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ALDH1A1 Gene

protein-coding   GIFtS: 71
GCID: GC09M075515

Aldehyde Dehydrogenase 1 Family, Member A1


(Previous symbols: PUMB1, ALDH1)
  See ALDH1A1-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 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     Epididymis Luminal Protein 122
ALHDII2 3     Epididymis Luminal Protein 92
RALDH 12 3     Epididymis Secretory Sperm Binding Protein Li 53e2
EC 1.2.1.363 8     Retinal Dehydrogenase 12
ALDH112     RalDH13
HEL-92     Aldehyde Dehydrogenase Family 1 Member A13
HEL-S-53e2     Aldehyde Dehydrogenase, Cytosolic3
HEL122     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 erythroplakia, and gallbladder adenocarcinoma. 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 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_008470.20  
Regulatory elements:
   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 Chromatin IP Primers for ALDH1A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: AL1A1_HUMAN, P00352 (See protein sequence)
Recommended Name: Retinal dehydrogenase 1  
Size: 501 amino acids; 54862 Da
Subunit: Homotetramer
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ALDH1A1 (P00352) (see all 27)
     TLELGGK  RHEPIGV  RSVERAK  FVEESIY 


    See ALDH1A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000680.2  
    ENSEMBL proteins: 
     ENSP00000297785   ENSP00000366138   ENSP00000388026   ENSP00000401361  
    Reactome Protein details: P00352

    ALDH1A1 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 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


    Find genes that share domains with ALDH1A1           About GenesLikeMe


    (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, 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: 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): Selected molecular function terms (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
         
    Find genes that share ontologies with ALDH1A1           About GenesLikeMe


    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 

    Find genes that share phenotypes with ALDH1A1           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALDH1A1
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    Inhib. RNA
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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
    AL1A1_HUMAN, P00352: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2
    cytoskeleton1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS2987944
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with ALDH1A1           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 ALDH1A1 About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Cytochrome P450 - arranged by substrate type
    Phase 1 - Functionalization of compounds0.75
    Fatty Acid Omega Oxidation0.00
    Ethanol oxidation0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Cyclophosphamide Pathway, Pharmacodynamics
    Cyclophosphamide Pathway, Pharmacodynamics
    Ifosfamide Pathway, Pharmacodynamics0.00
    4Biological oxidations
    Biological oxidations0.56
    5Tryptophan metabolism
    Tryptophan metabolism0.46


    Find genes that share SuperPaths with ALDH1A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    1 GeneGo (Thomson Reuters) Pathway for ALDH1A1
        Retinol metabolism

    5 BioSystems Pathways for ALDH1A1
        Vitamin A and carotenoid metabolism
    Tryptophan metabolism
    Fatty Acid Omega Oxidation
    Folate-Alcohol and Cancer Pathway
    retinoate biosynthesis I


    1 Reactome Pathway for ALDH1A1
        Ethanol oxidation

    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

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for ALDH1A1

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

    Selected Interacting proteins for ALDH1A1 (P003523 ENSP000002977854) via UniProtKB, MINT, STRING, and/or I2D (see all 75)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    NEK9Q8TD193I2D: score=1 
    YWHABP319463I2D: score=1 
    ADH1AENSP000002096684STRING: ENSP00000209668
    ADH1BENSP000003066064STRING: ENSP00000306606
    About this table

    Gene Ontology (GO): Selected biological process terms (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 ----

    Find genes that share ontologies with ALDH1A1           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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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

    Selected 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)

    3 PharmGKB related drug/compound annotations for ALDH1A1 gene    About this table
    Drug/compound PharmGKB Annotation
    carboplatinCA  
    cyclophosphamideCA  
    thiotepaCA  



    Find genes that share compounds with ALDH1A1           About GenesLikeMe



    (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 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 

    Selected 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 

    Selected AceView cDNA sequences (see all 893):

    BU673958 BE869815 CB142192 BQ893994 BP342991 CB321668 BM313000 BM759900 
    CB106691 AA314196 AW195472 CB106574 CB139869 BM705564 CB215823 F03664 
    BQ890416 AV652728 BQ961488 BM981789 BU685228 CB161061 CD245329 BM551218 

    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™, 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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    ALDH1A1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 28) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Dopaminergic Progenitor Cells Substantia Nigra pars Compacta
             Midbrain tegmentum
             Midbrain dopaminergic-like neurons
     
     Neurons
             Dopaminergic Progenitor Cells Substantia Nigra pars Compacta
             Midbrain dopaminergic-like neurons
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Meso-diencephalic Dopaminergic Precursor Cells Mesencephalic Ventricular Zone
     
     Eye (Sensory Organs)    fully expand to see all 6 entries
             nGnG Amacrine Cells Inner Nuclear Layer
             Retinal Pigmented Epithelium
             Limbal epithelial stem cells (family)
     
     Dopaminergic Neurons (Nervous System)
             Midbrain dopaminergic-like neurons
    ALDH1A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALDH1A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.76392
        Pathway & Disease-focused RT2 Profiler 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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ALDH1A1 gene from Selected species (see all 19)    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
    aldehyde dehydrogenase 1 family, member A1
    82(a)
    1 ↔ 1
    2(47887210-47977605)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3977292 aldehyde dehydrogenase class 1 77.94(n)    AB016718.1 
    zebrafish
    (Danio rerio)
    Actinopterygii aldh2.26
    aldehyde dehydrogenase 2, tandem duplicate 2
    62(a)
    many ↔ many
    5(72463282-72486869) ENSDARG00000028087
    fruit fly
    (Drosophila melanogaster)
    Insecta CG37523 aldehyde dehydrogenase (NAD+) 65(a)   30B3   --
    A. gossypii yeast
    (Ashbya gossypii)
    Saccharomycetes AGOS_ADR417W1 AGOS_ADR417W 54.07(n)
    50.74(a)
      4620677  NM_209865.2  NP_984512.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ALDH2C41 ALDH2C4 57.55(n)
    51.98(a)
      822042  NM_113359.3  NP_566749.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g05910001 Os01g0591000 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)
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    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

    Find genes that share paralogs with ALDH1A1           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 ALDH1A1 (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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ALDH1A1
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 100640    OMIM disorders: --

    2 diseases for ALDH1A1:    
    About MalaCards
    erythroplakia    gallbladder adenocarcinoma


    Find genes that share disorders with ALDH1A1           About GenesLikeMe

    Selected 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)
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    PubMed articles for ALDH1A1 gene, integrated from 10 sources (see all 296):
    (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. (J Stud Alcohol Drugs 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. (Alcohol. Clin. Exp. Res. 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. (Alcohol. Clin. Exp. Res. 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. (Pharmacogenet. Genomics 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. (Alcohol. Clin. Exp. Res. 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. (Hum. Genomics 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. (Pharmacogenet. Genomics 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. (Mol. Med. 2010)
    9. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 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. (J. Hum. Genet. 2009)

    (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: 216 HGNC: 402 AceView: ALDH1A1 Ensembl:ENSG00000165092 euGenes: HUgn216
    ECgene: ALDH1A1 Kegg: 216 H-InvDB: ALDH1A1

    (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 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.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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