that is composed ofthe first three letters of the genus; a space; the first letter of thespecies name; a space and an arabic number. In the event that two speciesnames have identical designations.hey are discriminated from one anotherby adding one or more letters (as necessary) to each species designation. The allergens in this family include allergens with the following designations: Alt a 10 and Cla h 3.
  IPR002086:Aldehyde dehydrogenase
These proteins are involved in valine catabolism.ethylmalonate-semialdehyde dehydrogenase catalyzes the irreversible NAD+- and CoA-dependent oxidative decarboxylation of methylmalonate semialdehyde to propionyl-CoA. Methylmalonate-semialdehyde dehydrogenase has been characterised in both prokaryotes .nd eukaryotes .unctioning as a mammalian tetramer and a bacterial homodimer. Although similar in monomeric molecular mass and enzymatic activity.he N-terminal sequence in Pseudomonas aeruginosa does not correspond with the N-terminal sequence predicted for rat liver. Sequence homology to a variety of prokaryotic and eukaryotic aldehyde dehydrogenases places MMSDH in the aldehyde dehydrogenase (NAD+) superfamily making MMSDHs CoA requirement unique among known ALDHs. Methylmalonate semialdehyde dehydrogenase is closely related to betaine aldehyde dehydrogenase.-hydroxymuconic semialdehyde dehydrogenase.nd class 1 and 2 aldehyde dehydrogenase . In Bacillus. highly homologous protein to methylmalonic acid semialdehyde dehydrogenase.roups out from the main MMSDH clade with Listeria and Sulfolobus. This Bacillus protein has been suggested to be located in an iol operon and/or involved in myo-inositol catabolism.onverting malonic semialdehyde to acetyl CoA ad CO2 . The preceding enzymes responsible for valine catabolism are present in Bacillus.isteria.nd Sulfolobus.
  IPR010061:Methylmalonate-semialdehyde dehydrogenase
Aldehyde dehydrogenases ( and ) are enzymes which oxidizea wide variety of aliphatic and aromatic aldehydes using NADP as a cofactor. In mammals at least fourdifferent forms of the enzyme are known : class-1 (or Ald C) a tetramericcytosolic enzyme.lass-2 (or Ald M) a tetrameric mitochondrial enzyme.lass-3 (or Ald D) a dimeric cytosolic enzyme.nd class IV a microsomal enzyme.Aldehyde dehydrogenases have also been sequenced from fungal and bacterialspecies. A number of enzymes are known to be evolutionary related to aldehydedehydrogenases.A glutamic acid and a cysteine residue have been implicated in the catalyticactivity of mammalian aldehyde dehydrogenase. These residues are conserved inall the enzymes of this family.
  IPR012303:NAD-dependent aldehyde dehydrogenase
IPR002086:Aldedh 
Evalue:-173.920822143555 
Location:48-512IPR002086:ALDEHYDE_DEHYDR_GLU 
Evalue:0 
Location:0-0
SequencesProtein: MMSA_HUMAN (535 aa)
mRNA: NM_005589
Local Annotation
Synapse Ontology
mitochondria are frequently observed in the vicinity of the synaptic vesicle clusters, in agreement with the ATP requirement of several steps of the vesicle cycle.
sdb:0118 mitochondria  (Evidence:keywords)
KO assignmentK00140
  Level 3 annotation:
    methylmalonate-semialdehyde dehydrogenase
  Level 2 annotation:
    Propanoate metabolism
    Inositol metabolism
    Valine
     leucine and isoleucine degradation
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 193 residues, 73596625-73597202Exon2: 35 residues, 73601277-73601376Exon3: 62 residues, 73601636-73601816Exon4: 62 residues, 73603160-73603342Exon5: 65 residues, 73603835-73604025Exon6: 42 residues, 73605315-73605437Exon7: 103 residues, 73607650-73607953Exon8: 28 residues, 73608351-73608430Exon9: 56 residues, 73608658-73608820Exon10: 27 residues, 73608992-73609067Exon11: 23 residues, 73611410-73611473Exon12: 51 residues, 73620802-73620949Exon13: 2 residues, -Jump to MMSA_HUMAN  
Tune and view alternative isoforms
Loci Cluster (Details)Loci: 4141 73596625-73620949 ~-24K 11458(ALDH6A1)(-)Loci: 4140 73470457-73486588 ~-16K 11452(C14orf44)(-)Link out to UCSC