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ALDH5A1 Gene

protein-coding   GIFtS: 71
GCID: GC06P024444

Aldehyde Dehydrogenase 5 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)
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Aliases
Aldehyde Dehydrogenase 5 Family, Member A11 2     SSDH2
SSADH2 3 5     Mitochondrial Succinate Semialdehyde Dehydrogenase2
NAD(+)-Dependent Succinic Semialdehyde Dehydrogenase2 3     Succinate-Semialdehyde Dehydrogenase, Mitochondrial2
EC 1.2.1.243 8     Aldehyde Dehydrogenase Family 5 Member A13
Succinate-Semialdehyde Dehydrogenase1     EC 1.2.18

External Ids:    HGNC: 4081   Entrez Gene: 79152   Ensembl: ENSG000001122947   OMIM: 6100455   UniProtKB: P516493   

Export aliases for ALDH5A1 gene to outside databases

Previous GC identifers: GC06P024552 GC06P024603


(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 ALDH5A1 Gene:
This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial
NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as
4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid
(GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous
neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this
gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for ALDH5A1 Gene:
ALDH5A1 (aldehyde dehydrogenase 5 family, member A1) is a protein-coding gene. Diseases associated with ALDH5A1 include succinic semialdehyde dehydrogenase deficiency, and juvenile absence epilepsy. GO annotations related to this gene include succinate-semialdehyde dehydrogenase [NAD(P)+] activity and protein homodimerization activity.

UniProtKB/Swiss-Prot: SSDH_HUMAN, P51649
Function: Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA)

Gene Wiki entry for ALDH5A1 (Aldehyde dehydrogenase 5 family, member A1) 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_000006.12  NC_018917.2  NT_007592.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALDH5A1 gene promoter:
         Max1   RFX1   p53   FOXO3   Cdc5   Meis-1b   Cart-1   Meis-1a   LyF-1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALDH5A1 promoter sequence
   Search Chromatin IP Primers for ALDH5A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALDH5A1


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

Entrez Gene cytogenetic band: 6p22   Ensembl cytogenetic band:  6p22.3   HGNC cytogenetic band: 6p22

ALDH5A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALDH5A1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P024444:  view genomic region     (about GC identifiers)

Start:
24,495,080 bp from pter      End:
24,537,435 bp from pter
Size:
42,356 bases      Orientation:
plus 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: SSDH_HUMAN, P51649 (See protein sequence)
Recommended Name: Succinate-semialdehyde dehydrogenase, mitochondrial precursor  
Size: 535 amino acids; 57215 Da
Subunit: Homotetramer
5 PDB 3D structures from and Proteopedia for ALDH5A1:
2W8N (3D)        2W8O (3D)        2W8P (3D)        2W8Q (3D)        2W8R (3D)    
Secondary accessions: B2RD26 G5E949 Q546H9 Q8N3W6
Alternative splicing: 2 isoforms:  P51649-1   P51649-2   

Explore the universe of human proteins at neXtProt for ALDH5A1: NX_P51649

Explore proteomics data for ALDH5A1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ALDH5A1 (P51649) (see all 24)
     KQSGLGR  SGLGREG  ITPWNFP  GPLINEK 


    See ALDH5A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001071.1  NP_733936.1  

    ENSEMBL proteins: 
     ENSP00000350191   ENSP00000417687   ENSP00000314649   ENSP00000438193  
    Reactome Protein details: P51649

    ALDH5A1 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

    Selected InterPro protein domains (see all 6):
     IPR016163 Ald_DH_C
     IPR010102 Succ_semiAld_DH
     IPR016162 Ald_DH_N
     IPR016161 Ald_DH/histidinol_DH
     IPR015590 Aldehyde_DH_dom

    Graphical View of Domain Structure for InterPro Entry P51649

    ProtoNet protein and cluster: P51649

    1 Blocks protein domain: IPB002086 Aldehyde dehydrogenase

    UniProtKB/Swiss-Prot: SSDH_HUMAN, P51649
    Similarity: Belongs to the aldehyde dehydrogenase family


    ALDH5A1 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: SSDH_HUMAN, P51649
    Function: Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA)
    Catalytic activity: Succinate semialdehyde + NAD(+) + H(2)O = succinate + NADH
    Enzyme regulation: Redox-regulated. Inhibited under oxydizing conditions. Inhibited by hydrogen peroxide H(2)O(2)

         Genatlas biochemistry entry for ALDH5A1:
    NAD+ dependent succinic semialdehyde dehydrogenase,involved in the biosynthesis of gammahydroxybutyrate and in the
    detoxification of xenobiotic carbonyl compounds

         Enzyme Numbers (IUBMB): EC 1.2.1.241 2 EC 1.2.12

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004777succinate-semialdehyde dehydrogenase (NAD+) activity ISS7814412
    GO:0009013succinate-semialdehyde dehydrogenase [NAD(P)+] activity IEA--
    GO:0016491oxidoreductase activity ----
    GO:0042803protein homodimerization activity IC16199352
         
    ALDH5A1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for ALDH5A1:
     Decreased POU5F1-GFP protein e  Decreased viability of wild-ty  Increased S DNA content 

         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Aldh5a1):
     behavior/neurological  growth/size/body  homeostasis/metabolism  mortality/aging  muscle 
     nervous system  renal/urinary system 

    ALDH5A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Aldh5a1tm1Kmg for ALDH5A1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALDH5A1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ALDH5A1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ALDH5A1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ALDH5A1

    miRNA
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    miRTarBase miRNAs that target ALDH5A1:
    hsa-mir-155-5p (MIRT020822), hsa-mir-192-5p (MIRT026627), hsa-mir-24-3p (MIRT030518), hsa-mir-30c-5p (MIRT047973), hsa-mir-215-5p (MIRT024624)

    Block miRNA regulation of human, mouse, rat ALDH5A1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ALDH5A1 (see all 11):
    hsa-miR-22 hsa-miR-548am hsa-miR-4272 hsa-miR-133b hsa-miR-1297 hsa-miR-133a hsa-miR-548x hsa-miR-26a
    SwitchGear 3'UTR luciferase reporter plasmidALDH5A1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ALDH5A1
    Predesigned siRNA for gene silencing in human, mouse, rat ALDH5A1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): ALDH5A1 (NM_170740)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALDH5A1
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDH5A1


    (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
    SSDH_HUMAN, P51649: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    peroxisome2
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ISS--
    GO:0005759mitochondrial matrix TAS--

    ALDH5A1 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 ALDH5A1 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Valproic Acid Pathway, Pharmacodynamics
    Valproic Acid Pathway, Pharmacodynamics
    Degradation of GABA0.00
    2Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    3Neurotransmitter Release Cycle
    Neurotransmitter Release Cycle0.32
    GABA synthesis, release, reuptake and degradation0.00
    4Metabolism
    Metabolic pathways0.38
    5Cyclophosphamide Pathway, Pharmacodynamics
    Cyclophosphamide Pathway, Pharmacodynamics

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for ALDH5A1
        Degradation of GABA

    2 PharmGKB Pathways for ALDH5A1
        Cyclophosphamide Pathway, Pharmacodynamics
    Valproic Acid Pathway, Pharmacodynamics

    3 Kegg Pathways  (Kegg details for ALDH5A1):
        Alanine, aspartate and glutamate metabolism
    Butanoate metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: SSDH_HUMAN, P51649
    Pathway: Amino-acid degradation; 4-aminobutanoate degradation


    ALDH5A1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ALDH5A1: 

              Amino Acid Metabolism II in human mouse rat
              GABA & Glutamate in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ALDH5A1

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

    Selected Interacting proteins for ALDH5A1 (P516493 ENSP000003146494) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABATP804043, ENSP000002682514I2D: score=2 STRING: ENSP00000268251
    RAB5BP610203, ENSP000003534444I2D: score=4 STRING: ENSP00000353444
    ABHD1Q96SE03I2D: score=1 
    DDX19AQ9NUU73I2D: score=1 
    DLG4P783523I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006006glucose metabolic process ISS--
    GO:0006083acetate metabolic process ISS--
    GO:0006105succinate metabolic process ISS--
    GO:0006536glutamate metabolic process ISS--
    GO:0006541glutamine metabolic process ISS--

    ALDH5A1 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 ALDH5A1 (SSDH)

    5 HMDB Compounds for ALDH5A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    Succinic acid1,2-Ethanedicarboxylate (see all 11)110-15-6--
    Succinic acid semialdehyde2-formylpropionic acid ethyl ester (see all 15)692-29-5--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    4 DrugBank Compounds for ALDH5A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Succinic acid1,2-Ethanedicarboxylic acid (see all 8)110-15-6targetinhibitor17619587 16689938 15853764 17584458 11752352 16942602
    Chlormerodrin-- 62-37-3targetinhibitor17139284 5692397 11752352 17016423
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423
    Valproic Acid2-Propylpentanoic Acid (see all 8)99-66-1targetinhibitor12847559

    Selected Novoseek inferred chemical compound relationships for ALDH5A1 gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    succinic semialdehyde 99 102 18846220 (3), 19164088 (3), 16504488 (2), 17457693 (2) (see all 63)
    gamma-hydroxybutyrate 90.7 61 16647690 (4), 19164088 (3), 17457693 (2), 18846220 (2) (see all 18)
    gaba 80.1 123 18846220 (3), 12208142 (3), 19667317 (3), 12743223 (3) (see all 38)
    vigabatrin 73.6 4 8803774 (2), 14595661 (2)
    succinate 63.9 14 19300440 (1), 18846220 (1), 15016427 (1), 19164088 (1) (see all 10)
    alpha-ketoglutarate 49.7 4 15016427 (1), 16290145 (1), 16442322 (1), 10812195 (1)
    glutamate 33.8 10 12740438 (1), 18846220 (1), 19576596 (1), 15016427 (1) (see all 9)
    nad+ 31.9 1 20174634 (1)
    vitamin b6 27.6 1 15021235 (1)
    nadh 24.5 1 18846220 (1)



    ALDH5A1 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 ALDH5A1 gene (2 alternative transcripts): 
    NM_001080.3  NM_170740.1  

    Unigene Cluster for ALDH5A1:

    Aldehyde dehydrogenase 5 family, member A1
    Hs.371723  [show with all ESTs]
    Unigene Representative Sequence: NM_170740
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000357578(uc003nef.3 uc003neg.3) ENST00000491546 ENST00000348925
    ENST00000479394 ENST00000492697 ENST00000546278
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    Selected qRT-PCR Assays for microRNAs that regulate ALDH5A1 (see all 11):
    hsa-miR-22 hsa-miR-548am hsa-miR-4272 hsa-miR-133b hsa-miR-1297 hsa-miR-133a hsa-miR-548x hsa-miR-26a
    SwitchGear 3'UTR luciferase reporter plasmidALDH5A1 3' UTR sequence
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALDH5A1
    Primer
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    OriGene qPCR primer pairs and template standards for ALDH5A1
    OriGene qSTAR qPCR primer pairs in human, mouse for ALDH5A1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ALDH5A1
      QuantiTect SYBR Green Assays in human, mouse, rat ALDH5A1
      QuantiFast Probe-based Assays in human, mouse, rat ALDH5A1

    Additional mRNA sequence: 

    AJ427353.1 AJ427354.2 AJ427355.2 AK025722.1 AK290800.1 AK294699.1 AK314357.1 AK315380.1 
    BC034321.1 L34820.1 Y11192.1 

    5 DOTS entries:

    DT.413838  DT.92432302  DT.405880  DT.97859758  DT.91974726 

    Selected AceView cDNA sequences (see all 197):

    AI241374 AJ427354 AA625256 AI423720 AI096495 NM_170740 CA311310 AW131562 
    BC034321 AA345651 L34820 BU857231 NM_001080 AA765566 AK025722 BQ187901 
    AA782103 AA455344 BM853301 AA693393 AA725259 AI028465 AW135875 BQ214756 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ALDH5A1    About this scheme

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


    ECgene alternative splicing isoforms for ALDH5A1

    (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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    ALDH5A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTATACTTTG
    ALDH5A1 Expression
    About this image


    ALDH5A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    ALDH5A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALDH5A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.371723

    UniProtKB/Swiss-Prot: SSDH_HUMAN, P51649
    Tissue specificity: Brain, pancreas, heart, liver, skeletal muscle and kidney. Lower in placenta

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ALDH5A1: 
              Amino Acid Metabolism II in human mouse rat
              GABA & Glutamate in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for ALDH5A1
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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 ALDH5A1 gene from Selected species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aldh5a11 , 5 aldhehyde dehydrogenase family 5, subfamily A11, 5 81.96(n)1
    86.23(a)1
      13 (10.77 cM)5
    2145791  NM_172532.31  NP_766120.11 
     249075795 
    chicken
    (Gallus gallus)
    Aves ALDH5A11 aldehyde dehydrogenase 5 family, member A1 72.58(n)
    78.43(a)
      420818  XM_418909.4  XP_418909.3 
    lizard
    (Anolis carolinensis)
    Reptilia ALDH5A16
    aldehyde dehydrogenase 5 family, member A1
    76(a)
    1 ↔ 1
    4(54028349-54045922)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia aldh5a11 aldehyde dehydrogenase 5 family, member A1 70.8(n)
    77.89(a)
      100216127  NM_001142106.1  NP_001135578.1 
    zebrafish
    (Danio rerio)
    Actinopterygii aldh5a11 aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde more 67.68(n)
    70.74(a)
      565235  NM_001110468.1  NP_001103938.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG46853
    Ssadh1
    succinate-semialdehyde dehydrogenase3
    Succinic semialdehyde dehydrogenase1
    52(a)3
    54.8(n)1
    52.8(a)1
      96E63
    430921  NM_001014665.21  NP_001014665.11 
    worm
    (Caenorhabditis elegans)
    Secernentea alh-71 alh-7 53.77(n)
    50(a)
      174991  NM_001267464.1  NP_001254393.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UGA2(YBR006W)4
    UGA21
    Succinate semialdehyde dehydrogenase involved in the more4
    UGA21
    53.57(n)1
    48.74(a)1
      2(247010-248503)4
    8522911, 4  NP_009560.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ALDH5F11 ALDH5F1 58.63(n)
    59.54(a)
      844282  NM_106592.4  NP_178062.1 
    rice
    (Oryza sativa)
    Liliopsida Os.98382 Oryza sativa (japonica cultivar-group) cDNA clone0 more 70.12(n)    AK060831.1 


    ENSEMBL Gene Tree for ALDH5A1 (if available)
    TreeFam Gene Tree for ALDH5A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ALDH5A1 gene
    11 SIMAP similar genes for ALDH5A1 using alignment to 4 protein entries:     SSDH_HUMAN (see all proteins):
    ALDH1L2    ALDH3B2    DKFZp686G1675    ALDH1A1    ALDH1A2    ALDH1A3
    ALDH9A1    ALDH8A1    ALDH1B1    ALDH2    ALDH6A1

    ALDH5A1 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), 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 ALDH5A1 (see all 1266)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0262074
    Succinic semialdehyde dehydrogenase deficiency (SSADHD)4--see VAR_0262072 P Q mis40--------
    VAR_0262004
    Succinic semialdehyde dehydrogenase deficiency (SSADHD)4--see VAR_0262002 G R mis40--------
    VAR_0261994
    Succinic semialdehyde dehydrogenase deficiency (SSADHD)4--see VAR_0261992 C F mis40--------
    VAR_0262014
    Succinic semialdehyde dehydrogenase deficiency (SSADHD)4--see VAR_0262012 C Y mis40--------
    VAR_0262064
    Succinic semialdehyde dehydrogenase deficiency (SSADHD)4--see VAR_0262062 P L mis40--------
    VAR_0262084
    Succinic semialdehyde dehydrogenase deficiency (SSADHD)4--see VAR_0262082 G D mis40--------
    VAR_0262054
    Succinic semialdehyde dehydrogenase deficiency (SSADHD)4--see VAR_0262052 N K mis40--------
    VAR_0262034
    Succinic semialdehyde dehydrogenase deficiency (SSADHD)4--see VAR_0262032 N S mis40--------
    VAR_0262104
    Succinic semialdehyde dehydrogenase deficiency (SSADHD)4--see VAR_0262102 G R mis40--------
    VAR_0262024
    Succinic semialdehyde dehydrogenase deficiency (SSADHD)4--see VAR_0262022 T M mis40--------

    HapMap Linkage Disequilibrium report for ALDH5A1 (24495080 - 24537435 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ALDH5A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2648573CNV Deletion19546169
    nsv883480CNV Loss21882294
    esv34020CNV Loss18971310
    nsv519552CNV Gain19592680

    Human Gene Mutation Database (HGMD): ALDH5A1
    Locus Specific Mutation Databases (LSDB): ALDH5A1

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for ALDH5A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610045   
    OMIM disorders: 271980  
    UniProtKB/Swiss-Prot: SSDH_HUMAN, P51649
  • Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]: A rare inborn error of
    4-aminobutyric acid (GABA) metabolism, which leads to accumulation of 4-hydroxybutyric acid in physiologic fluids
    of patients. The disease is clinically characterized by developmental delay, hypotonia, mental retardation,
    ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • Selected diseases for ALDH5A1 (see all 33):    
    About MalaCards
    succinic semialdehyde dehydrogenase deficiency    juvenile absence epilepsy    homocarnosinosis    paranoid schizophrenia
    l-2-hydroxyglutaric aciduria    d-2-hydroxyglutaric aciduria    wagr syndrome    2-hydroxyglutaric aciduria
    canavan disease    epilepsy syndrome    sleep disorder    status epilepticus
    learning disability    idiopathic generalized epilepsy    hypotonia    intellectual disability
    schizophrenia    down syndrome    mental retardation    ischemia

    2 diseases from the University of Copenhagen DISEASES database for ALDH5A1:
    Succinic semialdehyde dehydrogenase deficiency     Homocarnosinosis

    ALDH5A1 for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for ALDH5A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    language delay 70.2 2 19300440 (1), 12891656 (1)
    absence seizures 57.7 4 15582027 (2), 15134710 (1)
    developmental delay 57.1 3 12891656 (1), 15021235 (1)
    epilepsy, idiopathic generalized 49.6 4 16406321 (2), 15134710 (1)
    epilepsy 44.7 9 16298354 (1), 17457693 (1), 19172412 (1), 18696252 (1) (see all 8)
    mental retardation 44.6 7 15016427 (2), 16298354 (1), 9093300 (1), 16647690 (1) (see all 5)
    metabolic disorder 38.6 4 16171286 (1), 9683595 (1), 14635103 (1)
    genetic disorder 31.3 2 16203683 (1), 15037717 (1)
    disability 0 3 19172412 (1), 14981524 (1), 15287248 (1)

    Genatlas disease: ALDH5A1
    4-hydroxybutyric aciduria characterized by psychomotor retardation,ataxia,hypotonia

    GeneTests: ALDH5A1
    GeneReviews: ALDH5A1
    Genetic Association Database (GAD): ALDH5A1
    Human Genome Epidemiology (HuGE) Navigator: ALDH5A1 (13 documents)

    Export disorders for ALDH5A1 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 ALDH5A1 gene, integrated from 10 sources (see all 114):
    (articles sorted by number of sources associating them with ALDH5A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression. (PubMed id 7814412)1, 2, 3, 9 Chambliss K.L.... Gibson K.M. (J. Biol. Chem. 1995)
    2. Human succinic semialdehyde dehydrogenase. Molecular cloning and chromosomal localization. (PubMed id 9059628)1, 2, 3 Trettel F.... Gibson K.M. (Adv. Exp. Med. Biol. 1997)
    3. Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity. (PubMed id 16406321)1, 4, 9 Lorenz S....Sander T. (Neurosci. Lett. 2006)
    4. Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. (PubMed id 14635103)1, 2, 9 Akaboshi S.... Gibson K.M. (Hum. Mutat. 2003)
    5. Redox-switch modulation of human SSADH by dynamic catalytic loop. (PubMed id 19300440)1, 2, 9 Kim Y.-G....Kim K.-J. (EMBO J. 2009)
    6. Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms. (PubMed id 12208142)1, 2, 9 Blasi P.... Malaspina P. (Mol. Genet. Metab. 2002)
    7. Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T>A of the ALDH5A1 gene. (PubMed id 11901270)1, 2, 9 Aoshima T.... Niwa T. (Hum. Hered. 2002)
    8. Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). (PubMed id 9683595)1, 2, 9 Chambliss K.L.... Gibson K.M. (Am. J. Hum. Genet. 1998)
    9. A functional polymorphism in the succinate-semialdehyde dehydrogenase (aldehyde dehydrogenase 5 family, member A1) gene is associated with cognitive ability. (PubMed id 14981524)1, 4, 9 Plomin R....O'Donovan M.C. (Mol. Psychiatry 2004)
    10. Cognitive functioning and survival in the elderly: the SSADH C538T polymorphism. (PubMed id 18505418)1, 4, 9 De Rango F....De Benedictis G. (Ann. Hum. Genet. 2008)

    (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: 7915 HGNC: 408 AceView: ALDH5A1 Ensembl:ENSG00000112294 euGenes: HUgn7915
    ECgene: ALDH5A1 Kegg: 7915 H-InvDB: ALDH5A1

    (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)
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    NameDescription
    PharmGKB entry for ALDH5A1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ALDH5A1[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 ALDH5A1 gene:
    Search GeneIP for patents involving ALDH5A1

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



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