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

ALDH1A1 Gene

protein-coding   GIFtS: 71
GCID: GC09M075515

aldehyde dehydrogenase 1 family, member A1


(Previous symbols: PUMB1, ALDH1)
 Explore 46 diseases affiliated with
ALDH1A1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ALDH1A1    

Aliases
for ALDH1A1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Aldehyde Dehydrogenase 1 Family, Member A11 2     Acetaldehyde Dehydrogenase 12
ALDH11 2 3     Aldehyde Dehydrogenase 1, Soluble2
PUMB11 2 3     Aldehyde Dehydrogenase, Liver Cytosolic2
RALDH11 2     ALDH Class 12
ALDC2 3     Retinal Dehydrogenase 12
ALDH-E12 3     Retinaldehyde 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


Summaries
for ALDH1A1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ALDH1A1:
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)

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

PharmGKB "VIP" summary for ALDH1A1


Genomic Views
for ALDH1A1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008470.19  
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 plasmid: ALDH1A1 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

Proteins
for ALDH1A1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000680.2  
    ENSEMBL proteins: 
     ENSP00000297785   ENSP00000366138   ENSP00000388026   ENSP00000401361  
    Reactome Protein details: P00352
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for ALDH1A1 (Aldehyde Dehydrogenase 1-A1/ALDH1A1)
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    OriGene Purified Protein: ALDH1A1
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    Novus Biologicals ALDH1A1 Proteins
    Novus Biologicals ALDH1A1 Lysates
    Sino Biological Recombinant Protein for ALDH1A1
    ProSpec Recombinant Protein for ALDH1A1
    Uscn 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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    Uscn ELISAs and CLIAs for ALDH1A1

    Protein Domains /
    Families
    for ALDH1A1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ALDH1A1 for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry P00352

    ProtoNet protein and cluster: P00352

    1 Blocks protein family: IPB002086 Aldehyde dehydrogenase

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


    Function
    for ALDH1A1 gene

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

         UniProtKB/Swiss-Prot: 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ALDH1A1
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    SwitchGear 3'UTR luciferase reporter plasmid: ALDH1A1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for ALDH1A1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDH1A1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001758retinal dehydrogenase activity IEA--
    GO:0004029aldehyde dehydrogenase (NAD) activity EXP--
    GO:0005099Ras GTPase activator activity TAS1709013
    GO:0005497androgen binding TAS1709013
    GO:0016491oxidoreductase activity ----


    ALDH1A1 for ontologies           About GeneDecksing


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

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


    Pathways & Interactions
    for ALDH1A1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Ethanol oxidation
    		Ethanol oxidation1.00
    		Cyclophosphamide Pathway, Pharmacodynamics0.42
    		Fatty Acid Omega Oxidation0.47
    2Retinol metabolism
    		Retinol metabolism1.00
    		Retinol metabolism0.95
    3Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    4Glucose / Energy Metabolism
    		Glucose / Energy Metabolism1.00
    5Tryptophan metabolism
    		Tryptophan metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006069ethanol oxidation TAS--
    GO:0006081cellular aldehyde metabolic process TAS1709013
    GO:0006805xenobiotic metabolic process TAS--
    GO:0032320positive regulation of Ras GTPase activity TAS1709013
    GO:0042572retinol metabolic process IEA--


    ALDH1A1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ALDH1A1 gene

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

    ALDH1A1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for ALDH1A1

    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 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 

    Transcripts
    for ALDH1A1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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


    miRNA
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    Inhib. RNA
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    Clone
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    Additional cDNA 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):

    BM748096 BE882767 AV681811 AL550309 AL544572 BM758430 CB161346 AI357825 
    AI767685 BP342991 CB156886 BM803276 BM716589 AV661002 AA146679 BP341552 
    CB159817 CB138611 N63759 AI150648 BM697736 F02701 BQ574933 N63126 

    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

    Expression
    for ALDH1A1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ALDH1A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ALDH1A1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainSubstantia Nigra pars CompactaAdult Dopaminergic NeuronsDopaminergic neurons
    BrainSubstantia Nigra pars CompactaDopaminergic Progenitor CellsDopaminergic neurons
    BrainSubstantia Nigra pars CompactaEmbryonic Dopaminergic NeuronsDopaminergic neurons
    BrainVentral Tegmental AreaAdult Dopaminergic NeuronsDopaminergic neurons
    BrainVentral Tegmental AreaDopaminergic Progenitor CellsDopaminergic neurons
    BrainVentral Tegmental AreaEmbryonic Dopaminergic NeuronsDopaminergic neurons
    Neural TubeDiencephalic Ventricular ZoneMeso-diencephalic Dopaminergic Precursor CellsDopaminergic neurons
    Neural TubeMesencephalic Ventricular ZoneMeso-diencephalic Dopaminergic Precursor CellsDopaminergic neurons
    EyeInner Nuclear LayernGnG Amacrine CellsAmacrine, Retina
    AdiposeVisceral White AdiposeAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 9 LifeMap Cells 
    NameCategory
    PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial progenitor 30-SM2-1 (Embryonic Progenitor Cell)Endothelium
    PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)Endothelium
    Midbrain dopaminergic-like neurons (Derivation of functi...)
    N2/LSB induced-cells (Generation of midbra...)
    Intervertebral disc (IVD) annulus fibrosus (AF) cells (Differentiation of s...)Cartilage
    Human kidney epithelial cell spheroids (Kidney spheroids for...)
    Mature follicles (In-vitro growth and ...)

    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
    for ALDH1A1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for ALDH1A1 gene from 8/30 species (see all 30)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 83(a)
    		 1 ↔ 1
    		 2(47938589-47973621)
    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 
    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 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria aldB6
    		 aldehyde dehydrogenase B
    		 38(a)
    		 possible ortholog
    		 Chromosome(3752996-3754534)


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

    Paralogs
    for ALDH1A1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ALDH1A1 gene
    ALDH1L22  ALDH1A22  ENSG000002577672  ALDH1B12  ALDH7A12  ALDH22  ALDH16A12  ALDH8A12  
    ALDH9A12  ALDH1L12  ALDH1A32  
    13 SIMAP similar genes for ALDH1A1 using alignment to 4 protein entries:     AL1A1_HUMAN (see all proteins):
    RALDH2    ALDH1A2    ALDH1B1    ALDH1A3    ALDH2    ALDH1L1
    ALDH1L2    DKFZp686G1675    ALDH8A1    ALDH9A1    ALDH5A1    ALDH6A1
    ALDH7A1

    ALDH1A1 for paralogs           About GeneDecksing



    Genomic Variants
    for ALDH1A1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/933 NCBI SNPs in ALDH1A1 are shown (see all 933)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs170581971,2
    		C,F,H,--45337699(+) AATTTC/TCTACC 1 -- ds500122Minor allele frequency- T:0.05NA NS EA WA CSA 1880
    rs81880011,2
    		C,F,H,--45338061(-) TAAAGG/TTACAT 1 -- ds500117Minor allele frequency- T:0.03NS EA NA WA 1800
    rs81880001,2
    		C,F,H,--45338235(-) ATGTCA/GTGTCT 1 -- ut31 ese319Minor allele frequency- G:0.06NS NA EA WA 2156
    rs155001,2
    		C--45338349(-) GCTTCT/CTTCCC 1 -- ut31 trp31Minor allele frequency- C:0.00MN 184
    rs81879991,2
    		C,F,--45338375(-) TTATAG/CAAAAG 1 -- ut31 trp36Minor allele frequency- C:0.02NS NA 396
    rs772526911,2
    		C--45338450(-) TCGGAA/TGTATG 1 -- ut311Minor allele frequency- T:0.00CSA 1
    rs81879981,2
    		C,F,H,--45338628(-) CTAATA/GTAGTA 1 -- ut3112Minor allele frequency- G:0.02NS EA NA 1020
    rs81879971,2
    		C--45338815(-) AGTATA/GTTTAT 1 -- int11Minor allele frequency- G:0.01NS 112
    rs81879951,2
    		C,F,H,--45339297(-) CACTTC/TTATGA 1 -- int18Minor allele frequency- T:0.00NS EA NA 770
    rs81879941,2
    		C,--45339308(-) TATCCC/TCTTAC 1 -- int11Minor allele frequency- T:0.01NS 170

    HapMap Linkage Disequilibrium report for ALDH1A1 (75515578 - 75695358 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ALDH1A1: --
    Human Gene Mutation Database (HGMD): ALDH1A1

    Locus Specific Mutation Databases (LSDB): ALDH1A1

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for ALDH1A1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ALDH1A1 for disorders           About GeneDecksing

    OMIM gene information: 100640    OMIM disorders: --

    20/46 diseases for ALDH1A1 (see all 46):    About MalaCards
    acyl-coa dehydrogenase    alcoholism    androgen insensitivity syndrome    retinol binding protein
    non-small cell lung carcinoma    uterine fibroid    retinitis    metabolic disorders
    pilocytic astrocytoma    squamous cell carcinoma of the head and neck    squamous cell carcinoma    alcohol dependence
    atopic dermatitis    parkinson's disease    breast cancer    inflammatory breast cancer
    leiomyoma    colon cancer    dermatitis    lung carcinoma

    10/12 Novoseek 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

    Publications
    for ALDH1A1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ALDH1A1 gene, integrated from 9 sources (see all 255):
    (articles sorted by number of sources associating them with ALDH1A1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Evaluation of aldehyde dehydrogenase 1 promoter polymorphisms identified in human populations. (PubMed id 14506398)1, 4, 9 Spence J.P....Carr L.G. (2003)
    2. 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)
    3. 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. (2004)
    4. Biological role of human cytosolic aldehyde dehydrogenase 1: hormonal response, retinal oxidation and implication in testicular feminization. (PubMed id 8493914)1, 2 Yoshida A.... Yanagawa Y. (1993)
    5. Cloning and expression of the full-length cDNAS encoding human liver class 1 and class 2 aldehyde dehydrogenase. (PubMed id 8214422)1, 2 Zheng C.F.... Weiner H. (1993)
    6. The 56 kDa androgen binding protein is an aldehyde dehydrogenase. (PubMed id 1709013)1, 3 Pereira F....Wrogemann K. (1991)
    7. Genomic structure of the human cytosolic aldehyde dehydrogenase gene. (PubMed id 2591967)1, 2 Hsu L.C.... Yoshida A. (1989)
    8. Aldehyde dehydrogenase from human erythrocytes: structural relationship to the liver cytosolic isozyme. (PubMed id 2776714)1, 2 Agarwal D.P.... Hempel J. (1989)
    9. Active site of human liver aldehyde dehydrogenase. (PubMed id 3676276)1, 2 Abriola D.P.... Pietruszko R. (1987)
    10. Cloning of cDNAs for human aldehyde dehydrogenases 1 and 2. (PubMed id 2987944)1, 2 Hsu L.C.... Yoshida A. (1985)

    External Searches for ALDH1A1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ALDH1A1 gene

    (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

    Other Databases showing ALDH1A1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ALDH1A1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for 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/

    Intellectual Property
    for ALDH1A1 gene

    (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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