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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 accu... See more...
Aliases for ALDH5A1 Gene
Aliases for ALDH5A1 Gene
External Ids for ALDH5A1 Gene
- HGNC: 408
- Entrez Gene: 7915
- Ensembl: ENSG00000112294
- OMIM: 610045
- UniProtKB: P51649
Previous GeneCards Identifiers for ALDH5A1 Gene
- GC06P024552
- GC06P024603
- GC06P024444
Summaries 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 Gamma-Amino Butyric Acid Metabolism Disorder. Among its related pathways are Neurotransmitter Release Cycle and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and aldehyde dehydrogenase (NAD) activity. An important paralog of this gene is ALDH1L1.
UniProtKB/Swiss-Prot Summary for ALDH5A1 Gene
-
Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).
Additional gene information for ALDH5A1 Gene
- HGNC(408)
- Entrez Gene(7915)
- Ensembl(ENSG00000112294)
- OMIM(610045)
- UniProtKB(P51649)
- Open Targets Platform(ENSG00000112294)
- Monarch Initiative
- Search for ALDH5A1 at DataMed
- Search for ALDH5A1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALDH5A1 Gene
Genomics for ALDH5A1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ALDH5A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ALDH5A1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALDH5A1
- Top Transcription factor binding sites by QIAGEN in the ALDH5A1 gene promoter:
-
- Cart-1
- Cdc5
- FOXO3
- LyF-1
- Max1
- Meis-1
- Meis-1a
- Meis-1b
- p53
- RFX1
Genomic Locations for ALDH5A1 Gene
Genomic Locations for ALDH5A1 Gene
- chr6:24,494,867-24,537,207
- (GRCh38/hg38)
- Size:
- 42,341 bases
- Orientation:
- Plus strand
- chr6:24,495,080-24,537,435
- (GRCh37/hg19)
- Size:
- 42,356 bases
- Orientation:
- Plus strand
Genomic View for ALDH5A1 Gene
Genes around ALDH5A1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p22.3 by HGNC
- 6p22.3 by Entrez Gene
- 6p22.3 by Ensembl
ALDH5A1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ALDH5A1 Gene
Proteins for ALDH5A1 Gene
-
Protein details for ALDH5A1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P51649-SSDH_HUMAN
- Recommended name:
- Succinate-semialdehyde dehydrogenase, mitochondrial
- Protein Accession:
- P51649
- B2RD26
- G5E949
- Q546H9
- Q8N3W6
Protein attributes for ALDH5A1 Gene
- Size:
- 535 amino acids
- Molecular mass:
- 57215 Da
- Quaternary structure:
-
- Homotetramer.
Three dimensional structures from OCA and Proteopedia for ALDH5A1 Gene
Protein Expression for ALDH5A1 Gene
Selected DME Specific Peptides for ALDH5A1 Gene
- P51649:
-
- FLEWFSEEARR
- VTGGKRHQLGKNFFEPTLLCNVTQDMLCTHEETFGPLAP
- ITPWNFPSAMITRKVGAALAAGCTVVVKPAEDTP
- EARAAVRAAY
- FLVQRGIHD
- ASKFRNTGQTCVCSN
- DSFVGGRWLP
- AIANAADVGLAGYFYSQDPAQIWRVAEQLEVGMVGVNE
- SGLGREG
- TGKILLHHAANSVKRVSMELGGLAPFIVFDSANVDQAV
- AMITRKVG
- GVYNVIPCSR
- VGVNEGLIS
- KQSGLGR
- GTTQGPLIN
- ITPWNFP
- APFIVFD
- CTDPLVSKISFTGST
- PAPGPAQLR
- TPFSALALAELA
- IITAESGKPLKEA
- GPLINEK
- WREVSAKERSSLLRKWY
- GAALAAGCT
Post-translational modifications for ALDH5A1 Gene
Other Protein References for ALDH5A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences ALDH5A1 Antibody (LS-B9002) and ALDH5A1 Antibody (LS-B9530)
-
Custom Antibody ServicesOriGene Antibodies for ALDH5A1
- Novus Biologicals Antibodies for ALDH5A1
-
Abcam antibodies for ALDH5A1
- Invitrogen Antibodies for ALDH5A1 (AFLGC-ALDH5A1)
-
Boster Bio Antibodies for ALDH5A1
-
Custom Antibody ServicesProSci Antibodies for ALDH5A1
-
Santa Cruz Biotechnology (SCBT) Antibodies for ALDH5A1
- Sino Biological Antibodies for ALDH5A1
Protein Products
-
OriGene Purified Proteins for ALDH5A1
- Search Origene for MassSpec and Protein Over-expression Lysates for ALDH5A1
- Origene Custom Protein Services for ALDH5A1
- ProSpec Recombinant Proteins for ALDH5A1
-
Abcam proteins for ALDH5A1
Assay Products
-
Signalway ELISA kits for ALDH5A1
Domains & Families for ALDH5A1 Gene
Gene Families for ALDH5A1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for ALDH5A1 Gene
- InterPro:
- Blocks:
-
- Aldehyde dehydrogenase
- ProtoNet:
Suggested Antigen Peptide Sequences for ALDH5A1 Gene
- GenScript: Design optimal peptide antigens:
-
- Succinic semialdehyde dehydrogenase (Q546H9_HUMAN)
- Succinic semialdehyde dehydrogenase (Q8N3W6_HUMAN)
- Succinate semialdehyde dehydrogenase (Q8N3W7_HUMAN)
- NAD(+)-dependent succinic semialdehyde dehydrogenase (SSDH_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P51649- Family:
-
- Belongs to the aldehyde dehydrogenase family.
Function for ALDH5A1 Gene
Molecular function for ALDH5A1 Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H2O + NAD(+) + succinate semialdehyde = 2 H(+) + NADH + succinate; Xref=Rhea:RHEA:13217, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30031, ChEBI:CHEBI:57540, ChEBI:CHEBI:57706, ChEBI:CHEBI:57945; EC=1.2.1.24;.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Redox-regulated. Inhibited under oxydizing conditions. Inhibited by hydrogen peroxide H(2)O(2).
- GENATLAS Biochemistry:
- NAD+ dependent succinic semialdehyde dehydrogenase,involved in the biosynthesis of gammahydroxybutyrate and in the detoxification of xenobiotic carbonyl compounds
Enzyme Numbers (IUBMB) for ALDH5A1 Gene
Phenotypes From GWAS Catalog for ALDH5A1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004777 | succinate-semialdehyde dehydrogenase (NAD+) activity | TAS | -- |
| GO:0009013 | succinate-semialdehyde dehydrogenase [NAD(P)+] activity | IBA | 21873635 |
| GO:0016491 | oxidoreductase activity | IEA | -- |
| GO:0016620 | oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor | IEA | -- |
| GO:0042802 | identical protein binding | IPI | 16199352 |
Phenotypes for ALDH5A1 Gene
- MGI mutant phenotypes for ALDH5A1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ALDH5A1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- shRNA abundance <= 50%
- Decreased viability of wild-type and TP53 knockout cells
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased S DNA content
- Increased viability with MLN4924 (a NAE inhibitor)
- Decreased POU5F1-GFP protein expression
- Downregulation of RLR pathway after Sendai virus (SeV) infection
- Increased epidermal growth factor (EGF) endocytosis, decreased endosome-nucleus distance (endosomes clustered in the perinuclear region)
Animal Models for ALDH5A1 Gene
- MGI Knock Outs for ALDH5A1:
-
- Aldh5a1 Aldh5a1<tm1Kmg>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ALDH5A1 - Select products 50% OFF >
- * ALDH5A1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ALDH5A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ALDH5A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ALDH5A1
miRNA for ALDH5A1 Gene
- miRTarBase miRNAs that target ALDH5A1
-
- hsa-miR-155-5p (MIRT020822)
- hsa-miR-215-5p (MIRT024624)
- hsa-miR-192-5p (MIRT026627)
- hsa-miR-24-3p (MIRT030518)
- hsa-miR-30c-5p (MIRT047973)
- hsa-miR-210-3p (MIRT054203)
- hsa-miR-147b (MIRT054214)
- hsa-miR-4279 (MIRT646558)
- hsa-miR-6783-3p (MIRT646559)
- hsa-miR-1343-3p (MIRT646560)
- hsa-miR-525-5p (MIRT646561)
- hsa-miR-520a-5p (MIRT646562)
- hsa-miR-23b-5p (MIRT646563)
- hsa-miR-23a-5p (MIRT646564)
- hsa-miR-1976 (MIRT646565)
- hsa-miR-3653-5p (MIRT646566)
- hsa-miR-6742-3p (MIRT646567)
- hsa-miR-6852-5p (MIRT646568)
- hsa-miR-939-3p (MIRT646569)
- hsa-miR-6727-3p (MIRT646570)
- hsa-miR-4722-3p (MIRT646571)
- hsa-miR-122-3p (MIRT646572)
- hsa-miR-365b-5p (MIRT680046)
- hsa-miR-365a-5p (MIRT680047)
- hsa-miR-8052 (MIRT680048)
- hsa-miR-3199 (MIRT680049)
- hsa-miR-6747-3p (MIRT680050)
- hsa-miR-561-5p (MIRT717841)
- hsa-miR-524-5p (MIRT717842)
- hsa-miR-520d-5p (MIRT717843)
- hsa-miR-4437 (MIRT717844)
- hsa-miR-6847-3p (MIRT717845)
- hsa-miR-6781-3p (MIRT717846)
- hsa-miR-2682-3p (MIRT717847)
- hsa-miR-1283 (MIRT717848)
- hsa-miR-877-3p (MIRT717849)
- hsa-miR-5088-5p (MIRT717850)
- hsa-miR-5581-5p (MIRT717851)
- hsa-miR-4297 (MIRT717852)
- hsa-miR-4252 (MIRT717853)
- hsa-miR-4520-5p (MIRT717854)
- hsa-miR-1273g-3p (MIRT717855)
- hsa-miR-29a-3p (MIRT732682)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ALDH5A1
- Browse OriGene Inhibitory RNA Products For ALDH5A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALDH5A1
Clone Products
- Applied Biological Materials (abm): Clones for ALDH5A1 - Select products 50% OFF >
- * ALDH5A1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ALDH5A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ALDH5A1
Cell Line Products
-
Horizon Cell Lines for ALDH5A1
No data available for Transcription Factor Targets and HOMER Transcription for ALDH5A1 Gene
Localization for ALDH5A1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ALDH5A1 Gene
- Mitochondrion.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| peroxisome | 2 |
| nucleus | 2 |
| cytosol | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Mitochondria (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | ISS | -- |
| GO:0005759 | mitochondrial matrix | TAS | -- |
Pathways & Interactions for ALDH5A1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Neurotransmitter Release Cycle | ||
| 2 | Transmission across Chemical Synapses |
.62
|
|
| 3 | Alanine, aspartate and glutamate metabolism | ||
| 4 | Butanoate metabolism | ||
| 5 | Metabolism | ||
Pathways by source for ALDH5A1 Gene
5 Reactome pathways for ALDH5A1 Gene
2 PharmGKB pathways for ALDH5A1 Gene
3 KEGG pathways for ALDH5A1 Gene
UniProtKB/Swiss-Prot P51649-SSDH_HUMAN
- Pathway: Amino-acid degradation; 4-aminobutanoate degradation.
Interacting Proteins for ALDH5A1 Gene
Selected Interacting proteins:
P51649-SSDH_HUMAN
ENSP00000314649
for ALDH5A1 Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for ALDH5A1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006105 | succinate metabolic process | IEA,ISS | -- |
| GO:0006536 | glutamate metabolic process | IEA,ISS | -- |
| GO:0007417 | central nervous system development | IMP | 9683595 |
| GO:0009448 | gamma-aminobutyric acid metabolic process | IEA | -- |
| GO:0009450 | gamma-aminobutyric acid catabolic process | IMP | 15037717 |
No data available for SIGNOR curated interactions for ALDH5A1 Gene
Drugs & Compounds for ALDH5A1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| NADH | Approved | Nutra | Target | 0 | ||
| Chlormerodrin | Approved, Withdrawn | Pharma | Target, inhibitor | 0 | ||
| Succinic acid | Approved | Nutra | Agonist, Full agonist, Target, inhibitor | 0 | ||
| Sodium oxybate | Approved | Pharma | Enzyme, substrate | 49 | ||
| Valproic acid | Approved, Investigational | Pharma | Target, inhibitor | HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors | 377 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Hydrogen Ion |
|
|
||||
| Succinic acid semialdehyde |
|
692-29-5 |
|
Transcripts for ALDH5A1 Gene
mRNA/cDNA for ALDH5A1 Gene
- 3 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000357578 5131 nts (view in UCSC)
- ENST00000491546 1699 nts (view in UCSC)
- ENST00000348925 2266 nts (view in UCSC)
- ENST00000672652 4883 nts (view in UCSC)
- ENST00000672352 4685 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ALDH5A1 - Select products 50% OFF >
- * ALDH5A1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ALDH5A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ALDH5A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ALDH5A1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ALDH5A1
- Browse OriGene Inhibitory RNA Products For ALDH5A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALDH5A1
Clone Products
- Applied Biological Materials (abm): Clones for ALDH5A1 - Select products 50% OFF >
- * ALDH5A1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ALDH5A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ALDH5A1
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||
| SP3: |
Relevant External Links for ALDH5A1 Gene
- GeneLoc Exon Structure for
- ALDH5A1
Expression for ALDH5A1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
- Thyroid (Endocrine System)
- Intestine (Gastrointestinal Tract)
- Ovary (Reproductive System)
- Eye (Sensory Organs)
This gene is overexpressed in Liver (12.3) and Frontal cortex (7.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALDH5A1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ALDH5A1
SOURCE GeneReport for Unigene cluster for ALDH5A1 Gene:
Hs.371723mRNA Expression by UniProt/SwissProt for ALDH5A1 Gene:
P51649-SSDH_HUMAN
Tissue specificity:
Brain, pancreas, heart, liver, skeletal muscle and kidney. Lower in placenta.
Evidence on tissue expression from TISSUES for ALDH5A1 Gene
- Nervous system(4.8)
- Liver(4.6)
- Blood(4.4)
- Kidney(2.6)
- Heart(2.6)
- Muscle(2.3)
- Skin(2.2)
- Eye(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ALDH5A1 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
Regions:
Head and neck:
- brain
- eye
- head
General:
- peripheral nerve
- peripheral nervous system
Primer Products
-
OriGene qPCR primer pairs for ALDH5A1
-
OriGene qPCR primer pairs and template standards for ALDH5A1
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues for ALDH5A1 Gene
Orthologs for ALDH5A1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ALDH5A1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ALDH5A1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ALDH5A1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Aldh5a1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Aldh5a1 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | ALDH5A1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ALDH5A1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ALDH5A1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | aldh5a1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | aldh5a1 30 31 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003165 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Ssadh 30 31 |
|
OneToOne | |
| CG4685 32 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | alh-7 30 31 |
|
OneToOne | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E17491g 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | UGA2 30 31 33 |
|
OneToOne | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AER007W 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ALDH5F1 30 |
|
||
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.3967 30 |
|
||
| Barley (Hordeum vulgare) |
Liliopsida | Hv.5500 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os.9838 30 |
|
||
| Wheat (Triticum aestivum) |
Liliopsida | Ta.5774 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU00936 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC1002.12c 30 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.6288 30 |
|
- Species where no ortholog for ALDH5A1 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Platypus (Ornithorhynchus anatinus)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
Evolution for ALDH5A1 Gene
- ENSEMBL:
- Gene Tree for ALDH5A1 (if available)
- TreeFam:
- Gene Tree for ALDH5A1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ALDH5A1: view image
Paralogs for ALDH5A1 Gene
Paralogs for ALDH5A1 Gene
(11) SIMAP similar genes for ALDH5A1 Gene using alignment to 4 proteins:
- SSDH_HUMAN
- C9J8Q5_HUMAN
- F5H328_HUMAN
- Q8N3W7_HUMAN
Variants for ALDH5A1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALDH5A1 Gene
| SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1360 | Pathogenic: Succinate-semialdehyde dehydrogenase deficiency | 24,521,263(+) | CCTTCACAGTTATCAG | SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT | |
| 640247 | Uncertain Significance: Succinate-semialdehyde dehydrogenase deficiency | 24,495,287(+) | G/C | MISSENSE_VARIANT | |
| 642367 | Uncertain Significance: Succinate-semialdehyde dehydrogenase deficiency | 24,533,711(+) | A/T | STOP_LOST | |
| 644718 | Uncertain Significance: Succinate-semialdehyde dehydrogenase deficiency | 24,495,334(+) | G/A | MISSENSE_VARIANT | |
| 650075 | Uncertain Significance: Succinate-semialdehyde dehydrogenase deficiency | 24,495,321(+) | T/C | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2648573 | CNV | deletion | 19546169 |
| esv2763542 | CNV | gain | 21179565 |
| esv34020 | CNV | loss | 18971310 |
| nsv1109765 | CNV | deletion | 24896259 |
| nsv519552 | CNV | gain | 19592680 |
| nsv965688 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
72.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
7.79;
83.35% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ALDH5A1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALDH5A1 Gene
Disorders for ALDH5A1 Gene
(18) MalaCards diseases for ALDH5A1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| succinic semialdehyde dehydrogenase deficiency |
|
|
| gamma-amino butyric acid metabolism disorder |
|
|
| canavan disease |
|
|
| juvenile absence epilepsy |
|
|
| gaba-transaminase deficiency |
|
|
Search ALDH5A1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SSDH_HUMAN- 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. {ECO:0000269 PubMed:11243727, ECO:0000269 PubMed:11901270, ECO:0000269 PubMed:14635103}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genatlas disease for ALDH5A1 Gene
4-hydroxybutyric aciduria characterized by psychomotor retardation,ataxia,hypotonia
Additional Disease Information for ALDH5A1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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Publications for ALDH5A1 Gene
- Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression. (PMID: 7814412) Chambliss KL … Gibson KM (The Journal of biological chemistry 1995) 2 3 4 23
- Redox-switch modulation of human SSADH by dynamic catalytic loop. (PMID: 19300440) Kim YG … Kim KJ (The EMBO journal 2009) 3 4 23
- Cognitive functioning and survival in the elderly: the SSADH C538T polymorphism. (PMID: 18505418) De Rango F … De Benedictis G (Annals of human genetics 2008) 3 23 41
- Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity. (PMID: 16406321) Lorenz S … Sander T (Neuroscience letters 2006) 3 23 41
- An association study between polymorphisms in five genes in glutamate and GABA pathway and paranoid schizophrenia. (PMID: 15642443) Zhang B … Shen Y (European psychiatry : the journal of the Association of European Psychiatrists 2005) 3 23 41
ExternalLinks
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Sources for ALDH5A1 Gene
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