ALDH5A1 cDNA ORF clone, Homo sapiens(human)
| Gene Symbol | ALDH5A1 |
| Entrez Gene ID | 7915 |
| Full Name | aldehyde dehydrogenase 5 family member A1 |
| Synonyms | SSADH,SSDH |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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]. |
| Disorder MIM: | |
| Disorder Html: | Succinic semialdehyde dehydrogenase deficiency, 271980 (3) |
mRNA and Protein(s)
| mRNA | Protein | Name |
|---|---|---|
| NM_170740.1 | NP_733936.1 | succinate-semialdehyde dehydrogenase, mitochondrial isoform 1 precursor |
| NM_001368954.1 | NP_001355883.1 | succinate-semialdehyde dehydrogenase, mitochondrial isoform 3 |
| NM_001080.3 | NP_001071.1 | succinate-semialdehyde dehydrogenase, mitochondrial isoform 2 precursor |
| Homo sapiens (human) | ALDH5A1 | NP_001071.1 |
| ALDH5A1 | XP_001101142.1 | |
| Bos taurus (cattle) | ALDH5A1 | NP_001179664.1 |
| Mus musculus (house mouse) | Aldh5a1 | NP_766120.1 |
| Drosophila melanogaster (fruit fly) | Ssadh | NP_001014665.1 |
| Magnaporthe oryzae (rice blast fungus) | MGG_01230 | XP_003714132.1 |
| Canis lupus familiaris (dog) | ALDH5A1 | XP_005640135.1 |
| Rattus norvegicus (Norway rat) | Aldh5a1 | NP_074042.1 |
| Gallus gallus (chicken) | ALDH5A1 | XP_418909.3 |
| Caenorhabditis elegans (roundworm) | alh-7 | NP_001254393.1 |
| Saccharomyces cerevisiae (baker's yeast) | UGA2 | NP_009560.1 |
| Kluyveromyces lactis | KLLA0E17491g | XP_454738.1 |
| Eremothecium gossypii | AGOS_AER007W | NP_984867.1 |
| Neurospora crassa | NCU00936 | XP_964762.2 |
| Danio rerio (zebrafish) | aldh5a1 | NP_001103938.2 |
| Schizosaccharomyces pombe (fission yeast) | SPAC1002.12c | NP_593499.2 |
| Xenopus tropicalis (tropical clawed frog) | aldh5a1 | NP_001135578.1 |
| Pan troglodytes (chimpanzee) | ALDH5A1 | NP_001008991.1 |
| Anopheles gambiae (African malaria mosquito) | AgaP_AGAP003165 | XP_312856.4 |
| Arabidopsis thaliana (thale cress) | ALDH5F1 | NP_178062.1 |
Related articles in PubMed
SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site.
Leo S, Capo C, Ciminelli BM, Iacovelli F, Menduti G, Funghini S, Donati MA, Falconi M, Rossi L, Malaspina P
Metabolic brain disease32(5)1383-1388(2017 Oct)
Decreased expression of ALDH5A1 predicts prognosis in patients with ovarian cancer.
Tian X, Han Y, Yu L, Luo B, Hu Z, Li X, Yang Z, Wang X, Huang W, Wang H, Zhang Q, Ma D
Cancer biology & therapy18(4)245-251(2017 Apr)
[Identification of ALDH5A1 gene mutations in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency].
Shu J, Cai F, Fan W, Meng Y, Zhang C, Cai C, Zhang Y, Lin S
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics34(1)6-9(2017 Feb)
GeneRIFs: Gene References Into Functions What's a GeneRIF?
The proband was found to have compound heterozygous mutations of the succinate-semialdehyde dehydrogenase (ALDH5A1) gene, namely c.398_399delAA (p.N134X) and c.638G>T (p.R213L), for which her parents were both heterozygous carriers.
Title: [Identification of ALDH5A1 gene mutations in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency].
Two novel ALDH5A1 mutations likely responsible for SSADH deficiency were identified, and DNA sequencing provided an accurate diagnosis for an at-risk fetus whose sibling had SSADH deficiency. Current study and literature review identified nine additional novel mutations in eight unrelated families bringing the number of unique mutations of ALDH5A1 resulting in SSADH deficiency to 44, occurring from exon 1 to exon 10.
Title: Mutation analysis and prenatal diagnosis in a Chinese family with succinic semialdehyde dehydrogenase and a systematic review of the literature of reported ALDH5A1 mutations.
SSADH catalytic loop role in the SSADH redox-switch modulation
Title: Modeling conformational redox-switch modulation of human succinic semialdehyde dehydrogenase.
Pearl et al. identify 3 new pathogenic mutations in the ALDH5A1 gene previously unreported in the literature. EXON: 1 Nucleotide change: c.412 C>T Change in protein: p.L138F EXON: 4 Nucleotide change: c.754G>T Change in protein: p.Q252X EXON: 8 Nucleotide change: c.1360G>A Change in protein: p.A454T
Title: Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification.
The strongest association signal arose from an intronic region of the gene ALDH5A1, which encodes the mitochondrial enzyme succinic semialdehyde dehydrogenase (SSADH), an enzyme involved in gamma-aminobutyric acid metabolism.
Title: Suggestive association with ocular phoria at chromosome 6p22.
The following ALDH5A1 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the ALDH5A1 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.
| CloneID | OHu17139 |
|
| Clone ID Related Accession (Same CDS sequence) | NM_001080.3 | |
| Accession Version | NM_001080.3 Latest version! | Documents for ORF clone product in default vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 1608bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector |  User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
| ORF Insert Method | CloneEZ™ Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2019-10-07 | |
| Organism | Homo sapiens(human) | |
| Product | succinate-semialdehyde dehydrogenase, mitochondrial isoform 2 precursor | |
| Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL031230.1. On Nov 27, 2002 this sequence version replaced NM_001080.2. Transcript Variant: This variant (2) lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter isoform (2), that is missing an internal segment compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AJ427355.2, SRR1803615.223234.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000357578.8/ ENSP00000350191.3 RefSeq Select criteria :: based on manual assertion, conservation, expression ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. | |
1 | ATGGCGACCT GCATTTGGCT GCGGAGCTGT GGGGCCCGGC GCCTCGGGTC GACGTTTCCA |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_001071.1 |
| CDS | 29..1636 |
| Translation |
Target ORF information:
Target ORF information:
|
 NM_001080.3 |
ORF Insert Sequence:
1 | ATGGCGACCT GCATTTGGCT GCGGAGCTGT GGGGCCCGGC GCCTCGGGTC GACGTTTCCA |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| CloneID | OHu107987 | |
| Clone ID Related Accession (Same CDS sequence) | NM_001368954.1 | |
| Accession Version | NM_001368954.1 Latest version! | Documents for ORF clone product in default vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 1464bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector | User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
| ORF Insert Method | CloneEZ™ Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2019-10-07 | |
| Organism | Homo sapiens(human) | |
| Product | succinate-semialdehyde dehydrogenase, mitochondrial isoform 3 | |
| Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL031230.1. Transcript Variant: This variant (3) lacks two consecutive, in-frame, alternate exons, compared to variant 1. It encodes isoform 3, which is shorter than isoform 1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## | |
1 | ATGGCGACCT GCATTTGGCT GCGGAGCTGT GGGGCCCGGC GCCTCGGGTC GACGTTTCCA |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_001355883.1 |
| CDS | 29..1492 |
| Translation |
Target ORF information:
Target ORF information:
|
NM_001368954.1 |
ORF Insert Sequence:
1 | ATGGCGACCT GCATTTGGCT GCGGAGCTGT GGGGCCCGGC GCCTCGGGTC GACGTTTCCA |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| CloneID | OHu17871 | |
| Clone ID Related Accession (Same CDS sequence) | NM_170740.1 | |
| Accession Version | NM_170740.1 Latest version! | Documents for ORF clone product in default vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 1647bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector | User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
| ORF Insert Method | CloneEZ™ Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2019-10-07 | |
| Organism | Homo sapiens(human) | |
| Product | succinate-semialdehyde dehydrogenase, mitochondrial isoform 1 precursor | |
| Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL031230.1. Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AJ427354.2, KJ534769.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. | |
1 | ATGGCGACCT GCATTTGGCT GCGGAGCTGT GGGGCCCGGC GCCTCGGGTC GACGTTTCCA |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_733936.1 |
| CDS | 29..1675 |
| Translation |
Target ORF information:
Target ORF information:
|
NM_170740.1 |
ORF Insert Sequence:
1 | ATGGCGACCT GCATTTGGCT GCGGAGCTGT GGGGCCCGGC GCCTCGGGTC GACGTTTCCA |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
 |
SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site. |
|
Decreased expression of ALDH5A1 predicts prognosis in patients with ovarian cancer. |
|
[Identification of ALDH5A1 gene mutations in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency]. |