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Q06210

- GFPT1_HUMAN

UniProt

Q06210 - GFPT1_HUMAN

Protein

Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1

Gene

GFPT1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 144 (01 Oct 2014)
      Sequence version 3 (23 Jan 2007)
      Previous versions | rss
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    Functioni

    Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins. Regulates the circadian expression of clock genes ARNTL/BMAL1 and CRY1.

    Catalytic activityi

    L-glutamine + D-fructose 6-phosphate = L-glutamate + D-glucosamine 6-phosphate.

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei2 – 21For GATase activityBy similarity
    Binding sitei444 – 4441Substrate
    Binding sitei584 – 5841Substrate

    GO - Molecular functioni

    1. amino acid binding Source: Ensembl
    2. carbohydrate binding Source: Ensembl
    3. glutamine-fructose-6-phosphate transaminase (isomerizing) activity Source: ProtInc

    GO - Biological processi

    1. activation of signaling protein activity involved in unfolded protein response Source: Reactome
    2. carbohydrate biosynthetic process Source: InterPro
    3. cellular protein metabolic process Source: Reactome
    4. cellular response to insulin stimulus Source: Ensembl
    5. circadian regulation of gene expression Source: UniProtKB
    6. dolichol-linked oligosaccharide biosynthetic process Source: Reactome
    7. endoplasmic reticulum unfolded protein response Source: Reactome
    8. energy reserve metabolic process Source: ProtInc
    9. fructose 6-phosphate metabolic process Source: ProtInc
    10. glucosamine biosynthetic process Source: Ensembl
    11. glutamine metabolic process Source: UniProtKB-KW
    12. negative regulation of glycogen biosynthetic process Source: Ensembl
    13. post-translational protein modification Source: Reactome
    14. protein homotetramerization Source: Ensembl
    15. protein N-linked glycosylation via asparagine Source: Reactome
    16. response to sucrose Source: Ensembl
    17. UDP-N-acetylglucosamine biosynthetic process Source: Reactome

    Keywords - Molecular functioni

    Aminotransferase, Transferase

    Keywords - Biological processi

    Biological rhythms

    Enzyme and pathway databases

    BioCyciMetaCyc:HS09974-MONOMER.
    ReactomeiREACT_18273. XBP1(S) activates chaperone genes.
    REACT_22394. Synthesis of UDP-N-acetyl-glucosamine.
    UniPathwayiUPA00113; UER00528.

    Protein family/group databases

    MEROPSiC44.970.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 (EC:2.6.1.16)
    Alternative name(s):
    D-fructose-6-phosphate amidotransferase 1
    Glutamine:fructose-6-phosphate amidotransferase 1
    Short name:
    GFAT 1
    Short name:
    GFAT1
    Hexosephosphate aminotransferase 1
    Gene namesi
    Name:GFPT1
    Synonyms:GFAT, GFPT
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:4241. GFPT1.

    Subcellular locationi

    GO - Cellular componenti

    1. cytosol Source: Reactome
    2. extracellular vesicular exosome Source: UniProt

    Pathology & Biotechi

    Involvement in diseasei

    Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542]: A congenital myasthenic syndrome characterized by onset of proximal muscle weakness in the first decade. Individuals with this condition have a recognizable pattern of weakness of shoulder and pelvic girdle muscles, and sparing of ocular or facial muscles. EMG classically shows a decremental response to repeated nerve stimulation, a sign of neuromuscular junction dysfunction. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti15 – 151T → A in CMSTA1. 1 Publication
    VAR_065339
    Natural varianti15 – 151T → M in CMSTA1. 1 Publication
    VAR_065340
    Natural varianti43 – 431D → V in CMSTA1. 1 Publication
    VAR_065341
    Natural varianti111 – 1111R → C in CMSTA1. 1 Publication
    Corresponds to variant rs201322234 [ dbSNP | Ensembl ].
    VAR_065342
    Natural varianti121 – 1211I → T in CMSTA1. 1 Publication
    VAR_065343
    Natural varianti199 – 1991V → F in CMSTA1. 1 Publication
    VAR_065344
    Natural varianti366 – 3661D → Y in CMSTA1. 1 Publication
    VAR_065345
    Natural varianti403 – 4031R → H in CMSTA1. 1 Publication
    VAR_065346
    Natural varianti452 – 4521R → H in CMSTA1. 1 Publication
    VAR_065347
    Natural varianti509 – 5091M → T in CMSTA1. 1 Publication
    VAR_065348
    Natural varianti510 – 5101M → T in CMSTA1. 1 Publication
    VAR_065349
    Natural varianti514 – 5141R → W in CMSTA1. 1 Publication
    VAR_065350
    Natural varianti530 – 5301R → W in CMSTA1. 1 Publication
    VAR_065351

    Keywords - Diseasei

    Congenital myasthenic syndrome, Disease mutation

    Organism-specific databases

    MIMi610542. phenotype.
    Orphaneti353327. Congenital myasthenic syndromes with glycosylation defect.
    PharmGKBiPA28651.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11RemovedBy similarity
    Chaini2 – 699698Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1PRO_0000135280Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei261 – 2611Phosphoserine3 Publications

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ06210.
    PaxDbiQ06210.
    PRIDEiQ06210.

    PTM databases

    PhosphoSiteiQ06210.

    Expressioni

    Tissue specificityi

    Isoform 1 is predominantly expressed in skeletal muscle. Not expressed in brain. Seems to be selectively expressed in striated muscle.1 Publication

    Gene expression databases

    BgeeiQ06210.
    CleanExiHS_GFPT1.
    GenevestigatoriQ06210.

    Organism-specific databases

    HPAiHPA047240.

    Interactioni

    Subunit structurei

    Homotetramer Probable, may also exist as homodimers.1 Publication

    Protein-protein interaction databases

    BioGridi108941. 25 interactions.
    IntActiQ06210. 4 interactions.
    MINTiMINT-5001216.
    STRINGi9606.ENSP00000354347.

    Structurei

    Secondary structure

    1
    699
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi339 – 3413
    Helixi342 – 3487
    Helixi350 – 3589
    Turni359 – 3613
    Turni364 – 3674
    Helixi372 – 3743
    Turni375 – 3773
    Helixi378 – 3836
    Beta strandi385 – 3917
    Helixi393 – 41018
    Beta strandi414 – 4185
    Helixi419 – 4246
    Beta strandi433 – 44210
    Helixi445 – 45612
    Beta strandi460 – 4667
    Helixi471 – 4755
    Beta strandi476 – 4816
    Beta strandi489 – 4913
    Helixi494 – 51017
    Turni511 – 5133
    Helixi515 – 5173
    Helixi518 – 53922
    Helixi542 – 55211
    Beta strandi556 – 5627
    Helixi564 – 5663
    Helixi567 – 58115
    Beta strandi584 – 5896
    Helixi590 – 5956
    Helixi597 – 6004
    Beta strandi602 – 6054
    Beta strandi607 – 6115
    Helixi617 – 62913
    Beta strandi635 – 6395
    Helixi643 – 6486
    Beta strandi650 – 6556
    Turni660 – 6623
    Helixi663 – 6675
    Helixi669 – 68113
    Beta strandi686 – 6883

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2V4MX-ray2.29A/B/C/D332-699[»]
    2ZJ3X-ray1.90A332-699[»]
    2ZJ4X-ray2.20A332-699[»]
    ProteinModelPortaliQ06210.
    SMRiQ06210. Positions 16-230, 274-699.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ06210.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini2 – 305304Glutamine amidotransferase type-2PROSITE-ProRule annotationAdd
    BLAST
    Domaini377 – 516140SIS 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini548 – 689142SIS 2PROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni313 – 680368IsomeraseAdd
    BLAST
    Regioni394 – 3952Substrate-binding
    Regioni439 – 4413Substrate-binding

    Sequence similaritiesi

    Contains 1 glutamine amidotransferase type-2 domain.PROSITE-ProRule annotation
    Contains 2 SIS domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Glutamine amidotransferase, Repeat

    Phylogenomic databases

    eggNOGiCOG0449.
    HOGENOMiHOG000258898.
    HOVERGENiHBG051724.
    InParanoidiQ06210.
    KOiK00820.
    OMAiPVTRRFM.
    OrthoDBiEOG73NG2S.
    PhylomeDBiQ06210.
    TreeFamiTF300864.

    Family and domain databases

    Gene3Di3.60.20.10. 2 hits.
    InterProiIPR017932. GATase_2_dom.
    IPR000583. GATase_dom.
    IPR005855. GlmS_trans.
    IPR029055. Ntn_hydrolases_N.
    IPR001347. SIS.
    [Graphical view]
    PfamiPF00310. GATase_2. 2 hits.
    PF01380. SIS. 2 hits.
    [Graphical view]
    SUPFAMiSSF56235. SSF56235. 2 hits.
    TIGRFAMsiTIGR01135. glmS. 1 hit.
    PROSITEiPS51278. GATASE_TYPE_2. 1 hit.
    PS51464. SIS. 2 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

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

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q06210-1) [UniParc]FASTAAdd to Basket

    Also known as: GFAT1m

    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

    MCGIFAYLNY HVPRTRREIL ETLIKGLQRL EYRGYDSAGV GFDGGNDKDW    50
    EANACKIQLI KKKGKVKALD EEVHKQQDMD LDIEFDVHLG IAHTRWATHG 100
    EPSPVNSHPQ RSDKNNEFIV IHNGIITNYK DLKKFLESKG YDFESETDTE 150
    TIAKLVKYMY DNRESQDTSF TTLVERVIQQ LEGAFALVFK SVHFPGQAVG 200
    TRRGSPLLIG VRSEHKLSTD HIPILYRTAR TQIGSKFTRW GSQGERGKDK 250
    KGSCNLSRVD STTCLFPVEE KAVEYYFASD ASAVIEHTNR VIFLEDDDVA 300
    AVVDGRLSIH RIKRTAGDHP GRAVQTLQME LQQIMKGNFS SFMQKEIFEQ 350
    PESVVNTMRG RVNFDDYTVN LGGLKDHIKE IQRCRRLILI ACGTSYHAGV 400
    ATRQVLEELT ELPVMVELAS DFLDRNTPVF RDDVCFFLSQ SGETADTLMG 450
    LRYCKERGAL TVGITNTVGS SISRETDCGV HINAGPEIGV ASTKAYTSQF 500
    VSLVMFALMM CDDRISMQER RKEIMLGLKR LPDLIKEVLS MDDEIQKLAT 550
    ELYHQKSVLI MGRGYHYATC LEGALKIKEI TYMHSEGILA GELKHGPLAL 600
    VDKLMPVIMI IMRDHTYAKC QNALQQVVAR QGRPVVICDK EDTETIKNTK 650
    RTIKVPHSVD CLQGILSVIP LQLLAFHLAV LRGYDVDFPR NLAKSVTVE 699
    Length:699
    Mass (Da):78,806
    Last modified:January 23, 2007 - v3
    Checksum:iF0533A7B762C7B98
    GO
    Isoform 2 (identifier: Q06210-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         229-246: Missing.

    Show »
    Length:681
    Mass (Da):76,759
    Checksum:i5CB56FDB5E4F76FA
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti15 – 151T → A in CMSTA1. 1 Publication
    VAR_065339
    Natural varianti15 – 151T → M in CMSTA1. 1 Publication
    VAR_065340
    Natural varianti43 – 431D → V in CMSTA1. 1 Publication
    VAR_065341
    Natural varianti111 – 1111R → C in CMSTA1. 1 Publication
    Corresponds to variant rs201322234 [ dbSNP | Ensembl ].
    VAR_065342
    Natural varianti121 – 1211I → T in CMSTA1. 1 Publication
    VAR_065343
    Natural varianti199 – 1991V → F in CMSTA1. 1 Publication
    VAR_065344
    Natural varianti366 – 3661D → Y in CMSTA1. 1 Publication
    VAR_065345
    Natural varianti403 – 4031R → H in CMSTA1. 1 Publication
    VAR_065346
    Natural varianti452 – 4521R → H in CMSTA1. 1 Publication
    VAR_065347
    Natural varianti509 – 5091M → T in CMSTA1. 1 Publication
    VAR_065348
    Natural varianti510 – 5101M → T in CMSTA1. 1 Publication
    VAR_065349
    Natural varianti514 – 5141R → W in CMSTA1. 1 Publication
    VAR_065350
    Natural varianti530 – 5301R → W in CMSTA1. 1 Publication
    VAR_065351

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei229 – 24618Missing in isoform 2. 2 PublicationsVSP_007497Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M90516 mRNA. Translation: AAA58502.1.
    AC114772 Genomic DNA. Translation: AAY14827.1.
    BC045641 mRNA. Translation: AAH45641.1.
    AF334737 mRNA. Translation: AAK15342.1.
    CCDSiCCDS33216.1. [Q06210-2]
    CCDS58713.1. [Q06210-1]
    PIRiA45055.
    RefSeqiNP_001231639.1. NM_001244710.1. [Q06210-1]
    NP_002047.2. NM_002056.3. [Q06210-2]
    UniGeneiHs.580300.

    Genome annotation databases

    EnsembliENST00000357308; ENSP00000349860; ENSG00000198380. [Q06210-1]
    ENST00000361060; ENSP00000354347; ENSG00000198380. [Q06210-2]
    GeneIDi2673.
    KEGGihsa:2673.
    UCSCiuc002sfh.3. human. [Q06210-2]
    uc002sfi.2. human. [Q06210-1]

    Polymorphism databases

    DMDMi30923274.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M90516 mRNA. Translation: AAA58502.1 .
    AC114772 Genomic DNA. Translation: AAY14827.1 .
    BC045641 mRNA. Translation: AAH45641.1 .
    AF334737 mRNA. Translation: AAK15342.1 .
    CCDSi CCDS33216.1. [Q06210-2 ]
    CCDS58713.1. [Q06210-1 ]
    PIRi A45055.
    RefSeqi NP_001231639.1. NM_001244710.1. [Q06210-1 ]
    NP_002047.2. NM_002056.3. [Q06210-2 ]
    UniGenei Hs.580300.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2V4M X-ray 2.29 A/B/C/D 332-699 [» ]
    2ZJ3 X-ray 1.90 A 332-699 [» ]
    2ZJ4 X-ray 2.20 A 332-699 [» ]
    ProteinModelPortali Q06210.
    SMRi Q06210. Positions 16-230, 274-699.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108941. 25 interactions.
    IntActi Q06210. 4 interactions.
    MINTi MINT-5001216.
    STRINGi 9606.ENSP00000354347.

    Chemistry

    BindingDBi Q06210.
    ChEMBLi CHEMBL1909481.

    Protein family/group databases

    MEROPSi C44.970.

    PTM databases

    PhosphoSitei Q06210.

    Polymorphism databases

    DMDMi 30923274.

    Proteomic databases

    MaxQBi Q06210.
    PaxDbi Q06210.
    PRIDEi Q06210.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000357308 ; ENSP00000349860 ; ENSG00000198380 . [Q06210-1 ]
    ENST00000361060 ; ENSP00000354347 ; ENSG00000198380 . [Q06210-2 ]
    GeneIDi 2673.
    KEGGi hsa:2673.
    UCSCi uc002sfh.3. human. [Q06210-2 ]
    uc002sfi.2. human. [Q06210-1 ]

    Organism-specific databases

    CTDi 2673.
    GeneCardsi GC02M069546.
    GeneReviewsi GFPT1.
    HGNCi HGNC:4241. GFPT1.
    HPAi HPA047240.
    MIMi 138292. gene.
    610542. phenotype.
    neXtProti NX_Q06210.
    Orphaneti 353327. Congenital myasthenic syndromes with glycosylation defect.
    PharmGKBi PA28651.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0449.
    HOGENOMi HOG000258898.
    HOVERGENi HBG051724.
    InParanoidi Q06210.
    KOi K00820.
    OMAi PVTRRFM.
    OrthoDBi EOG73NG2S.
    PhylomeDBi Q06210.
    TreeFami TF300864.

    Enzyme and pathway databases

    UniPathwayi UPA00113 ; UER00528 .
    BioCyci MetaCyc:HS09974-MONOMER.
    Reactomei REACT_18273. XBP1(S) activates chaperone genes.
    REACT_22394. Synthesis of UDP-N-acetyl-glucosamine.

    Miscellaneous databases

    ChiTaRSi GFPT1. human.
    EvolutionaryTracei Q06210.
    GeneWikii GFPT1.
    GenomeRNAii 2673.
    NextBioi 10550.
    PROi Q06210.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q06210.
    CleanExi HS_GFPT1.
    Genevestigatori Q06210.

    Family and domain databases

    Gene3Di 3.60.20.10. 2 hits.
    InterProi IPR017932. GATase_2_dom.
    IPR000583. GATase_dom.
    IPR005855. GlmS_trans.
    IPR029055. Ntn_hydrolases_N.
    IPR001347. SIS.
    [Graphical view ]
    Pfami PF00310. GATase_2. 2 hits.
    PF01380. SIS. 2 hits.
    [Graphical view ]
    SUPFAMi SSF56235. SSF56235. 2 hits.
    TIGRFAMsi TIGR01135. glmS. 1 hit.
    PROSITEi PS51278. GATASE_TYPE_2. 1 hit.
    PS51464. SIS. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning, cDNA sequence, and bacterial expression of human glutamine:fructose-6-phosphate amidotransferase."
      McKnight G.L., Mudri S.L., Mathewes S.L., Traxinger R.R., Marshall S., Sheppard P.O., O'Hara P.J.
      J. Biol. Chem. 267:25208-25212(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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] (ISOFORM 2).
    4. "A novel variant of glutamine:fructose-6-phosphate amidotransferase-1 (GFAT1) mRNA is selectively expressed in striated muscle."
      DeHaven J.E., Robinson K.A., Nelson B.A., Buse M.G.
      Diabetes 50:2419-2424(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 124-275 (ISOFORM 1), TISSUE SPECIFICITY.
    5. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
      Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    6. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
      Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
      Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-261, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-261, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. "Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography."
      Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D., Zou H., Gu J.
      Proteomics 8:1346-1361(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Liver.
    9. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-261, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    12. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    15. "Structural analysis of human glutamine:fructose-6-phosphate amidotransferase, a key regulator in type 2 diabetes."
      Nakaishi Y., Bando M., Shimizu H., Watanabe K., Goto F., Tsuge H., Kondo K., Komatsu M.
      FEBS Lett. 583:163-167(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) OF 332-699, SUBUNIT, SUBSTRATE-BINDING SITES.
    16. Cited for: VARIANTS CMSTA1 ALA-15; MET-15; VAL-43; CYS-111; THR-121; PHE-199; TYR-366; HIS-403; HIS-452; THR-509; THR-510; TRP-514 AND TRP-530.

    Entry informationi

    Entry nameiGFPT1_HUMAN
    AccessioniPrimary (citable) accession number: Q06210
    Secondary accession number(s): Q53QE6, Q9BXF8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 1, 1994
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 144 of the entry and version 3 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 2
      Human chromosome 2: 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. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3