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Q9H3H5

- GPT_HUMAN

UniProt

Q9H3H5 - GPT_HUMAN

Protein

UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase

Gene

DPAGT1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 133 (01 Oct 2014)
      Sequence version 2 (29 Aug 2001)
      Previous versions | rss
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    Functioni

    Catalyzes the initial step in the synthesis of dolichol-P-P-oligosaccharides.

    Catalytic activityi

    UDP-N-acetyl-D-glucosamine + dolichyl phosphate = UMP + N-acetyl-D-glucosaminyl-diphosphodolichol.

    Pathwayi

    GO - Molecular functioni

    1. phospho-N-acetylmuramoyl-pentapeptide-transferase activity Source: InterPro
    2. transferase activity, transferring glycosyl groups Source: UniProtKB-KW
    3. UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity Source: UniProtKB

    GO - Biological processi

    1. cellular protein metabolic process Source: Reactome
    2. dolichol biosynthetic process Source: UniProtKB
    3. dolichol-linked oligosaccharide biosynthetic process Source: Reactome
    4. post-translational protein modification Source: Reactome
    5. protein N-linked glycosylation Source: UniProtKB
    6. protein N-linked glycosylation via asparagine Source: Reactome
    7. protein oligomerization Source: UniProtKB
    8. UDP-N-acetylglucosamine metabolic process Source: Ensembl

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Enzyme and pathway databases

    ReactomeiREACT_22433. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.
    UniPathwayiUPA00378.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase (EC:2.7.8.15)
    Alternative name(s):
    GlcNAc-1-P transferase
    Short name:
    G1PT
    Short name:
    GPT
    N-acetylglucosamine-1-phosphate transferase
    Gene namesi
    Name:DPAGT1
    Synonyms:DPAGT2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:2995. DPAGT1.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: UniProtKB
    2. integral component of endoplasmic reticulum membrane Source: UniProtKB
    3. integral component of membrane Source: UniProtKB
    4. intracellular membrane-bounded organelle Source: UniProtKB
    5. membrane Source: UniProtKB

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Congenital disorder of glycosylation 1J (CDG1J) [MIM:608093]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti170 – 1701Y → C in CDG1J. 1 Publication
    Corresponds to variant rs28934876 [ dbSNP | Ensembl ].
    VAR_017243
    Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2) [MIM:614750]: A congenital myasthenic syndrome characterized by muscle weakness mostly affecting proximal limb muscles, minimal involvement of facial, ocular and bulbar muscles, and tubular aggregates present on muscle biopsy. Symptoms include difficulty walking and frequent falls. Younger patients show hypotonia and poor head control. Neurophysiological features indicate a disorder of neuromuscular transmission on electromyography.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti108 – 1081M → I in CMSTA2. 1 Publication
    VAR_068810
    Natural varianti117 – 1171V → I in CMSTA2. 1 Publication
    VAR_068811
    Natural varianti120 – 1201L → M in CMSTA2. 1 Publication
    VAR_068812
    Natural varianti160 – 1601G → S in CMSTA2. 1 Publication
    VAR_068813
    Natural varianti192 – 1921G → S in CMSTA2. 1 Publication
    VAR_068814
    Natural varianti264 – 2641V → G in CMSTA2. 1 Publication
    VAR_068815

    Keywords - Diseasei

    Congenital disorder of glycosylation, Congenital myasthenic syndrome, Disease mutation

    Organism-specific databases

    MIMi608093. phenotype.
    614750. phenotype.
    Orphaneti353327. Congenital myasthenic syndromes with glycosylation defect.
    86309. DPAGT1-CDG.
    PharmGKBiPA27460.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 408408UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferasePRO_0000108761Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi146 – 1461N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ9H3H5.
    PaxDbiQ9H3H5.
    PRIDEiQ9H3H5.

    PTM databases

    PhosphoSiteiQ9H3H5.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9H3H5.
    BgeeiQ9H3H5.
    CleanExiHS_DPAGT1.
    GenevestigatoriQ9H3H5.

    Organism-specific databases

    HPAiHPA053878.

    Interactioni

    Protein-protein interaction databases

    BioGridi108133. 4 interactions.
    IntActiQ9H3H5. 1 interaction.
    STRINGi9606.ENSP00000346142.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H3H5.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 66LumenalSequence Analysis
    Topological domaini33 – 5725CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini80 – 9415LumenalSequence AnalysisAdd
    BLAST
    Topological domaini115 – 12511CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini146 – 16419LumenalSequence AnalysisAdd
    BLAST
    Topological domaini185 – 19410CytoplasmicSequence Analysis
    Topological domaini212 – 22110LumenalSequence Analysis
    Topological domaini241 – 25212CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini270 – 2745LumenalSequence Analysis
    Topological domaini295 – 37884CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini398 – 40811LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei7 – 3226HelicalSequence AnalysisAdd
    BLAST
    Transmembranei58 – 7922HelicalSequence AnalysisAdd
    BLAST
    Transmembranei95 – 11420HelicalSequence AnalysisAdd
    BLAST
    Transmembranei126 – 14520HelicalSequence AnalysisAdd
    BLAST
    Transmembranei165 – 18420HelicalSequence AnalysisAdd
    BLAST
    Transmembranei195 – 21117HelicalSequence AnalysisAdd
    BLAST
    Transmembranei222 – 24019HelicalSequence AnalysisAdd
    BLAST
    Transmembranei253 – 26917HelicalSequence AnalysisAdd
    BLAST
    Transmembranei275 – 29420HelicalSequence AnalysisAdd
    BLAST
    Transmembranei379 – 39719HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi67 – 7913Dolichol recognitionAdd
    BLAST
    Motifi222 – 23413Dolichol recognitionAdd
    BLAST

    Sequence similaritiesi

    Belongs to the glycosyltransferase 4 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0472.
    HOGENOMiHOG000163915.
    HOVERGENiHBG000846.
    InParanoidiQ9H3H5.
    KOiK01001.
    OMAiIHERNLT.
    OrthoDBiEOG73804W.
    PhylomeDBiQ9H3H5.
    TreeFamiTF313734.

    Family and domain databases

    InterProiIPR000715. Glycosyl_transferase_4.
    [Graphical view]
    PfamiPF00953. Glycos_transf_4. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9H3H5-1) [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

    MWAFSELPMP LLINLIVSLL GFVATVTLIP AFRGHFIAAR LCGQDLNKTS    50
    RQQIPESQGV ISGAVFLIIL FCFIPFPFLN CFVKEQCKAF PHHEFVALIG 100
    ALLAICCMIF LGFADDVLNL RWRHKLLLPT AASLPLLMVY FTNFGNTTIV 150
    VPKPFRPILG LHLDLGILYY VYMGLLAVFC TNAINILAGI NGLEAGQSLV 200
    ISASIIVFNL VELEGDCRDD HVFSLYFMIP FFFTTLGLLY HNWYPSRVFV 250
    GDTFCYFAGM TFAVVGILGH FSKTMLLFFM PQVFNFLYSL PQLLHIIPCP 300
    RHRIPRLNIK TGKLEMSYSK FKTKSLSFLG TFILKVAESL QLVTVHQSET 350
    EDGEFTECNN MTLINLLLKV LGPIHERNLT LLLLLLQILG SAITFSIRYQ 400
    LVRLFYDV 408
    Length:408
    Mass (Da):46,090
    Last modified:August 29, 2001 - v2
    Checksum:i0AE10EFE55E7B9E0
    GO
    Isoform 2 (identifier: Q9H3H5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-8: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:400
    Mass (Da):45,128
    Checksum:i54D3A9DCCCA14F6B
    GO
    Isoform 3 (identifier: Q9H3H5-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-107: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:301
    Mass (Da):34,270
    Checksum:iC605449414F020C3
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti33 – 331R → L in CAB04787. (PubMed:9451016)Curated
    Sequence conflicti129 – 1291P → H in AAG43168. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti9 – 91M → I in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036422
    Natural varianti108 – 1081M → I in CMSTA2. 1 Publication
    VAR_068810
    Natural varianti117 – 1171V → I in CMSTA2. 1 Publication
    VAR_068811
    Natural varianti120 – 1201L → M in CMSTA2. 1 Publication
    VAR_068812
    Natural varianti160 – 1601G → S in CMSTA2. 1 Publication
    VAR_068813
    Natural varianti170 – 1701Y → C in CDG1J. 1 Publication
    Corresponds to variant rs28934876 [ dbSNP | Ensembl ].
    VAR_017243
    Natural varianti192 – 1921G → S in CMSTA2. 1 Publication
    VAR_068814
    Natural varianti264 – 2641V → G in CMSTA2. 1 Publication
    VAR_068815
    Natural varianti393 – 3931I → V.1 Publication
    Corresponds to variant rs643788 [ dbSNP | Ensembl ].
    VAR_011391

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 107107Missing in isoform 3. 1 PublicationVSP_008886Add
    BLAST
    Alternative sequencei1 – 88Missing in isoform 2. 1 PublicationVSP_001803

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z82022 mRNA. Translation: CAB04787.1.
    AF070443, AF069061 Genomic DNA. Translation: AAG43168.1.
    BT006802 mRNA. Translation: AAP35448.1.
    BC000325 mRNA. Translation: AAH00325.1.
    BC047771 mRNA. Translation: AAH47771.1.
    CCDSiCCDS8411.1. [Q9H3H5-1]
    RefSeqiNP_001373.2. NM_001382.3. [Q9H3H5-1]
    UniGeneiHs.524081.

    Genome annotation databases

    EnsembliENST00000354202; ENSP00000346142; ENSG00000172269. [Q9H3H5-1]
    ENST00000409993; ENSP00000386597; ENSG00000172269. [Q9H3H5-1]
    GeneIDi1798.
    KEGGihsa:1798.
    UCSCiuc001pvi.3. human. [Q9H3H5-1]

    Polymorphism databases

    DMDMi18202943.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    Functional Glycomics Gateway - GTase

    UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z82022 mRNA. Translation: CAB04787.1 .
    AF070443 , AF069061 Genomic DNA. Translation: AAG43168.1 .
    BT006802 mRNA. Translation: AAP35448.1 .
    BC000325 mRNA. Translation: AAH00325.1 .
    BC047771 mRNA. Translation: AAH47771.1 .
    CCDSi CCDS8411.1. [Q9H3H5-1 ]
    RefSeqi NP_001373.2. NM_001382.3. [Q9H3H5-1 ]
    UniGenei Hs.524081.

    3D structure databases

    ProteinModelPortali Q9H3H5.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108133. 4 interactions.
    IntActi Q9H3H5. 1 interaction.
    STRINGi 9606.ENSP00000346142.

    PTM databases

    PhosphoSitei Q9H3H5.

    Polymorphism databases

    DMDMi 18202943.

    Proteomic databases

    MaxQBi Q9H3H5.
    PaxDbi Q9H3H5.
    PRIDEi Q9H3H5.

    Protocols and materials databases

    DNASUi 1798.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000354202 ; ENSP00000346142 ; ENSG00000172269 . [Q9H3H5-1 ]
    ENST00000409993 ; ENSP00000386597 ; ENSG00000172269 . [Q9H3H5-1 ]
    GeneIDi 1798.
    KEGGi hsa:1798.
    UCSCi uc001pvi.3. human. [Q9H3H5-1 ]

    Organism-specific databases

    CTDi 1798.
    GeneCardsi GC11M119001.
    GeneReviewsi DPAGT1.
    H-InvDB HIX0019316.
    HGNCi HGNC:2995. DPAGT1.
    HPAi HPA053878.
    MIMi 191350. gene.
    608093. phenotype.
    614750. phenotype.
    neXtProti NX_Q9H3H5.
    Orphaneti 353327. Congenital myasthenic syndromes with glycosylation defect.
    86309. DPAGT1-CDG.
    PharmGKBi PA27460.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0472.
    HOGENOMi HOG000163915.
    HOVERGENi HBG000846.
    InParanoidi Q9H3H5.
    KOi K01001.
    OMAi IHERNLT.
    OrthoDBi EOG73804W.
    PhylomeDBi Q9H3H5.
    TreeFami TF313734.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .
    Reactomei REACT_22433. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.

    Miscellaneous databases

    GeneWikii DPAGT1.
    GenomeRNAii 1798.
    NextBioi 7325.
    PROi Q9H3H5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9H3H5.
    Bgeei Q9H3H5.
    CleanExi HS_DPAGT1.
    Genevestigatori Q9H3H5.

    Family and domain databases

    InterProi IPR000715. Glycosyl_transferase_4.
    [Graphical view ]
    Pfami PF00953. Glycos_transf_4. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and functional expression of the human GlcNAc-1-P transferase, the enzyme for the committed step of the dolichol cycle, by heterologous complementation in Saccharomyces cerevisiae."
      Eckert V., Blank M., Mazhari-Tabrizi R., Mumberg D., Funk M., Schwarz R.T.
      Glycobiology 8:77-85(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
      Tissue: Lung.
    2. "Putative genomic sequence of GlcNAc-1-P transferase on chromosome 11q23."
      Dagnino F., Regis S., Filocamo M., Gatti R.
      Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
    3. "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 (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    4. "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] (ISOFORMS 1 AND 3), VARIANT VAL-393.
      Tissue: Lung.
    5. "Deficiency of UDP-GlcNAc:dolichol phosphate N-acetylglucosamine-1 phosphate transferase (DPAGT1) causes a novel congenital disorder of glycosylation type Ij."
      Wu X., Rush J.S., Karaoglu D., Krasnewich D., Lubinsky M.S., Waechter C.J., Gilmore R., Freeze H.H.
      Hum. Mutat. 22:144-150(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CDG1J CYS-170.
    6. Cited for: VARIANT [LARGE SCALE ANALYSIS] ILE-9.
    7. Cited for: VARIANTS CMSTA2 ILE-108; ILE-117; MET-120; SER-160; SER-192 AND GLY-264.

    Entry informationi

    Entry nameiGPT_HUMAN
    AccessioniPrimary (citable) accession number: Q9H3H5
    Secondary accession number(s): O15216, Q86WV9, Q9BWE6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 29, 2001
    Last sequence update: August 29, 2001
    Last modified: October 1, 2014
    This is version 133 of the entry and version 2 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 11
      Human chromosome 11: 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