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AMT aminomethyltransferase [ Homo sapiens (human) ]

Gene ID: 275, updated on 24-Jun-2014
Official Symbol
AMTprovided by HGNC
Official Full Name
aminomethyltransferaseprovided by HGNC
Primary source
HGNC:473
See related
Ensembl:ENSG00000145020; HPRD:01997; MIM:238310; Vega:OTTHUMG00000156847
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GCE; NKH; GCST; GCVT
Summary
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]
Location:
3p21.2-p21.1
Exon count :
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 3 NC_000003.12 (49416778..49422678, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49454211..49460111, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ras homolog family member A Neighboring gene T-cell leukemia translocation altered Neighboring gene nicolin 1 Neighboring gene dystroglycan 1 (dystrophin-associated glycoprotein 1) Neighboring gene BSN antisense RNA 2 (head to head)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Replication interactions

Interaction Pubs
Knockdown of aminomethyltransferase (AMT) by siRNA enhances HIV-1 replication in CD4+/CCR5+/CXCR4+ TZM-bl HeLa cells PubMed

Go to the HIV-1, Human Protein Interaction Database

  • Carbon metabolism, organism-specific biosystem (from KEGG)
    Carbon metabolism, organism-specific biosystemCarbon metabolism is the most basic aspect of life. This map presents an overall view of central carbon metabolism, where the number of carbons is shown for each compound denoted by a circle, excludi...
  • Carbon metabolism, conserved biosystem (from KEGG)
    Carbon metabolism, conserved biosystemCarbon metabolism is the most basic aspect of life. This map presents an overall view of central carbon metabolism, where the number of carbons is shown for each compound denoted by a circle, excludi...
  • Glycine, serine and threonine metabolism, organism-specific biosystem (from KEGG)
    Glycine, serine and threonine metabolism, organism-specific biosystemSerine is derived from 3-phospho-D-glycerate, an intermediate of glycolysis [MD:M00020], and glycine is derived from serine. Threonine is an essential amino acid, which animals cannot synthesize. In ...
  • Glycine, serine and threonine metabolism, conserved biosystem (from KEGG)
    Glycine, serine and threonine metabolism, conserved biosystemSerine is derived from 3-phospho-D-glycerate, an intermediate of glycolysis [MD:M00020], and glycine is derived from serine. Threonine is an essential amino acid, which animals cannot synthesize. In ...
  • One Carbon Metabolism, organism-specific biosystem (from WikiPathways)
    One Carbon Metabolism, organism-specific biosystemThis one-carbon metabolism pathway is centered around folate. Folate has two key carbon-carbon double bonds. Saturating one of them yields dihydrofolate (DHF) and adding an additional molecule of hyd...
  • One carbon pool by folate, organism-specific biosystem (from KEGG)
    One carbon pool by folate, organism-specific biosystem
    One carbon pool by folate
  • One carbon pool by folate, conserved biosystem (from KEGG)
    One carbon pool by folate, conserved biosystem
    One carbon pool by folate
  • Trans-sulfuration and one carbon metabolism, organism-specific biosystem (from WikiPathways)
    Trans-sulfuration and one carbon metabolism, organism-specific biosystem
    Trans-sulfuration and one carbon metabolism
  • glycine biosynthesis II, conserved biosystem (from BIOCYC)
    glycine biosynthesis II, conserved biosystemIn eukaryotes glycine can be biosynthesized by the reverse reactions of the mitochondrial |FRAME: CPLX-7302| (for glycine cleavage pathway detail see MetaCyc pathway |FRAME: GLYCLEAV-PWY|). Glycine ...
  • glycine cleavage, organism-specific biosystem (from BIOCYC)
    glycine cleavage, organism-specific biosystemIn eukaryotes the mitochondrial glycine cleavage complex (glycine decarboxylase complex) is a loosely-associated multienzyme complex that catalyzes the oxidative cleavage of glycine to carbon dioxid...
  • glycine cleavage, conserved biosystem (from BIOCYC)
    glycine cleavage, conserved biosystemGeneral Background 2-oxo acid dehydrogenase complexes convert 2-oxo acids to the corresponding acyl-CoA derivatives and produce NADH and |FRAME: CARBON-DIOXIDE| in an irreversible reaction. Five mem...

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aminomethyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
transaminase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
glycine catabolic process IEA
Inferred from Electronic Annotation
more info
 
methylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
aminomethyltransferase, mitochondrial
Names
aminomethyltransferase, mitochondrial
glycine cleavage system T protein
NP_000472.2
NP_001158182.1
NP_001158183.1
NP_001158184.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_015986.1 

    Range
    5001..10901
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_537

mRNA and Protein(s)

  1. NM_000481.3NP_000472.2  aminomethyltransferase, mitochondrial isoform 1 precursor

    See proteins identical to NP_000472.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
    Source sequence(s)
    D13811, DC387800, GD148179
    Consensus CDS
    CCDS2797.1
    UniProtKB/Swiss-Prot
    P48728
    Related
    ENSP00000273588, OTTHUMP00000210791, ENST00000273588, OTTHUMT00000346216
    Conserved Domains (3) summary
    PLN02319
    Location:16400
    Blast Score: 1357
    PLN02319; aminomethyltransferase
    pfam01571
    Location:78291
    Blast Score: 582
    GCV_T; Aminomethyltransferase folate-binding domain
    pfam08669
    Location:301392
    Blast Score: 243
    GCV_T_C; Glycine cleavage T-protein C-terminal barrel domain
  2. NM_001164710.1NP_001158182.1  aminomethyltransferase, mitochondrial isoform 2 precursor

    See proteins identical to NP_001158182.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
    Source sequence(s)
    AK296177, DC387800, GD148179
    Consensus CDS
    CCDS54584.1
    UniProtKB/Swiss-Prot
    P48728
    Related
    ENSP00000415619, OTTHUMP00000210793, ENST00000458307, OTTHUMT00000346219
    Conserved Domains (3) summary
    PLN02319
    Location:16356
    Blast Score: 1142
    PLN02319; aminomethyltransferase
    pfam01571
    Location:78247
    Blast Score: 409
    GCV_T; Aminomethyltransferase folate-binding domain
    pfam08669
    Location:257348
    Blast Score: 241
    GCV_T_C; Glycine cleavage T-protein C-terminal barrel domain
  3. NM_001164711.1NP_001158183.1  aminomethyltransferase, mitochondrial isoform 3 precursor

    See proteins identical to NP_001158183.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon compared to variant 1. The resulting protein (isoform 3) is shorter compared to isoform 1.
    Source sequence(s)
    AC104452, AK293481, DC387800, GD148179
    Consensus CDS
    CCDS54583.1
    UniProtKB/Swiss-Prot
    P48728
    Related
    ENSP00000443200, ENST00000538581
    Conserved Domains (2) summary
    pfam01571
    Location:29235
    Blast Score: 542
    GCV_T; Aminomethyltransferase folate-binding domain
    pfam08669
    Location:245336
    Blast Score: 239
    GCV_T_C; Glycine cleavage T-protein C-terminal barrel domain
  4. NM_001164712.1NP_001158184.1  aminomethyltransferase, mitochondrial isoform 4 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 3' coding region that results in a frameshift compared to variant 1. The resulting protein (isoform 4) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    BC007546, DC387800
    Consensus CDS
    CCDS54585.1
    UniProtKB/Swiss-Prot
    P48728
    Related
    ENSP00000378747, ENST00000395338
    Conserved Domains (3) summary
    PLN02319
    Location:16379
    Blast Score: 1257
    PLN02319; aminomethyltransferase
    pfam01571
    Location:78291
    Blast Score: 579
    GCV_T; Aminomethyltransferase folate-binding domain
    pfam08669
    Location:301379
    Blast Score: 218
    GCV_T_C; Glycine cleavage T-protein C-terminal barrel domain

RNA

  1. NR_028435.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in the 5' coding region compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK096062, DC387800, GD148179

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12 

    Range
    49416778..49422678
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000135.1 

    Range
    49513933..49519839
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 

    Range
    49406978..49412879
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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