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ALDH9A1 Gene

protein-coding   GIFtS: 67
GCID: GC01M165632

Aldehyde Dehydrogenase 9 Family, Member A1


(Previous symbols: ALDH7, ALDH4, ALDH9)
  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)
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Aliases
Aldehyde Dehydrogenase 9 Family, Member A11 2     E32 5
ALDH91 2 3 5     4-Trimethylaminobutyraldehyde Dehydrogenase2
ALDH41 2 3     Aldehyde Dehydrogenase (NAD+)2
ALDH71 2 3     EC 1.2.1.193
Aldehyde Dehydrogenase E3 Isozyme2 3     EC 1.2.1.33
Aldehyde Dehydrogenase Family 9 Member A12 3     EC 1.2.1.473
Gamma-Aminobutyraldehyde Dehydrogenase2 3     EC 1.2.18
TMABADH2 3     EC 1.2.1.88
R-Aminobutyraldehyde Dehydrogenase2 3     

External Ids:    HGNC: 4121   Entrez Gene: 2232   Ensembl: ENSG000001431497   OMIM: 6027335   UniProtKB: P491893   

Export aliases for ALDH9A1 gene to outside databases

Previous GC identifers: GC01M163266 GC01M161282 GC01M162327 GC01M162818 GC01M162363 GC01M163899 GC01M136878


(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 ALDH9A1 Gene:
This protein belongs to the aldehyde dehydrogenase family of proteins. It has a high activity for oxidation of
gamma-aminobutyraldehyde and other amino aldehydes. The enzyme catalyzes the dehydrogenation of
gamma-aminobutyraldehyde to gamma-aminobutyric acid (GABA). This isozyme is a tetramer of identical 54-kD
subunits. (provided by RefSeq, Jul 2008)

GeneCards Summary for ALDH9A1 Gene:
ALDH9A1 (aldehyde dehydrogenase 9 family, member A1) is a protein-coding gene. Diseases associated with ALDH9A1 include hangover, and fetal alcohol spectrum disorder. GO annotations related to this gene include aminobutyraldehyde dehydrogenase activity and aldehyde dehydrogenase (NAD) activity. An important paralog of this gene is ALDH1L2.

UniProtKB/Swiss-Prot: AL9A1_HUMAN, P49189
Function: Converts gamma-trimethylaminobutyraldehyde into gamma-butyrobetaine. Catalyzes the irreversible
oxidation of a broad range of aldehydes to the corresponding acids in an NAD-dependent reaction

Gene Wiki entry for ALDH9A1 (Aldehyde dehydrogenase 9 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:
NC_000001.11  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALDH9A1 gene promoter:
         GR   NRSF form 1   GR-beta   Lmo2   LCR-F1   POU3F2   NRSF form 2   E47   deltaCREB   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALDH9A1 promoter sequence
   Search Chromatin IP Primers for ALDH9A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALDH9A1


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

Entrez Gene cytogenetic band: 1q23.1   Ensembl cytogenetic band:  1q24.1   HGNC cytogenetic band: 1q22-q23

ALDH9A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALDH9A1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M165632:  view genomic region     (about GC identifiers)

Start:
165,631,449 bp from pter      End:
165,668,100 bp from pter
Size:
36,652 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AL9A1_HUMAN, P49189 (See protein sequence)
Recommended Name: 4-trimethylaminobutyraldehyde dehydrogenase  
Size: 494 amino acids; 53802 Da
Subunit: Homotetramer
Developmental stage: Strongly expressed in human embryonic brain (gestational age 12 weeks)
Sequence caution: Sequence=CAH74061.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: B2R6X1 Q5VV90 Q6LCL1 Q9NZT7

Explore the universe of human proteins at neXtProt for ALDH9A1: NX_P49189

Explore proteomics data for ALDH9A1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys30, Lys68
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ALDH9A1 (P49189) (see all 10)
     TGSVPTG  TLELGGK  VTLELGG  KSAPALA 


    See ALDH9A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000687.3  
    ENSEMBL proteins: 
     ENSP00000346827   ENSP00000440026  
    Reactome Protein details: P49189

    ALDH9A1 Human Recombinant Protein Products:

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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

    5 InterPro protein domains:
     IPR016163 Ald_DH_C
     IPR016162 Ald_DH_N
     IPR016161 Ald_DH/histidinol_DH
     IPR015590 Aldehyde_DH_dom
     IPR016160 Ald_DH_CS

    Graphical View of Domain Structure for InterPro Entry P49189

    ProtoNet protein and cluster: P49189

    1 Blocks protein domain: IPB002086 Aldehyde dehydrogenase

    UniProtKB/Swiss-Prot: AL9A1_HUMAN, P49189
    Similarity: Belongs to the aldehyde dehydrogenase family


    ALDH9A1 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AL9A1_HUMAN, P49189
    Function: Converts gamma-trimethylaminobutyraldehyde into gamma-butyrobetaine. Catalyzes the irreversible
    oxidation of a broad range of aldehydes to the corresponding acids in an NAD-dependent reaction
    Catalytic activity: 4-trimethylammoniobutanal + NAD(+) + H(2)O = 4-trimethylammoniobutanoate + NADH
    Catalytic activity: An aldehyde + NAD(+) + H(2)O = a carboxylate + NADH
    Catalytic activity: 4-aminobutanal + NAD(+) + H(2)O = 4-aminobutanoate + NADH
    Biophysicochemical properties: Kinetic parameters: KM=11 uM for 4-aminobutyraldehyde; pH dependence: Optimum pH is
    about 9.4 with propionaldehyde as substrate, and 7.5 with 4-aminobutyraldehyde as substrate;

         Enzyme Numbers (IUBMB): EC 1.2.1.471 EC 1.2.12 EC 1.2.1.82 EC 1.2.1.31 EC 1.2.1.191

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00040283-chloroallyl aldehyde dehydrogenase activity TAS--
    GO:0004029aldehyde dehydrogenase (NAD) activity IDA2925663
    GO:0016491oxidoreductase activity ----
    GO:0016620oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor ----
    GO:0019145aminobutyraldehyde dehydrogenase activity IDA2925663
         
    ALDH9A1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ALDH9A1:
     Decreased melanin production  Increased S DNA content 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALDH9A1
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    miRNA
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    miRTarBase miRNAs that target ALDH9A1:
    hsa-mir-27a-3p (MIRT028704), hsa-mir-155-5p (MIRT020624), hsa-mir-215-5p (MIRT024328), hsa-mir-128-3p (MIRT045873), hsa-mir-100-5p (MIRT048479), hsa-mir-124-3p (MIRT002631), hsa-mir-34a-5p (MIRT025249), hsa-mir-497-5p (MIRT041186), hsa-mir-192-5p (MIRT026254), hsa-mir-92a-3p (MIRT049809)

    Block miRNA regulation of human, mouse, rat ALDH9A1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate ALDH9A1:
    hsa-miR-124 hsa-miR-2117 hsa-miR-506 hsa-miR-4273
    SwitchGear 3'UTR luciferase reporter plasmidALDH9A1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ALDH9A1

    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDH9A1


    (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
    AL9A1_HUMAN, P49189: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    plasma membrane4
    mitochondrion3
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS2925663
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane ----
    GO:0070062extracellular vesicular exosome IDA19056867

    ALDH9A1 for ontologies           About GeneDecksing


    (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 ALDH9A1 About   (see all 17)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    L-carnitine biosynthesis0.00
    Carnitine synthesis0.00
    2Tryptophan metabolism
    Tryptophan metabolism0.46
    Tryptophan metabolism0.46
    3Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    4Valine, leucine and isoleucine degradation
    Valine, leucine and isoleucine degradation0.31
    Propanoate metabolism0.31
    5Glucuronidation
    Ascorbate and aldarate metabolism0.61

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 GeneGo (Thomson Reuters) Pathways for ALDH9A1
        Tyrosine metabolism p.1 (dopamine)
    Retinol metabolism
    Beta-alanine metabolism

    3 BioSystems Pathways for ALDH9A1
        L-carnitine biosynthesis
    Validated targets of C-MYC transcriptional repression
    Tryptophan metabolism


    1 Reactome Pathway for ALDH9A1
        Carnitine synthesis


    Selected Kegg Pathways  (Kegg details for ALDH9A1) (see all 13):
        Glycolysis / Gluconeogenesis
    Ascorbate and aldarate metabolism
    Fatty acid degradation
    Valine, leucine and isoleucine degradation
    Lysine degradation

    UniProtKB/Swiss-Prot: AL9A1_HUMAN, P49189
    Pathway: Amine and polyamine biosynthesis; carnitine biosynthesis


    ALDH9A1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ALDH9A1: 

              Amino Acid Metabolism I in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ALDH9A1

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

    Selected Interacting proteins for ALDH9A1 (P491893 ENSP000003468274) via UniProtKB, MINT, STRING, and/or I2D (see all 66)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GBASO753233, ENSP000003130504I2D: score=2 STRING: ENSP00000313050
    HLA-BP304803, ENSP000003991684I2D: score=1 STRING: ENSP00000399168
    TNIP3Q96KP63, ENSP000000575134I2D: score=1 STRING: ENSP00000057513
    TNFAIP3P215803, ENSP000002372894I2D: score=1 STRING: ENSP00000237289
    USP46P620683, ENSP000004078184I2D: score=2 STRING: ENSP00000407818
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001822kidney development IEA--
    GO:0001889liver development IEA--
    GO:0006081cellular aldehyde metabolic process IDA8645224
    GO:0008152metabolic process ----
    GO:0009437carnitine metabolic process ----

    ALDH9A1 for ontologies           About GeneDecksing



    (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 ALDH9A1 (AL9A1)

    Selected HMDB Compounds for ALDH9A1 (see all 39)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (S)-Methylmalonic acid semialdehyde(S)-Methylmalonate semialdehyde (see all 3)99043-16-0--
    2-Propyn-1-al ----
    20-Oxo-leukotriene E420-oxo-LTE(,4) (see all 3)----
    20-oxo-leukotriene B420-carboxyleukotriene B4 ----
    3-Butyn-1-al 52844-23-2--
    3a,7a-Dihydroxy-5b-cholestan-26-al3a,7a-Dihydroxy-5b-cholestan-26-al;3alpha,7alpha-dihydroxy-5beta-cholestan-27-al;5beta-cholestane-3alpha,7alpha-diol-27-al;5beta-cholestan-27-al-3alpha,7alpha-diol ----
    4-Acetamidobutanoic acidN-Acetyl-4-aminobutanoate (see all 11)3025-96-5--
    4-Aminobutyraldehyde4-amino-butanal (see all 5)4390-05-0--
    4-Trimethylammoniobutanal4-Trimethylammoniobutanal (see all 5)64595-66-0--
    4-Trimethylammoniobutanoic acid4-(N-Trimethylamino)butyrate (see all 8)407-64-7--

    2 DrugBank Compounds for ALDH9A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423 7584606 3129020
    Nicotinamide-Adenine-Dinucleotide-- 53-84-9target--10592235

    Selected Novoseek inferred chemical compound relationships for ALDH9A1 gene (see all 120)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acetaldehyde 92.6 101 8452208 (3), 9010546 (3), 1944390 (2), 1817808 (2) (see all 81)
    gamma-aminobutyraldehyde 87.5 17 8645224 (2), 8786138 (2), 8269919 (2), 1799975 (2) (see all 9)
    aldophosphamide 85.9 6 1868438 (2), 8424816 (1), 10856427 (1), 7646546 (1)
    3,4-dihydroxyphenylacetaldehyde 85.5 3 17379813 (2), 19388687 (1)
    propionaldehyde 82.3 5 11306037 (1), 2222842 (1), 2285314 (1), 2375753 (1) (see all 5)
    betaine aldehyde 82.2 13 10505788 (2), 7646513 (1), 14523561 (1), 11306043 (1) (see all 7)
    disulfiram 81.4 29 9514292 (2), 19500061 (2), 8947325 (1), 10923997 (1) (see all 20)
    ethanol 77.6 108 17236798 (4), 8452208 (3), 15536764 (2), 11095510 (2) (see all 89)
    mafosfamide 76.6 4 8424816 (1), 9698086 (1), 1868438 (1)
    retinaldehyde 76.2 7 10559215 (4), 15299009 (1), 19112849 (1), 19011747 (1)



    ALDH9A1 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ALDH9A1 gene: 
    NM_000696.3  

    Unigene Cluster for ALDH9A1:

    Aldehyde dehydrogenase 9 family, member A1
    Hs.2533  [show with all ESTs]
    Unigene Representative Sequence: U34252
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000354775(uc010pky.1 uc010pla.1 uc010pkz.1 uc001gdh.1)
    ENST00000463610 ENST00000491436 ENST00000461664 ENST00000471457 ENST00000538148

    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate ALDH9A1:
    hsa-miR-124 hsa-miR-2117 hsa-miR-506 hsa-miR-4273
    SwitchGear 3'UTR luciferase reporter plasmidALDH9A1 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat ALDH9A1
      QuantiFast Probe-based Assays in human, mouse, rat ALDH9A1

    Additional mRNA sequence: 

    AF172093.1 AK293520.1 AK301767.1 AK302183.1 AK302191.1 AK302654.1 AK312751.1 BC011410.1 
    BC070030.1 BC151140.1 BC151141.1 U34252.1 U50203.1 X75425.1 

    23 DOTS entries:

    DT.95145139  DT.95145053  DT.95145159  DT.117231  DT.97781660  DT.40316267  DT.100653214  DT.95145121 
    DT.121359499  DT.91755558  DT.99991180  DT.100646858  DT.100837235  DT.95145180  DT.100651091  DT.100857542 
    DT.100868276  DT.121359495  DT.121359551  DT.95145043  DT.95145054  DT.95145217  DT.95376855 

    Selected AceView cDNA sequences (see all 364):

    BM665065 BU731509 BM716842 CR615650 BM694973 BG167820 BG576181 BM824745 
    AU146044 AI080215 BG254929 AI627660 AL041710 D79934 AW244164 BQ009929 
    BX487058 AF172093 BI222296 CD107252 AU129705 BG674822 AI929634 BQ001032 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ALDH9A1    About this scheme

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


    ECgene alternative splicing isoforms for ALDH9A1

    (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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    ALDH9A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTACTCTTTC
    ALDH9A1 Expression
    About this image


    ALDH9A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Bone (Muscoskeletal System)
             Bone Marrow
    ALDH9A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALDH9A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.2533

    UniProtKB/Swiss-Prot: AL9A1_HUMAN, P49189
    Tissue specificity: High expression in adult liver, skeletal muscle, and kidney. Low levels in heart, pancreas,
    lung and brain. Expressed in all regions of the brain. Expression levels are variable in the different brain
    areas, with the highest levels in the spinal cord and the lowest in the occipital pole

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ALDH9A1: 
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for ALDH9A1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aldh9a11 , 5 aldehyde dehydrogenase 9, subfamily A11, 5 84.62(n)1
    88.61(a)1
      1 (74.74 cM)5
    567521  NM_019993.31  NP_064377.21 
     1673499915 
    chicken
    (Gallus gallus)
    Aves ALDH9A11 aldehyde dehydrogenase 9 family, member A1 76.11(n)
    81.84(a)
      424405  XM_422248.4  XP_422248.3 
    lizard
    (Anolis carolinensis)
    Reptilia ALDH9A16
    aldehyde dehydrogenase 9 family, member A1
    82(a)
    1 ↔ 1
    4(73921938-73943071)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC526972 similar to aldehyde dehydrogenase 9 family, member more 73.93(n)    BC044080.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.19042 Danio rerio cDNA clone MGC56131 IMAGE5411836, complete more 75.98(n)    BC045932.1 
    worm
    (Caenorhabditis elegans)
    Secernentea alh-121 alh-12 56.9(n)
    51.08(a)
      176056  NM_001027759.2  NP_001022930.1 


    ENSEMBL Gene Tree for ALDH9A1 (if available)
    TreeFam Gene Tree for ALDH9A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ALDH9A1 gene
    ALDH1L22  ALDH1A12  ENSG000002577672  ALDH1A22  ALDH1B12  ALDH7A12  ALDH6A12  ALDH22  
    ALDH8A12  ALDH1A32  ALDH1L12  
    12 SIMAP similar genes for ALDH9A1 using alignment to 3 protein entries:     AL9A1_HUMAN (see all proteins):
    ALDH2    ALDH1B1    ALDH1A3    DKFZp686G1675    ALDH1L1    ALDH8A1
    ALDH1A2    ALDH1L2    ALDH1A1    ALDH5A1    ALDH6A1    ALDH7A1

    ALDH9A1 for paralogs           About GeneDecksing



    (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 ALDH9A1 (see all 954)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs18900791,2
    C--136887150(-) TTTTTA/TAAAAA 1 -- int1 trp30--------
    rs1480530851,2
    C--136887672(+) AGCTA-/C/CT  
            
    TAGGA
    1 -- int10--------
    rs3768068461,2
    C--136887673(+) CAGCT-/C/CT  
            
    AGGAG
    1 -- int10--------
    rs2001846701,2
    C--136889819(+) AAAAA-/CAAAAA 1 -- int10--------
    rs1115472331,2
    C,F--136894426(+) CCAGGC/AGTGGT 1 -- int11Minor allele frequency- A:0.50WA 2
    rs618004221,2
    C,F--136894514(+) TGAGCT/CGAGAT 1 -- int12Minor allele frequency- C:0.25NA 4
    rs575090591,2
    C--136895464(+) ATCAT-/GTTTGT 1 -- int10--------
    rs1395581091,2
    C--136896939(+) CTAAG-/ACACATC 1 -- int10--------
    rs348464581,2
    C--136900011(+) CCTCGTTAA/-  
            
    TTAAT
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1135545151,2
    C--136904725(+) AAAGA-/AATT  
            
    AATTA
    1 -- int11Minor allele frequency- AATT:0.00CSA 2

    HapMap Linkage Disequilibrium report for ALDH9A1 (165631449 - 165668100 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ALDH9A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1624307CNV Insertion17803354
    esv2555363CNV Insertion19546169
    esv33411CNV Loss17666407
    esv33567CNV Loss17666407
    esv33662CNV Gain17666407

    Locus Specific Mutation Databases (LSDB): ALDH9A1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ALDH9A1
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    (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.)
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    OMIM gene information: 602733    OMIM disorders: --

    Selected diseases for ALDH9A1 (see all 61):    
    About MalaCards
    hangover    fetal alcohol spectrum disorder    succinic semialdehyde dehydrogenase deficiency    alcohol abuse
    alcohol dependence    anoxia    cardiovascular disease risk factor    pleurisy
    toxic epidermal necrolysis    tardive dyskinesia    alcoholic hepatitis    breast adenocarcinoma
    uterine fibroid    eating disorder    pharyngitis    liver cirrhosis
    migraine    medulloblastoma    cataract    esophageal cancer


    ALDH9A1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for ALDH9A1 gene (see all 42)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alcoholism 78.5 60 9463245 (4), 15863807 (3), 9066994 (2), 8947325 (1) (see all 48)
    liver diseases alcoholic 54.8 2 14636437 (1)
    alcohol abuse 51.3 4 15164086 (1), 2408260 (1), 1781298 (1), 15084894 (1)
    pancreatitis alcoholic 41.1 1 8986224 (1)
    cancer 35.9 24 18536178 (2), 19500061 (2), 19075754 (1), 9893619 (1) (see all 19)
    alcohol intoxication 33 1 15777233 (1)
    alcoholic cirrhosis 29.9 1 1592339 (1)
    sterility male 21.4 1 8650543 (1)
    genetic susceptibility 20.5 2 16324524 (1), 1937384 (1)
    intoxication 19.8 2 11392120 (1), 15523881 (1)

    Genetic Association Database (GAD): ALDH9A1
    Human Genome Epidemiology (HuGE) Navigator: ALDH9A1 (6 documents)

    Export disorders for ALDH9A1 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 ALDH9A1 gene, integrated from 10 sources (see all 591):
    (articles sorted by number of sources associating them with ALDH9A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human gamma-aminobutyraldehyde dehydrogenase (ALDH9): cDNA sequence, genomic organization, polymorphism, chromosomal localization, and tissue expression. (PubMed id 8786138)1, 2, 3, 9 Lin S.W.... Yoshida A. (Genomics 1996)
    2. Human aldehyde dehydrogenase. cDNA cloning and primary structure of the enzyme that catalyzes dehydrogenation of 4-aminobutyraldehyde. (PubMed id 8269919)1, 2, 9 Kurys G....Pietruszko R. (Eur. J. Biochem. 1993)
    3. Aldehyde dehydrogenase from adult human brain that dehydrogenates gamma-aminobutyraldehyde: purification, characterization, cloning and distribution. (PubMed id 8645224)1, 2, 9 Kikonyogo A. and Pietruszko R. (Biochem. J. 1996)
    4. Human aldehyde dehydrogenase: chromosomal assignment of the gene for the isozyme that metabolizes gamma-aminobutyraldehyde. (PubMed id 8112751)1, 3, 9 McPherson J.D....Pietruszko R. (Hum. Genet. 1994)
    5. 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)
    6. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    7. 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)
    8. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. (PubMed id 19064610)1, 4 Cheung C.L....Kung A.W. (Hum. Mol. Genet. 2009)
    9. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PubMed id 19536175)1, 4 Ehret G.B....Chakravarti A. (Eur. J. Hum. Genet. 2009)
    10. Pathway-based association analysis of genome-wide screening data suggest that genes associated with the gamma-aminobutyric acid receptor signaling pathway are involved in neuroleptic-induced, treatment-resistant tardive dyskinesia. (PubMed id 18334916)1, 4 Inada T....Arinami T. (Pharmacogenet. Genomics 2008)

    (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: 223 HGNC: 412 AceView: ALDH9A1 Ensembl:ENSG00000143149 euGenes: HUgn223
    ECgene: ALDH9A1 Kegg: 223 H-InvDB: ALDH9A1

    (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 ALDH9A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ALDH9A1 gene:
    Search GeneIP for patents involving ALDH9A1

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



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