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ALDH1B1 Gene

protein-coding   GIFtS: 70
GCID: GC09P038392

Aldehyde Dehydrogenase 1 Family, Member B1


(Previous symbol: ALDH5)
  See ALDH1B1-related disease
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 1 Family, Member B11 2     Acetaldehyde Dehydrogenase 52
ALDH51 2 3 5     Aldehyde Dehydrogenase X, Mitochondrial2
Aldehyde Dehydrogenase 52 3     ALDH Class 22
ALDHX2 3     Aldehyde Dehydrogenase Family 1 Member B13
EC 1.2.1.33 8     EC 1.2.18

External Ids:    HGNC: 4071   Entrez Gene: 2192   Ensembl: ENSG000001371247   OMIM: 1006705   UniProtKB: P308373   

Export aliases for ALDH1B1 gene to outside databases

Previous GC identifers: GC09P038704 GC09P038562 GC09P038382 GC09P038345


(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 ALDH1B1 Gene:
This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second
enzyme of the major oxidative pathway of alcohol metabolism. This gene does not contain introns in the coding
sequence. The variation of this locus may affect the development of alcohol-related problems. (provided by
RefSeq, Jul 2008)

GeneCards Summary for ALDH1B1 Gene:
ALDH1B1 (aldehyde dehydrogenase 1 family, member B1) is a protein-coding gene. Diseases associated with ALDH1B1 include succinic semialdehyde dehydrogenase deficiency. GO annotations related to this gene include aldehyde dehydrogenase (NAD) activity. An important paralog of this gene is ALDH1L2.

UniProtKB/Swiss-Prot: AL1B1_HUMAN, P30837
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

Gene Wiki entry for ALDH1B1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NC_018920.2  NT_008413.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALDH1B1 gene promoter:
         USF1   USF2   USF-1:USF-2   NF-AT   NF-AT4   E2F-1   NF-AT2   USF-1   NF-AT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALDH1B1 promoter sequence
   Search Chromatin IP Primers for ALDH1B1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALDH1B1


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

Entrez Gene cytogenetic band: 9p11.1   Ensembl cytogenetic band:  9p13.2   HGNC cytogenetic band: 9p13

ALDH1B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALDH1B1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P038392:  view genomic region     (about GC identifiers)

Start:
38,392,661 bp from pter      End:
38,398,658 bp from pter
Size:
5,998 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: AL1B1_HUMAN, P30837 (See protein sequence)
Recommended Name: Aldehyde dehydrogenase X, mitochondrial precursor  
Size: 517 amino acids; 57206 Da
Subunit: Homotetramer (By similarity)
Secondary accessions: B2R8F0 Q8WX76 Q9BV45

Explore the universe of human proteins at neXtProt for ALDH1B1: NX_P30837

Explore proteomics data for ALDH1B1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys426
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ALDH1B1 (P30837) (see all 30)
     TLELGGK  AGSRTFV  FVEESIY  VTLELGG 


    See ALDH1B1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000683.3  
    ENSEMBL proteins: 
     ENSP00000366927  

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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 P30837

    ProtoNet protein and cluster: P30837

    1 Blocks protein domain: IPB002086 Aldehyde dehydrogenase

    UniProtKB/Swiss-Prot: AL1B1_HUMAN, P30837
    Similarity: Belongs to the aldehyde dehydrogenase family


    Find genes that share domains with ALDH1B1           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: AL1B1_HUMAN, P30837
    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
    Catalytic activity: An aldehyde + NAD(+) + H(2)O = a carboxylate + NADH

         Enzyme Numbers (IUBMB): EC 1.2.1.31 2 EC 1.2.12

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004029aldehyde dehydrogenase (NAD) activity IEA--
    GO:0016491oxidoreductase activity ----
         
    Find genes that share ontologies with ALDH1B1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ALDH1B1:
     Upregulation of Wnt/beta-caten 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ALDH1B1

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    miRTarBase miRNAs that target ALDH1B1:
    hsa-mir-1226-3p (MIRT036506), hsa-mir-186-5p (MIRT045046), hsa-mir-615-3p (MIRT040428), hsa-mir-99b-5p (MIRT044175), hsa-mir-328-3p (MIRT043826), hsa-mir-130b-5p (MIRT038303)

    Block miRNA regulation of human, mouse, rat ALDH1B1 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate ALDH1B1:
    hsa-miR-221* hsa-miR-548p hsa-miR-876-3p
    SwitchGear 3'UTR luciferase reporter plasmidALDH1B1 3' UTR sequence
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    (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
    AL1B1_HUMAN, P30837: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus4
    cytosol2
    peroxisome2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005739mitochondrion IDA--
    GO:0005759mitochondrial matrix IEA--
    GO:0043231intracellular membrane-bounded organelle IDA--

    Find genes that share ontologies with ALDH1B1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ALDH1B1 About   (see all 13)  
    See pathways by source

    SuperPathContained pathways About
    1Glucuronidation
    Ascorbate and aldarate metabolism0.61
    Pentose and glucuronate interconversions0.61
    2Valine, leucine and isoleucine degradation
    Valine, leucine and isoleucine degradation0.31
    Propanoate metabolism0.31
    3Tryptophan metabolism
    Tryptophan metabolism0.46
    4Glycolysis and gluconeogenesis short map
    Glycolysis / Gluconeogenesis0.46
    5Fatty acid metabolism
    Fatty acid degradation0.42


    Find genes that share SuperPaths with ALDH1B1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for ALDH1B1
        Tyrosine metabolism p.1 (dopamine)



    Selected Kegg Pathways  (Kegg details for ALDH1B1) (see all 14):
        Glycolysis / Gluconeogenesis
    Pentose and glucuronate interconversions
    Ascorbate and aldarate metabolism
    Fatty acid degradation
    Valine, leucine and isoleucine degradation

    UniProtKB/Swiss-Prot: AL1B1_HUMAN, P30837
    Pathway: Alcohol metabolism; ethanol degradation; acetate from ethanol: step 2/2

        Pathway & Disease-focused RT2 Profiler PCR Array including ALDH1B1: 

              Drug Metabolism: Phase I Enzymes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ALDH1B1

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

    Selected Interacting proteins for ALDH1B1 (P308372, 3 ENSP000003669274) via UniProtKB, MINT, STRING, and/or I2D (see all 340)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=3 STRING: ENSP00000367207
    ENSG00000258947Q135093I2D: score=1 
    TUBB3Q135093I2D: score=1 
    CADP277083, ENSP000002647054I2D: score=1 STRING: ENSP00000264705
    ICT1Q141972, ENSP000003015854MINT-8079030 STRING: ENSP00000301585
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process NAS1306115
    GO:0006068ethanol catabolic process IEA--
    GO:0008152metabolic process ----
    GO:0055114oxidation-reduction process ----

    Find genes that share ontologies with ALDH1B1           About GenesLikeMe



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

    Browse Tocris compounds for ALDH1B1 (AL1B1)

    Selected HMDB Compounds for ALDH1B1 (see all 41)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (S)-Methylmalonic acid semialdehyde(S)-Methylmalonate semialdehyde (see all 3)99043-16-0--
    1-Butanol1-Butanol (see all 10)71-36-3--
    1-Hexanol1-Hexyl alcohol (see all 30)111-27-3--
    1-Pentanol1-Pentol (see all 34)71-41-0--
    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--

    1 DrugBank Compound for ALDH1B1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ALDH1B1 gene: 
    NM_000692.4  

    Unigene Cluster for ALDH1B1:

    Aldehyde dehydrogenase 1 family, member B1
    Hs.436219  [show with all ESTs]
    Unigene Representative Sequence: NM_000692
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000377698(uc004aay.3)
    miRNA
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    Additional mRNA sequence: 

    AK225950.1 AK297020.1 AK313344.1 BC001619.1 

    4 DOTS entries:

    DT.443359  DT.121167274  DT.97848183  DT.75103462 

    Selected AceView cDNA sequences (see all 149):

    NM_000692 AI520967 AL135209 BU074303 BM917091 BU194396 BI850371 AI476617 
    AA305312 CA429736 BF347342 BM749166 BM458404 BM547728 AA918488 BE889631 
    BF509429 BM464400 BT007418 BU628525 BX419182 BU149773 BG616112 BG178113 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for ALDH1B1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b
    SP1:                              
    SP2:              -               


    ECgene alternative splicing isoforms for ALDH1B1

    (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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    ALDH1B1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATTAACTCC
    ALDH1B1 Expression
    About this image


    ALDH1B1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Periportal Hepatocytes Liver Lobule
     
     Heart (Cardiovascular System)
             Atrioventricular Node
     
     Ovary (Reproductive System)
             Pre-Granulosa Cells Primordial Follicle
     
     Thyroid (Endocrine System)
     
     Kidney (Urinary System)
    ALDH1B1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALDH1B1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.436219

    UniProtKB/Swiss-Prot: AL1B1_HUMAN, P30837
    Tissue specificity: Liver, testis and to a lesser extent in brain

        Pathway & Disease-focused RT2 Profiler PCR Array including ALDH1B1: 
              Drug Metabolism: Phase I Enzymes in human mouse rat

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    In Situ
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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 eukaryotes.

    Orthologs for ALDH1B1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aldh1b11 , 5 aldehyde dehydrogenase 1 family, member B11, 5 87.12(n)1
    94.37(a)1
      4 (24.35 cM)5
    725351  NM_028270.41  NP_082546.11 
     457990225 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia aldh1b11 aldehyde dehydrogenase 1 family, member B1 69.93(n)
    79.2(a)
      100498540  XM_004910893.1  XP_004910950.1 
    zebrafish
    (Danio rerio)
    Actinopterygii aldh2.16
    aldehyde dehydrogenase 2, tandem duplicate 1
    70(a)
    many ↔ many
    5(72440789-72461616) ENSDARG00000089924
    fruit fly
    (Drosophila melanogaster)
    Insecta CG37523 aldehyde dehydrogenase (NAD+) 66(a)   30B3   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ALD4(YOR374W)4
    ALD41
    Mitochondrial aldehyde dehydrogenase, required for more4
    ALD41
    55.78(n)1
    51.32(a)1
      15(1039840-1041399)4
    8545561, 4  NP_015019.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ALDH2B71 ALDH2B7 57.85(n)
    57.06(a)
      838991  NM_102228.3  NP_564204.1 
    rice
    (Oryza sativa)
    Liliopsida Os.24472 Oryza sativa (japonica cultivar-group) mRNA for aldehyde more 72.98(n)    AB044537.1 


    ENSEMBL Gene Tree for ALDH1B1 (if available)
    TreeFam Gene Tree for ALDH1B1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ALDH1B1 gene
    ALDH1L22  ALDH1A12  ENSG000002577672  ALDH1A22  ALDH7A12  ALDH6A12  ALDH22  ALDH8A12  
    ALDH9A12  ALDH1A32  ALDH1L12  
    12 SIMAP similar genes for ALDH1B1 using alignment to 1 protein entry:     AL1B1_HUMAN:
    ALDH1A2    ALDH2    ALDH1A1    ALDH1A3    ALDH1L1    ALDH1L2
    ALDH9A1    ALDH8A1    DKFZp686G1675    ALDH5A1    ALDH6A1    ALDH7A1

    Find genes that share paralogs with ALDH1B1           About GenesLikeMe



    (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 ALDH1B1 (see all 230)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs123432711,2
    C,F,H--38358362(+) GTTTCC/TAATGC 1 -- us2k15Minor allele frequency- T:0.01NS EA CSA 414
    rs107389971,2
    C,F,A,H--38358377(+) TAACAT/CGAGGA 1 -- us2k123Minor allele frequency- C:0.34NS EA NA WA CSA 2226
    rs588235741,2
    F--38358527(+) GGAGGC/TAGGAG 1 -- us2k11Minor allele frequency- T:0.06WA 118
    rs1428951911,2
    --38358556(+) ATGCCA/GTTGCT 1 -- us2k10--------
    rs1853035221,2
    --38358609(+) CCAATC/TATAGT 1 -- us2k10--------
    rs48788021,2
    C,F,A,H--38358658(+) AACATC/GCTAAG 1 -- us2k118Minor allele frequency- G:0.32NS EA NA WA CSA 795
    rs1507877681,2
    C--38358818(+) GTGCCA/GGAGGC 1 -- us2k10--------
    rs1391566461,2
    --38358961(+) AGGAGC/GGGCTA 1 -- us2k10--------
    rs1499243711,2
    C--38358962(+) GGAGCA/GGCTAC 1 -- us2k10--------
    rs1122202201,2
    C--38358977(+) ACAGCG/AGCCGG 1 -- us2k12Minor allele frequency- A:0.17CSA WA 120

    HapMap Linkage Disequilibrium report for ALDH1B1 (38392661 - 38398658 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ALDH1B1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv527063CNV Loss19592680
    esv34172CNV Loss18971310
    nsv893066CNV Gain21882294
    nsv8445CNV Gain+Loss18304495

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 100670    OMIM disorders: --

    1 disease for ALDH1B1:    
    About MalaCards
    succinic semialdehyde dehydrogenase deficiency

    1 disease from the University of Copenhagen DISEASES database for ALDH1B1:
    Succinic semialdehyde dehydrogenase deficiency

    Find genes that share disorders with ALDH1B1           About GenesLikeMe

    Genetic Association Database (GAD): ALDH1B1
    Human Genome Epidemiology (HuGE) Navigator: ALDH1B1 (7 documents)

    Export disorders for ALDH1B1 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 ALDH1B1 gene, integrated from 10 sources (see all 44):
    (articles sorted by number of sources associating them with ALDH1B1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a new functional human aldehyde dehydrogenase gene. (PubMed id 2061311)1, 2, 3, 9 Hsu L.C. and Chang W.-C. (J. Biol. Chem. 1991)
    2. Diverse polymorphism within a short coding region of the human aldehyde dehydrogenase-5 (ALDH5) gene. (PubMed id 8244338)1, 2, 9 Sherman D.... Yoshida A. (Hum. Genet. 1993)
    3. Genetic determinants of both ethanol and acetaldehyde metabolism influence alcohol hypersensitivity and drinking behaviour among Scandinavians. (PubMed id 20205700)1, 4 Linneberg A....Husemoen L.L. (Clin. Exp. Allergy 2010)
    4. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (Hum. Genet. 2010)
    5. 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)
    6. The association of alcohol and alcohol metabolizing gene variants with diabetes and coronary heart disease risk factors in a white population. (PubMed id 20700531)1, 4 Husemoen L.L....Linneberg A. (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. Contribution of the alcohol dehydrogenase-1B genotype and oral microorganisms to high salivary acetaldehyde concentrations in Japanese alcoholic men. (PubMed id 17471563)1, 4 Yokoyama A....Yokoyama T. (Int. J. Cancer 2007)
    9. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 219 HGNC: 407 AceView: ALDH1B1 Ensembl:ENSG00000137124 euGenes: HUgn219
    ECgene: ALDH1B1 Kegg: 219 H-InvDB: ALDH1B1

    (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)
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    NameDescription
    PharmGKB entry for ALDH1B1 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 ALDH1B1 gene:
    Search GeneIP for patents involving ALDH1B1

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



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