Human Gene AMT (ENST00000273588.9) from GENCODE V44
Description: Homo sapiens aminomethyltransferase (AMT), transcript variant 5, non-coding RNA. (from RefSeq NR_028435) RefSeq Summary (NM_000481): This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]. Gencode Transcript: ENST00000273588.9 Gencode Gene: ENSG00000145020.16 Transcript (Including UTRs) Position: hg38 chr3:49,416,778-49,422,473 Size: 5,696 Total Exon Count: 9 Strand: - Coding Region Position: hg38 chr3:49,417,540-49,422,450 Size: 4,911 Coding Exon Count: 9
ID:GCST_HUMAN DESCRIPTION: RecName: Full=Aminomethyltransferase, mitochondrial; EC=2.1.2.10; AltName: Full=Glycine cleavage system T protein; Short=GCVT; Flags: Precursor; FUNCTION: The glycine cleavage system catalyzes the degradation of glycine. CATALYTIC ACTIVITY: [Protein]-S(8)-aminomethyldihydrolipoyllysine + tetrahydrofolate = [protein]-dihydrolipoyllysine + 5,10- methylenetetrahydrofolate + NH(3). SUBUNIT: The glycine cleavage system is composed of four proteins: P, T, L and H. SUBCELLULAR LOCATION: Mitochondrion. DISEASE: Defects in AMT are a cause of non-ketotic hyperglycinemia (NKH) [MIM:605899]; also known as glycine encephalopathy (GCE). NKH is an autosomal recessive disease characterized by accumulation of a large amount of glycine in body fluid and by severe neurological symptoms. SIMILARITY: Belongs to the GcvT family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AMT";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P48728
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BC044792 - Homo sapiens aminomethyltransferase, mRNA (cDNA clone MGC:42387 IMAGE:4821331), complete cds. BC007546 - Homo sapiens aminomethyltransferase, mRNA (cDNA clone IMAGE:2959737), partial cds. AK091738 - Homo sapiens cDNA FLJ34419 fis, clone HEART2008257, highly similar to Aminomethyltransferase, mitochondrial precursor (EC 2.1.2.10). AX747153 - Sequence 678 from Patent EP1308459. AK296177 - Homo sapiens cDNA FLJ55081 complete cds, highly similar to Aminomethyltransferase, mitochondrial precursor (EC 2.1.2.10). AK096062 - Homo sapiens cDNA FLJ38743 fis, clone KIDNE2012025, highly similar to Aminomethyltransferase, mitochondrial precursor (EC 2.1.2.10). D13811 - Homo sapiens mRNA for glycine cleavage system T-protein, complete cds. BC094771 - Homo sapiens cDNA clone IMAGE:5310714, containing frame-shift errors. JD239886 - Sequence 220910 from Patent EP1572962. JD200933 - Sequence 181957 from Patent EP1572962. JD232113 - Sequence 213137 from Patent EP1572962. JD538786 - Sequence 519810 from Patent EP1572962. JD537497 - Sequence 518521 from Patent EP1572962. JD079187 - Sequence 60211 from Patent EP1572962. JD240025 - Sequence 221049 from Patent EP1572962. JD073268 - Sequence 54292 from Patent EP1572962. JD238747 - Sequence 219771 from Patent EP1572962. JD267453 - Sequence 248477 from Patent EP1572962. JD470609 - Sequence 451633 from Patent EP1572962. JD117878 - Sequence 98902 from Patent EP1572962. KJ901282 - Synthetic construct Homo sapiens clone ccsbBroadEn_10676 AMT gene, encodes complete protein. KR710103 - Synthetic construct Homo sapiens clone CCSBHm_00009645 AMT (AMT) mRNA, encodes complete protein. KR710104 - Synthetic construct Homo sapiens clone CCSBHm_00009648 AMT (AMT) mRNA, encodes complete protein. KR710105 - Synthetic construct Homo sapiens clone CCSBHm_00009650 AMT (AMT) mRNA, encodes complete protein. KR710106 - Synthetic construct Homo sapiens clone CCSBHm_00009653 AMT (AMT) mRNA, encodes complete protein. JD289522 - Sequence 270546 from Patent EP1572962. JD199422 - Sequence 180446 from Patent EP1572962. LF208627 - JP 2014500723-A/16130: Polycomb-Associated Non-Coding RNAs. MA444204 - JP 2018138019-A/16130: Polycomb-Associated Non-Coding RNAs. JD078079 - Sequence 59103 from Patent EP1572962. JD131344 - Sequence 112368 from Patent EP1572962. AK293481 - Homo sapiens cDNA FLJ59845 complete cds, highly similar to Aminomethyltransferase, mitochondrial precursor (EC 2.1.2.10). AK293594 - Homo sapiens cDNA FLJ59850 complete cds, moderately similar to Aminomethyltransferase, mitochondrial precursor (EC 2.1.2.10). AK294592 - Homo sapiens cDNA FLJ59878 complete cds, highly similar to Aminomethyltransferase, mitochondrial precursor (EC 2.1.2.10). AK290600 - Homo sapiens cDNA FLJ76259 complete cds, highly similar to Homo sapiens aminomethyltransferase (glycine cleavage system protein T) (AMT), mRNA. CU675697 - Synthetic construct Homo sapiens gateway clone IMAGE:100023336 5' read AMT mRNA. AK301072 - Homo sapiens cDNA FLJ60001 complete cds, highly similar to Aminomethyltransferase, mitochondrial precursor (EC 2.1.2.10). AK311636 - Homo sapiens cDNA, FLJ18678. JD325503 - Sequence 306527 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa00260 - Glycine, serine and threonine metabolism hsa00670 - One carbon pool by folate hsa00910 - Nitrogen metabolism hsa01100 - Metabolic pathways