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| Ultimate™ ORFCard for Clone ID IOH3283 | |
|---|---|
| Gene Information | |
| Clone ID: | IOH3283 |
| Organism: | Homo sapiens |
| Matching Nucleotide Accession: | BC008990.1|Alignment |
| Category: | 18 |
| Comment: | HS.336768 |
| Related Accession(s): | AF237813|Alignment || AK096146|Alignment || AL137454|Alignment || BC008990|Alignment || BC013965|Alignment || BC015628|Alignment || BC031413|Alignment || BG749438|Alignment || BG818982|Alignment || BI459888|Alignment || BI602086|Alignment || BX537362|Alignment || L32961|Alignment || S75578|Alignment || U80226|Alignment |
| Gene Name: | 4-aminobutyrate aminotransferase |
| Gene Definition: | Homo sapiens, 4-aminobutyrate aminotransferase, mRNA (cDNA clone IMAGE:4156159), complete cds. |
| Gene Symbol: | ABAT |
| Summary: | 4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Two alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. |
| Expression: | Sage Tag Expression || Virtual Northern || Digital Expression Profile |
| Transcript Variant 1: | This variant (1) is the longer transcript. |
| Transcript Variant 2: | This variant (2) has an alternate 5' UTR, as compared to variant 1. |
| mRNA Record: | NM_000663|Alignment || NM_020686|Alignment |
| GO Category: biological process | gamma-aminobutyric acid metabolism (GO:0009448) neurotransmitter catabolism (GO:0042135) synaptic transmission (GO:0007268) |
| GO Category: cellular component | mitochondrial matrix (GO:0005759) |
| GO Category: molecular function | (S)-3-amino-2-methylpropionate transaminase activity (GO:0047298) 4-aminobutyrate transaminase activity (GO:0003867) pyridoxal phosphate binding (GO:0030170) transferase activity (GO:0016740) |
| References: | GRIF: 18 | PUBMED: ABAT |
| ORF Information | |
| ORF length (bp): | 351 |
| Sequence: | Nucleotide || Peptide || Translation || Quality Scores || Quality Scores with Sequence |
| Clone Information | |
| Collection Name: | Ultimate ORF Clones |
| Collection Type: | ORF Gateway™ Entry |
| Vector Name: | pENTR(tm)221 |
| Vector Antibiotic: | Kanamycin |
| Host Name: | E.coli |
| Protein | |
| Protein Accession: | AAG09758|Alignment || AAH08990|Alignment || AAH15628|Alignment || AAH31413|Alignment || AAA74449|Alignment || AAD14176|Alignment || AAB38510|Alignment || P80404|Alignment |
| Protein Record: | NP_000654|Alignment || NP_065737|Alignment |
| Physical Properties: | (aa) || 0.0 (MW) || 0.0 (pI) |
| Protease Digestion: | Trypsin | Lys-C | Arg-C | Asp-N | V8-bicarb | V8-phosph | Chymotrypsin | CNBr |
| Predicted Secondary Structure: | View Secondary Structure |
| Protein Model Search: | Swiss-Model BLAST |
| OMIM: | 137150 |
| Product: | 4-aminobutyrate aminotransferase precursor |
| Human Proto Array: | ProtoArray Human Protein Microarray nc v1.0 |
| KEGG Pathway: | Butanoate metabolism |
| KEGG Pathway: | Glutamate metabolism |
| KEGG Pathway: | Propanoate metabolism |
| KEGG Pathway: | beta-Alanine metabolism |
| KEGG Pathway: | Alanine and aspartate metabolism |
| SNP Information | |
| SNP: | All rs in gene region | rs in coding region only | rs with heterozygosity only |
| SNP Map to: | Protein |
| Genomic Link | |
| LocusLink ID: | 18 |
| Unigene ID: | Hs.336768 |
| Genome Alignment: | Map to Human Genome using BLAT || Map to Ensembl Genome Browser |
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Disclaimer: Invitrogen™ Corporation provides an evolving clone collection where each gene represented is identified as containing a complete open reading frame, based on a dynamic source of bioinformatic information contained within GenBank. GenBank is a genetic sequence database, which contains an annotated collection of all publicly available DNA sequences. Ultimate™ ORF Clones are typically derived from cDNA clones believed to contain a complete open reading frame, according to the most current GenBank update. Please note, subsequent GenBank updates may show some of these cDNA clones to contain a partial sequence, a non-coding sequence or other artifacts. Quarterly, Invitrogen™ Corporation will update the Ultimate™ ORF Clone Collection, by adding, deleting, or modifying the bioinformatic information to more accurately reflect the most current scientific information associated with each of the clones represented in the collection. It is highly recommended that the purchaser carefully evaluate the ORF clone sequence prior to purchase. It is the purchaser’s responsibility to check whether the sequence associated with any particular clone meets his/her scientific requirement prior to purchase. Invitrogen makes no warranties, express or implied, that the manufacture, use, importation, or sale of the gene contained within any Ultimate™ ORF clone will not infringe any third party intellectual property right. | |