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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ALDH3A1 Gene

protein-coding   GIFtS: 70
GCID: GC17M019641

Aldehyde Dehydrogenase 3 Family, Member A1


(Previous symbol: ALDH3)
  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Metabolism of xenobiotics by cytochrome P450 and Cyclophosphamide Pathway, Pharmacodynamics. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010718.16  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ALDH3A1 gene promoter:
         AML1a   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AL3A1_HUMAN, P30838 (See protein sequence)
Recommended Name: Aldehyde dehydrogenase, dimeric NADP-preferring  
Size: 453 amino acids; 50395 Da
Subunit: Homodimer
Subcellular location: Cytoplasm
2 PDB 3D structures from and Proteopedia for ALDH3A1:
3SZA (3D)        3SZB (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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P30838

  • 4/10 DME Specific Peptides for ALDH3A1 (P30838) (see all 10)
     EKPLALY  TLELGGK  VTLELGG  VVLKPSE 

    ALDH3A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ALDH3A1 Protein Expression
    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  

    Human Recombinant Protein Products for ALDH3A1: 
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    OriGene Protein Over-expression Lysate for ALDH3A1
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    Novus Biologicals ALDH3A1 Proteins
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    Sino Biological Recombinant Protein for ALDH3A1
    Sino Biological Cell Lysate for ALDH3A1 
    ProSpec Recombinant Protein for ALDH3A1
    Cloud-Clone Corp. Proteins for ALDH3A1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005783endoplasmic reticulum IDA--
    GO:0005829cytosol ISS--

    ALDH3A1 for ontologies           About GeneDecksing



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

    5/6 InterPro protein domains (see all 6):
     IPR016162 Ald_DH_N
     IPR012394 Aldehyde_DH_NAD(P)
     IPR016163 Ald_DH_C
     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


    ALDH3A1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/7 molecular function terms (GO ID links to tree view) (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
         
    ALDH3A1 for ontologies           About GeneDecksing


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

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

    ALDH3A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Aldh3a1tm1Jpi for ALDH3A1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ALDH3A1 
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       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 

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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ALDH3A1 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Drug metabolism - cytochrome P450
    Metabolism of xenobiotics by cytochrome P4500.77
    Drug metabolism - cytochrome P4500.73
    Chemical carcinogenesis0.77
    2Ifosfamide Pathway, Pharmacodynamics
    Ifosfamide Pathway, Pharmacodynamics0.72
    Cyclophosphamide Pathway, Pharmacodynamics0.72
    3Phenylalanine metabolism
    Phenylalanine metabolism0.36
    Tyrosine metabolism0.36
    4Tyrosine metabolism p.1 (dopamine)
    Tyrosine metabolism p.1 (dopamine)1.00
    5Glycolysis and gluconeogenesis (short map)
    Glycolysis / Gluconeogenesis0.46

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for ALDH3A1
        Tyrosine metabolism p.1 (dopamine)


    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

    5/9         Kegg Pathways  (Kegg details for ALDH3A1) (see all 9):
        Glycolysis / Gluconeogenesis
    Histidine metabolism
    Tyrosine metabolism
    Phenylalanine metabolism
    beta-Alanine metabolism


    ALDH3A1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ALDH3A1

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

    5/66 Interacting proteins for ALDH3A1 (P308383 ENSP000002257404) via UniProtKB, MINT, STRING, and/or I2D (see all 66)
    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): 5/12 biological process terms (GO ID links to tree view) (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 ----

    ALDH3A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ALDH3A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ALDH3A1 (AL3A1)

    10/17 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

    10/30 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)

    Search CenterWatch for drugs/clinical trials and news about ALDH3A1 / AL3A1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    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 

    24/377 AceView cDNA sequences (see all 377):

    AI638819 BM695327 AW950179 BU728339 BM771969 BM836078 BM791283 AI206189 
    BX282935 AW593416 BE672958 CB104617 BM664979 BM725665 CD014085 AI341181 
    BU183352 BU676804 BM765762 BM979497 BU169647 BM753186 BM765770 BE615879 

    GeneLoc Exon Structure

    5/20 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ALDH3A1 expression in normal human tissues (normalized intensities)      ALDH3A1 embryonic expression: see
    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 
     5/9 selected tissues (see all 9) fully expand
     
     Lung (Respiratory System)    fully expand to see all 3 entries
             Human Bronchial Epithelial Cells (HBEpiC)   
             Trachea   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             Normal Human Articular chondrocytes (NHAC)   
     
     Epithelium (Uncategorized)    fully expand to see all 3 entries
             Human Bronchial Epithelial Cells (HBEpiC)   
     
     Eye (Sensory Organs)
             Human corneal endothelial cells
     
     Esophagus (Gastrointestinal Tract)
             Human Esophageal Epithelial Cells (HEEpiC)   

    See ALDH3A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALDH3A1

    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

        SABiosciences Expression via Pathway-Focused 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

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ALDH3A1 gene from 9/18 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_001112725.11  NP_001106196.11 
     612075375 
    chicken
    (Gallus gallus)
    Aves ALDH3A26
    fatty aldehyde dehydrogenase
    53(a)
    1 → many
    19(6847091-6853176)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    48(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)
    47(a)
    46(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    21(37864576-37893353)
    15(19792310-19801405)
    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
    42(a)
    40(a)
    many ↔ many
    many ↔ many
    V(1996109-1999581)
    V(6427211-6429927)
    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 ALDH3I11 aldehyde dehydrogenase 3I1 47.65(n)
    45.68(a)
      829573  NM_119588.5  NP_567962.1 
    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)
    About This Section
    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

    ALDH3A1 for paralogs           About GeneDecksing


    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/432 SNPs in ALDH3A1 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 100660    OMIM disorders: --

    20/32 diseases for ALDH3A1 (see all 32):    About MalaCards
    sjogren-larsson syndrome    breast adenocarcinoma    alcoholic hepatitis    mucoepidermoid carcinoma
    paranoid schizophrenia    pterygium    smith magenis syndrome    alcoholism
    hepatitis b virus infection    keratoconus    autism spectrum disorder    alcohol dependence
    hepatitis b    oral cancer    duodenitis    hepatocellular carcinoma
    cataract    cytochrome p450    schizophrenia    hepatitis


    ALDH3A1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for ALDH3A1 gene, integrated from 9 sources (see all 147):
    (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. (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. (2008)
    3. Mutations associated with Sjogren-Larsson syndrome. (PubMed id 9250352)1, 2, 9 Tsukamoto N.... Yoshida A. (1997)
    4. Human stomach aldehyde dehydrogenase, ALDH3. (PubMed id 8493892)1, 2, 9 Hsu L.C. and Yoshida A. (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. (2008)
    6. Childhood brain tumors, residential insecticide expos ure, and pesticide metabolism genes. (PubMed id 20056567)1, 4 Nielsen S.S....Mueller B.A. (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. (2010)
    8. Genotype frequencies of selected drug metabolizing en zymes and ABC drug transporters among breast cancer patients on FAC chemotherap y. (PubMed id 20102361)1, 4 Afsar N.A....Cascorbi I. (2010)
    9. Association study of genetic polymorphism in ABCC4 wi th cyclophosphamide-induced adverse drug reactions in breast cancer patients. (PubMed id 19696793)1, 4 Low S.K....Zembutsu H. (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. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 218 HGNC: 405 AceView: ALDH3A1 Ensembl:ENSG00000108602 euGenes: HUgn218
    ECgene: ALDH3A1 Kegg: 218 H-InvDB: ALDH3A1

    (According to HUGE)
    About This Section
      --

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