Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

ALDH8A1 Gene

protein-coding   GIFtS: 50
GCID: GC06M135238

Aldehyde Dehydrogenase 8 Family, Member A1

  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 8 Family, Member A11 2     Aldehyde Dehydrogenase Family Protein2
ALDH122 3 5     EC 1.2.1.-3
Aldehyde Dehydrogenase 122 3     EC 1.2.18
DJ352A20.22     EC 1.2.1.38
Aldehyde Dehydrogenase Family 8 Member A12     

External Ids:    HGNC: 154711   Entrez Gene: 645772   Ensembl: ENSG000001185147   OMIM: 6064675   UniProtKB: Q9H2A23   

Export aliases for ALDH8A1 gene to outside databases

Previous GC identifers: GC06M134861 GC06M135085 GC06M135219 GC06M135280 GC06M132802


(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 ALDH8A1 Gene:
This protein belongs to the aldehyde dehydrogenases family of proteins. It plays a role in a pathway of
9-cis-retinoic acid biosynthesis in vivo. This enzyme converts 9-cis-retinal into the retinoid X receptor ligand
9-cis-retinoic acid, and has approximately 40-fold higher activity with 9-cis-retinal than with
all-trans-retinal. Therefore, it is the first known aldehyde dehydrogenase to show a preference for 9-cis-retinal
relative to all-trans-retinal. Three transcript variants encoding distinct protein isoforms have been identified
for this gene. (provided by RefSeq, Jul 2010)

GeneCards Summary for ALDH8A1 Gene: 
ALDH8A1 (aldehyde dehydrogenase 8 family, member A1) is a protein-coding gene. Diseases associated with ALDH8A1 include sjogren-larsson syndrome, and beta thalassemia. GO annotations related to this gene include retinal dehydrogenase activity. An important paralog of this gene is ALDH1L2.

UniProtKB/Swiss-Prot: AL8A1_HUMAN, Q9H2A2
Function: Converts 9-cis-retinal to 9-cis-retinoic acid. Has lower activity towards 13-cis-retinal. Has much lower
activity towards all-trans-retinal. Has highest activity with benzaldehyde and decanal (in vitro). Has a
preference for NAD, but shows considerable activity with NADP (in vitro)




(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_000006.11  NC_018917.2  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ALDH8A1 gene promoter:
         TBP   Lmo2   Tal-1beta   Evi-1   YY1   E47   POU2F1   POU2F1a   TFIID   FOXO4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALDH8A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ALDH8A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALDH8A1


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

Entrez Gene cytogenetic band: 6q23.2   Ensembl cytogenetic band:  6q23.3   HGNC cytogenetic band: 6q24.1-q25.1

ALDH8A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALDH8A1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M135238:  view genomic region     (about GC identifiers)

Start:
135,238,528 bp from pter      End:
135,271,260 bp from pter
Size:
32,733 bases      Orientation:
minus strand

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

UniProtKB/Swiss-Prot: AL8A1_HUMAN, Q9H2A2 (See protein sequence)
Recommended Name: Aldehyde dehydrogenase family 8 member A1  
Size: 487 amino acids; 53401 Da
Subcellular location: Cytoplasm (By similarity)
Sequence caution: Sequence=AAI14474.1; Type=Erroneous translation; Note=Wrong choice of CDS;
Secondary accessions: B7Z521 O60793 Q24JS9 Q53GT3 Q5TI80
Alternative splicing: 4 isoforms:  Q9H2A2-1   Q9H2A2-2   Q9H2A2-3   Q9H2A2-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ALDH8A1: NX_Q9H2A2

Explore proteomics data for ALDH8A1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H2A2

  • 4 DME Specific Peptides for ALDH8A1 (Q9H2A2)
     NFRFFASS  GLVWTNCWL  EEIFGPVTCV  NQGEICLCTSRIFV 

    ALDH8A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ALDH8A1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001180409.1  NP_072090.1  NP_739577.1  

    ENSEMBL proteins: 
     ENSP00000265605   ENSP00000356819   ENSP00000325473   ENSP00000356821   ENSP00000437161  
     ENSP00000435297  

    Human Recombinant Protein Products for ALDH8A1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ALDH8A1
    OriGene Protein Over-expression Lysate for ALDH8A1
    OriGene MassSpec for ALDH8A1 
    OriGene Custom Protein Services for ALDH8A1
    GenScript Custom Purified and Recombinant Proteins Services for ALDH8A1
    Novus Biologicals ALDH8A1 Proteins
    Novus Biologicals ALDH8A1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ALDH8A1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA11007799
    GO:0005737cytoplasm IEA--

    ALDH8A1 for ontologies           About GeneDecksing



    ALDH8A1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for ALDH8A1
    GenScript Custom Superior Antibodies Services for ALDH8A1
    Novus Biologicals ALDH8A1 Antibodies
    Abcam antibodies for ALDH8A1
    Cloud-Clone Corp. Antibodies for ALDH8A1 
    ThermoFisher Antibodies for ALDH8A1
    LSBio Antibodies in human, mouse, rat for ALDH8A1 

    Assay Products for ALDH8A1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ALDH8A1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ALDH8A1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ALDH8A1 
    Cloud-Clone Corp. CLIAs for ALDH8A1


    (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 Q9H2A2

    ProtoNet protein and cluster: Q9H2A2

    1 Blocks protein domain: IPB002086 Aldehyde dehydrogenase

    UniProtKB/Swiss-Prot: AL8A1_HUMAN, Q9H2A2
    Similarity: Belongs to the aldehyde dehydrogenase family


    ALDH8A1 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: AL8A1_HUMAN, Q9H2A2
    Function: Converts 9-cis-retinal to 9-cis-retinoic acid. Has lower activity towards 13-cis-retinal. Has much lower
    activity towards all-trans-retinal. Has highest activity with benzaldehyde and decanal (in vitro). Has a
    preference for NAD, but shows considerable activity with NADP (in vitro)
    Biophysicochemical properties: Kinetic parameters: KM=17.5 uM for benzaldehyde; KM=3.15 uM for 9-cis-retinal; pH
    dependence: Optimum pH is 9;

         Enzyme Numbers (IUBMB): EC 1.2.12 EC 1.2.1.32 EC 1.2.1.-1

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001758retinal dehydrogenase activity IDA11007799
    GO:0016491oxidoreductase activity ----
    GO:0016620oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor ----
         
    ALDH8A1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ALDH8A1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ALDH8A1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ALDH8A1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ALDH8A1 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ALDH8A1
    6 QIAGEN miScript miRNA Assays for microRNAs that regulate ALDH8A1:
    hsa-miR-7-1* hsa-miR-7-2* hsa-let-7g* hsa-miR-3143 hsa-let-7a-2* hsa-miR-543
    SwitchGear 3'UTR luciferase reporter plasmidALDH8A1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ALDH8A1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ALDH8A1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ALDH8A1
    Sirion Biotech Customized adenovirus for overexpression of ALDH8A1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for ALDH8A1 (see all 18)
    OriGene ORF clones in mouse, rat for ALDH8A1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ALDH8A1 (NM_170771)
    Sino Biological Human cDNA Clone for ALDH8A1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALDH8A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALDH8A1
    Sirion Biotech Customized lentivirus for stable overexpression of ALDH8A1 
                         Customized lentivirus expression plasmids for stable overexpression of ALDH8A1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ALDH8A1
    Search LifeMap BioReagents cell lines for ALDH8A1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDH8A1


    (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




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ALDH8A1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008152metabolic process ----
    GO:0042573retinoic acid metabolic process IDA11007799
    GO:0042574retinal metabolic process IDA11007799
    GO:00429049-cis-retinoic acid biosynthetic process IEA--
    GO:0055114oxidation-reduction process ----

    ALDH8A1 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ALDH8A1 (AL8A1)

    5 HMDB Compounds for ALDH8A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    9-cis-Retinal9-cis-Retinal (see all 5)514-85-2--
    BenzaldehydeAlmond artificial essential oil (see all 30)100-52-7--
    DecanalN-decaldehyde (see all 18)112-31-2--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--

    Search CenterWatch for drugs/clinical trials and news about ALDH8A1 / AL8A1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ALDH8A1 gene (3 alternative transcripts): 
    NM_001193480.1  NM_022568.3  NM_170771.2  

    Unigene Cluster for ALDH8A1:

    Aldehyde dehydrogenase 8 family, member A1
    Hs.486520  [show with all ESTs]
    Unigene Representative Sequence: NM_022568
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265605(uc003qew.3 uc011ecx.2 uc003qex.3 uc010kgh.3)
    ENST00000367845 ENST00000349305 ENST00000367847 ENST00000460753 ENST00000534012

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ALDH8A1
    6 QIAGEN miScript miRNA Assays for microRNAs that regulate ALDH8A1:
    hsa-miR-7-1* hsa-miR-7-2* hsa-let-7g* hsa-miR-3143 hsa-let-7a-2* hsa-miR-543
    SwitchGear 3'UTR luciferase reporter plasmidALDH8A1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ALDH8A1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ALDH8A1
    Clone
    Products:
         
    OriGene clones in human, mouse for ALDH8A1 (see all 18)
    OriGene ORF clones in mouse, rat for ALDH8A1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ALDH8A1 (NM_170771)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALDH8A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALDH8A1
    Sirion Biotech Customized lentivirus for stable overexpression of ALDH8A1 
                         Customized lentivirus expression plasmids for stable overexpression of ALDH8A1 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ALDH8A1
    OriGene qSTAR qPCR primer pairs in human, mouse for ALDH8A1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ALDH8A1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ALDH8A1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ALDH8A1

    Additional mRNA sequence: 

    AF303134.1 AK074266.1 AK222848.1 AK290784.1 AK298325.1 BC020849.1 BC113862.1 BC114473.1 
    BX647324.1 

    7 DOTS entries:

    DT.95256695  DT.308608  DT.101963494  DT.100751611  DT.91844195  DT.92418204  DT.40226263 

    24/251 AceView cDNA sequences (see all 251):

    AL137664 NM_022568 AL519043 BQ232346 BQ776213 AI754529 CA312514 AI284854 
    NM_006620 BX647324 AU125696 CA418991 BI862042 AI467869 CA430319 BC040849 
    AI348521 Z41800 AJ459827 BG284613 AI624626 AI478463 AW117894 AI984975 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ALDH8A1    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c · 8d
    SP1:              -                                                     -                           
    SP2:              -                                   -     -     -     -                           
    SP3:                                                              -     -                           
    SP4:                                                                                                
    SP5:                                                                                                


    ECgene alternative splicing isoforms for ALDH8A1

    (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

    ALDH8A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ALDH8A1 Expression
    About this image


    See ALDH8A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALDH8A1

    SOURCE GeneReport for Unigene cluster: Hs.486520

    UniProtKB/Swiss-Prot: AL8A1_HUMAN, Q9H2A2
    Tissue specificity: Highly expressed in adult kidney and liver. Detected at lower levels in fetal liver and kidney

        SABiosciences Expression via Pathway-Focused PCR Array including ALDH8A1: 
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ALDH8A1
    OriGene qSTAR qPCR primer pairs in human, mouse for ALDH8A1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ALDH8A1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ALDH8A1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ALDH8A1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDH8A1

    (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 ALDH8A1 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aldh8a11 , 5 aldehyde dehydrogenase 8 family, member A11, 5 85.42(n)1
    89.94(a)1
      10 (9.75 cM)5
    2373201  NM_178713.41  NP_848828.11 
     213772915 
    chicken
    (Gallus gallus)
    Aves ALDH8A11 aldehyde dehydrogenase 8 family, member A1 74.61(n)
    79.47(a)
      421695  XM_419732.2  XP_419732.1 
    lizard
    (Anolis carolinensis)
    Reptilia ALDH8A16
    Uncharacterized protein
    78(a)
    1 ↔ 1
    GL343200.1(3239606-3268517)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.138562 Transcribed sequence with moderate similarity to protein more 74.02(n)    BX740972.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi34g052 Transcribed sequence with moderate similarity to protein more 75.34(n)    CK027547.1 
    worm
    (Caenorhabditis elegans)
    Secernentea alh-101 Protein ALH-10 54.07(n)
    52.02(a)
      180979  NM_076802.3  NP_509203.1 
    rice
    (Oryza sativa)
    Liliopsida BU673735.12   -- 68.7(n)    BU673735.1 


    ENSEMBL Gene Tree for ALDH8A1 (if available)
    TreeFam Gene Tree for ALDH8A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ALDH8A1 gene
    ALDH1L22  ALDH1A12  ENSG000002577672  ALDH1A22  ALDH1B12  ALDH7A12  ALDH6A12  ALDH22  
    ALDH9A12  ALDH1L12  ALDH1A32  
    11 SIMAP similar genes for ALDH8A1 using alignment to 3 protein entries:     AL8A1_HUMAN (see all proteins):
    ALDH9A1    ALDH1A1    ALDH1B1    ALDH2    ALDH1A2    ALDH1A3
    DKFZp686G1675    ALDH5A1    ALDH6A1    ALDH1L2    ALDH16A1

    ALDH8A1 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

    10/792 SNPs in ALDH8A1 are shown (see all 792)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2007960571,2
    C--132823924(+) TTATTA/TTATTA 3 -- int10--------
    rs723866611,2
    C--132829386(+) TCATT-/TTTTG 
            
    TTTGT
    3 -- int10--------
    rs791472631,2
    C--132829408(+) GTTTT-/G/    
       GTTTT
    TTAGA
    3 -- int10--------
    rs1140226011,2
    C,F--135238129(+) GCTTTG/CGACAC 3 -- ds50011Minor allele frequency- C:0.23WA 118
    rs1139313161,2
    C,F--135238139(+) CTCCTG/ATCCAG 3 -- ds50013Minor allele frequency- A:0.05CSA WA 122
    rs1178838991,2
    F--135238160(+) AGACAT/GGCAAA 3 -- ds50011Minor allele frequency- G:0.03NA 120
    rs1419620221,2
    --135238222(+) TGCTCC/GGCCAC 3 -- ds50010--------
    rs1146494361,2
    C,F--135238253(+) GAGGTG/AGGTAG 3 -- ds50011Minor allele frequency- A:0.08WA 118
    rs717431681,2
    C--135238422(+) AAAAA-/AAAA  
            
    GCATT
    3 -- ds50010--------
    rs94941161,2
    C,F,H--135238428(+) ACCCTG/ACCTCT 3 -- ds50017Minor allele frequency- A:0.09NS EA NA CSA WA 542

    HapMap Linkage Disequilibrium report for ALDH8A1 (135238528 - 135271260 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ALDH8A1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv5489CNV Loss18451855
    nsv886683CNV Loss21882294
    nsv464063CNV Gain19166990

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ALDH8A1
    DNA2.0 Custom Variant and Variant Library Synthesis for ALDH8A1

    (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: 606467    OMIM disorders: --

    4 diseases for ALDH8A1:    About MalaCards
    sjogren-larsson syndrome    beta thalassemia    retinitis    thalassemia


    ALDH8A1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ALDH8A1
    Human Genome Epidemiology (HuGE) Navigator: ALDH8A1 (1 document)

    Export disorders for ALDH8A1 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 ALDH8A1 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with ALDH8A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning and expression of a human aldehyde dehydrogenase (ALDH) active with 9-cis-retinal and identification of a rat ortholog, ALDH12. (PubMed id 11007799)1, 2, 3, 9 Lin M. and Napoli J.L. (2000)
    2. 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)
    3. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    7. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)2 Mungall A.J.... Beck S. (2003)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    9. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)1 Maruyama K. and Sugano S. (1994)
    10. Identification of AhR-regulated genes involved in PAH -induced immunotoxicity using a highly-sensitive DNA chip, 3D-Gene Human Immuni ty and Metabolic Syndrome 9k. (PubMed id 19737606)9 Iwano S....Miyamoto Y. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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)
    About This Section
    Entrez Gene: 64577 HGNC: 15471 AceView: HBS1LandALDH8A1 Ensembl:ENSG00000118514 euGenes: HUgn64577
    ECgene: ALDH8A1 H-InvDB: ALDH8A1

    (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 ALDH8A1 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 ALDH8A1 gene:
    Search GeneIP for patents involving ALDH8A1

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for ALDH8A1  
     OriGene qPCR primer pairs and template standards for ALDH8A1   OriGene Protein Over-expression Lysate for ALDH8A1  
     OriGene MassSpec something-or-other for ALDH8A1   OriGene clones in human, mouse for ALDH8A1  
     OriGene qSTAR qPCR primer pairs in human, mouse for ALDH8A1   OriGene Purified Protein for ALDH8A1  
     OriGene ORF clones in mouse, rat for ALDH8A1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ALDH8A1   OriGene Custom Protein Services for ALDH8A1  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ALDH8A1
     QIAGEN SeqTarget long-range PCR primers for resequencing ALDH8A1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALDH8A1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ALDH8A1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ALDH8A1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ALDH8A1
     GenScript Custom Purified and Recombinant Proteins Services for ALDH8A1 GenScript cDNA clones with any tag delivered in your preferred vector for ALDH8A1
     GenScript Custom Assay Services for ALDH8A1 GenScript Custom Superior Antibodies Services for ALDH8A1
     GenScript Custom overexpressing Cell Line Services for ALDH8A1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in ALDH8A1 promoter
     Search Chromatin IP Primers for ALDH8A1
     RT2 qPCR Primer Assay in human, mouse, rat ALDH8A1
     Search GNC Networks for ALDH8A1
     SABiosciences PCR Arrays including human, mouse, rat ALDH8A1
     Search Tocris compounds for ALDH8A1 (AL8A1)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     cDNA Clones for ALDH8A1
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     ALDH8A1 antibodies
     ALDH8A1 proteins
     ALDH8A1 lysates
     Antibodies for ALDH8A1
     See all of Abcam's Antibodies, Kits and Proteins for ALDH8A1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for ALDH8A1
     Antibodies for ALDH8A1
     ELISAs for ALDH8A1
     CLIAs for ALDH8A1
     Search LifeMap BioReagents cell lines for ALDH8A1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDH8A1
     SwitchGear 3'UTR luciferase reporter plasmids for ALDH8A1
     SwitchGear Promoter luciferase reporter plasmids for ALDH8A1
     ThermoFisher Antibodies for ALDH8A1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALDH8A1
     inGenious Targeting Laboratory - Custom generated mouse model solutions for ALDH8A1
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ALDH8A1
    Customized:
     lentivirus for stable overexpression of ALDH8A1
     lentivirus expression plasmids for stable overexpression of ALDH8A1
     adenovirus for overexpression of ALDH8A1
     LSBio Antibodies in human, mouse, rat for ALDH8A1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ALDH8A1 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4