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

ALDH1A1 Gene

protein-coding   GIFtS: 72
GCID: GC09M075515

Aldehyde Dehydrogenase 1 Family, Member A1


(Previous symbols: PUMB1, ALDH1)
Alzheimer's & Parkinson's Diseases Congress
  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 1 Family, Member A11 2     RALDH12
ALDH11 2 3     Acetaldehyde Dehydrogenase 12
PUMB11 2 3     Aldehyde Dehydrogenase 1, Soluble2
Retinaldehyde Dehydrogenase 11 2     Aldehyde Dehydrogenase, Liver Cytosolic2
ALDC2 3     ALDH Class 12
ALDH-E12 3     Retinal Dehydrogenase 12
ALHDII2 3     RalDH13
RALDH 12 3     Aldehyde Dehydrogenase Family 1 Member A13
EC 1.2.1.363 8     Aldehyde Dehydrogenase, Cytosolic3
ALDH112     EC 1.2.18

External Ids:    HGNC: 4021   Entrez Gene: 2162   Ensembl: ENSG000001650927   OMIM: 1006405   UniProtKB: P003523   

Export aliases for ALDH1A1 gene to outside databases

Previous GC identifers: GC09M066559 GC09M067372 GC09M069085 GC09M070972 GC09M072745 GC09M074705 GC09M045338


(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 ALDH1A1 Gene:
The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next
enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde
dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct genes, and can be
distinguished by their electrophoretic mobility, kinetic properties, and subcellular localization. This gene
encodes the cytosolic isozyme. Studies in mice show that through its role in retinol metabolism, this gene may
also be involved in the regulation of the metabolic responses to high-fat diet. (provided by RefSeq, Mar 2011)

GeneCards Summary for ALDH1A1 Gene: 
ALDH1A1 (aldehyde dehydrogenase 1 family, member A1) is a protein-coding gene. Diseases associated with ALDH1A1 include androgen insensitivity syndrome, and alcoholism, and among its related super-pathways are Ifosfamide Pathway, Pharmacodynamics and Metabolic pathways. GO annotations related to this gene include androgen binding and Ras GTPase activator activity. An important paralog of this gene is ALDH1L2.

UniProtKB/Swiss-Prot: AL1A1_HUMAN, P00352
Function: Binds free retinal and cellular retinol-binding protein-bound retinal. Can convert/oxidize retinaldehyde
to retinoic acid (By similarity)

Gene Wiki entry for ALDH1A1 Gene

PharmGKB "VIP" summary for ALDH1A1


(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_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ALDH1A1 gene promoter:
         HFH-3   GR   AML1a   GR-beta   FOXD1   C/EBPalpha   FOXI1   GR-alpha   LyF-1   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALDH1A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ALDH1A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALDH1A1


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

Entrez Gene cytogenetic band: 9q21.13   Ensembl cytogenetic band:  9q21.13   HGNC cytogenetic band: 9q21.13

ALDH1A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALDH1A1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M075515:  view genomic region     (about GC identifiers)

Start:
75,515,578 bp from pter      End:
75,695,358 bp from pter
Size:
179,781 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: AL1A1_HUMAN, P00352 (See protein sequence)
Recommended Name: Retinal dehydrogenase 1  
Size: 501 amino acids; 54862 Da
Subunit: Homotetramer
Subcellular location: Cytoplasm
Secondary accessions: O00768 Q5SYR1

Explore the universe of human proteins at neXtProt for ALDH1A1: NX_P00352

Explore proteomics data for ALDH1A1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P00352

  • 4/27 DME Specific Peptides for ALDH1A1 (P00352) (see all 27)
     TLELGGK  RHEPIGV  RSVERAK  FVEESIY 

    ALDH1A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ALDH1A1 Protein Expression
    REFSEQ proteins: NP_000680.2  
    ENSEMBL proteins: 
     ENSP00000297785   ENSP00000366138   ENSP00000388026   ENSP00000401361  
    Reactome Protein details: P00352
    Human Recombinant Protein Products for ALDH1A1: 
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    ProSpec Recombinant Protein for ALDH1A1
    Cloud-Clone Corp. Proteins for ALDH1A1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS2987944
    GO:0005829cytosol TAS--

    ALDH1A1 for ontologies           About GeneDecksing



    ALDH1A1 Antibody Products: 
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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 InterPro protein domains:
     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 P00352

    ProtoNet protein and cluster: P00352

    1 Blocks protein domain: IPB002086 Aldehyde dehydrogenase

    UniProtKB/Swiss-Prot: AL1A1_HUMAN, P00352
    Similarity: Belongs to the aldehyde dehydrogenase family


    ALDH1A1 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: AL1A1_HUMAN, P00352
    Function: Binds free retinal and cellular retinol-binding protein-bound retinal. Can convert/oxidize retinaldehyde
    to retinoic acid (By similarity)
    Catalytic activity: Retinal + NAD(+) + H(2)O = retinoate + NADH

         Enzyme Numbers (IUBMB): EC 1.2.1.361 2 EC 1.2.12

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001758retinal dehydrogenase activity IEA--
    GO:0003995acyl-CoA dehydrogenase activity ----
    GO:0004029aldehyde dehydrogenase (NAD) activity EXP--
    GO:0005099Ras GTPase activator activity TAS1709013
    GO:0005497androgen binding TAS1709013
         
    ALDH1A1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ALDH1A1:
     Decreased melanin production  Decreased viability with pacli 

         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Aldh1a1):
     craniofacial  embryogenesis  endocrine/exocrine gland  liver/biliary system  mortality/aging 
     normal  respiratory system  vision/eye 

    ALDH1A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ALDH1A1: Aldh1a1tm1Gdu Aldh1a1tm1.1Ngb

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ALDH1A1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ALDH1A1 
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDH1A1


    (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 ALDH1A1 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Ifosfamide Pathway, Pharmacodynamics
    Ifosfamide Pathway, Pharmacodynamics0.72
    Ethanol oxidation0.50
    Cyclophosphamide Pathway, Pharmacodynamics0.72
    Fatty Acid Omega Oxidation0.47
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Retinol metabolism
    Retinol metabolism0.95
    4Cytochrome P450 - arranged by substrate type
    Phase 1 - Functionalization of compounds0.74
    5Biological oxidations
    Biological oxidations0.55

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for ALDH1A1
        Retinol metabolism


    1 Cell Signaling Technology (CST) Pathway for ALDH1A1
        Glucose / Energy Metabolism

    1 GeneGo (Thomson Reuters) Pathway for ALDH1A1
        Retinol metabolism

    4 BioSystems Pathways for ALDH1A1
        Vitamin A and carotenoid metabolism
    Tryptophan metabolism
    Fatty Acid Omega Oxidation
    retinoate biosynthesis I


    4        Reactome Pathways for ALDH1A1
        Ethanol oxidation
    Metabolism
    Biological oxidations
    Phase 1 - Functionalization of compounds

    2 PharmGKB Pathways for ALDH1A1
        Cyclophosphamide Pathway, Pharmacodynamics
    Ifosfamide Pathway, Pharmacodynamics

    2         Kegg Pathways  (Kegg details for ALDH1A1):
        Retinol metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: AL1A1_HUMAN, P00352
    Pathway: Cofactor metabolism; retinol metabolism


    ALDH1A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ALDH1A1

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

    5/60 Interacting proteins for ALDH1A1 (P003523 ENSP000002977854) via UniProtKB, MINT, STRING, and/or I2D (see all 60)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    NEK9Q8TD193I2D: score=1 
    YWHABP319463I2D: score=1 
    ACSS2ENSP000003538044STRING: ENSP00000353804
    ADH1AENSP000002096684STRING: ENSP00000209668
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006069ethanol oxidation TAS--
    GO:0006081cellular aldehyde metabolic process TAS1709013
    GO:0006805xenobiotic metabolic process TAS--
    GO:0008152metabolic process ----
    GO:0008218bioluminescence ----

    ALDH1A1 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

    ALDH1A1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for ALDH1A1 (AL1A1)

    8 HMDB Compounds for ALDH1A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    9-cis-Retinal9-cis-Retinal (see all 5)514-85-2--
    9-cis-Retinoic acidTretinoin [usan:ban:inn] (see all 69)----
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    Retinal3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-Nonatetraenal (see all 19)116-31-4--
    Retinoic acidRetinoate (see all 21)302-79-4--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    5 DrugBank Compounds for ALDH1A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    TretinoinAll Trans Retinoic Acid (see all 5)302-79-4target--16166285 15245423 16837774 16207763 15366004
    Vitamin A[11,12-3H]-Retinol (see all 18)68-26-8target--16763553 16538685 16829625 17329364 17486539
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423 16583981 11872149
    1,4-Dithiothreitol-- --target--10592235
    Nicotinamide-Adenine-Dinucleotide-- 53-84-9target--10592235

    10/27 Novoseek inferred chemical compound relationships for ALDH1A1 gene (see all 27)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aldophosphamide 86.5 7 1610409 (3), 9714700 (2), 9322086 (1), 8654195 (1)
    4-hydroxycyclophosphamide 82.1 12 9884322 (4), 18496131 (3)
    retinaldehyde 81.6 16 17175089 (3), 1610409 (2), 10559215 (2), 11014218 (1) (see all 8)
    4-hydroperoxycyclophosphamide 78.5 7 16614850 (2), 9551609 (1), 10773007 (1), 9714700 (1) (see all 5)
    carboxyphosphamide 76.1 1 8654195 (1)
    acetaldehyde 75.6 17 18304535 (3), 8160299 (2), 17222227 (2), 1872904 (1) (see all 8)
    retinoic acid 71.4 60 10191271 (5), 18992716 (3), 1292933 (3), 10570467 (2) (see all 29)
    propionaldehyde 64 1 9701494 (1)
    nad+ 60.7 2 15924421 (1), 16878979 (1)
    retinoid 60.6 6 10570467 (2), 17553814 (2), 8941476 (1), 16837774 (1)

    Search CenterWatch for drugs/clinical trials and news about ALDH1A1 / AL1A1

    (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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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ALDH1A1 gene: 
    NM_000689.4  

    Unigene Cluster for ALDH1A1:

    Aldehyde dehydrogenase 1 family, member A1
    Hs.76392  [show with all ESTs]
    Unigene Representative Sequence: NM_000689
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000297785(uc011lsg.2 uc004ajd.3 uc011lsh.2) ENST00000376939
    ENST00000482210 ENST00000419959 ENST00000446946 ENST00000493113 ENST00000493311


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    Additional mRNA sequence: 

    AB209821.1 AF003341.1 AK000118.1 AK026641.1 AK293176.1 AK302168.1 AY390731.1 BC001505.2 
    BT006921.1 K03000.1 M26761.1 

    24/32 DOTS entries (see all 32):

    DT.100885833  DT.95145322  DT.97855829  DT.91787600  DT.97855826  DT.121156154  DT.121156107  DT.100675525 
    DT.100039288  DT.100885835  DT.121156167  DT.100885830  DT.100885831  DT.121156121  DT.97855830  DT.100039289 
    DT.100885834  DT.121156085  DT.121156090  DT.121156092  DT.121156093  DT.121156102  DT.121156162  DT.121156165 

    24/893 AceView cDNA sequences (see all 893):

    BM551218 CB161061 BM543403 R09108 CD244688 F03551 BM758430 BM460773 
    BM748096 CB132827 BE882767 CB134320 N63759 BQ890416 AV661002 BM716589 
    BE645420 AL542619 BM758127 BM855629 AW195472 BM469005 BM738562 AA523869 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ALDH1A1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b
    SP1:                                                                                                      
    SP2:                                                                                                      
    SP3:                                                                                                      
    SP4:                                                                                      -               


    ECgene alternative splicing isoforms for ALDH1A1

    (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

    ALDH1A1 expression in normal human tissues (normalized intensities)      ALDH1A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ALDH1A1 Expression
    About this image


    ALDH1A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/29 selected tissues (see all 29) fully expand
     
     Endothelium (Cardiovascular System)    fully expand to see all 17 entries
             PureStem endothelial progenitor 30-SM2-1
             Human Ovarian Microvascular Endothelial Cells (HOMEC)   
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Embryonic Dopaminergic Neurons Ventral Tegmental Area
             Midbrain tegmentum
             brain/midbrain   
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 8 entries
             Umbilical cord blood-derived hematopoietic stem cells
             Human umbilical Smooth Muscle (HUSM)   
     
     Eye (Sensory Organs)    fully expand to see all 7 entries
             nGnG Amacrine Cells Inner Nuclear Layer
             Retinal Pigmented Epithelium
             Limbal stem cells
             Human Iris Pigment Epithelial Cells (HIPEpiC)   
     
     Blood (Hematopoietic System)    fully expand to see all 6 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             PureStem endothelial Progenitor 30-SM2-3
             Bone Marrow CD105+ Cells   

    See ALDH1A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALDH1A1

    SOURCE GeneReport for Unigene cluster: Hs.76392
        SABiosciences Expression via Pathway-Focused PCR Arrays including ALDH1A1 (see all 6): 
              Parkinson's Disease in human mouse rat
              Nephrotoxicity in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat
              Stem Cells in human mouse rat
              Molecular Toxicology PathwayFinder 384HT 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 ALDH1A1 gene from 9/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aldh1a11 , 5 aldehyde dehydrogenase family 1, subfamily A11, 5 84.56(n)1
    87.03(a)1
      19 (13.91 cM)5
    116681  NM_013467.31  NP_038495.21 
     206019615 
    chicken
    (Gallus gallus)
    Aves ALDH1A11 aldehyde dehydrogenase 1 family, member A1 79.39(n)
    84.24(a)
      395264  NM_204577.4  NP_989908.1 
    lizard
    (Anolis carolinensis)
    Reptilia ALDH1A16
    Uncharacterized protein
    82(a)
    1 ↔ 1
    2(47887210-47977605)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3977292 aldehyde dehydrogenase class 1 77.94(n)    AB016718.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG37523
    CG310751
    aldehyde dehydrogenase (NAD+)3
    CG310751
    65(a)3
    58.79(n)1
    58.79(a)1
      30B33
    432441  NM_170304.11  NP_733183.11 
    worm
    (Caenorhabditis elegans)
    Secernentea alh-16
    alh-26
    Protein ALH-2
    62(a)
    59(a)
    many ↔ many
    many ↔ many
    III(5077763-5080674)
    V(1644169-1647728)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ALD2(YMR170C)4
    ALD51
    Cytoplasmic aldehyde dehydrogenase, involved in ethanol more4
    Ald5p1
    53.36(n)1
    49.16(a)1
      13(603082-601562)4
    8568041  NP_010996.21  8552064 
     NP_013893.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ALDH2C41 aldehyde dehydrogenase 2C4 57.55(n)
    51.98(a)
      822042  NM_113359.3  NP_566749.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g05910001 hypothetical protein 56.04(n)
    53.75(a)
      4326375  NM_001049988.1  NP_001043453.1 


    ENSEMBL Gene Tree for ALDH1A1 (if available)
    TreeFam Gene Tree for ALDH1A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ALDH1A1 gene
    ALDH1L22  ENSG000002577672  ALDH1A22  ALDH1B12  ALDH7A12  ALDH6A12  ALDH22  ALDH8A12  
    ALDH9A12  ALDH1L12  ALDH1A32  
    13 SIMAP similar genes for ALDH1A1 using alignment to 4 protein entries:     AL1A1_HUMAN (see all proteins):
    RALDH2    ALDH1A2    ALDH2    ALDH1B1    ALDH1A3    ALDH1L1
    ALDH1L2    DKFZp686G1675    ALDH8A1    ALDH9A1    ALDH5A1    ALDH6A1
    ALDH7A1

    ALDH1A1 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) 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

    10/1173 SNPs in ALDH1A1 are shown (see all 1173)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1998381261,2
    C--45341092(+) GAAGT-/AAAAAA 1 -- int10--------
    rs284501461,2
    C--45356096(+) TTTTGG/TAAAGT 1 -- int10--------
    rs1386412491,2
    C--45358960(+) TAATT-/CTTTTT 1 -- int10--------
    rs759959551,2
    C--45362816(+) TGTATC/TCCCCC 1 -- int10--------
    rs81879161,2
    C,F--45367776(-) AAAAA-/ATAAAA 1 -- int11Minor allele frequency- A:0.01NS 168
    rs600116461,2
    C--45371066(+) AAAAA-/A/AAA 
            
    GAAAA
    2 -- int1 cds11NA 2
    rs1388093561,2
    C--45375806(+) ACTTA-/GAAACA 1 -- int10--------
    rs560211671,2
    C--45387118(+) GTGTGC/TGCGTG 1 -- int12Minor allele frequency- T:0.00NA 4
    rs1141247911,2
    F--75399360(+) GCAAAT/CTTGCC 1 -- ds50011Minor allele frequency- C:0.03WA 118
    rs3484831,2
    C,F,H--75399377(+) TAAGGT/CTTATA 1 -- ds500124Minor allele frequency- C:0.07NS EA NA WA 2342

    HapMap Linkage Disequilibrium report for ALDH1A1 (75515578 - 75695358 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ALDH1A1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv991190CNV Insertion20482838
    esv272222CNV Insertion20981092
    esv267946CNV Insertion20981092
    nsv893451CNV Gain21882294
    nsv893450CNV Gain21882294
    nsv893452CNV Gain21882294


    Human Gene Mutation Database (HGMD): ALDH1A1

    Locus Specific Mutation Databases (LSDB): ALDH1A1
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for ALDH1A1

    (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: 100640    OMIM disorders: --

    20/40 diseases for ALDH1A1 (see all 40):    About MalaCards
    androgen insensitivity syndrome    alcoholism    uterine fibroid    breast adenocarcinoma
    pilocytic astrocytoma    leiomyoma    squamous cell carcinoma of the head and neck    metabolic disorders
    alcohol dependence    retinitis    parkinson's disease    non-small cell lung carcinoma
    astrocytoma    breast cancer    thyroid cancer    atopic dermatitis
    dermatitis    retinoblastoma    colon cancer    thyroiditis


    ALDH1A1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/12 Novoseek inferred disease relationships for ALDH1A1 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alcoholism 51.4 5 8160299 (1), 14506398 (1), 17286337 (1), 15967764 (1)
    androgen insensitivity syndrome 46.3 2 9166904 (1), 8493922 (1)
    cancer 31.9 32 20422001 (8), 19450560 (4), 18573038 (2), 12174908 (1) (see all 12)
    tumors 29.1 40 11320670 (5), 17974998 (4), 19875048 (3), 19385968 (2) (see all 20)
    breast cancer 28.9 20 19329942 (3), 19509181 (2), 20010944 (2), 11320670 (1) (see all 9)
    breast cancer metastatic 27 10 11320670 (3), 9815579 (2), 19589136 (1), 19619935 (1)
    parkinson disease 19.4 2 14678778 (2)
    leiomyoma 9.95 1 17276435 (1)
    metabolic disorder 8.74 1 9490025 (1)
    cancer lung 5.74 7 19276181 (2), 17111384 (1)

    Genetic Association Database (GAD): ALDH1A1
    Human Genome Epidemiology (HuGE) Navigator: ALDH1A1 (18 documents)

    Export disorders for ALDH1A1 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 ALDH1A1 gene, integrated from 9 sources (see all 283):
    (articles sorted by number of sources associating them with ALDH1A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of ALDH1 promoter polymorphisms with alcohol-related phenotypes in Trinidad and Tobago. (PubMed id 17286337)1, 4, 9 Moore S....Ehlers C.L. (2007)
    2. Evaluation of aldehyde dehydrogenase 1 promoter polymorphisms identified in human populations. (PubMed id 14506398)1, 4, 9 Spence J.P....Carr L.G. (2003)
    3. Association of ALDH1 promoter polymorphisms with alcohol-related phenotypes in southwest California Indians. (PubMed id 15597079)1, 4, 9 Ehlers C.L....Carr L.G. (2004)
    4. 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)
    5. Association of ADH and ALDH genes with alcohol dependence in the Irish Affected Sib Pair Study of alcohol dependence (IASPSAD) sample. (PubMed id 18331377)1, 4, 9 Kuo P.H....Riley B.P. (2008)
    6. The role of aldehyde dehydrogenase-1 (ALDH1A1) polymorphisms in harmful alcohol consumption in a Finnish population. (PubMed id 19129088)1, 4, 9 Lind P.A....Wilhelmsen K.C. (2008)
    7. 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)
    8. 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)
    9. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)
    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
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      (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: 216 HGNC: 402 AceView: ALDH1A1 Ensembl:ENSG00000165092 euGenes: HUgn216
    ECgene: ALDH1A1 Kegg: 216 H-InvDB: ALDH1A1

    (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 ALDH1A1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ALDH1A1 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/aldh1a1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ALDH1A1 gene:
    Search GeneIP for patents involving ALDH1A1

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



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    About This Section

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