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O94808

- GFPT2_HUMAN

UniProt

O94808 - GFPT2_HUMAN

Protein

Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2

Gene

GFPT2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 126 (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.

    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

    GO - Molecular functioni

    1. carbohydrate binding Source: InterPro
    2. glutamine-fructose-6-phosphate transaminase (isomerizing) activity Source: ProtInc

    GO - Biological processi

    1. carbohydrate biosynthetic process Source: InterPro
    2. cellular protein metabolic process Source: Reactome
    3. dolichol-linked oligosaccharide biosynthetic process Source: Reactome
    4. energy reserve metabolic process Source: ProtInc
    5. fructose 6-phosphate metabolic process Source: ProtInc
    6. glutamine metabolic process Source: UniProtKB-KW
    7. post-translational protein modification Source: Reactome
    8. protein N-linked glycosylation via asparagine Source: Reactome
    9. UDP-N-acetylglucosamine biosynthetic process Source: Reactome

    Keywords - Molecular functioni

    Aminotransferase, Transferase

    Enzyme and pathway databases

    ReactomeiREACT_22394. Synthesis of UDP-N-acetyl-glucosamine.
    UniPathwayiUPA00113; UER00528.

    Protein family/group databases

    MEROPSiC44.972.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2 (EC:2.6.1.16)
    Alternative name(s):
    D-fructose-6-phosphate amidotransferase 2
    Glutamine:fructose-6-phosphate amidotransferase 2
    Short name:
    GFAT 2
    Short name:
    GFAT2
    Hexosephosphate aminotransferase 2
    Gene namesi
    Name:GFPT2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:4242. GFPT2.

    Subcellular locationi

    GO - Cellular componenti

    1. cytosol Source: Reactome

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA28652.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11RemovedBy similarity
    Chaini2 – 682681Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2PRO_0000135283Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei245 – 2451PhosphoserineBy similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiO94808.
    PaxDbiO94808.
    PRIDEiO94808.

    PTM databases

    PhosphoSiteiO94808.

    Expressioni

    Tissue specificityi

    Highest levels of expression in heart, placenta, and spinal cord.

    Gene expression databases

    ArrayExpressiO94808.
    BgeeiO94808.
    CleanExiHS_GFPT2.
    GenevestigatoriO94808.

    Organism-specific databases

    HPAiHPA049528.
    HPA056892.

    Interactioni

    Protein-protein interaction databases

    BioGridi115270. 5 interactions.
    STRINGi9606.ENSP00000253778.

    Structurei

    3D structure databases

    ProteinModelPortaliO94808.
    SMRiO94808. Positions 16-682.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini2 – 288287Glutamine amidotransferase type-2PROSITE-ProRule annotationAdd
    BLAST
    Domaini360 – 499140SIS 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini531 – 672142SIS 2PROSITE-ProRule annotationAdd
    BLAST

    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.
    InParanoidiO94808.
    KOiK00820.
    OMAiRCLPEMI.
    OrthoDBiEOG73NG2S.
    PhylomeDBiO94808.
    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]

    Sequencei

    Sequence statusi: Complete.

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

    O94808-1 [UniParc]FASTAAdd to Basket

    « Hide

    MCGIFAYMNY RVPRTRKEIF ETLIKGLQRL EYRGYDSAGV AIDGNNHEVK    50
    ERHIQLVKKR GKVKALDEEL YKQDSMDLKV EFETHFGIAH TRWATHGVPS 100
    AVNSHPQRSD KGNEFVVIHN GIITNYKDLR KFLESKGYEF ESETDTETIA 150
    KLIKYVFDNR ETEDITFSTL VERVIQQLEG AFALVFKSVH YPGEAVATRR 200
    GSPLLIGVRS KYKLSTEQIP ILYRTCTLEN VKNICKTRMK RLDSSACLHA 250
    VGDKAVEFFF ASDASAIIEH TNRVIFLEDD DIAAVADGKL SIHRVKRSAS 300
    DDPSRAIQTL QMELQQIMKG NFSAFMQKEI FEQPESVFNT MRGRVNFETN 350
    TVLLGGLKDH LKEIRRCRRL IVIGCGTSYH AAVATRQVLE ELTELPVMVE 400
    LASDFLDRNT PVFRDDVCFF ISQSGETADT LLALRYCKDR GALTVGVTNT 450
    VGSSISRETD CGVHINAGPE IGVASTKAYT SQFISLVMFG LMMSEDRISL 500
    QNRRQEIIRG LRSLPELIKE VLSLEEKIHD LALELYTQRS LLVMGRGYNY 550
    ATCLEGALKI KEITYMHSEG ILAGELKHGP LALIDKQMPV IMVIMKDPCF 600
    AKCQNALQQV TARQGRPIIL CSKDDTESSK FAYKTIELPH TVDCLQGILS 650
    VIPLQLLSFH LAVLRGYDVD FPRNLAKSVT VE 682
    Length:682
    Mass (Da):76,931
    Last modified:January 23, 2007 - v3
    Checksum:iA090D75526F3192B
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti471 – 4711I → V.1 Publication
    Corresponds to variant rs2303007 [ dbSNP | Ensembl ].
    VAR_013311

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB016789 mRNA. Translation: BAA74731.1.
    BT009818 mRNA. Translation: AAP88820.1.
    BC000012 mRNA. Translation: AAH00012.1.
    CCDSiCCDS43411.1.
    RefSeqiNP_005101.1. NM_005110.2.
    UniGeneiHs.696497.

    Genome annotation databases

    EnsembliENST00000253778; ENSP00000253778; ENSG00000131459.
    GeneIDi9945.
    KEGGihsa:9945.
    UCSCiuc003mlw.1. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB016789 mRNA. Translation: BAA74731.1 .
    BT009818 mRNA. Translation: AAP88820.1 .
    BC000012 mRNA. Translation: AAH00012.1 .
    CCDSi CCDS43411.1.
    RefSeqi NP_005101.1. NM_005110.2.
    UniGenei Hs.696497.

    3D structure databases

    ProteinModelPortali O94808.
    SMRi O94808. Positions 16-682.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115270. 5 interactions.
    STRINGi 9606.ENSP00000253778.

    Chemistry

    DrugBanki DB00130. L-Glutamine.

    Protein family/group databases

    MEROPSi C44.972.

    PTM databases

    PhosphoSitei O94808.

    Proteomic databases

    MaxQBi O94808.
    PaxDbi O94808.
    PRIDEi O94808.

    Protocols and materials databases

    DNASUi 9945.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000253778 ; ENSP00000253778 ; ENSG00000131459 .
    GeneIDi 9945.
    KEGGi hsa:9945.
    UCSCi uc003mlw.1. human.

    Organism-specific databases

    CTDi 9945.
    GeneCardsi GC05M179727.
    HGNCi HGNC:4242. GFPT2.
    HPAi HPA049528.
    HPA056892.
    MIMi 603865. gene.
    neXtProti NX_O94808.
    PharmGKBi PA28652.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0449.
    HOGENOMi HOG000258898.
    HOVERGENi HBG051724.
    InParanoidi O94808.
    KOi K00820.
    OMAi RCLPEMI.
    OrthoDBi EOG73NG2S.
    PhylomeDBi O94808.
    TreeFami TF300864.

    Enzyme and pathway databases

    UniPathwayi UPA00113 ; UER00528 .
    Reactomei REACT_22394. Synthesis of UDP-N-acetyl-glucosamine.

    Miscellaneous databases

    GenomeRNAii 9945.
    NextBioi 37520.
    PROi O94808.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O94808.
    Bgeei O94808.
    CleanExi HS_GFPT2.
    Genevestigatori O94808.

    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. "cDNA cloning and mapping of a novel subtype of glutamine:fructose-6-phosphate amidotransferase (GFAT2) in human and mouse."
      Oki T., Yamazaki K., Kuromitsu J., Okada M., Tanaka I.
      Genomics 57:227-234(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Thymus.
    2. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT VAL-471.
    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].
      Tissue: Kidney.
    4. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    5. "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].

    Entry informationi

    Entry nameiGFPT2_HUMAN
    AccessioniPrimary (citable) accession number: O94808
    Secondary accession number(s): Q53XM2, Q9BWS4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 126 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3