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FLASH GENE
Symbol ALDH5A1 contributors: mct/npt - updated : 28-06-2006
HGNC name aldehyde dehydrogenase 5 family, member A1
HGNC id 408
Corresponding disease
SSADH 4-hydroxybutyric aciduria
Location 6p22.2      Physical location : 24.495.196 - 24.537.434
Synonym name
  • aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase)
  • succinic semialdehyde dehydrogenase
  • NAD+-dependent succinic semialdehyde dehydrogenase
  • mitochondrial succinate semialdehyde dehydrogenase
  • Synonym symbol(s) SSDH, NAD, SSADH
    EC.number 1.2.1.24
    DNA
    TYPE functioning gene
    STRUCTURE 42.24 kb     11 Exon(s)    single Copie(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC391875 6 similar to 60S ribosomal protein L6 (TAX-responsive enhancer element binding protein 107) (TAXREB107) (Neoplasm-related protein C140) LOC346142 6p22.1 similar to hypothetical protein FLJ12671 LOC391876 6 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP-1) (Topoisomerase-inhibitor suppressed) VMP 6p21.33 vesicular membrane protein p24 DCDC2 6p22.1 doublecortin domain containing 2 KAAG1 6p22.1 kidney associated antigen 1 MRS2L 6p22.3-p22.1 MRS2-like, magnesium homeostasis factor (S. cerevisiae) GPLD1 6p22.3-p22.2 glycosylphosphatidylinositol specific phospholipase D1 ALDH5A1 6p22 aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase) KIAA0319 6p22.3-p22.2 aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase) TTRAP 6p22.3-p22.1 TRAF and TNF receptor associated protein THEM2 6p22.1 thioesterase superfamily member 2 C6orf62 6p22.1 chromosome 6 open reading frame 62 GMNN 6p21.32 geminin, DNA replication inhibitor C6orf32 6p22.3-p21.3 chromosome 6 open reading frame 32 LOC134997 6p22.1 peptidylprolyl isomerase A processed pseudogene LOC391877 6 similar to argininosuccinate synthetase CMAH 6p22 cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMP-N-acetylneuraminate monooxygenase) LOC266785 6p22 nucleoporin 50kDa pseudogene LOC391878 6 similar to D11Bwg0554e protein LOC154165 6p22.1 similar to 60S ribosomal protein L21 LOC340186 6p22.1 hypothetical protein LOC340186 LRRC16 6p22.1 leucine rich repeat containing 16 SCGN 6p22.3-p22.1 secretagogin, EF-hand calcium binding protein HIST1H2AA 6p21 histone 1, H2aa HIST1H2BA 6p21 histone 1, H2ba SLC17A4 6p22-p21.3 solute carrier family 17 (sodium phosphate), member 4 SLC17A1 6p22-p21.3 solute carrier family 17 (sodium phosphate), member 1 SLC17A3 6p21.3 solute carrier family 17 (sodium phosphate), member 3 HIST1H2APS2 6p22 histone 1, H2a, pseudogene 2 SLC17A2 6p21.3 solute carrier family 17 (sodium phosphate), member 2 TRIM38 6p21.3 tripartite motif-containing 38
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 5170 - 548 - Blasi (2006)
    10 - 5131 57 535 - Blasi (2006)
    lacks an in-frame segment of the coding region
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus   highly
    Digestiveliver    
    Nervousbrain    
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • conserved regions of the aldehyde dehydrogenases (ALDHs)
  • N-terminal NAD-binding domain (residues 48173, 196307 and 509524)
  • a catalytic domain (residues 308508)
  • an oligomerization domain (residues 174195 and 525535) (Kim 2009)
  • mono polymer heteromer , tetramer
    HOMOLOGY
    interspecies homolog to murine Aldh5a1
    Homologene
    FAMILY
  • aldehyde dehydrogenase family
  • CATEGORY transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    basic FUNCTION
  • succinate-semialdehyde dehydrogenase, involved in the biosynthesis of gammahydroxybutyrate and in the detoxification of xenobiotic carbonyl compounds
  • having an important role in the GABA degradation process (Kim 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism drug , organic acid
    signaling
    GABA metabolism
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other regulated by redox-switch modulation that confers a response to reactive oxygen species (ROS) and changes in redox status (Kim 2009)
    ASSOCIATED DISORDERS
    corresponding disease(s) SSADH
    Susceptibility
    Variant & Polymorphism
    Candidate gene murine SSADH-/- (e.g. Aldh5a1-/-) mouse model suffers from epileptic seizures and succumbs to early lethality. Aldh5a1-/- mice accumulate GHB and gamma-aminobutyric acid (GABA) in the central nervous system, exhibit alterations of amino acids such as glutamine (Gln), alanine (Ala) and arginine (Arg), and manifest disturbances in other systems including dopamine, neurosteroids and antioxidant status (Knerr 2007)
    Marker
    Therapy target
    ANIMAL & CELL MODELS