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ALDH7A1 Gene

protein-coding   GIFtS: 70
GCID: GC05M125877

Aldehyde Dehydrogenase 7 Family, Member A1


(Previous symbol: ATQ1)
  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)
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Aliases
Aldehyde Dehydrogenase 7 Family, Member A11 2     Antiquitin 11
ATQ11 2 3 5     Delta1-Piperideine-6-Carboxylate Dehydrogenease1
P6c Dehydrogenase1 2 3     antiquitin-12
Alpha-AASA Dehydrogenase1 2 3     Antiquitin-13
26g Turgor Protein Homolog1 2     EC 1.2.1.33
Alpha-Aminoadipic Semialdehyde Dehydrogenase1 2     EC 1.2.1.313
Betaine Aldehyde Dehydrogenase2 3     EC 1.2.1.83
Delta1-Piperideine-6-Carboxylate Dehydrogenase2 3     Aldehyde Dehydrogenase Family 7 Member A13
EPD2 5     EC 1.2.18
PDE2 5     

External Ids:    HGNC: 8771   Entrez Gene: 5012   Ensembl: ENSG000001649047   OMIM: 1073235   UniProtKB: P494193   

Export aliases for ALDH7A1 gene to outside databases

Previous GC identifers: GC05M125514 GC05M126254 GC05M125909 GC05M125956 GC05M125908 GC05M121069


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ALDH7A1 Gene:
The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These
enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and
lipid peroxidation. This particular member has homology to a previously described protein from the green garden
pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the
mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria,
and the two forms likely arise from the use of alternative translation initiation sites. An additional variant
encoding a different isoform has also been found for this gene. Mutations in this gene are associated with
pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. (provided by RefSeq, Jan
2011)

GeneCards Summary for ALDH7A1 Gene:
ALDH7A1 (aldehyde dehydrogenase 7 family, member A1) is a protein-coding gene. Diseases associated with ALDH7A1 include folinic acid-responsive seizures, and pyridoxine-dependent epilepsy. GO annotations related to this gene include betaine-aldehyde dehydrogenase activity and aldehyde dehydrogenase (NAD) activity. An important paralog of this gene is ALDH1L2.

UniProtKB/Swiss-Prot: AL7A1_HUMAN, P49419
Function: Multifunctional enzyme mediating important protective effects. Metabolizes betaine aldehyde to betaine,
an important cellular osmolyte and methyl donor. Protects cells from oxidative stress by metabolizing a number of
lipid peroxidation-derived aldehydes. Involved in lysine catabolism

Gene Wiki entry for ALDH7A1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NC_018916.2  NT_034772.7  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALDH7A1 gene promoter:
         GCNF   CUTL1   PPAR-gamma1   SRY   GCNF-1   POU2F1a   IRF-7A   PPAR-gamma2   GCNF-2   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALDH7A1 promoter sequence
   Search Chromatin IP Primers for ALDH7A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALDH7A1


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

Entrez Gene cytogenetic band: 5q31   Ensembl cytogenetic band:  5q23.2   HGNC cytogenetic band: 5q31

ALDH7A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALDH7A1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M125877:  view genomic region     (about GC identifiers)

Start:
125,877,533 bp from pter      End:
125,931,110 bp from pter
Size:
53,578 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AL7A1_HUMAN, P49419 (See protein sequence)
Recommended Name: Alpha-aminoadipic semialdehyde dehydrogenase precursor  
Size: 539 amino acids; 58487 Da
Subunit: Homotetramer (By similarity)
Sequence caution: Sequence=AAC51935.1; Type=Frameshift; Positions=233, 268; Sequence=AAH02515.3; Type=Erroneous
initiation; Sequence=AAH71712.1; Type=Erroneous initiation; Sequence=AAH73174.1; Type=Erroneous initiation;
Sequence=BAG35366.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for ALDH7A1:
2J6L (3D)    
Secondary accessions: B2R669 B4DIC7 B4DMA0 E7EPT3 O14619 Q6IPU8 Q9BUL4
Alternative splicing: 4 isoforms:  P49419-1   P49419-2   P49419-3   P49419-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ALDH7A1: NX_P49419

Explore proteomics data for ALDH7A1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys452, Lys528, Lys537
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ALDH7A1 (P49419) (see all 6)
     ITAFNFP  LELGGNN  WKQYMRRST  GSDCGIVNVN 


    See ALDH7A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001173.2  NP_001188306.1  NP_001189333.1  

    ENSEMBL proteins: 
     ENSP00000387123   ENSP00000448593   ENSP00000403929   ENSP00000447388   ENSP00000449318  
     ENSP00000414536   ENSP00000414132  
    Reactome Protein details: P49419

    ALDH7A1 Human Recombinant Protein Products:

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

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

    Graphical View of Domain Structure for InterPro Entry P49419

    ProtoNet protein and cluster: P49419

    1 Blocks protein domain: IPB002086 Aldehyde dehydrogenase

    UniProtKB/Swiss-Prot: AL7A1_HUMAN, P49419
    Similarity: Belongs to the aldehyde dehydrogenase family


    ALDH7A1 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AL7A1_HUMAN, P49419
    Function: Multifunctional enzyme mediating important protective effects. Metabolizes betaine aldehyde to betaine,
    an important cellular osmolyte and methyl donor. Protects cells from oxidative stress by metabolizing a number of
    lipid peroxidation-derived aldehydes. Involved in lysine catabolism
    Catalytic activity: (S)-2-amino-6-oxohexanoate + NAD(P)(+) + H(2)O = L-2-aminoadipate + NAD(P)H
    Catalytic activity: Betaine aldehyde + NAD(+) + H(2)O = betaine + NADH
    Catalytic activity: An aldehyde + NAD(+) + H(2)O = a carboxylate + NADH
    Biophysicochemical properties: Kinetic parameters: KM=28.5 uM for nonanal; KM=5.3 uM for trans-2-nonenal; KM=39.1
    uM for hexanal; KM=17.5 uM for octanal; KM=41.1 uM for betaine aldehyde; KM=169 uM for L-2-aminoadipate
    6-semialdehyde; KM=530.2 uM for benzaldehyde; KM=647.4 uM for propanal; KM=7374.3 uM for glyceraldehyde;
    Vmax=364.9 nmol/min/mg enzyme toward nonanal; Vmax=34.9 nmol/min/mg enzyme toward trans-2-nonenal; Vmax=243.3
    nmol/min/mg enzyme toward hexanal; Vmax=72.3 nmol/min/mg enzyme toward octanal; Vmax=101.4 nmol/min/mg enzyme
    toward betaine aldehyde; Vmax=276.2 nmol/min/mg enzyme toward L-2-aminoadipate 6- semialdehyde; Vmax=125.2
    nmol/min/mg enzyme toward benzaldehyde; Vmax=69.9 nmol/min/mg enzyme toward propanal; Vmax=174 nmol/min/mg enzyme
    toward glyceraldehyde;

         Enzyme Numbers (IUBMB): EC 1.2.12 EC 1.2.1.81 EC 1.2.1.31 EC 1.2.1.311

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004029aldehyde dehydrogenase (NAD) activity ISS--
    GO:0004043L-aminoadipate-semialdehyde dehydrogenase activity EXP--
    GO:0005515protein binding IPI--
    GO:0008802betaine-aldehyde dehydrogenase activity IEA--
    GO:0016491oxidoreductase activity ----
         
    ALDH7A1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Aldh7a1):
     normal 

    ALDH7A1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALDH7A1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ALDH7A1
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    miRNA
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    miRTarBase miRNAs that target ALDH7A1:
    hsa-let-7b-5p (MIRT051932), hsa-mir-193b-3p (MIRT041487), hsa-let-7f-5p (MIRT051376), hsa-let-7a-5p (MIRT052595)

    Block miRNA regulation of human, mouse, rat ALDH7A1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate ALDH7A1:
    hsa-miR-579 hsa-miR-511 hsa-miR-1283 hsa-miR-1236
    SwitchGear 3'UTR luciferase reporter plasmidALDH7A1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDH7A1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AL7A1_HUMAN, P49419: Mitochondrion. Nucleus
    AL7A1_HUMAN, P49419: Isoform 2: Cytoplasm, cytosol
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    mitochondrion5
    nucleus5

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA--
    GO:0005759mitochondrial matrix TAS--
    GO:0005829cytosol IEA--

    ALDH7A1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ALDH7A1 About   (see all 16)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism of amino acids and derivatives
    Lysine catabolism0.00
    Lysine biosynthesis0.00
    Metabolism of amino acids and derivatives
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Valine, leucine and isoleucine degradation
    Valine, leucine and isoleucine degradation0.31
    Propanoate metabolism0.31
    4Glucuronidation
    Ascorbate and aldarate metabolism0.61
    5Tryptophan metabolism
    Tryptophan metabolism0.46

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ALDH7A1
        lysine degradation II


    1 Reactome Pathway for ALDH7A1
        Lysine catabolism


    Selected Kegg Pathways  (Kegg details for ALDH7A1) (see all 16):
        Glycolysis / Gluconeogenesis
    Ascorbate and aldarate metabolism
    Fatty acid degradation
    Glycine, serine and threonine metabolism
    Valine, leucine and isoleucine degradation

    UniProtKB/Swiss-Prot: AL7A1_HUMAN, P49419
    Pathway: Amine and polyamine biosynthesis; betaine biosynthesis via choline pathway; betaine from betaine
    aldehyde: step 1/1


    ALDH7A1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including ALDH7A1: 

              Drug Metabolism: Phase I Enzymes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ALDH7A1

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

    Selected Interacting proteins for ALDH7A1 (P494191, 2, 3 ENSP000003871234) via UniProtKB, MINT, STRING, and/or I2D (see all 66)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RECQL5O947622, 3MINT-63233 I2D: score=4 
    DDA1Q9BW613, ENSP000003529284I2D: score=3 STRING: ENSP00000352928
    EPS8Q129291, ENSP000002811724EBI-726842,EBI-375576 STRING: ENSP00000281172
    UBA5Q9GZZ93I2D: score=3 
    ATG10Q9H0Y03I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006081cellular aldehyde metabolic process ISS--
    GO:0006554lysine catabolic process TAS--
    GO:0007605sensory perception of sound TAS9417906
    GO:0008152metabolic process ----
    GO:0019285glycine betaine biosynthetic process from choline IEA--

    ALDH7A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ALDH7A1 (AL7A1)

    Selected HMDB Compounds for ALDH7A1 (see all 31)    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-Butyn-1-al 52844-23-2--
    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--
    4-Trimethylammoniobutanal4-Trimethylammoniobutanal (see all 5)64595-66-0--
    4-Trimethylammoniobutanoic acid4-(N-Trimethylamino)butyrate (see all 8)407-64-7--
    5-Hydroxyindoleacetaldehyde(5-hydroxy-1H-indol-3-yl)acetaldehyde (see all 6)1892-21-3--
    5-Hydroxyindoleacetic acid5-Hydroxy-1H-indole-3-acetate (see all 18)54-16-0--

    1 DrugBank Compound for ALDH7A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--9355735 17139284 17016423

    3 Novoseek inferred chemical compound relationships for ALDH7A1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alpha-aminoadipic semialdehyde 95.7 23 19142996 (3), 18717709 (2), 19294602 (1), 20207735 (1) (see all 8)
    vitamin b6 83.4 11 19294602 (1), 18854520 (1), 19128417 (1), 17376142 (1) (see all 6)
    acetaldehyde 44.2 1 12604200 (1)



    ALDH7A1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ALDH7A1 gene (3 alternative transcripts): 
    NM_001182.4  NM_001201377.1  NM_001202404.1  

    Unigene Cluster for ALDH7A1:

    Aldehyde dehydrogenase 7 family, member A1
    Hs.483239  [show with all ESTs]
    Unigene Representative Sequence: NM_001182
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409134(uc003ktv.3 uc003ktx.3 uc011cxa.2) ENST00000553117
    ENST00000485852 ENST00000497231 ENST00000476328 ENST00000503281 ENST00000509459
    ENST00000433026 ENST00000413020 ENST00000458249 ENST00000510111 ENST00000511266
    ENST00000509270 ENST00000479989 ENST00000412186 ENST00000447989
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    SwitchGear 3'UTR luciferase reporter plasmidALDH7A1 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK021800.1 AK123774.1 AK295526.1 AK297365.1 AK312459.1 BC002515.2 BC071712.1 BC073174.1 
    S74728.1 

    24 DOTS entries:

    DT.100878329  DT.97796047  DT.100878333  DT.417712  DT.92455542  DT.100695250  DT.100878318  DT.100878327 
    DT.75139964  DT.92455530  DT.120851569  DT.100878326  DT.95089972  DT.120851514  DT.120851530  DT.120851565 
    DT.120851575  DT.92455543  DT.95089682  DT.95339877  DT.95339883  DT.100643912  DT.101986510  DT.95114444 

    Selected AceView cDNA sequences (see all 465):

    AU119536 AU139355 AW015756 AL516871 BQ227467 CA976064 BG286501 CR595547 
    CR599602 BU153725 BE545463 CR608879 CB158650 BE734429 BG763499 BE733797 
    BU179675 BU193539 CB159990 BM750223 CB130811 BF056066 AU135961 AA701311 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ALDH7A1 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
    SP1:                    -     -     -                                                                     
    SP2:                    -           -                                                                     
    SP3:                    -     -                                                                           
    SP4:                    -     -     -     -     -                                                         
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for ALDH7A1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ALDH7A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGAAGGTCTA
    ALDH7A1 Expression
    About this image


    ALDH7A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Kidney (Urinary System)
             Metanephros
     
     Thymus (Hematopoietic System)
             Thymus
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Eye (Sensory Organs)
             Lens
    ALDH7A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALDH7A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.483239

    UniProtKB/Swiss-Prot: AL7A1_HUMAN, P49419
    Tissue specificity: Abundant in hepatoma cells and fetal cochlea, ovary, eye, heart, adrenal gland, liver and
    kidney. Low levels present in adult peripheral blood leukocytes and fetal brain, thymus, spleen, skeletal muscle,
    lung and tongue

        Pathway & Disease-focused RT2 Profiler PCR Array including ALDH7A1: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ALDH7A1 gene from Selected species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aldh7a11 , 5 aldehyde dehydrogenase family 7, member A11, 5 85.53(n)1
    88.31(a)1
      18 (30.55 cM)5
    1106951  NM_138600.41  NP_613066.21 
     565096875 
    chicken
    (Gallus gallus)
    Aves ALDH7A11 aldehyde dehydrogenase 7 family, member A1 79.07(n)
    86.63(a)
      426812  XM_424422.4  XP_424422.2 
    lizard
    (Anolis carolinensis)
    Reptilia ALDH7A16
    aldehyde dehydrogenase 7 family, member A1
    81(a)
    1 ↔ 1
    GL343193.1(14211902-14246896)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.255862 Xenopus laevis transcribed sequence with moderate similarity more 74.37(n)    BU901246.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.24302 Danio rerio mRNA similar to aldehyde dehydrogenase more 76.31(n)    BC044367.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG96291 , 3 aldehyde dehydrogenase (NAD+)3
    CG96291
    57(a)3
    55.77(n)1
    56.98(a)1
      76A33
    400971  NM_140842.31  NP_649099.11 
    worm
    (Caenorhabditis elegans)
    Secernentea alh-91 alh-9 61.63(n)
    64.9(a)
      175820  NM_065862.3  NP_498263.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ALDH7B41 ALDH7B4 59.27(n)
    60.2(a)
      841849  NM_104287.4  NP_175812.1 
    rice
    (Oryza sativa)
    Liliopsida Os.79322 Oryza sativa aldehyde dehydrogenase (ALDH) mRNA, complete more 74.57(n)    AK119560.1 


    ENSEMBL Gene Tree for ALDH7A1 (if available)
    TreeFam Gene Tree for ALDH7A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ALDH7A1 gene
    ALDH1L22  ALDH1A12  ENSG000002577672  ALDH1A22  ALDH1B12  ALDH6A12  ALDH22  ALDH8A12  
    ALDH9A12  ALDH1A32  ALDH1L12  
    7 SIMAP similar genes for ALDH7A1 using alignment to 6 protein entries:     AL7A1_HUMAN (see all proteins):
    ALDH1L2    ALDH1A3    ALDH1A2    ALDH9A1    ALDH1B1    ALDH2
    ALDH1A1

    ALDH7A1 for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for ALDH7A1
    PGOHUM00000262847 PGOHUM00000240425 PGOHUM00000235664 PGOHUM00000233076


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ALDH7A1 (see all 1312)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219127071,2,,4
    C,FPyridoxine-dependent epilepsy (PDE)4 pathogenic1126164683(-) ACACAG/CAGACT 6 /Q /E mis12Minor allele frequency- C:0.00NA EU 5867
    VAR_0691874
    Pyridoxine-dependent epilepsy (PDE)4--see VAR_0691872 R Q mis40--------
    VAR_0691884
    Pyridoxine-dependent epilepsy (PDE)4--see VAR_0691882 V G mis40--------
    VAR_0691854
    Pyridoxine-dependent epilepsy (PDE)4--see VAR_0691852 G E mis40--------
    VAR_0691894
    Pyridoxine-dependent epilepsy (PDE)4--see VAR_0691892 S N mis40--------
    VAR_0691864
    Pyridoxine-dependent epilepsy (PDE)4--see VAR_0691862 N I mis40--------
    VAR_0691844
    Pyridoxine-dependent epilepsy (PDE)4--see VAR_0691842 G V mis40--------
    VAR_0317184
    Pyridoxine-dependent epilepsy (PDE)4--see VAR_0317182 A V mis40--------
    rs58712181,2
    C--121069657(+) TAACC-/AAAAAA 3 -- ut312Minor allele frequency- A:0.25NA CSA 4
    rs2005320101,2
    C--121069657(+) TAACCA/CAAAAA 3 -- ut310--------

    HapMap Linkage Disequilibrium report for ALDH7A1 (125877533 - 125931110 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ALDH7A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2677758CNV Deletion23128226
    nsv462442CNV Gain19166990

    Human Gene Mutation Database (HGMD): ALDH7A1
    Locus Specific Mutation Databases (LSDB): ALDH7A1

    Site Specific Mutation Identification with PCR Assays
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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.)
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    OMIM gene information: 107323   
    OMIM disorders: 266100  
    UniProtKB/Swiss-Prot: AL7A1_HUMAN, P49419
  • Pyridoxine-dependent epilepsy (PDE) [MIM:266100]: Characterized by a combination of various seizure
    types. It usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding
    only to immediate administration of pyridoxine hydrochloride. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • Selected diseases for ALDH7A1 (see all 24):    
    About MalaCards
    folinic acid-responsive seizures    pyridoxine-dependent epilepsy    nodular malignant melanoma    cortical blindness
    paroxysmal nocturnal hemoglobinuria    status epilepticus    hemoglobinuria    blindness
    brain disease    retinal degeneration    osteoporosis    huntington's disease
    atopic dermatitis    dermatitis    peritonitis    retinitis
    melanoma    tuberculosis    prostate cancer    prostatitis

    1 disease from the University of Copenhagen DISEASES database for ALDH7A1:
    Cortical blindness

    ALDH7A1 for disorders           About GeneDecksing

    GeneTests: ALDH7A1
    GeneReviews: ALDH7A1
    Genetic Association Database (GAD): ALDH7A1
    Human Genome Epidemiology (HuGE) Navigator: ALDH7A1 (3 documents)

    Export disorders for ALDH7A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ALDH7A1 gene, integrated from 10 sources (see all 63):
    (articles sorted by number of sources associating them with ALDH7A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1). (PubMed id 9417906)1, 2, 3, 9 Skvorak A.B.... Morton C.C. (Genomics 1997)
    2. Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress. (PubMed id 20207735)1, 2, 9 Brocker C.... Vasiliou V. (J. Biol. Chem. 2010)
    3. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. (PubMed id 16491085)1, 2, 9 Mills P.B.... Clayton P.T. (Nat. Med. 2006)
    4. Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. (PubMed id 17068770)1, 2, 9 Plecko B.... Erwa W. (Hum. Mutat. 2007)
    5. Homology between a human protein and a protein of the green garden pea. (PubMed id 8088832)1, 2, 9 Lee P.... Beutler E. (Genomics 1994)
    6. Variants in KCNQ1, AP3S1, MAN2A1, and ALDH7A1 and the risk of type 2 diabetes in the Chinese Northern Han population: a case-control study and meta-analysis. (PubMed id 20512086)1, 4 Zhou J.B....Xin Z. (Med. Sci. Monit. 2010)
    7. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    8. Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis. (PubMed id 20072603)1, 4 Guo Y....Deng H.W. (PLoS Genet. 2010)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. 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. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 501 HGNC: 877 AceView: ALDH7A1 Ensembl:ENSG00000164904 euGenes: HUgn501
    ECgene: ALDH7A1 Kegg: 501 H-InvDB: ALDH7A1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ALDH7A1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ALDH7A1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ALDH7A1 gene:
    Search GeneIP for patents involving ALDH7A1

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



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