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P48728

- GCST_HUMAN

UniProt

P48728 - GCST_HUMAN

Protein

Aminomethyltransferase, mitochondrial

Gene

AMT

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 138 (01 Oct 2014)
      Sequence version 1 (01 Feb 1996)
      Previous versions | rss
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    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

    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

    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

    ArrayExpressiP48728.
    BgeeiP48728.
    CleanExiHS_AMT.
    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

    IntActiP48728. 1 interaction.
    STRINGi9606.ENSP00000273588.

    Structurei

    Secondary structure

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

    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.
    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

    MQRAVSVVAR LGFRLQAFPP ALCRPLSCAQ EVLRRTPLYD FHLAHGGKMV    50
    AFAGWSLPVQ YRDSHTDSHL HTRQHCSLFD VSHMLQTKIL GSDRVKLMES 100
    LVVGDIAELR PNQGTLSLFT NEAGGILDDL IVTNTSEGHL YVVSNAGCWE 150
    KDLALMQDKV RELQNQGRDV GLEVLDNALL ALQGPTAAQV LQAGVADDLR 200
    KLPFMTSAVM EVFGVSGCRV TRCGYTGEDG VEISVPVAGA VHLATAILKN 250
    PEVKLAGLAA RDSLRLEAGL CLYGNDIDEH TTPVEGSLSW TLGKRRRAAM 300
    DFPGAKVIVP QLKGRVQRRR VGLMCEGAPM RAHSPILNME GTKIGTVTSG 350
    CPSPSLKKNV AMGYVPCEYS RPGTMLLVEV RRKQQMAVVS KMPFVPTNYY 400
    TLK 403
    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

    IntActi P48728. 1 interaction.
    STRINGi 9606.ENSP00000273588.

    Chemistry

    DrugBanki DB00157. NADH.
    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 GC03M049429.
    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.
    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

    ArrayExpressi P48728.
    Bgeei P48728.
    CleanExi HS_AMT.
    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

    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 1, 2014
    This is version 138 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