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

ALDH1A3 Gene

protein-coding   GIFtS: 65
GCID: GC15P101419

Aldehyde Dehydrogenase 1 Family, Member A3


(Previous symbol: ALDH6)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Aldehyde Dehydrogenase 1 Family, Member A31 2     RALDH32
ALDH61 2 3 5     Acetaldehyde Dehydrogenase 62
Retinaldehyde Dehydrogenase 31 2 3     Aldehyde Dehydrogenase Family 1 Member A32
Aldehyde Dehydrogenase 62 3     EC 1.2.1.53
RALDH-32 3     RalDH33
ALDH1A62     EC 1.2.18
MCOP82     

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 Gene:
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)

GeneCards Summary for ALDH1A3 Gene: 
ALDH1A3 (aldehyde dehydrogenase 1 family, member A3) is a protein-coding gene. Diseases associated with ALDH1A3 include choanal atresia, and alcoholism, and among its related super-pathways are Metabolism of xenobiotics by cytochrome P450 and Tyrosine metabolism. GO annotations related to this gene include protein homodimerization activity and aldehyde dehydrogenase (NAD) activity. An important paralog of this gene is ALDH1L2.

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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NT_010274.17  NC_018926.2  
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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: 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

Explore proteomics data for ALDH1A3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • 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 MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ALDH1A3 Protein Expression
    REFSEQ proteins: NP_000684.2  
    ENSEMBL proteins: 
     ENSP00000452789   ENSP00000332256   ENSP00000454107   ENSP00000453328   ENSP00000343294  

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    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 HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ALDH: Aldehyde dehydrogenases

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

    Graphical View of Domain Structure for InterPro Entry P47895

    ProtoNet protein and cluster: P47895

    1 Blocks protein domain: IPB002086 Aldehyde dehydrogenase

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


    ALDH1A3 for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         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


    Phenotypes:
         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

    Animal Models:
         MGI mouse knock-outs for ALDH1A3: Aldh1a3tm1Gdu Aldh1a3tm1.1Pcn

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    SwitchGear 3'UTR luciferase reporter plasmidALDH1A3 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ALDH1A3 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Drug metabolism - cytochrome P450
    Metabolism of xenobiotics by cytochrome P4500.77
    Drug metabolism - cytochrome P4500.73
    Chemical carcinogenesis0.77
    2Phenylalanine metabolism
    Phenylalanine metabolism0.36
    Tyrosine metabolism0.36
    3Retinol metabolism
    Retinol metabolism0.95
    4Glycolysis and gluconeogenesis (short map)
    Glycolysis / Gluconeogenesis0.46
    5Metabolism
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    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



    5/9         Kegg Pathways  (Kegg details for ALDH1A3) (see all 9):
        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): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002072optic cup morphogenesis involved in camera-type eye development IEA--
    GO:0002138retinoic acid biosynthetic process IEA--
    GO:0008152metabolic process ----
    GO:0021768nucleus accumbens development IEA--
    GO:0031076embryonic camera-type eye development ----

    ALDH1A3 for ontologies           About GeneDecksing



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

    ALDH1A3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ALDH1A3 (AL1A3)

    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 inferred 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 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    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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    Additional mRNA 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.99971929  DT.100700428  DT.92044922  DT.92045698 
    DT.95082447 

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

    BQ888780 BF438860 BQ889473 BU607923 CB241289 BU172062 AI659909 AA548664 
    AA371048 BM720845 AA126529 AA053280 BM760584 BM848050 BU158010 AW292401 
    AA377896 AA662776 N44575 CB850960 CK430242 BM844037 CD723451 BC069274 

    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)      ALDH1A3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATAAAATGG
    ALDH1A3 Expression
    About this image


    ALDH1A3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/37 selected tissues (see all 37) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Adult Endothelial Cells Blood Brain Barrier
             Thalamus
             N2/LSB induced-cells ( Generation of midbrain dopaminergic, forebrain and hypothalamic...
             ganglion/cranial   
     
     Limb (Muscoskeletal System)    fully expand to see all 7 entries
             Interzone Cells Stylopod Synovial Joint
             Zeugopod
             limb/hindlimb   
     
     Uncategorized (Uncategorized)    fully expand to see all 5 entries
             PureStem progenitor RP1-MV2-16
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Retinal Pigmented Epithelium Progenitor Cells Retinal Pigmented Epithelium
             Retina
             Human Retinal Pigment Epithelial Cells (HRPEpiC)   
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Midgut
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...

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

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ALDH1A3 gene from 9/16 species (see all 16)    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
    Uncharacterized protein
    77(a)
    1 ↔ 1
    GL343383.1(953196-994484)
    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   --
    worm
    (Caenorhabditis elegans)
    Secernentea alh-16
    alh-26
    Protein ALH-2
    58(a)
    56(a)
    many ↔ many
    many ↔ many
    III(5077763-5080674)
    V(1644169-1647728)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ALD66
    ALD46
    (see all 3)
    Cytosolic aldehyde dehydrogenase, activated by Mg2...
    Mitochondrial aldehyde dehydrogenase, required for...
    (see all 3)
    47(a)
    47(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    XVI(432588-434090)
    XV(1039840-1041399)
    soybean
    (Glycine max)
    eudicotyledons 445035742   -- 76.63(n)  
    wheat
    (Triticum aestivum)
    Liliopsida Ta.255962 Triticum aestivum transcribed sequence with weak similarity more 72.39(n)    CK162562.1 


    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  ENSG000002577672  ALDH1A22  ALDH1B12  ALDH7A12  ALDH6A12  ALDH22  
    ALDH8A12  ALDH9A12  ALDH1L12  
    12 SIMAP similar genes for ALDH1A3 using alignment to 5 protein entries:     AL1A3_HUMAN (see all proteins):
    DKFZp686G1675    ALDH2    ALDH1A1    ALDH1A2    ALDH1B1    ALDH1L1
    ALDH1L2    ALDH9A1    ALDH8A1    ALDH5A1    ALDH6A1    ALDH7A1

    ALDH1A3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1039 SNPs in ALDH1A3 are shown (see all 1039)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0693234
    Microphthalmia, isolated, 8 (MCOP8)4--see VAR_0693232 A V mis40--------
    VAR_0693224
    Microphthalmia, isolated, 8 (MCOP8)4--see VAR_0693222 R C mis40--------
    VAR_0693254
    Microphthalmia, isolated, 8 (MCOP8)4--see VAR_0693252 A P mis40--------
    VAR_0693244
    Microphthalmia, isolated, 8 (MCOP8)4--see VAR_0693242 I F mis40--------
    rs1141599121,2
    F--81139444(+) GATTTG/AAGTGC 1 -- int11Minor allele frequency- A:0.01WA 118
    rs80346861,2
    C,F,A,H--81139462(+) ACCAAG/CTATCT 1 -- int116Minor allele frequency- C:0.27NS EA NA WA CSA 797
    rs1849108871,2
    --81139489(+) CCAGGC/GACTTT 1 -- int10--------
    rs1451642411,2
    --81139583(+) GGCAGA/CTCCAC 1 -- int10--------
    rs80348701,2
    C--81139589(+) TCCACA/GGGGCT 1 -- int10--------
    rs1421608741,2
    --81139600(+) TTTGTA/GCCAAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for ALDH1A3 (101402129 - 101456831 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/25 variations for ALDH1A3 (see all 25):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2750166CNV Deletion23290073
    esv4921CNV Deletion18987735
    esv2750165CNV Deletion23290073
    esv1234590CNV Deletion17803354
    esv2547886CNV Deletion19546169
    esv2046145CNV Deletion18987734
    esv1276733CNV Deletion17803354
    esv2750162CNV Deletion23290073
    esv993186CNV Deletion20482838
    esv2750168CNV Deletion23290073


    Human Gene Mutation Database (HGMD): ALDH1A3
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600463    OMIM disorders: --

    UniProtKB/Swiss-Prot: AL1A3_HUMAN, P47895
  • Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]: A disorder of eye formation, ranging from small size of
    a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea
    and lens, scaring of the retina and choroid, and other abnormalities may also be present. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 10 diseases for ALDH1A3:    About MalaCards
    choanal atresia    alcoholism    polycystic ovary syndrome    retinitis
    cytochrome p450    tuberculosis    thyroiditis    prostate cancer
    prostatitis    breast cancer


    ALDH1A3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ALDH1A3
    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 35):
    (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. ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. (PubMed id 23312594)1, 2 Fares-Taie L.... Rozet J.M. (2013)
    3. Positive association between ALDH1A2 and schizophreni a in the Chinese population. (PubMed id 19703508)1, 4 Wan C....He L. (2009)
    4. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (2009)
    5. 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)
    6. 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)
    7. Characterization of retinaldehyde dehydrogenase 3. (PubMed id 16241904)7, 9 Graham C.E....Warren M.J. (2006)
    8. Mutations in ALDH1A3 cause Microphthalmia. (PubMed id 23646827)2 Aldahmesh M.A.... Alkuraya F.S. (2013)
    9. ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm. (PubMed id 23591992)2 Yahyavi M.... Slavotinek A.M. (2013)
    10. Mesenchymal glioma stem cells are maintained by activa ted glycolytic metabolism involving aldehyde dehydrogenase 1A3. (PubMed id 23650391)1 Mao P....Nakano I. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    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)
    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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