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P48728

- GCST_HUMAN

UniProt

P48728 - GCST_HUMAN

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Protein

Aminomethyltransferase, mitochondrial

Gene

AMT

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

The glycine cleavage system catalyzes the degradation of glycine.

Catalytic activityi

[Protein]-S(8)-aminomethyldihydrolipoyllysine + tetrahydrofolate = [protein]-dihydrolipoyllysine + 5,10-methylenetetrahydrofolate + NH3.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei232 – 2321Substrate
Binding sitei261 – 2611Substrate
Binding sitei399 – 3991Substrate

GO - Molecular functioni

  1. aminomethyltransferase activity Source: UniProtKB-EC
  2. transaminase activity Source: UniProtKB-KW

GO - Biological processi

  1. glycine catabolic process Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Aminotransferase, Transferase

Enzyme and pathway databases

BioCyciMetaCyc:HS07223-MONOMER.
SABIO-RKP48728.

Names & Taxonomyi

Protein namesi
Recommended name:
Aminomethyltransferase, mitochondrial (EC:2.1.2.10)
Alternative name(s):
Glycine cleavage system T protein
Short name:
GCVT
Gene namesi
Name:AMT
Synonyms:GCST
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:473. AMT.

Subcellular locationi

GO - Cellular componenti

  1. mitochondrion Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Non-ketotic hyperglycinemia (NKH) [MIM:605899]: Autosomal recessive disease characterized by accumulation of a large amount of glycine in body fluid and by severe neurological symptoms.5 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti42 – 421H → R in NKH. 1 Publication
VAR_007951
Natural varianti47 – 471G → R in NKH. 1 Publication
VAR_007952
Natural varianti145 – 1451N → I in NKH. 1 Publication
VAR_016847
Natural varianti211 – 2111E → K in NKH. 1 Publication
Corresponds to variant rs116192290 [ dbSNP | Ensembl ].
VAR_016848
Natural varianti269 – 2691G → D in NKH. 1 Publication
VAR_007953
Natural varianti276 – 2761D → H in NKH. 1 Publication
VAR_007954
Natural varianti320 – 3201R → H in NKH. 3 Publications
VAR_007955

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi605899. phenotype.
Orphaneti289863. Atypical glycine encephalopathy.
289860. Infantile glycine encephalopathy.
289857. Neonatal glycine encephalopathy.
PharmGKBiPA24780.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 2828MitochondrionBy similarityAdd
BLAST
Chaini29 – 403375Aminomethyltransferase, mitochondrialPRO_0000010755Add
BLAST

Proteomic databases

MaxQBiP48728.
PaxDbiP48728.
PRIDEiP48728.

PTM databases

PhosphoSiteiP48728.

Expressioni

Gene expression databases

BgeeiP48728.
CleanExiHS_AMT.
ExpressionAtlasiP48728. baseline and differential.
GenevestigatoriP48728.

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. 1 interaction.
IntActiP48728. 1 interaction.
STRINGi9606.ENSP00000273588.

Structurei

Secondary structure

1
403
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi39 – 446Combined sources
Beta strandi48 – 525Combined sources
Beta strandi55 – 606Combined sources
Helixi65 – 7410Combined sources
Beta strandi75 – 806Combined sources
Beta strandi84 – 918Combined sources
Helixi94 – 1018Combined sources
Beta strandi102 – 1043Combined sources
Beta strandi113 – 1208Combined sources
Beta strandi126 – 1349Combined sources
Beta strandi138 – 1447Combined sources
Helixi146 – 1483Combined sources
Helixi149 – 16517Combined sources
Beta strandi171 – 1744Combined sources
Beta strandi178 – 1847Combined sources
Helixi187 – 1926Combined sources
Helixi199 – 2013Combined sources
Beta strandi206 – 2127Combined sources
Beta strandi215 – 2228Combined sources
Beta strandi225 – 23511Combined sources
Helixi237 – 24812Combined sources
Beta strandi253 – 2553Combined sources
Helixi258 – 26710Combined sources
Turni273 – 2753Combined sources
Turni283 – 2875Combined sources
Helixi289 – 2913Combined sources
Helixi294 – 2996Combined sources
Helixi305 – 3128Combined sources
Beta strandi319 – 32810Combined sources
Beta strandi335 – 3373Combined sources
Beta strandi343 – 35311Combined sources
Turni354 – 3574Combined sources
Beta strandi358 – 3658Combined sources
Helixi367 – 3693Combined sources
Beta strandi375 – 3806Combined sources
Beta strandi383 – 3908Combined sources

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1WSRX-ray2.00A/B29-403[»]
1WSVX-ray2.60A/B29-403[»]
ProteinModelPortaliP48728.
SMRiP48728. Positions 32-402.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP48728.

Family & Domainsi

Sequence similaritiesi

Belongs to the GcvT family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG0404.
GeneTreeiENSGT00510000047333.
HOGENOMiHOG000239380.
HOVERGENiHBG005822.
InParanoidiP48728.
KOiK00605.
OMAiFGPSFDG.
PhylomeDBiP48728.
TreeFamiTF313026.

Family and domain databases

Gene3Di2.40.30.110. 1 hit.
3.30.1360.120. 2 hits.
InterProiIPR006223. GCS_T.
IPR028896. GCST/DmdA.
IPR013977. GCV_T_C.
IPR006222. GCV_T_N.
IPR029043. GcvT/YgfZ_C.
IPR027266. TrmE/GcvT_dom1.
[Graphical view]
PANTHERiPTHR13847:SF5. PTHR13847:SF5. 1 hit.
PfamiPF01571. GCV_T. 1 hit.
PF08669. GCV_T_C. 1 hit.
[Graphical view]
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. Align

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti95 – 951V → C in BAA03512. (PubMed:8188235)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti42 – 421H → R in NKH. 1 Publication
VAR_007951
Natural varianti47 – 471G → R in NKH. 1 Publication
VAR_007952
Natural varianti145 – 1451N → I in NKH. 1 Publication
VAR_016847
Natural varianti211 – 2111E → K in NKH. 1 Publication
Corresponds to variant rs116192290 [ dbSNP | Ensembl ].
VAR_016848
Natural varianti269 – 2691G → D in NKH. 1 Publication
VAR_007953
Natural varianti276 – 2761D → H in NKH. 1 Publication
VAR_007954
Natural varianti320 – 3201R → H in NKH. 3 Publications
VAR_007955

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei30 – 8556Missing in isoform 2. 1 PublicationVSP_042557Add
BLAST
Alternative sequencei113 – 15644Missing in isoform 3. 1 PublicationVSP_043288Add
BLAST
Alternative sequencei380 – 40324VRRKQ…YYTLK → LPSGPCF in isoform 4. 1 PublicationVSP_045418Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
ENST00000538581; ENSP00000443200; ENSG00000145020. [P48728-2]
GeneIDi275.
KEGGihsa:275.
UCSCiuc003cww.3. human. [P48728-1]
uc011bco.2. human. [P48728-3]
uc011bcq.2. human. [P48728-2]

Polymorphism databases

DMDMi1346122.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS2797.1. [P48728-1 ]
CCDS54583.1. [P48728-2 ]
CCDS54584.1. [P48728-3 ]
CCDS54585.1. [P48728-4 ]
PIRi I54192.
RefSeqi NP_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 ]
UniGenei Hs.102.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1WSR X-ray 2.00 A/B 29-403 [» ]
1WSV X-ray 2.60 A/B 29-403 [» ]
ProteinModelPortali P48728.
SMRi P48728. Positions 32-402.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 106772. 1 interaction.
IntActi P48728. 1 interaction.
STRINGi 9606.ENSP00000273588.

Chemistry

DrugBanki DB00116. Tetrahydrofolic acid.

PTM databases

PhosphoSitei P48728.

Polymorphism databases

DMDMi 1346122.

Proteomic databases

MaxQBi P48728.
PaxDbi P48728.
PRIDEi P48728.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000273588 ; ENSP00000273588 ; ENSG00000145020 . [P48728-1 ]
ENST00000395338 ; ENSP00000378747 ; ENSG00000145020 . [P48728-4 ]
ENST00000458307 ; ENSP00000415619 ; ENSG00000145020 . [P48728-3 ]
ENST00000538581 ; ENSP00000443200 ; ENSG00000145020 . [P48728-2 ]
GeneIDi 275.
KEGGi hsa:275.
UCSCi uc003cww.3. human. [P48728-1 ]
uc011bco.2. human. [P48728-3 ]
uc011bcq.2. human. [P48728-2 ]

Organism-specific databases

CTDi 275.
GeneCardsi GC03M049454.
GeneReviewsi AMT.
HGNCi HGNC:473. AMT.
HPAi HPA005566.
MIMi 238310. gene.
605899. phenotype.
neXtProti NX_P48728.
Orphaneti 289863. Atypical glycine encephalopathy.
289860. Infantile glycine encephalopathy.
289857. Neonatal glycine encephalopathy.
PharmGKBi PA24780.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0404.
GeneTreei ENSGT00510000047333.
HOGENOMi HOG000239380.
HOVERGENi HBG005822.
InParanoidi P48728.
KOi K00605.
OMAi FGPSFDG.
PhylomeDBi P48728.
TreeFami TF313026.

Enzyme and pathway databases

BioCyci MetaCyc:HS07223-MONOMER.
SABIO-RK P48728.

Miscellaneous databases

ChiTaRSi AMT. human.
EvolutionaryTracei P48728.
GenomeRNAii 275.
NextBioi 1109.
PROi P48728.
SOURCEi Search...

Gene expression databases

Bgeei P48728.
CleanExi HS_AMT.
ExpressionAtlasi P48728. baseline and differential.
Genevestigatori P48728.

Family and domain databases

Gene3Di 2.40.30.110. 1 hit.
3.30.1360.120. 2 hits.
InterProi IPR006223. GCS_T.
IPR028896. GCST/DmdA.
IPR013977. GCV_T_C.
IPR006222. GCV_T_N.
IPR029043. GcvT/YgfZ_C.
IPR027266. TrmE/GcvT_dom1.
[Graphical view ]
PANTHERi PTHR13847:SF5. PTHR13847:SF5. 1 hit.
Pfami PF01571. GCV_T. 1 hit.
PF08669. GCV_T_C. 1 hit.
[Graphical view ]
PIRSFi PIRSF006487. GcvT. 1 hit.
SUPFAMi SSF101790. SSF101790. 1 hit.
TIGRFAMsi TIGR00528. gcvT. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Isolation and sequence determination of cDNA encoding human T-protein of the glycine cleavage system."
    Hayasaka K., Nanao K., Takada G., Okamura-Ikeda K., Motokawa Y.
    Biochem. Biophys. Res. Commun. 192:766-771(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Structure and chromosomal localization of the aminomethyltransferase gene (AMT)."
    Nanao K., Takada G., Takahashi E., Seki N., Komatsu Y., Okamura-Ikeda K., Motokawa Y., Hayasaka K.
    Genomics 19:27-30(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
    Tissue: Cerebellum, Heart and Thalamus.
  4. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4-386 (ISOFORM 4).
    Tissue: Colon.
  7. "Crystal structure of human T-protein of glycine cleavage system at 2.0 A resolution and its implication for understanding non-ketotic hyperglycinemia."
    Okamura-Ikeda K., Hosaka H., Yoshimura M., Yamashita E., Toma S., Nakagawa A., Fujiwara K., Motokawa Y., Taniguchi H.
    J. Mol. Biol. 351:1146-1159(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 29-403 ALONE AND IN COMPLEX WITH 5-METHYLTETRAHYDROFOLATE, SUBSTRATE-BINDING SITES.
  8. "Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia."
    Nanao K., Okamura-Ikeda K., Motokawa Y., Danks D.M., Baumgartner E.R., Takada G., Hayasaka K.
    Hum. Genet. 93:655-658(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NKH ARG-47; ASP-269 AND HIS-320.
  9. "A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia."
    Kure S., Mandel H., Rolland M.-O., Sakata Y., Shinka T., Drugan A., Boneh A., Tada K., Matsubara Y., Narisawa K.
    Hum. Genet. 102:430-434(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NKH ARG-42.
  10. "A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia."
    Kure S., Shinka T., Sakata Y., Osamu N., Takayanagi M., Tada K., Matsubara Y., Narisawa K.
    J. Hum. Genet. 43:135-137(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NKH HIS-276.
  11. "Biochemical and molecular investigations of patients with nonketotic hyperglycinemia."
    Toone J.R., Applegarth D.A., Coulter-Mackie M.B., James E.R.
    Mol. Genet. Metab. 70:116-121(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NKH LYS-211 AND HIS-320.
  12. "Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH)."
    Toone J.R., Applegarth D.A., Coulter-Mackie M.B., James E.R.
    Mol. Genet. Metab. 72:322-325(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NKH ILE-145 AND HIS-320.

Entry informationi

Entry nameiGCST_HUMAN
AccessioniPrimary (citable) accession number: P48728
Secondary accession number(s): A8K3I5
, B4DE61, B4DJQ0, E9PBG1, Q96IG6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: October 29, 2014
This is version 139 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3