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Protein

Aminomethyltransferase, mitochondrial

Gene

AMT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

The glycine cleavage system catalyzes the degradation of glycine.1 Publication

Catalytic activityi

[Protein]-S8-aminomethyldihydrolipoyllysine + tetrahydrofolate = [protein]-dihydrolipoyllysine + 5,10-methylenetetrahydrofolate + NH3.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei232Substrate1 Publication1
Binding sitei261Substrate1 Publication1
Binding sitei399Substrate1 Publication1

GO - Molecular functioni

  • aminomethyltransferase activity Source: UniProtKB
  • transaminase activity Source: UniProtKB-KW

GO - Biological processi

  • glycine catabolic process Source: ProtInc
  • glycine decarboxylation via glycine cleavage system Source: UniProtKB

Keywordsi

Molecular functionAminotransferase, Transferase

Enzyme and pathway databases

BioCyciMetaCyc:HS07223-MONOMER
BRENDAi2.1.2.10 2681
ReactomeiR-HSA-6783984 Glycine degradation
SABIO-RKiP48728

Names & Taxonomyi

Protein namesi
Recommended name:
Aminomethyltransferase, mitochondrialCurated (EC:2.1.2.101 Publication)
Alternative name(s):
Glycine cleavage system T protein1 Publication
Short name:
GCVT
Gene namesi
Name:AMTImported
Synonyms:GCSTImported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000145020.14
HGNCiHGNC:473 AMT
MIMi238310 gene
neXtProtiNX_P48728

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Non-ketotic hyperglycinemia (NKH)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive disease characterized by accumulation of a large amount of glycine in body fluid and by severe neurological symptoms.
See also OMIM:605899
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00795142H → R in NKH. 1 PublicationCorresponds to variant dbSNP:rs121964983EnsemblClinVar.1
Natural variantiVAR_00795247G → R in NKH. 1 PublicationCorresponds to variant dbSNP:rs121964982EnsemblClinVar.1
Natural variantiVAR_07879494R → W in NKH. 1 PublicationCorresponds to variant dbSNP:rs1126422Ensembl.1
Natural variantiVAR_016847145N → I in NKH; loss of aminomethyltransferase activity. 2 PublicationsCorresponds to variant dbSNP:rs386833682EnsemblClinVar.1
Natural variantiVAR_016848211E → K in NKH. 1 PublicationCorresponds to variant dbSNP:rs116192290EnsemblClinVar.1
Natural variantiVAR_078795222R → C in NKH. 1 PublicationCorresponds to variant dbSNP:rs781466698Ensembl.1
Natural variantiVAR_074107265R → C in NKH. 1 PublicationCorresponds to variant dbSNP:rs779483959Ensembl.1
Natural variantiVAR_007953269G → D in NKH; decreased aminomethyltransferase activity. 2 PublicationsCorresponds to variant dbSNP:rs121964981EnsemblClinVar.1
Natural variantiVAR_007954276D → H in NKH. 1 PublicationCorresponds to variant dbSNP:rs121964984EnsemblClinVar.1
Natural variantiVAR_078796296R → C in NKH. 1 PublicationCorresponds to variant dbSNP:rs1056820947Ensembl.1
Natural variantiVAR_007955320R → H in NKH; loss of aminomethyltransferase activity. 4 PublicationsCorresponds to variant dbSNP:rs121964985EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi129D → A or N: Loss of aminomethyltransferase activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi275
GeneReviewsiAMT
MalaCardsiAMT
MIMi605899 phenotype
OpenTargetsiENSG00000145020
Orphaneti289863 Atypical glycine encephalopathy
289860 Infantile glycine encephalopathy
289857 Neonatal glycine encephalopathy
PharmGKBiPA24780

Chemistry databases

DrugBankiDB04789 5-methyltetrahydrofolic acid
DB00157 NADH
DB00116 Tetrahydrofolic acid

Polymorphism and mutation databases

BioMutaiAMT
DMDMi1346122

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 28MitochondrionBy similarityAdd BLAST28
ChainiPRO_000001075529 – 403Aminomethyltransferase, mitochondrialAdd BLAST375

Proteomic databases

EPDiP48728
MaxQBiP48728
PaxDbiP48728
PeptideAtlasiP48728
PRIDEiP48728
ProteomicsDBi55925
55926 [P48728-2]
55927 [P48728-3]

PTM databases

iPTMnetiP48728
PhosphoSitePlusiP48728

Expressioni

Gene expression databases

BgeeiENSG00000145020 Expressed in 217 organ(s), highest expression level in right uterine tube
CleanExiHS_AMT
ExpressionAtlasiP48728 baseline and differential
GenevisibleiP48728 HS

Organism-specific databases

HPAiHPA005566

Interactioni

Subunit structurei

The glycine cleavage system is composed of four proteins: P, T, L and H.1 Publication

Protein-protein interaction databases

BioGridi106772, 2 interactors
IntActiP48728, 3 interactors
STRINGi9606.ENSP00000273588

Structurei

Secondary structure

1403
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP48728
SMRiP48728
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP48728

Family & Domainsi

Sequence similaritiesi

Belongs to the GcvT family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2770 Eukaryota
COG0404 LUCA
GeneTreeiENSGT00530000063120
HOGENOMiHOG000239380
HOVERGENiHBG005822
InParanoidiP48728
KOiK00605
OMAiMPVQYPA
OrthoDBiEOG091G07Z1
PhylomeDBiP48728
TreeFamiTF313026

Family and domain databases

Gene3Di3.30.1360.120, 2 hits
InterProiView protein in InterPro
IPR006223 GCS_T
IPR028896 GCST/YgfZ/DmdA
IPR013977 GCV_T_C
IPR006222 GCV_T_N
IPR029043 GcvT/YgfZ_C
IPR027266 TrmE/GcvT_dom1
PfamiView protein in Pfam
PF01571 GCV_T, 1 hit
PF08669 GCV_T_C, 1 hit
PIRSFiPIRSF006487 GcvT, 1 hit
SUPFAMiSSF101790 SSF101790, 1 hit
TIGRFAMsiTIGR00528 gcvT, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 15 potential isoforms that are computationally mapped.iShow all

Isoform 1 (identifier: P48728-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MQRAVSVVAR LGFRLQAFPP ALCRPLSCAQ EVLRRTPLYD FHLAHGGKMV
60 70 80 90 100
AFAGWSLPVQ YRDSHTDSHL HTRQHCSLFD VSHMLQTKIL GSDRVKLMES
110 120 130 140 150
LVVGDIAELR PNQGTLSLFT NEAGGILDDL IVTNTSEGHL YVVSNAGCWE
160 170 180 190 200
KDLALMQDKV RELQNQGRDV GLEVLDNALL ALQGPTAAQV LQAGVADDLR
210 220 230 240 250
KLPFMTSAVM EVFGVSGCRV TRCGYTGEDG VEISVPVAGA VHLATAILKN
260 270 280 290 300
PEVKLAGLAA RDSLRLEAGL CLYGNDIDEH TTPVEGSLSW TLGKRRRAAM
310 320 330 340 350
DFPGAKVIVP QLKGRVQRRR VGLMCEGAPM RAHSPILNME GTKIGTVTSG
360 370 380 390 400
CPSPSLKKNV AMGYVPCEYS RPGTMLLVEV RRKQQMAVVS KMPFVPTNYY

TLK
Length:403
Mass (Da):43,946
Last modified:February 1, 1996 - v1
Checksum:i218DC9EEADFA9102
GO
Isoform 2 (identifier: P48728-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     30-85: Missing.

Note: No experimental confirmation available.
Show »
Length:347
Mass (Da):37,434
Checksum:i4C99E4B0F9C76299
GO
Isoform 3 (identifier: P48728-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     113-156: Missing.

Note: No experimental confirmation available.
Show »
Length:359
Mass (Da):39,267
Checksum:iB1DA25DDC565ECB8
GO
Isoform 4 (identifier: P48728-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     380-403: VRRKQQMAVVSKMPFVPTNYYTLK → LPSGPCF

Note: No experimental confirmation available.
Show »
Length:386
Mass (Da):41,780
Checksum:i3938EB3D01A8846B
GO

Computationally mapped potential isoform sequencesi

There are 15 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y695H0Y695_HUMAN
Aminomethyltransferase
AMT hCG_2001997
338Annotation score:
B3KTU4B3KTU4_HUMAN
Aminomethyltransferase
AMT
355Annotation score:
A0A1B0GTB6A0A1B0GTB6_HUMAN
Aminomethyltransferase
AMT
321Annotation score:
A0A1B0GVP5A0A1B0GVP5_HUMAN
Aminomethyltransferase
AMT
351Annotation score:
A0A1B0GTV8A0A1B0GTV8_HUMAN
Aminomethyltransferase
AMT
351Annotation score:
A0A1B0GTM2A0A1B0GTM2_HUMAN
Aminomethyltransferase
AMT
376Annotation score:
A0A1B0GUU7A0A1B0GUU7_HUMAN
Aminomethyltransferase, mitochondri...
AMT
242Annotation score:
F8WF62F8WF62_HUMAN
Aminomethyltransferase, mitochondri...
AMT
119Annotation score:
A0A1B0GTA8A0A1B0GTA8_HUMAN
Aminomethyltransferase, mitochondri...
AMT
359Annotation score:
A0A1B0GU55A0A1B0GU55_HUMAN
Aminomethyltransferase, mitochondri...
AMT
226Annotation score:
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti95V → C in BAA03512 (PubMed:8188235).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00795142H → R in NKH. 1 PublicationCorresponds to variant dbSNP:rs121964983EnsemblClinVar.1
Natural variantiVAR_00795247G → R in NKH. 1 PublicationCorresponds to variant dbSNP:rs121964982EnsemblClinVar.1
Natural variantiVAR_07879494R → W in NKH. 1 PublicationCorresponds to variant dbSNP:rs1126422Ensembl.1
Natural variantiVAR_016847145N → I in NKH; loss of aminomethyltransferase activity. 2 PublicationsCorresponds to variant dbSNP:rs386833682EnsemblClinVar.1
Natural variantiVAR_016848211E → K in NKH. 1 PublicationCorresponds to variant dbSNP:rs116192290EnsemblClinVar.1
Natural variantiVAR_078795222R → C in NKH. 1 PublicationCorresponds to variant dbSNP:rs781466698Ensembl.1
Natural variantiVAR_074107265R → C in NKH. 1 PublicationCorresponds to variant dbSNP:rs779483959Ensembl.1
Natural variantiVAR_007953269G → D in NKH; decreased aminomethyltransferase activity. 2 PublicationsCorresponds to variant dbSNP:rs121964981EnsemblClinVar.1
Natural variantiVAR_007954276D → H in NKH. 1 PublicationCorresponds to variant dbSNP:rs121964984EnsemblClinVar.1
Natural variantiVAR_078796296R → C in NKH. 1 PublicationCorresponds to variant dbSNP:rs1056820947Ensembl.1
Natural variantiVAR_007955320R → H in NKH; loss of aminomethyltransferase activity. 4 PublicationsCorresponds to variant dbSNP:rs121964985EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04255730 – 85Missing in isoform 2. 1 PublicationAdd BLAST56
Alternative sequenceiVSP_043288113 – 156Missing in isoform 3. 1 PublicationAdd BLAST44
Alternative sequenceiVSP_045418380 – 403VRRKQ…YYTLK → LPSGPCF in isoform 4. 1 PublicationAdd BLAST24

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D13811 mRNA Translation: BAA02967.1
D14686 Genomic DNA Translation: BAA03512.1
AK290600 mRNA Translation: BAF83289.1
AK293481 mRNA Translation: BAG56972.1
AK296177 mRNA Translation: BAG58912.1
AC104452 Genomic DNA No translation available.
CH471055 Genomic DNA Translation: EAW64984.1
BC007546 mRNA Translation: AAH07546.2
CCDSiCCDS2797.1 [P48728-1]
CCDS54583.1 [P48728-2]
CCDS54584.1 [P48728-3]
CCDS54585.1 [P48728-4]
PIRiI54192
RefSeqiNP_000472.2, NM_000481.3 [P48728-1]
NP_001158182.1, NM_001164710.1 [P48728-3]
NP_001158183.1, NM_001164711.1 [P48728-2]
NP_001158184.1, NM_001164712.1 [P48728-4]
UniGeneiHs.102

Genome annotation databases

EnsembliENST00000273588; ENSP00000273588; ENSG00000145020 [P48728-1]
ENST00000395338; ENSP00000378747; ENSG00000145020 [P48728-4]
ENST00000458307; ENSP00000415619; ENSG00000145020 [P48728-3]
ENST00000636522; ENSP00000489758; ENSG00000145020 [P48728-2]
GeneIDi275
KEGGihsa:275
UCSCiuc003cww.4 human [P48728-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiGCST_HUMAN
AccessioniPrimary (citable) accession number: P48728
Secondary accession number(s): A8K3I5
, B4DE61, B4DJQ0, E9PBG1, Q96IG6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: September 12, 2018
This is version 172 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome
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Main funding by: National Institutes of Health

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