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FLASH GENE
Symbol ALDH4A1 contributors: - updated : 05-02-2004
HGNC name aldehyde dehydrogenase 4 family, member A1
HGNC id 406
Corresponding disease
P5CDD hyperprolinemia, type II
Location 1p36      Physical location : 19.197.925 - 19.229.293
Synonym name
  • delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial
  • aldehyde dehydrogenase 4 (glutamate gamma-semialdehyde dehydrogenase;
  • pyrroline-5-carboxylate dehydrogenase)
  • P5C dehydrogenase
  • Synonym symbol(s) P5CDH, P5CD, ALDH4
    EC.number 1.5.1.12
    DNA
    TYPE functioning gene
    STRUCTURE 31.00 kb     16 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    FLJ10521 1p36.13 hypothetical protein FLJ10521 LOC81569 1p36.2-p35 actin like protein MGC15730 1p36.13 hypothetical protein MGC15730 FLJ38753 1p36.13 hypothetical protein FLJ38753 LOC391012 1 similar to Putative dynein light chain protein DJ8B22.1 PAX7 1p36.2-p36.12 paired box gene 7 TAS1R2 1p36.13 taste receptor, type 1, member 2 ALDH4A1 1p36 aldehyde dehydrogenase 4 family, member A1 RBAF600 1p36.13 retinoblastoma-associated factor 600 KIAA0090 1p36.13 retinoblastoma-associated factor 600 C1orf33 1p36.13 chromosome 1 open reading frame 33 AFAR3  aflatoxin B1 aldehyde reductase 3 AKR7A3 1p35.1-p36.23 aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) AKR7A2 1p36.1-p35 aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) FLJ20320 CAPZB 1p36.1 capping protein (actin filament) muscle Z-line, beta LOC388600 1 similar to protein of fungal metazoan origin like (11.1 kD) (2C514) NBL1 1p36.13-p36.11 neuroblastoma, suppression of tumorigenicity 1 HTR6 1p36-p35 5-hydroxytryptamine (serotonin) receptor 6 LOC255104 1p36.13 hypothetical protein LOC255104 FLJ20225 1p36.13 hypothetical protein FLJ20225 LOC254897 1p36.13 similar to OSJNBa0043A12.32 PLA2G2E 1p36.13 similar to OSJNBa0043A12.32 PLA2G2A 1p36.1-p35 phospholipase A2, group IIA (platelets, synovial fluid) PLA2G5 1p36-p34 phospholipase A2, group V PLA2G2D 1p36.12 phospholipase A2, group IID PLA2G2F 1p35 phospholipase A2, group IID LOC391013 1 similar to Group IIC secretory phospholipase A2 precursor (Phosphatidylcholine 2-acylhydrolase GIIC) (GIIC sPLA2) (PLA2-8) (14 kDa phospholipase A2) FLJ25429
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 3160 61 563 containing a 1kb insert in the 3'untranslated region Hu
    Both variants encode the same protein
    - - 2147 61 563 - Hu
    Both variants encode the same protein
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Endocrinepancreas    
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    a putative 24 aminoacid N terminal mitochondrial targeting sequence
    mono polymer homomer , dimer
    isoforms Precursor targeting sequence cleaved to produced a mature monomer of 539 aminoacids
    HOMOLOGY
    interspecies homolog to murine Aldh4a1
    Homologene
    FAMILY aldehyde dehydrogenase family
    CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • oxydoreductase
  • aldehyde dehydrogenase 4 (glutamate gamma-semialdehyde dehydrogenase; pyrroline-5-carboxylate dehydrogenase)
  • converting proline or ornithine to glutamate
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism aminoacid
    signaling
    proline metabolism and catabolism
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
    NAD+
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) P5CDD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS