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

ALDH1A3 Gene

protein-coding   GIFtS: 63
GCID: GC15P101419

aldehyde dehydrogenase 1 family, member A3


(Previous symbol: ALDH6)
 Explore 11 diseases affiliated with
ALDH1A3 via our new
 Human Malady Compendium 
Biological research products
for ALDH1A3
    

(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 A31 2     ALDH1A62
ALDH61 2 3 5     Acetaldehyde Dehydrogenase 62
RALDH31 2     Aldehyde Dehydrogenase Family 1 Member A32
Aldehyde Dehydrogenase 62 3     EC 1.2.1.53
Retinaldehyde Dehydrogenase 32 3     RalDH33
RALDH-32 3     EC 1.2.18

External Ids:    HGNC: 4091   Entrez Gene: 2202   Ensembl: ENSG000001842547   OMIM: 6004635   UniProtKB: P478953   

Export aliases for ALDH1A3 gene to outside databases

Previous GC identifers: GC15P098102 GC15P095259 GC15P099012 GC15P099156 GC15P099157 GC15P099237 GC15P077542


(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 ALDH1A3:
Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by
alcohol metabolism and lipid peroxidation. The enzyme encoded by this gene uses retinal as a substrate, either in a
free or cellular retinol-binding protein form. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: AL1A3_HUMAN, P47895
Function: Recognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. Seems to be the key
enzyme in the formation of an RA gradient along the dorso-ventral axis during the early eye development and also in
the development of the olfactory system (By similarity)

Gene Wiki entry for ALDH1A3


(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_000015.9  NC_018926.1  NT_010274.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ALDH1A3 gene promoter:
         HOXA9   HOXA9B   CUTL1   Meis-1b   POU2F1   POU2F1a   Meis-1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ALDH1A3 promoter sequence
   Search SABiosciences Chromatin IP Primers for ALDH1A3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALDH1A3


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

Entrez Gene cytogenetic band: 15q26.3   Ensembl cytogenetic band:  15q26.3   HGNC cytogenetic band: 15q26

ALDH1A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALDH1A3 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P101419:  view genomic region     (about GC identifiers)

Start:
101,402,129 bp from pter      End:
101,456,831 bp from pter
Size:
54,703 bases      Orientation:
plus strand

(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: AL1A3_HUMAN, P47895 (See protein sequence)
Recommended Name: Aldehyde dehydrogenase family 1 member A3  
Size: 512 amino acids; 56108 Da
Subcellular location: Cytoplasm (By similarity)
Secondary accessions: Q6NT64

Explore the universe of human proteins at neXtProt for ALDH1A3: NX_P47895

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P47895

  • 4/19 DME Specific Peptides for ALDH1A3 (P47895) (see all 19)
     TLELGGK  RHEPIGV  ITPWNFP  VTLELGG 

    ALDH1A3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000684.2  
    ENSEMBL proteins: 
     ENSP00000452789   ENSP00000332256   ENSP00000454107   ENSP00000453328   ENSP00000343294  

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    Uscn Proteins for ALDH1A3

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA11585737


    ALDH1A3 for ontologies           About GeneDecksing



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

    ALDH1A3 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 P47895

    ProtoNet protein and cluster: P47895

    1 Blocks protein family: IPB002086 Aldehyde dehydrogenase

    UniProtKB/Swiss-Prot: AL1A3_HUMAN, P47895
    Similarity: Belongs to the aldehyde dehydrogenase family


    (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: AL1A3_HUMAN, P47895
    Function: Recognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. Seems to be the key
    enzyme in the formation of an RA gradient along the dorso-ventral axis during the early eye development and also in
    the development of the olfactory system (By similarity)
    Catalytic activity: An aldehyde + NAD(P)(+) + H(2)O = a carboxylate + NAD(P)H

    Enzyme Numbers (IUBMB): EC 1.2.12 EC 1.2.1.51

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    hsa-miR-125a-5p hsa-miR-106a hsa-miR-4263 hsa-miR-340 hsa-miR-144 hsa-miR-125b hsa-miR-93 hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidALDH1A3 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004029aldehyde dehydrogenase (NAD) activity IEA--
    GO:0004030aldehyde dehydrogenase [NAD(P)+] activity IDA11585737
    GO:0016491oxidoreductase activity ----
    GO:0016620oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor ----
    GO:0042803protein homodimerization activity IDA11585737


    ALDH1A3 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for ALDH1A3: Aldh1a3tm1Gdu Aldh1a3tm1.1Pcn
         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Aldh1a3):
     craniofacial  embryogenesis  endocrine/exocrine gland  mortality/aging  normal 
     renal/urinary system  respiratory system  skeleton  vision/eye 

    ALDH1A3 for phenotypes           About GeneDecksing


    (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 - 5/9 super-pathways (see all 9About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Retinol metabolism
    Retinol metabolism1.00
    Retinol metabolism0.95
    2Drug metabolism - cytochrome P450
    Drug metabolism - cytochrome P4501.00
    Metabolism of xenobiotics by cytochrome P4500.73
    3Tyrosine metabolism
    Tyrosine metabolism1.00
    Phenylalanine metabolism0.35
    4Vitamin A and carotenoid metabolism
    Vitamin A and carotenoid metabolism1.00
    5beta-Alanine metabolism
    beta-Alanine metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for ALDH1A3
        Retinol metabolism


    1 GeneGo (Thomson Reuters) Pathway for ALDH1A3
        Retinol metabolism

    2 BioSystems Pathways for ALDH1A3 
        Vitamin A and carotenoid metabolism
    retinoate biosynthesis I


    5/8         Kegg Pathways  (Kegg details for ALDH1A3) (see all 8):
        Glycolysis / Gluconeogenesis
    Histidine metabolism
    Tyrosine metabolism
    Phenylalanine metabolism
    beta-Alanine metabolism

    UniProtKB/Swiss-Prot: AL1A3_HUMAN, P47895
    Pathway: Cofactor metabolism; retinol metabolism


    ALDH1A3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ALDH1A3

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

    5/47 Interacting proteins for ALDH1A3 (ENSP000003322564) via UniProtKB, MINT, STRING, and/or I2D (see all 47)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABATENSP000002682514STRING: ENSP00000268251
    ACSS1ENSP000003169244STRING: ENSP00000316924
    ACSS2ENSP000003538044STRING: ENSP00000353804
    ADH1AENSP000002096684STRING: ENSP00000209668
    ADH4ENSP000002655124STRING: ENSP00000265512
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001822kidney development ----
    GO:0002072optic cup morphogenesis involved in camera-type eye development IEA--
    GO:0002138retinoic acid biosynthetic process IEA--
    GO:0021768nucleus accumbens development IEA--
    GO:0021983pituitary gland development ----


    ALDH1A3 for ontologies           About GeneDecksing



    (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

    ALDH1A3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ALDH1A3

    10/42 HMDB Compounds for ALDH1A3 (see all 42)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (S)-Methylmalonic acid semialdehyde(S)-Methylmalonate semialdehyde (see all 3)99043-16-0--
    2-Propyn-1-al ----
    3,4-Dihydroxybenzeneacetic acid(3,4-Dihydroxyphenyl)acetate (see all 23)102-32-9--
    3,4-Dihydroxymandelaldehyde3,4-Dihydroxyphenylglycolaldehyde (see all 4)13023-73-9--
    3,4-DihydroxyphenylacetaldehydeProtocatechuatealdehyde (see all 2)5707-55-1--
    3-Butyn-1-al 52844-23-2--
    3-Methoxy-4-hydroxyphenylglycolaldehydea,4-dihydroxy-3-methoxy-Benzeneacetaldehyde (see all 4)17592-23-3--
    3a,7a-Dihydroxy-5b-cholestan-26-al3a,7a-Dihydroxy-5b-cholestan-26-al;3alpha,7alpha-dihydroxy-5beta-cholestan-27-al;5beta-cholestane-3alpha,7alpha-diol-27-al;5beta-cholestan-27-al-3alpha,7alpha-diol ----
    4-Acetamidobutanoic acidN-Acetyl-4-aminobutanoate (see all 11)3025-96-5--
    4-Aminobutyraldehyde4-amino-butanal (see all 5)4390-05-0--

    2 DrugBank Compounds for ALDH1A3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Vitamin A[11,12-3H]-Retinol (see all 18)68-26-8target--17270546 15950969 17184764 17486539
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423 16241904

    5 Novoseek chemical compound relationships for ALDH1A3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinaldehyde 90.3 9 11013254 (2), 11044606 (2), 11585737 (1), 16241904 (1)
    retinoic acid 67.1 19 11585737 (6), 17526768 (2), 12734205 (1), 10906479 (1) (see all 7)
    vitamin a 48.6 2 11585737 (1), 12734205 (1)
    nad+ 47.7 4 16241904 (3), 17526768 (1)
    testosterone 19.6 7 17526768 (4)

    Search CenterWatch for drugs/clinical trials and news about ALDH1A3 / AL1A3 

    (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,
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    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 ALDH1A3 gene: 
    NM_000693.2  

    Unigene Cluster for ALDH1A3:

    Aldehyde dehydrogenase 1 family, member A3
    Hs.459538  [show with all ESTs]
    Unigene Representative Sequence: NM_000693
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000558568 ENST00000561338 ENST00000329841(uc002bwn.4 uc010bpb.3)
    ENST00000558033 ENST00000557963 ENST00000560555 ENST00000346623 ENST00000558869


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    hsa-miR-125a-5p hsa-miR-106a hsa-miR-4263 hsa-miR-340 hsa-miR-144 hsa-miR-125b hsa-miR-93 hsa-miR-29a*
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    Additional cDNA sequence: 

    AK302607.1 AK303441.1 AK312303.1 AL110109.1 BC069274.1 BX538027.1 U07919.1 Z36841.1 

    9 DOTS entries:

    DT.217181  DT.95082437  DT.99997060  DT.91747481  DT.95082447  DT.99971929  DT.100700428  DT.92044922 
    DT.92045698 

    24/190 AceView cDNA sequences (see all 190):

    CD609396 BM848050 BU684417 BQ888780 N44575 BU158010 BC069274 CB850644 
    BM782307 AI810988 CB241289 AA371048 AI659909 BC009245 BQ889473 AA377896 
    AA662776 AW292401 BF064248 BU166953 BU607923 CK430242 BM969873 CD723451 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for ALDH1A3    About this scheme

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


    ECgene alternative splicing isoforms for ALDH1A3

    (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

    ALDH1A3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TATAAAATGG

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

    About this image

    ALDH1A3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/22 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 22
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeRetinal Pigmented EpitheliumRetinal Pigmented Epithelium Progenitor CellsRetinal Pigmented Epithelium
    Reproductive SystemMesonephrosMesonephric cellsReproductive System
    Surface EctodermSurface EctodermOral Ectoderm CellsEctoderm, Epidermis
    BrainBlood Brain BarrierAdult Endothelial CellsBlood Brain Barrier, Endothelium
    BrainBlood Brain BarrierEndothelial CellsBlood Brain Barrier, Endothelium
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    KidneyUreteric BudUreteric Bud CellsKidney
    KidneyUreteric BudUreteric Bud Tip CellsKidney
    LimbStylopod Synovial JointInterzone CellsCartilage
    BoneMaxillary ProcessBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/11 LifeMap Cells (see all 11
    NameCategory
    PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial progenitor 30-SM2-1 (Embryonic Progenitor Cell)Endothelium
    PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)Endothelium
    PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)Lateral Plate Mesoderm, Neural Crest
    PureStem™ progenitor E44 (Embryonic Progenitor Cell)
    PureStem™ progenitor EN27 (Embryonic Progenitor Cell)
    PureStem™ progenitor F15 (Embryonic Progenitor Cell)
    Blimp1- mVenus and stella-ECFP genetically modified stem cells (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    N2/LSB induced-cells (Generation of midbra...)
    Definitive endoderm-like cells (A scalable, suspensi...)

    See ALDH1A3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALDH1A3

    SOURCE GeneReport for Unigene cluster: Hs.459538

    UniProtKB/Swiss-Prot: AL1A3_HUMAN, P47895
    Tissue specificity: Expressed at low levels in many tissues and at higher levels in salivary gland, stomach, and kidney

        SABiosciences Expression via Pathway-Focused PCR Arrays including ALDH1A3: 
              Cellular Senescence in human mouse rat
              Drug Metabolism: Phase I Enzymes 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 last universal common ancestor (LUCA).

    Orthologs for ALDH1A3 gene from 8/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aldh1a31 , 5 aldehyde dehydrogenase family 1, subfamily A31, 5 87.24(n)1
    93.95(a)1
      7 (35.73 cM)5
    568471  NM_053080.31  NP_444310.31 
     663908925 
    chicken
    (Gallus gallus)
    Aves ALDH1A31 aldehyde dehydrogenase 1 family, member A3 77.54(n)
    86.13(a)
      395389  NM_204669.1  NP_990000.1 
    lizard
    (Anolis carolinensis)
    Reptilia ALDH1A36
    --
    77(a)
    1 ↔ 1
    GL343383.1(953289-994484)
    zebrafish
    (Danio rerio)
    Actinopterygii aldh1a31 aldehyde dehydrogenase 1 family, member A3 68.25(n)
    70.75(a)
      751785  NM_001044745.1  NP_001038210.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG37523 aldehyde dehydrogenase (NAD+) 61(a)   30B3   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ALDH2B46
    ALDH2B76
    (see all 5)
    aldehyde dehydrogenase 2B7
    (see all 5)
    52(a)
    52(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    3(17716867-17720020)
    1(8412051-8414879)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 7)
    aldehyde dehydrogenase, putative, expressed
    (see all 7)
    51(a)
    50(a)
    (see all 7)
    many ↔ many
    many ↔ many
    (see all 7)
    6(23288527-23291318)
    1(23096212-23105259)
    E. coli
    (Escherichia coli)
    Gamma proteobacteria aldB6
    aldehyde dehydrogenase B
    38(a)
    possible ortholog
    Chromosome(3752996-3754534)


    ENSEMBL Gene Tree for ALDH1A3 (if available)
    TreeFam Gene Tree for ALDH1A3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ALDH1A3 gene
    ALDH1L22  ALDH1A12  ALDH1A22  ENSG000002577672  ALDH1B12  ALDH7A12  ALDH22  ALDH16A12  
    ALDH8A12  ALDH9A12  ALDH1L12  
    12 SIMAP similar genes for ALDH1A3 using alignment to 5 protein entries:     AL1A3_HUMAN (see all proteins):
    DKFZp686G1675    ALDH1A2    ALDH1A1    ALDH2    ALDH1B1    ALDH1L1
    ALDH1L2    ALDH9A1    ALDH8A1    ALDH5A1    ALDH6A1    ALDH7A1

    ALDH1A3 for paralogs           About GeneDecksing



    (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

    10/791 NCBI SNPs in ALDH1A3 are shown (see all 791    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs740418121,2
    C,--77540619(+) TCACCC/TGTAAA 1 -- us2k12Minor allele frequency- T:0.07WA 120
    rs1511932021,2
    --101418028(+) GGCTC-/CTGAGACCAG
    ACGCCTCGGGTCA
    CAAGG
    1 -- us2k10--------
    rs1927867631,2
    --101418136(+) CAAACA/GGGCTC 1 -- us2k10--------
    rs1412407471,2
    --101418223(+) TAACAC/GAGTTT 1 -- us2k10--------
    rs2018208451,2
    --101418250(+) TCAGA-/TTTTTT 1 -- us2k10--------
    rs1829012341,2
    --101418260(+) TTTTTA/TAAATC 1 -- us2k10--------
    rs1884592361,2
    --101418301(+) ACCCCC/TGATAA 1 -- us2k10--------
    rs38095271,2
    C,F,H,--101418335(-) GATGCT/CTTACA 1 -- us2k110Minor allele frequency- C:0.32NA WA EA 372
    rs1921270671,2
    --101418340(+) AGCATC/TTCTAG 1 -- us2k10--------
    rs38095261,2
    C,F,A,H,--101418341(-) ACTAGG/AGATGC 1 -- us2k114Minor allele frequency- A:0.49NA WA CSA EA 377

    HapMap Linkage Disequilibrium report for ALDH1A3 (101402129 - 101456831 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 12 variations for ALDH1A3
         3 CNVs: 2201 72379 102186
         9 Indels: 45395 25599 42429 40124 11819 25601 61482 25600 42898

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

    ALDH1A3 for disorders           About GeneDecksing

    OMIM gene information: 600463    OMIM disorders: --

    11 diseases for ALDH1A3:    About MalaCards
    retinol binding protein    choanal atresia    retinitis    polycystic ovary syndrome
    alcoholism    prostate cancer    breast cancer    prostatitis
    tuberculosis    thyroiditis    mycobacterium tuberculosis

    Human Genome Epidemiology (HuGE) Navigator: ALDH1A3 (2 documents)

    Export disorders for ALDH1A3 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 ALDH1A3 gene, integrated from 9 sources (see all 30):
    (articles sorted by number of sources associating them with ALDH1A3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning, genomic organization, and chromosomal localization of an additional human aldehyde dehydrogenase gene, ALDH6. (PubMed id 7698756)1, 2, 3, 9 Hsu L.C.... Hsieh C.-L. (1994)
    2. 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)
    3. Retinoic acid biosynthesis by normal human breast epithelium is via aldehyde dehydrogenase 6, absent in MCF-7 cells. (PubMed id 11585737)1, 9 Rexer B.N....Ong D.E. (2001)
    4. Characterization of retinaldehyde dehydrogenase 3. (PubMed id 16241904)7, 9 Graham C.E....Warren M.J. (2006)
    5. Aldehyde dehydrogenase activity is a biomarker of prim itive normal human mammary luminal cells. (PubMed id 22131125)1 Eirew P....Eaves C.J. (2012)
    6. Aldehyde dehydrogenase activity of breast cancer stem cells is primarily due to isoform ALDH1A3 and its expression is predictive of metastasis. (PubMed id 21280157)1 Marcato P....Lee P.W. (2011)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. Aldehyde dehydrogenase 1A3 is transcriptionally activ ated by all-trans-retinoic acid in human epidermal keratinocytes. (PubMed id 20709019)1 Koenig U....Tschachler E. (2010)
    10. Consequences of lineage-specific gene loss on functio nal evolution of surviving paralogs: ALDH1A and retinoic acid signaling in vert ebrate genomes. (PubMed id 19478994)1 CaA+estro C....Postlethwait J.H. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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      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: 220 HGNC: 409 AceView: ALDH1A3 Ensembl:ENSG00000184254 euGenes: HUgn220
    ECgene: ALDH1A3 Kegg: 220 H-InvDB: ALDH1A3

    (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 ALDH1A3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ALDH1A3 gene:
    Search GeneIP for patents involving ALDH1A3

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



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