Human cDNA
| Basic Informations | Advanced Informations |
| Clone information |
Clone ID | hMU000446 |
| Korean Unigene Clone | IRAT-05-F02 | |
| Original Clone | IRAK-12-D13 | |
| Vector | pCMV-SPORT6 | |
| Gene | ABAT | |
| Gene Description | 4-aminobutyrate aminotransferase | |
| Clone sequence size | 1281 (bp) | |
| Fullness | P | |
| Mutation | - | |
| Amino acid - mutation | - | |
| Price | \33,000 (부가세 포함가) |
| Clone information |
5' end sequenced Length | 1281 |
| Sequence | CTGGAAACAACAGACTCTTAAACTAACAATTCAAGCAGGCGCCAA GTGCTACGACAGAGGTGTGAATAAAAGCATCAGGAAATCGGATGG AGAACCACCATTCACCCAAGGGTCAGAGGAGGTTTCAAAGAAAAG GTGTCATTGGAGCAGTGTTTTGCAGAATGAGCCAGAGTTCACCAA GCAGGCAAGGCAAGGAAGGGTGTTGCAGAGAGGGAACAGCATATG CAAAGGCATATCAGTTCATGGCATCACATCTTTCACTGGGGAAGC CAGTTTCCACAGGCAGCATCCCAAGGTTCAATAAGGCCTTATTTA ACAAGCAAGCAAAATGCAAACCAAACCATTATTCATTTATTGGCT TAAGTATGCTTTCTCCTGAAAACTTTAGCATTGGGTGCAAATATT CAGTATGGTTCTCGGAGACCAAAGGGTTTTAAGCCAGGGCACAAC CAGAAAAGTGGCTCTCTTTGGTAGGGAGAGGGGCTCCAATATTTC GTTCTCTCCCCATGGGGCACTGACAGAGAAATGAAATAGTTTTAT CTGGAAAATTCCAGAGCTATTATTTACTCCTTACCAAGGGAAGTT ACTTCTTGTAAAAACTTTTAAGCCATTTATCAACAAGTTCTTGTT GACTCAGGGCATAATGAGTTCCTGAGACATGCTTTTTTGGGGGCT GGGGCTTTAGGTAGAAGAATTTCAAGGAAAAGAATTCTCAGCAGA GCTCAAGATTGTAGAAACTCAGCAGAAGCTGGTAAAAACATGGGG AGCCCGGAGGACAGGCTGCTGTCCAGGGCAGAGGCCATGAAGAAG TGCTTCCGTGGCCGACAGTCTGGAAATGAATCCATCATACATTAG TGCCATAGAGTTTAGTAACCGTCCAGCAAGTGTCATCACTTTTAC AGAAAACAAGGTCCAGTAATAGCAAGTCTTAGTACATCCTCACTT TTATTATAAATGGGTGTTTTTTCATAATTTTTACTGACGCTCAGT AACCATGCAAAATTGTGTATAGCATTAATGTATCTACATACCTAC ACCTATCTATATATAAGCTCATGGTAGAAAACCATAGCTAAGTAG CATCGCAGACTTAAGCGTACAAAGTGATCTTGTTCACAAGTAATC TGTTGACAGTGCCAATAAATGATAAAAAAAAAATTAACATGTCAC AATGTAACGGATGACCATATGCACAATTCCATGAATTAAATCTGT TTCCTGTGTTAGTCAGTATTCTTAAATAAAATTTATAATTGAAAC ATGAAAAAAAAAAAAAAAAAA |
| vector name | |
| vector source | |
| enzyme site(DNA insert) | |
| sequencing primer | |
| vector sequence | |
| Gene Location | Chromosome | 16 | |||||||||||
| Location | 16p13.2 | ||||||||||||
| Strand |
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| Database links | RefSeq | NM_001127448 | |||||||||||
| KEGG Genes | 18 | ||||||||||||
| GeneCard | ABAT |
| sequence | sequence of CDS | ATGGCCTCCATGTTGCTCGCCCAGCGCCTGGCCTGCAGCTTCCAGCACAGCTACCGCCTGCTGGTGCCTGGATCCAGACACATTAGTCAAGCTGCAGCCAAAGTCGACGTTGAATTTGATTATGATGGGCCTCTGATGAAGACGGAAGTCCCAGGGCCTAGATCTCAGGAGTTAATGAAACAGCTGAATATAATTCAGAATGCAGAGGCTGTGCATTTTTTCTGCAATTACGAAGAGAGCCGAGGCAATTACCTGGTTGATGTGGACGGCAACCGAATGCTGGATCTTTATTCCCAGATCTCCTCTGTCCCCATAGGTTACAGCCACCCCGCCCTGCTGAAACTCATCCAACAGCCTCAAAATGCGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGGCTCCCAAAGGGATGTCCCAGCTCATCACCATGGCCTGCGGCTCCTGCTCCAATGAAAACGCCTTAAAGACCATCTTCATGTGGTACCGGAGCAAGGAAAGAGGGCAGAGGGGCTTCTCCCAGGAGGAGCTGGAGACGTGCATGATTAACCAGGCCCCTGGCTGCCCCGACTACAGCATCCTCTCCTTCATGGGCGCGTTCCATGGGAGGACCATGGGTTGCTTAGCGACCACGCACTCTAAAGCCATTCACAAGATCGACATCCCTTCCTTTGACTGGCCCATCGCACCGTTCCCACGGCTGAAATACCCTCTGGAAGAGTTTGTGAAAGAGAACCAACAGGAGGAGGCCCGCTGTCTGGAAGAGGTGGAGGATCTGATTGTGAAATATCGGAAAAAGAAGAAGACGGTGGCCGGGATCATCGTGGAGCCCATCCAGTCCGAGGGTGGAGACAACCACGCATCCGATGACTTCTTTCGGAAGCTGAGAGACATCGCCAGGAAGCATGGCTGCGCCTTCTTGGTGGACGAGGTCCAGACCGGAGGAGGCTGCACGGGCAAGTTCTGGGCCCATGAGCACTGGGGCCTGGATGACCCAGCAGACGTGATGACCTTCAGCAAGAAGATGATGACTGGGGGCTTCTTCCACAAGGAGGAGTTCAGGCCTAATGCTCCCTACCGGATCTTCAACACCTGGCTGGGGGACCCGTCCAAGAACCTGTTGCTGGCTGAGGTCATCAACATCATCAAGCGGGAGGACCTGCTAAATAATGCAGCCCATGCCGGGAAGGCCCTGCTCACAGGACTGCTGGACCTCCAGGCCCGGTACCCCCAGTTCATCAGCAGGGTGAGAGGACGAGGCACCTTTTGCTCCTTCGATACTCCCGATGATTCCATACGGAATAAGCTCATTTTAATTGCCAGAAACAAAGGTGTGGTGTTGGGTGGCTGTGGTGACAAATCCATTCGTTTCCGTCCCACGCTGGTCTTCAGGGATCACCACGCTCACCTGTTCCTCAATATTTTCAGTGACATCTTAGCAGACTTCAAGTAA |
| sequence of protein | MASMLLAQRLACSFQHSYRLLVPGSRHISQAAAKVDVEFDYDGPLMKTEVPGPRSQELMKQLNIIQNAEAVHFFCNYEESRGNYLVDVDGNRMLDLYSQISSVPIGYSHPALLKLIQQPQNASMFVNRPALGILPPENFVEKLRQSLLSVAPKGMSQLITMACGSCSNENALKTIFMWYRSKERGQRGFSQEELETCMINQAPGCPDYSILSFMGAFHGRTMGCLATTHSKAIHKIDIPSFDWPIAPFPRLKYPLEEFVKENQQEEARCLEEVEDLIVKYRKKKKTVAGIIVEPIQSEGGDNHASDDFFRKLRDIARKHGCAFLVDEVQTGGGCTGKFWAHEHWGLDDPADVMTFSKKMMTGGFFHKEEFRPNAPYRIFNTWLGDPSKNLLLAEVINIIKREDLLNNAAHAGKALLTGLLDLQARYPQFISRVRGRGTFCSFDTPDDSIRNKLILIARNKGVVLGGCGDKSIRFRPTLVFRDHHAHLFLNIFSDILADFK | |
| Database link | RefSeq | NM_001127448 |
| UniProt | ||
| CCDS |
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Gene Ontology Provided by GOA (www.ebi.ac.uk/GOA)
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| Disease | 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. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008] |
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