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

ALDH9A1 Gene

protein-coding   GIFtS: 66
GCID: GC01M165632

aldehyde dehydrogenase 9 family, member A1


(Previous symbols: ALDH7, ALDH4, ALDH9)
 Explore 65 diseases affiliated with
ALDH9A1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ALDH9A1    

Aliases
for ALDH9A1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Aldehyde Dehydrogenase 9 Family, Member A11 2     R-Aminobutyraldehyde Dehydrogenase2 3
ALDH91 2 3 5     4-Trimethylaminobutyraldehyde Dehydrogenase2
ALDH41 2 3     Aldehyde Dehydrogenase (NAD+)2
ALDH71 2 3     EC 1.2.1.193
E31 2 5     EC 1.2.1.33
Aldehyde Dehydrogenase E3 Isozyme2 3     EC 1.2.1.473
Aldehyde Dehydrogenase Family 9 Member A12 3     EC 1.2.18
Gamma-Aminobutyraldehyde Dehydrogenase2 3     EC 1.2.1.88
TMABADH2 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


Summaries
for ALDH9A1 gene

(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 ALDH9A1:
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)

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)


Genomic Views
for ALDH9A1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences 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 plasmid: ALDH9A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ALDH9A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for ALDH9A1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: AL9A1_HUMAN, P49189 (See protein sequence)
Recommended Name: 4-trimethylaminobutyraldehyde dehydrogenase  
Size: 494 amino acids; 53802 Da
Subunit: Homotetramer
Subcellular location: Cytoplasm (By similarity)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P49189

    • 4/10 DME Specific Peptides for ALDH9A1 (P49189) (see all 10)
     TGSVPTG  TLELGGK  VTLELGG  KSAPALA 

    ALDH9A1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000687.3  
    ENSEMBL proteins: 
     ENSP00000346827   ENSP00000440026  
    Reactome Protein details: P49189
    Human Recombinant Protein Products: 
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    Novus Biologicals ALDH9A1 Proteins
    Novus Biologicals ALDH9A1 Lysates
    Browse Sino Biological Recombinant Proteins
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    Uscn Proteins for ALDH9A1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS2925663
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA--


    ALDH9A1 for ontologies           About GeneDecksing



    ALDH9A1 Antibody Products: 
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    Uscn ELISAs and CLIAs for ALDH9A1

    Protein Domains /
    Families
    for ALDH9A1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ALDH9A1 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR016162 Ald_DH_N
     IPR016163 Ald_DH_C
     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 family: IPB002086 Aldehyde dehydrogenase

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


    Function
    for ALDH9A1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    hsa-mir-124 (MIRT002631)

    OriGene 3'-UTR Clone: ALDH9A1
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    4 QIAGEN miScript miRNA Assays for microRNAs that regulate ALDH9A1:
    hsa-miR-124 hsa-miR-2117 hsa-miR-506 hsa-miR-4273
    SwitchGear 3'UTR luciferase reporter plasmid: ALDH9A1 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: ALDH9A1
    OriGene siRNA: ALDH9A1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ALDH9A1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ALDH9A1

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALDH9A1 (see all 3)
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    Search LifeMap BioReagents cell lines for ALDH9A1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDH9A1

    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00040283-chloroallyl aldehyde dehydrogenase activity TAS--
    GO:0004029aldehyde dehydrogenase (NAD) activity IDA2925663
    GO:0016620oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor ----
    GO:0019145aminobutyraldehyde dehydrogenase activity IDA2925663
    GO:00337371-pyrroline dehydrogenase activity IEA--


    ALDH9A1 for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for ALDH9A1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/18 super-pathways (see all 18) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Retinol metabolism
    		Retinol metabolism1.00
    		Retinol metabolism0.95
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3Beta-alanine metabolism
    		Beta-alanine metabolism1.00
    		Beta-alanine metabolism0.90
    4L-carnitine biosynthesis
    		L-carnitine biosynthesis1.00
    		Carnitine synthesis0.75
    5Tryptophan metabolism
    		Tryptophan metabolism1.00
    		Tryptophan metabolism0.47

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 EMD Millipore Pathways for ALDH9A1
        Beta-alanine metabolism
    Retinol metabolism
    Tyrosine metabolism p.1 (dopamine)


    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
    Tryptophan metabolism
    Validated targets of C-MYC transcriptional repression

    3        Reactome Pathways for ALDH9A1
        Carnitine synthesis
    Metabolism
    Metabolism of amino acids and derivatives


    5/13         Kegg Pathways  (Kegg details for ALDH9A1) (see all 13):
        Glycolysis / Gluconeogenesis
    Ascorbate and aldarate metabolism
    Fatty acid metabolism
    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ALDH9A1

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

    5/63 Interacting proteins for ALDH9A1 (P491893 ENSP000003468274) via UniProtKB, MINT, STRING, and/or I2D (see all 63)

    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): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001822kidney development ----
    GO:0001889liver development ----
    GO:0006081cellular aldehyde metabolic process IDA8645224
    GO:0009437carnitine metabolic process ----
    GO:0034641cellular nitrogen compound metabolic process TAS--


    ALDH9A1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ALDH9A1 gene

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

    ALDH9A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ALDH9A1

    10/39 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

    10/120 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about ALDH9A1 / AL9A1 

    Transcripts
    for ALDH9A1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    hsa-miR-124 hsa-miR-2117 hsa-miR-506 hsa-miR-4273
    SwitchGear 3'UTR luciferase reporter plasmid: ALDH9A1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ALDH9A1 (see all 7)
    OriGene shRNA RFP: ALDH9A1
    OriGene siRNA: ALDH9A1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ALDH9A1
    Clone
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    Primer
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    Additional cDNA 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 

    24/364 AceView cDNA sequences (see all 364):

    AI373094 AU146044 BM695690 AU279872 CA867837 BX427842 AW244164 BU184595 
    CD107252 CD014088 AI276543 AU125732 CA868593 BM694973 AW512945 AI263861 
    BG576181 CB250531 BM716842 D79934 BC011410 BF672187 BI261032 BI222296 

    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

    Expression
    for ALDH9A1 gene

    (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

    ALDH9A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTACTCTTTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See ALDH9A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALDH9A1

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including ALDH9A1: 
              Amino Acid Metabolism I in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

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    In Situ
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    Orthologs
    for ALDH9A1 gene

    (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 last universal common ancestor (LUCA).

    Orthologs for ALDH9A1 gene from 6/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ALDH9A11 aldehyde dehydrogenase 9 family, member A1 76.11(n)
    81.84(a)    		   424405  XM_422248.3  XP_422248.2 
    lizard
    (Anolis carolinensis)    		 Reptilia ALDH9A16
    		 --
    		 79(a)
    		 1 ↔ 1
    		 4(73923849-73942304)
    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 Protein ALH-12 57.04(n)
    51.08(a)    		   176056  NM_001027759.1  NP_001022930.1 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria betB6
    		 betaine aldehyde dehydrogenase, NAD-dependent
    		 51(a)
    		 1 ↔ 1
    		 Chromosome(326485-327957)


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

    Paralogs
    for ALDH9A1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ALDH9A1 gene
    ALDH1L22  ALDH1A12  ENSG000002577672  ALDH1A22  ALDH1B12  ALDH7A12  ALDH22  ALDH16A12  
    ALDH8A12  ALDH1L12  ALDH1A32  
    12 SIMAP similar genes for ALDH9A1 using alignment to 3 protein entries:     AL9A1_HUMAN (see all proteins):
    ALDH2    ALDH1B1    ALDH1A3    DKFZp686G1675    ALDH1A2    ALDH1L1
    ALDH8A1    ALDH1L2    ALDH1A1    ALDH5A1    ALDH6A1    ALDH7A1

    ALDH9A1 for paralogs           About GeneDecksing



    Genomic Variants
    for ALDH9A1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/792 NCBI SNPs in ALDH9A1 are shown (see all 792)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs412675661,2
    		C,F,--136878760(+) AACATG/AGAGCC 1 -- ds50014Minor allele frequency- A:0.05CSA WA EA 242
    rs115061,2
    		C,F,O,A,H,--136878979(-) AATTAT/CTTGTA 1 -- ut3118Minor allele frequency- C:0.04EA MN NS NA CSA 3512
    rs91641,2
    		C,F,--136879197(-) AAGCTA/GTNNNN 1 -- ut312Minor allele frequency- G:0.01MN NA 304
    rs743657401,2
    		C,F,--136879518(+) TAAAAG/TATTTC 1 -- ut311Minor allele frequency- T:0.04WA 118
    rs730287571,2
    		C,--136880829(+) GTACGT/ACTCCT 1 -- int11Minor allele frequency- A:0.50WA 2
    rs120706501,2
    		F,H,--136881343(+) AAATGG/TAATCT 1 -- int15Minor allele frequency- T:0.03NS EA WA 524
    rs1116634541,2
    		F--136881423(+) CAGAAG/TTCACA 1 -- int12Minor allele frequency- T:0.50CSA 4
    rs37381911,2
    		H--136881679(+) ATTACG/AACCTA 1 -- int14Minor allele frequency- A:0.00NS EA 414
    rs559294081,2
    		C--136881765(+) ACTGGA/GCTGAC 2 S syn10--------
    rs1128187141,2
    		F,--136882083(+) GAAAAC/ACAGTC 1 -- int13Minor allele frequency- A:0.50CSA 6

    HapMap Linkage Disequilibrium report for ALDH9A1 (165631449 - 165668100 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for ALDH9A1
         1 CNV: 6793
         2 Indels: 11004 97538
    Locus Specific Mutation Databases (LSDB): ALDH9A1

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    Disorders / Diseases
    for ALDH9A1 gene

    (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
    ALDH9A1 for disorders           About GeneDecksing

    OMIM gene information: 602733    OMIM disorders: --

    20/65 diseases for ALDH9A1 (see all 65):    About MalaCards
    toxic epidermal necrolysis    fetal alcohol spectrum disorder    alcohol abuse    alcoholism
    uterine fibroid    metabolic disorders    liver cirrhosis    esophageal squamous cell carcinoma
    squamous cell carcinoma    myeloid leukemia    eating disorder    alcohol dependence
    chronic myeloid leukemia    acute myeloid leukemia    pleurisy    essential hypertension
    hepatitis b    myocardial infarction    parkinson's disease    liver disease

    1 disease from the University of Copenhagen DISEASES database for ALDH9A1:
    Succinic semialdehyde dehydrogenase deficiency

    10/42 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: ALDH9A1 (6 documents)

    Export disorders for ALDH9A1 gene to outside databases

    Publications
    for ALDH9A1 gene

    (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 ALDH9A1 gene, integrated from 9 sources (see all 585):
    (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. (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. (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. (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. (1994)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    6. Molecular and biochemical characterization of rat gamma- trimethylaminobutyraldehyde dehydrogenase and evidence for the involvement of human aldehyde dehydrogenase 9 in carnitine biosynthesis. (PubMed id 10702312)1, 2 Vaz F.M.... Wanders R.J.A. (2000)
    7. Human aldehyde dehydrogenase. Purification and characterization of a third isozyme with low Km for gamma-aminobutyraldehyde. (PubMed id 2925663)1, 2 Kurys G.... Pietruszko R. (1989)
    8. Tissue distribution of human aldehyde dehydrogenase E3 (ALDH9): comparison of enzyme activity with E3 protein and mRNA distribution. (PubMed id 9417993)1, 9 Izaguirre G....Pietruszko R. (1997)
    9. Human aldehyde dehydrogenase catalytic activity and structural interactions with coenzyme analogs. (PubMed id 11790142)1, 9 Izaguirre G....MacKerell A. (2001)
    10. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)

    External Searches for ALDH9A1 gene

    (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)

    Genome Databases showing ALDH9A1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 223 HGNC: 412 AceView: ALDH9A1 Ensembl:ENSG00000143149 euGenes: HUgn223
    ECgene: ALDH9A1 Kegg: 223 H-InvDB: ALDH9A1

    Other Databases showing ALDH9A1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ALDH9A1 gene

    (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 ALDH9A1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for ALDH9A1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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