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

ALDH5A1 Gene

protein-coding   GIFtS: 71
GCID: GC06P024444

Aldehyde Dehydrogenase 5 Family, Member A1

Microbiology & Infectious Diseases Congress
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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 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 paranoid schizophrenia, and among its related super-pathways are Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell and Neurotransmitter Release Cycle. GO annotations related to this gene include succinate-semialdehyde dehydrogenase [NAD(P)+] activity and protein homodimerization activity. An important paralog of this gene is ALDH16A1.

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 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_007592.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ALDH5A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: SSDH_HUMAN, P51649 (See protein sequence)
Recommended Name: Succinate-semialdehyde dehydrogenase, mitochondrial precursor  
Size: 535 amino acids; 57215 Da
Subunit: Homotetramer
Subcellular location: Mitochondrion
5 PDB 3D structures from and Proteopedia for ALDH5A1:
2W8N (3D)        2W8O (3D)        2W8P (3D)        2W8Q (3D)        2W8R (3D)    
Secondary accessions: B2RD26 G5E949 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P51649

  • 4/24 DME Specific Peptides for ALDH5A1 (P51649) (see all 24)
     KQSGLGR  SGLGREG  ITPWNFP  GPLINEK 

    ALDH5A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ALDH5A1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001071.1  NP_733936.1  

    ENSEMBL proteins: 
     ENSP00000350191   ENSP00000417687   ENSP00000314649   ENSP00000438193  
    Reactome Protein details: P51649
    Human Recombinant Protein Products for ALDH5A1: 
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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    ALDH5A1 for ontologies           About GeneDecksing



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

    5/6 InterPro protein domains (see all 6):
     IPR016162 Ald_DH_N
     IPR016163 Ald_DH_C
     IPR010102 Succ_semiAld_DH
     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,
    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: 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 (GO ID links to tree view):    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  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 - Custom generated mouse model solutions for ALDH5A1 
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    SwitchGear 3'UTR luciferase reporter plasmidALDH5A1 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ALDH5A1 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    2GABA synthesis, release, reuptake and degradation
    GABA synthesis, release, reuptake and degradation0.53
    Neurotransmitter Release Cycle0.53
    3Ifosfamide Pathway, Pharmacodynamics
    Cyclophosphamide Pathway, Pharmacodynamics0.72
    44-aminobutyrate degradation I
    Degradation of GABA0.50
    5Metabolism
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5        Reactome Pathways for ALDH5A1
        Degradation of GABA
    Transmission across Chemical Synapses
    GABA synthesis, release, reuptake and degradation
    Neurotransmitter Release Cycle
    Neuronal System

    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ALDH5A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/26 Interacting proteins for ALDH5A1 (P516493 ENSP000003146494) via UniProtKB, MINT, STRING, and/or I2D (see all 26)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABATP804043, ENSP000002682514I2D: score=2 STRING: ENSP00000268251
    RAB5BP610203I2D: score=4 
    ABHD1Q96SE03I2D: score=1 
    DDX19AQ9NUU73I2D: score=1 
    DLG4P783523I2D: score=1 
    About this table

    Gene Ontology (GO): 5/21 biological process terms (GO ID links to tree view) (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 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

    ALDH5A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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

    10/14 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)

    Search CenterWatch for drugs/clinical trials and news about ALDH5A1 / SSDH

    (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,
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    About This Section

    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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    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 

    24/197 AceView cDNA sequences (see all 197):

    AA765566 BG569889 AI241374 AI028465 BG566224 AL044727 AA455344 AA725259 
    AA486410 AJ427355 AI989680 AW849701 AA780576 BQ187901 CB156819 AA345651 
    Y11192 NM_170740 H46643 AI879031 AW117511 AJ427354 CK823990 BU857231 

    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™, 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

    ALDH5A1 expression in normal human tissues (normalized intensities)      ALDH5A1 embryonic expression: see
    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 
     5/25 selected tissues (see all 25) fully expand
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Lymph (Hematopoietic System)    fully expand to see all 3 entries
             lymph node ; non-germinal center cells   
             LYMPH NODE   
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; squamous epithelial cells   

    See ALDH5A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALDH5A1

    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

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

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ALDH5A1 gene from 9/24 species (see all 24)    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_418909.3  XP_418909.2 
    lizard
    (Anolis carolinensis)
    Reptilia ALDH5A16
    Uncharacterized protein
    76(a)
    1 ↔ 1
    4(54028349-54045922)
    zebrafish
    (Danio rerio)
    Actinopterygii aldh5a11 aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde more 67.6(n)
    70.74(a)
      565235  NM_001110468.1  NP_001103938.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG46853
    Ssadh1
    succinate-semialdehyde dehydrogenase3
    Succinic semialdehyde dehydrogenase1
    52(a)3
    55.12(n)1
    53.32(a)1
      96E63
    430921  NM_001014665.11  NP_001014665.11 
    worm
    (Caenorhabditis elegans)
    Secernentea alh-71 Protein ALH-7 53.8(n)
    50.11(a)
      174991  NM_064436.2  NP_496837.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UGA2(YBR006W)4
    UGA21
    Succinate semialdehyde dehydrogenase involved in the more4
    Uga2p1
    53.64(n)1
    48.74(a)1
      2(247010-248503)4
    8522911, 4  NP_009560.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ALDH5F11 succinate-semialdehyde dehydrogenase 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)
    About This Section
    Paralogs for ALDH5A1 gene
    ALDH16A12  
    11 SIMAP similar genes for ALDH5A1 using alignment to 5 protein entries:     SSDH_HUMAN (see all proteins):
    ALDH1L2    ALDH3B2    DKFZp686G1675    ALDH2    ALDH1A1    ALDH1A2
    ALDH8A1    ALDH9A1    ALDH1A3    ALDH1B1    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) 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

    10/1266 SNPs in ALDH5A1 are shown (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
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/29 diseases for ALDH5A1 (see all 29):    About MalaCards
    succinic semialdehyde dehydrogenase deficiency    paranoid schizophrenia    l-2-hydroxyglutaric aciduria    homocarnosinosis
    d-2-hydroxyglutaric aciduria    juvenile absence epilepsy    2-hydroxyglutaric aciduria    wagr syndrome
    canavan disease    sleep disorder    epilepsy syndrome    status epilepticus
    learning disability    idiopathic generalized epilepsy    williams syndrome    metabolic disorders
    hypotonia    intellectual disability    schizophrenia    down syndrome

    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)
    About This Section

    PubMed articles for ALDH5A1 gene, integrated from 9 sources (see all 111):
    (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. (1995)
    2. Human succinic semialdehyde dehydrogenase. Molecular cloning and chromosomal localization. (PubMed id 9059628)1, 2, 3 Trettel F.... Gibson K.M. (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. (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. (2003)
    5. Redox-switch modulation of human SSADH by dynamic catalytic loop. (PubMed id 19300440)1, 2, 9 Kim Y.-G....Kim K.-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. (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. (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. (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. (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. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 7915 HGNC: 408 AceView: ALDH5A1 Ensembl:ENSG00000112294 euGenes: HUgn7915
    ECgene: ALDH5A1 Kegg: 7915 H-InvDB: ALDH5A1

    (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 ALDH5A1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALDH5A1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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