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ALDH3A1 Gene

protein-coding   GIFtS: 70
GCID: GC17M019641

Aldehyde Dehydrogenase 3 Family, Member A1


(Previous symbol: ALDH3)
  See ALDH3A1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Aldehyde Dehydrogenase 3 Family, Member A11 2     Aldehyde Dehydrogenase Type III2
ALDH31 2 3 5     Aldehyde Dehydrogenase, Dimeric NADP-Preferring2
ALDHIII2 3     Stomach Aldehyde Dehydrogenase2
EC 1.2.1.53 8     Aldehyde Dehydrogenase 33
Aldehyde Dehydrogenase1     Aldehyde Dehydrogenase Family 3 Member A13
Dimeric NADP-Preferring1     EC 1.2.18
Aldehyde Dehydrogenase Isozyme 32     

External Ids:    HGNC: 4051   Entrez Gene: 2182   Ensembl: ENSG000001086027   OMIM: 1006605   UniProtKB: P308383   

Export aliases for ALDH3A1 gene to outside databases

Previous GC identifers: GC17M019747 GC17M021277 GC17M019545 GC17M019803 GC17M019581 GC17M019020


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ALDH3A1 Gene:
Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the
detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines,
neurotransmitters, and lipid peroxidation. The enzyme encoded by this gene forms a cytoplasmic homodimer that
preferentially oxidizes aromatic and medium-chain (6 carbons or more) saturated and unsaturated aldehyde
substrates. It is thought to promote resistance to UV and 4-hydroxy-2-nonenal-induced oxidative damage in the
cornea. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Multiple alternatively
spliced variants, encoding the same protein, have been identified. (provided by RefSeq, Sep 2008)

GeneCards Summary for ALDH3A1 Gene:
ALDH3A1 (aldehyde dehydrogenase 3 family, member A1) is a protein-coding gene. Diseases associated with ALDH3A1 include sjogren-larsson syndrome, and breast adenocarcinoma. GO annotations related to this gene include 3-chloroallyl aldehyde dehydrogenase activity and aldehyde dehydrogenase (NAD) activity. An important paralog of this gene is ALDH3B1.

UniProtKB/Swiss-Prot: AL3A1_HUMAN, P30838
Function: ALDHs play a major role in the detoxification of alcohol-derived acetaldehyde. They are involved in the
metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. This protein
preferentially oxidizes aromatic aldehyde substrates. It may play a role in the oxidation of toxic aldehydes

Gene Wiki entry for ALDH3A1 (Aldehyde dehydrogenase 3 family, member A1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALDH3A1 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALDH3A1 promoter sequence
   Search Chromatin IP Primers for ALDH3A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALDH3A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.2

ALDH3A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALDH3A1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M019641:  view genomic region     (about GC identifiers)

Start:
19,641,297 bp from pter      End:
19,652,256 bp from pter
Size:
10,960 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: AL3A1_HUMAN, P30838 (See protein sequence)
Recommended Name: Aldehyde dehydrogenase, dimeric NADP-preferring  
Size: 453 amino acids; 50395 Da
Subunit: Homodimer
4 PDB 3D structures from and Proteopedia for ALDH3A1:
3SZA (3D)        3SZB (3D)        4H80 (3D)        4L2O (3D)    
Secondary accessions: A8K828 Q9BT37

Explore the universe of human proteins at neXtProt for ALDH3A1: NX_P30838

Explore proteomics data for ALDH3A1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ALDH3A1 (P30838) (see all 10)
     EKPLALY  TLELGGK  VTLELGG  VVLKPSE 


    See ALDH3A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000682.3  NP_001128639.1  NP_001128640.1  

    ENSEMBL proteins: 
     ENSP00000434685   ENSP00000378923   ENSP00000460482   ENSP00000225740   ENSP00000411821  
     ENSP00000389766   ENSP00000388369   ENSP00000458841   ENSP00000461189   ENSP00000460792  
     ENSP00000388469  

    ALDH3A1 Human Recombinant Protein Products:

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    ProSpec Recombinant Protein for ALDH3A1
    Cloud-Clone Corp. Proteins for ALDH3A1

     
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    antibodies-online peptides for ALDH3A1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ALDH: Aldehyde dehydrogenases

    Selected InterPro protein domains (see all 6):
     IPR016163 Ald_DH_C
     IPR016162 Ald_DH_N
     IPR012394 Aldehyde_DH_NAD(P)
     IPR016161 Ald_DH/histidinol_DH
     IPR015590 Aldehyde_DH_dom

    Graphical View of Domain Structure for InterPro Entry P30838

    ProtoNet protein and cluster: P30838

    UniProtKB/Swiss-Prot: AL3A1_HUMAN, P30838
    Similarity: Belongs to the aldehyde dehydrogenase family


    Find genes that share domains with ALDH3A1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AL3A1_HUMAN, P30838
    Function: ALDHs play a major role in the detoxification of alcohol-derived acetaldehyde. They are involved in the
    metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. This protein
    preferentially oxidizes aromatic aldehyde substrates. It may play a role in the oxidation of toxic aldehydes
    Catalytic activity: An aldehyde + NAD(P)(+) + H(2)O = a carboxylate + NAD(P)H
    Biophysicochemical properties: Kinetic parameters: Note=Has a high Km for acetaldehyde;

         Enzyme Numbers (IUBMB): EC 1.2.1.51 2 EC 1.2.12

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003995acyl-CoA dehydrogenase activity ----
    GO:00040283-chloroallyl aldehyde dehydrogenase activity IEA--
    GO:0004029aldehyde dehydrogenase (NAD) activity IDA1737758
    GO:0004030aldehyde dehydrogenase [NAD(P)+] activity IEA--
    GO:0008106alcohol dehydrogenase (NADP+) activity IDA1737758
         
    Find genes that share ontologies with ALDH3A1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ALDH3A1:
     Increased viability after born 

         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Aldh3a1):
     normal 

    Find genes that share phenotypes with ALDH3A1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Aldh3a1tm1Jpi for ALDH3A1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALDH3A1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ALDH3A1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ALDH3A1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ALDH3A1

    miRNA
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    hsa-mir-145-5p (MIRT021523)

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    SwitchGear 3'UTR luciferase reporter plasmidALDH3A1 3' UTR sequence
    Inhib. RNA
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    eBioscience FlowRNA Probe Sets ( VA6-13464) for ALDH3A1 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AL3A1_HUMAN, P30838: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    endoplasmic reticulum4
    mitochondrion2
    nucleus1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005737cytoplasm IDA--
    GO:0005783endoplasmic reticulum IDA--
    GO:0005829cytosol ISS--
    GO:0005886plasma membrane IDA--

    Find genes that share ontologies with ALDH3A1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ALDH3A1 About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Chemical carcinogenesis
    Chemical carcinogenesis0.71
    Drug metabolism - cytochrome P4500.69
    Metabolism of xenobiotics by cytochrome P4500.71
    2Phenylalanine metabolism
    Phenylalanine metabolism0.36
    Tyrosine metabolism0.36
    3Cyclophosphamide Pathway, Pharmacodynamics
    Cyclophosphamide Pathway, Pharmacodynamics
    Ifosfamide Pathway, Pharmacodynamics0.00
    4Glycolysis and gluconeogenesis short map
    Glycolysis / Gluconeogenesis0.46
    5Metabolism
    Metabolic pathways0.38


    Find genes that share SuperPaths with ALDH3A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for ALDH3A1
        Tyrosine metabolism p.1 (dopamine)

    2 BioSystems Pathways for ALDH3A1
        putrescine degradation III
    AhR pathway


    2 PharmGKB Pathways for ALDH3A1
        Cyclophosphamide Pathway, Pharmacodynamics
    Ifosfamide Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for ALDH3A1) (see all 9):
        Glycolysis / Gluconeogenesis
    Histidine metabolism
    Tyrosine metabolism
    Phenylalanine metabolism
    beta-Alanine metabolism

        Pathway & Disease-focused RT2 Profiler PCR Array including ALDH3A1: 
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ALDH3A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ALDH3A1 (P308383 ENSP000002257404) via UniProtKB, MINT, STRING, and/or I2D (see all 69)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MARCH6O603373I2D: score=3 
    NAP1L4Q997333I2D: score=3 
    PRPF40AO754003I2D: score=3 
    PIGMQ9H3S53I2D: score=2 
    PTPLBQ6Y1H23I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IEA--
    GO:0006081cellular aldehyde metabolic process IDA1737758
    GO:0007568aging IEA--
    GO:0007584response to nutrient IEA--
    GO:0008152metabolic process ----

    Find genes that share ontologies with ALDH3A1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ALDH3A1 (AL3A1)

    Selected HMDB Compounds for ALDH3A1 (see all 17)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3,4-Dihydroxybenzeneacetic acid(3,4-Dihydroxyphenyl)acetate (see all 23)102-32-9--
    3,4-Dihydroxymandelaldehyde3,4-Dihydroxyphenylglycolaldehyde (see all 4)13023-73-9--
    3,4-Dihydroxymandelic acid3,4 Dihydroxymandelate (see all 7)775-01-9--
    3,4-DihydroxyphenylacetaldehydeProtocatechuatealdehyde (see all 2)5707-55-1--
    3-Methoxy-4-hydroxyphenylglycolaldehydea,4-dihydroxy-3-methoxy-Benzeneacetaldehyde (see all 4)17592-23-3--
    Acetaldehydeacetaldehyde (see all 5)75-07-0--
    Acetic acidAcetate (see all 12)64-19-7--
    Homovanillic acid(4-Hydroxy-3-methoxyphenyl)acetate (see all 14)306-08-1--
    Homovanillin(4-Hydroxy-3-methoxyphenyl)acetaldehyde (see all 5)5703-24-2--
    Methylimidazole acetaldehyde1-Methylimidazole-4-acetaldehyde (see all 2)19639-03-3--

    2 DrugBank Compounds for ALDH3A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423 16583981
    Nicotinamide-Adenine-Dinucleotide-- 53-84-9target--10592235

    Selected Novoseek inferred chemical compound relationships for ALDH3A1 gene (see all 30)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    4-hydroxy-2-oxovalerate 92.1 6 7496535 (2), 10080921 (2), 12764229 (1), 8026764 (1)
    acetaldehyde 88.2 61 7496535 (2), 9795248 (2), 8375345 (2), 10080921 (2) (see all 39)
    aldophosphamide 87.2 6 8654195 (2), 8124665 (1)
    mafosfamide 84 6 8662659 (1), 8124665 (1), 11306049 (1), 9514081 (1) (see all 5)
    carboxyphosphamide 80.6 2 8654195 (1)
    4-hydroperoxycyclophosphamide 75.2 5 11306049 (2), 16614850 (1), 11749781 (1)
    benzaldehyde 73.9 7 15390260 (2), 8662659 (1), 8654195 (1), 8937651 (1)
    disulfiram 68.7 5 16462115 (1), 18281128 (1), 20082270 (1), 7907815 (1) (see all 5)
    propionaldehyde 63.8 1 12943535 (1)
    cyclophosphamide 59.4 24 11914911 (5), 18496131 (3), 9815579 (2), 8662659 (1) (see all 13)



    Find genes that share compounds with ALDH3A1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ALDH3A1 gene (3 alternative transcripts): 
    NM_000691.4  NM_001135167.1  NM_001135168.1  

    Unigene Cluster for ALDH3A1:

    Aldehyde dehydrogenase 3 family, member A1
    Hs.531682  [show with all ESTs]
    Unigene Representative Sequence: NM_001135168
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000468746 ENST00000395555 ENST00000479677(uc002gwk.3) ENST00000494157(uc002gwl.1)
    ENST00000225740(uc002gwj.3 uc010cqv.3) ENST00000457500(uc010cqu.3)
    ENST00000439102 ENST00000487650 ENST00000485472 ENST00000426645 ENST00000485231
    ENST00000575860 ENST00000574162 ENST00000573368 ENST00000570414 ENST00000575103
    ENST00000444455(uc010vzd.2)
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    Additional mRNA sequence: 

    AK225505.1 AK225513.1 AK292193.1 AK314584.1 BC004102.2 BC004370.1 BC008892.2 BC021194.2 
    BT007102.1 M74542.1 M77477.1 S61044.1 

    16 DOTS entries:

    DT.210467  DT.97810270  DT.92448591  DT.100791291  DT.100791293  DT.120934469  DT.95215654  DT.100791286 
    DT.95215655  DT.120934495  DT.97860716  DT.97860723  DT.100031684  DT.92448589  DT.92448593  DT.97817544 

    Selected AceView cDNA sequences (see all 377):

    BM771969 BM819555 BM672965 CB104583 BU169647 BU183352 BE615879 BE672958 
    BM767910 BM765770 AI638819 BM979497 AA315161 BM765762 CB104617 AI206189 
    AI341181 BM838769 BM725665 BX282935 NM_000691 AW593416 BM695327 BU728339 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ALDH3A1 (see all 20)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8a · 8b · 8c · 8d · 8e ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c · 11d ^
    SP1:                          -     -     -     -     -     -                 -     -                             -     -                                       
    SP2:                          -     -     -     -     -     -                 -     -                             -     -                                       
    SP3:                          -     -     -     -     -     -                 -     -                             -     -                                       
    SP4:                          -     -     -     -     -     -     -     -     -     -                             -     -                                       
    SP5:                          -     -     -     -     -     -     -     -     -     -                                                                           

    ExUns: 12a · 12b · 12c ^ 13a · 13b · 13c ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b
    SP1:  -     -                       -                                       
    SP2:  -     -                       -                 -                     
    SP3:  -     -           -     -     -     -                                 
    SP4:  -     -                       -                                       
    SP5:  -     -                       -                                       


    ECgene alternative splicing isoforms for ALDH3A1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ALDH3A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCCCAGGCC
    ALDH3A1 Expression
    About this image


    ALDH3A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Mature Endothelial Cells Corneal Endothelium
     
     Neural Crest (Gastrulation Derivatives)
             PureStem MEL2, NCr-fac Progenitor
     
     Epithelial Cells
             Adult Corneal Basal Epithelial Cells Corneal Epithelium
     
     Heart (Cardiovascular System)
             Atrioventricular Node Cells Atrioventricular Node
     
     Fibroblasts
             Keratocytes Corneal Stroma
    ALDH3A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALDH3A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.531682

    UniProtKB/Swiss-Prot: AL3A1_HUMAN, P30838
    Tissue specificity: High levels in stomach, esophagus and lung; low level in the liver and kidney

        Pathway & Disease-focused RT2 Profiler PCR Array including ALDH3A1: 
              Drug Metabolism: Phase I Enzymes in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ALDH3A1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aldh3a11 , 5 aldehyde dehydrogenase family 3, subfamily A11, 5 81.24(n)1
    80.35(a)1
      11 (37.96 cM)5
    116701  NM_007436.21  NP_031462.21 
     612075375 
    chicken
    (Gallus gallus)
    Aves ALDH3A26
    Gallus gallus aldehyde dehydrogenase 3 family, mem...
    61(a)
    1 → many
    19(6847091-6853176)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Aldehyde dehydrogenase
    56(a)
    1 → many
    GL344046.1(99700-107492)
    zebrafish
    (Danio rerio)
    Actinopterygii aldh3a2b6
    aldh3a2a6
    (see all 3)
    aldehyde dehydrogenase 3 family, member A2a
    (see all 3)
    54(a)
    53(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    21(37864576-37893353) ENSDARG00000029381
    15(19792310-19801405) ENSDARG00000028259
    fruit fly
    (Drosophila melanogaster)
    Insecta Aldh-III3 aldehyde dehydrogenase 50(a)   43C5   --
    worm
    (Caenorhabditis elegans)
    Secernentea alh-56
    alh-46
    Protein ALH-4, isoform a
    49(a)
    46(a)
    many ↔ many
    many ↔ many
    V(1996109-1999581) WBGene00000111
    V(6427211-6429927) WBGene00000110
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HFD1(YMR110C)4 Putative fatty aldehyde dehydrogenase, located in the more   --   13(491992-490394) 855137  NP_013828.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ALDH3H11 ALDH3H1 48.75(n)
    47.61(a)
      841020  NM_103541.3  NP_175081.1 
    rice
    (Oryza sativa)
    Liliopsida Os.55772 Oryza sativa (japonica cultivar-group) cDNA clone0 more 72.44(n)    AK068297.1 


    ENSEMBL Gene Tree for ALDH3A1 (if available)
    TreeFam Gene Tree for ALDH3A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ALDH3A1 gene
    ALDH3B12  ALDH3A22  ALDH3B22  
    5 SIMAP similar genes for ALDH3A1 using alignment to 10 protein entries:     AL3A1_HUMAN (see all proteins):
    DKFZp686E23276    ALDH3A2    ALDH3B2    ALDH3B1    ALDH2

    Find genes that share paralogs with ALDH3A1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ALDH3A1
    PGOHUM00000250406


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ALDH3A1 (see all 432)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2012534591,2
    --19027004(+) AGCCC-/CTCCCCC 3 -- int10--------
    rs1997879831,2
    --19027005(+) GCCCC-/TCCCCC 3 -- int10--------
    rs1169485351,2
    C,F--19629584(+) ACTATG/AACATC 3 -- ds50011Minor allele frequency- A:0.07EA 120
    rs763906061,2
    C,F--19629622(+) ATCGTC/TTCACA 3 -- ds50011Minor allele frequency- T:0.01NA 120
    rs1162693391,2
    F--19629639(+) CCCCTG/ACCCGA 3 -- ds50011Minor allele frequency- A:0.04WA 118
    rs607504451,2
    C,F--19629765(+) GACCTC/TCCCAA 3 -- ds50012Minor allele frequency- T:0.04WA 120
    rs285525451,2
    C,F--19629793(+) GTGTCA/CCCCTG 3 -- ds50011Minor allele frequency- C:0.14WA 118
    rs1427617641,2
    --19629807(+) CCGTGC/TATGGC 3 -- ds50010--------
    rs1460946871,2
    --19629950(+) CATTTG/TCTGAG 3 -- ut310--------
    rs10421831,2
    C,F,A,H--19629971(-) GAGACG/AAATAC 3 -- ut31 ese325Minor allele frequency- A:0.28MN NA NS EA WA 2650

    HapMap Linkage Disequilibrium report for ALDH3A1 (19641297 - 19652256 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ALDH3A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv457704CNV Loss19166990
    nsv526290CNV Loss19592680
    nsv470582CNV Loss18288195
    dgv3101n71CNV Loss21882294

    Locus Specific Mutation Databases (LSDB): ALDH3A1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ALDH3A1
    DNA2.0 Custom Variant and Variant Library Synthesis for ALDH3A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 100660    OMIM disorders: --

    4 diseases for ALDH3A1:    
    About MalaCards
    sjogren-larsson syndrome    breast adenocarcinoma    hepatocellular carcinoma    schizophrenia


    Find genes that share disorders with ALDH3A1           About GenesLikeMe

    7 Novoseek inferred disease relationships for ALDH3A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer metastatic 26.9 8 11320670 (3), 9815579 (2)
    hepatocellular carcinoma 20.8 4 7791543 (2), 1306115 (1)
    adenocarcinoma 19.9 6 11306049 (2), 7887982 (1), 9059607 (1), 8068047 (1) (see all 5)
    cancer 10.4 5 10469894 (1), 17543846 (1), 18536178 (1), 17590990 (1)
    breast cancer 0 4 11914911 (2), 11320670 (1)
    tumors 0 31 11320670 (5), 11914911 (4), 10469894 (2), 8654195 (2) (see all 10)
    carcinoma 0 1 8124665 (1)

    Genetic Association Database (GAD): ALDH3A1
    Human Genome Epidemiology (HuGE) Navigator: ALDH3A1 (12 documents)

    Export disorders for ALDH3A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ALDH3A1 gene, integrated from 10 sources (see all 149):
    (articles sorted by number of sources associating them with ALDH3A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human stomach aldehyde dehydrogenase cDNA and genomic cloning, primary structure, and expression in Escherichia coli. (PubMed id 1737758)1, 2, 3, 9 Hsu L.C.... Yoshida A. (J. Biol. Chem. 1992)
    2. Influence of polymorphisms of drug metabolizing enzymes (CYP2B6, CYP2C9, CYP2C19, CYP3A4, CYP3A5, GSTA1, GSTP1, ALDH1A1 and ALDH3A1) on the pharmacokinetics of cyclophosphamide and 4-hydroxycyclophosphamide. (PubMed id 18496131)1, 4, 9 Ekhart C....Huitema A.D. (Pharmacogenet. Genomics 2008)
    3. Mutations associated with Sjogren-Larsson syndrome. (PubMed id 9250352)1, 2, 9 Tsukamoto N.... Yoshida A. (Ann. Hum. Genet. 1997)
    4. Human stomach aldehyde dehydrogenase, ALDH3. (PubMed id 8493892)1, 2, 9 Hsu L.C. and Yoshida A. (Adv. Exp. Med. Biol. 1993)
    5. Relations between polymorphisms in drug-metabolising enzymes and toxicity of chemotherapy with cyclophosphamide, thiotepa and carboplatin. (PubMed id 18854779)1, 4, 9 Ekhart C....Huitema A.D. (Pharmacogenet. Genomics 2008)
    6. Childhood brain tumors, residential insecticide exposure, and pesticide metabolism genes. (PubMed id 20056567)1, 4 Searles Nielsen S....Mueller B.A. (Environ. Health Perspect. 2010)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. Genotype frequencies of selected drug metabolizing enzymes and ABC drug transporters among breast cancer patients on FAC chemotherapy. (PubMed id 20102361)1, 4 Afsar N.A....Cascorbi I. (amp 2010)
    9. Association study of genetic polymorphism in ABCC4 with cyclophosphamide-induced adverse drug reactions in breast cancer patients. (PubMed id 19696793)1, 4 Low S.K....Zembutsu H. (J. Hum. Genet. 2009)
    10. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (J. Hum. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 218 HGNC: 405 AceView: ALDH3A1 Ensembl:ENSG00000108602 euGenes: HUgn218
    ECgene: ALDH3A1 Kegg: 218 H-InvDB: ALDH3A1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ALDH3A1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ALDH3A1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ALDH3A1 gene:
    Search GeneIP for patents involving ALDH3A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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