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Protein

Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1

Gene

POMGNT1

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

Functioni

Participates in O-mannosyl glycosylation. May be responsible for the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins. Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity.1 Publication

Catalytic activityi

UDP-N-acetyl-alpha-D-glucosamine + O-alpha-D-mannosylprotein = UDP + N-acetyl-beta-D-glucosaminyl-(1->2)-O-alpha-D-mannosylprotein.1 Publication

Cofactori

Kineticsi

  1. KM=1.85 mM for mannosylpeptide2 Publications
  2. KM=0.73 mM for UDP-GlcNAc2 Publications
  3. KM=30 mM for Man(alpha1-)O-benzyl2 Publications
  4. KM=12 mM for CYA[Man(alpha1-)O-T]AV2 Publications

    pH dependencei

    Optimum pH is 6.0.2 Publications

    Pathway:iprotein glycosylation

    This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
    View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

    GO - Molecular functioni

    GO - Biological processi

    • protein O-linked glycosylation Source: MGI
    Complete GO annotation...

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Keywords - Ligandi

    Manganese

    Enzyme and pathway databases

    UniPathwayiUPA00378.

    Protein family/group databases

    CAZyiGT13. Glycosyltransferase Family 13.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (EC:2.4.1.-)
    Short name:
    POMGnT1
    Alternative name(s):
    UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2
    Short name:
    GnT I.2
    Gene namesi
    Name:POMGNT1
    Synonyms:MGAT1.2
    ORF Names:UNQ746/PRO1475
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640 Componenti: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:19139. POMGNT1.

    Subcellular locationi

    Topology

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 3737CytoplasmicSequence AnalysisAdd
    BLAST
    Transmembranei38 – 5821Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST
    Topological domaini59 – 660602LumenalSequence AnalysisAdd
    BLAST

    GO - Cellular componenti

    Complete GO annotation...

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)6 Publications

    The disease is caused by mutations affecting the gene represented in this entry.

    Disease descriptionAn autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, cobblestone lissencephaly, and cerebellar and pontine hypoplasia. Patients present severe congenital myopia, congenital glaucoma, pallor of the optic disks, retinal hypoplasia, mental retardation, hydrocephalus, abnormal electroencephalograms, generalized muscle weakness and myoclonic jerks. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.

    See also OMIM:253280
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti176 – 1761T → P in MDDGA3. 1 Publication
    VAR_065021
    Natural varianti198 – 1981S → R in MDDGA3. 1 Publication
    VAR_065022
    Natural varianti223 – 2231E → K in MDDGA3; specific activity abolished in the membrane bound form but not the soluble form. 3 Publications
    VAR_023101
    Natural varianti265 – 2651R → H in MDDGA3; found on the same allele as Q-311; unknown pathological significance. 1 Publication
    VAR_023102
    Natural varianti269 – 2691C → Y in MDDGA3; specific activity abolished of the membrane bound form but not the soluble form. 3 Publications
    VAR_023103
    Natural varianti311 – 3111R → Q in MDDGA3 and MDDGB3. 2 Publications
    VAR_023104
    Natural varianti367 – 3671R → H in MDDGA3. 1 Publication
    VAR_065023
    Natural varianti425 – 4251W → S in MDDGA3. 1 Publication
    VAR_023105
    Natural varianti427 – 4271D → H in MDDGA3. 1 Publication
    VAR_065024
    Natural varianti442 – 4421R → C in MDDGA3. 1 Publication
    Corresponds to variant rs28940869 [ dbSNP | Ensembl ].
    VAR_023106
    Natural varianti490 – 4901C → Y in MDDGA3 and MDDGB3. 3 Publications
    VAR_023107
    Natural varianti493 – 4931P → R in MDDGA3; specific activity abolished. 2 Publications
    Corresponds to variant rs28942068 [ dbSNP | Ensembl ].
    VAR_023108
    Natural varianti550 – 5501S → N in MDDGA3. 1 Publication
    VAR_023109
    Muscular dystrophy-dystroglycanopathy congenital with mental retardation B3 (MDDGB3)3 Publications

    The disease is caused by mutations affecting the gene represented in this entry.

    Disease descriptionAn autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. Clinical features include mental retardation, white matter changes, cerebellar cysts, pontine hypoplasia, myopia, optic atrophy, decreased alpha-dystroglycan on muscle biopsy and increased serum creatine kinase.

    See also OMIM:613151
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti311 – 3111R → Q in MDDGA3 and MDDGB3. 2 Publications
    VAR_023104
    Natural varianti490 – 4901C → Y in MDDGA3 and MDDGB3. 3 Publications
    VAR_023107
    Natural varianti605 – 6051R → P in MDDGB3. 1 Publication
    VAR_065026
    Muscular dystrophy-dystroglycanopathy limb-girdle C3 (MDDGC3)1 Publication

    The disease is caused by mutations affecting the gene represented in this entry.

    Disease descriptionA rare form of limb-girdle muscular dystrophy with normal cognition. Muscle biopsy shows dystrophic changes with variable staining for glycosylated alpha-dystroglycan.

    See also OMIM:613157
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti556 – 5561D → N in MDDGC3; normal enzyme activity but altered kinetic properties. 1 Publication
    Corresponds to variant rs74374973 [ dbSNP | Ensembl ].
    VAR_065025

    Keywords - Diseasei

    Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy, Limb-girdle muscular dystrophy, Lissencephaly

    Organism-specific databases

    MIMi253280. phenotype.
    613151. phenotype.
    613157. phenotype.
    Orphaneti206564. Autosomal recessive limb-girdle muscular dystrophy type 2O.
    370959. Congenital muscular dystrophy with cerebellar involvement.
    588. Muscle-eye-brain disease.
    899. Walker-Warburg syndrome.
    PharmGKBiPA142671161.

    Polymorphism and mutation databases

    BioMutaiPOMGNT1.
    DMDMi311033411.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 660660Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1PRO_0000191390Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Cross-linki537 – 537Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
    Cross-linki538 – 538Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication

    Keywords - PTMi

    Isopeptide bond, Ubl conjugation

    Proteomic databases

    MaxQBiQ8WZA1.
    PaxDbiQ8WZA1.
    PRIDEiQ8WZA1.

    PTM databases

    PhosphoSiteiQ8WZA1.

    Expressioni

    Tissue specificityi

    Constitutively expressed. An additional weaker band is also detected in spinal cord, lymph node, and trachea. Expressed especially in astrocytes. Also expressed in immature and mature neurons.2 Publications

    Gene expression databases

    BgeeiQ8WZA1.
    CleanExiHS_POMGNT1.
    ExpressionAtlasiQ8WZA1. baseline and differential.
    GenevisibleiQ8WZA1. HS.

    Organism-specific databases

    HPAiHPA044518.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    LNX1Q8TBB13EBI-3912424,EBI-739832

    Protein-protein interaction databases

    BioGridi120763. 14 interactions.
    IntActiQ8WZA1. 6 interactions.
    STRINGi9606.ENSP00000361052.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8WZA1.
    SMRiQ8WZA1. Positions 128-217, 302-542.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi263 – 2675Poly-Arg

    Domaini

    Amino acid residues between 299-311 are important for both protein expression and enzymatic activity. The minimal catalytic domain is located between positions 299-651. Single amino acid substitutions in the stem domain from MEB patients abolished the activity of the membrane-bound form but not the soluble form. This suggests that the stem domain of the soluble form is unnecessary for activity, but that some amino acids play a crucial role in the membrane-bound form.

    Sequence similaritiesi

    Belongs to the glycosyltransferase 13 family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG148227.
    GeneTreeiENSGT00530000063632.
    HOGENOMiHOG000231121.
    HOVERGENiHBG055279.
    InParanoidiQ8WZA1.
    OMAiNHFLVVG.
    OrthoDBiEOG786H2N.
    PhylomeDBiQ8WZA1.
    TreeFamiTF320555.

    Family and domain databases

    Gene3Di3.90.550.10. 1 hit.
    InterProiIPR004139. Glyco_trans_13.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view]
    PANTHERiPTHR10468. PTHR10468. 1 hit.
    PfamiPF03071. GNT-I. 1 hit.
    [Graphical view]
    SUPFAMiSSF53448. SSF53448. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

    Isoform 1 (identifier: Q8WZA1-1) [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
    MDDWKPSPLI KPFGARKKRS WYLTWKYKLT NQRALRRFCQ TGAVLFLLVT
    60 70 80 90 100
    VIVNIKLILD TRRAISEANE DPEPEQDYDE ALGRLEPPRR RGSGPRRVLD
    110 120 130 140 150
    VEVYSSRSKV YVAVDGTTVL EDEAREQGRG IHVIVLNQAT GHVMAKRVFD
    160 170 180 190 200
    TYSPHEDEAM VLFLNMVAPG RVLICTVKDE GSFHLKDTAK ALLRSLGSQA
    210 220 230 240 250
    GPALGWRDTW AFVGRKGGPV FGEKHSKSPA LSSWGDPVLL KTDVPLSSAE
    260 270 280 290 300
    EAECHWADTE LNRRRRRFCS KVEGYGSVCS CKDPTPIEFS PDPLPDNKVL
    310 320 330 340 350
    NVPVAVIAGN RPNYLYRMLR SLLSAQGVSP QMITVFIDGY YEEPMDVVAL
    360 370 380 390 400
    FGLRGIQHTP ISIKNARVSQ HYKASLTATF NLFPEAKFAV VLEEDLDIAV
    410 420 430 440 450
    DFFSFLSQSI HLLEEDDSLY CISAWNDQGY EHTAEDPALL YRVETMPGLG
    460 470 480 490 500
    WVLRRSLYKE ELEPKWPTPE KLWDWDMWMR MPEQRRGREC IIPDVSRSYH
    510 520 530 540 550
    FGIVGLNMNG YFHEAYFKKH KFNTVPGVQL RNVDSLKKEA YEVEVHRLLS
    560 570 580 590 600
    EAEVLDHSKN PCEDSFLPDT EGHTYVAFIR MEKDDDFTTW TQLAKCLHIW
    610 620 630 640 650
    DLDVRGNHRG LWRLFRKKNH FLMVGVPASP YSVKKPPSVT PIFLEPPPKE
    660
    EGAPGAPEQT
    Length:660
    Mass (Da):75,252
    Last modified:November 2, 2010 - v2
    Checksum:iC58D0E543E033F17
    GO
    Isoform 2 (identifier: Q8WZA1-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         624-660: VGVPASPYSV...EGAPGAPEQT → SEEATLSHPN...LLFVQISKAG

    Note: No experimental confirmation available.Curated
    Show »
    Length:748
    Mass (Da):84,700
    Checksum:iB88BFD957237FEFD
    GO

    Sequence cautioni

    The sequence BAB14207.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti636 – 6361P → L in BAA91053 (PubMed:12975309).Curated
    Isoform 2 (identifier: Q8WZA1-2)
    Sequence conflicti636 – 6361G → K in AK056186 (PubMed:14702039).Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti176 – 1761T → P in MDDGA3. 1 Publication
    VAR_065021
    Natural varianti198 – 1981S → R in MDDGA3. 1 Publication
    VAR_065022
    Natural varianti223 – 2231E → K in MDDGA3; specific activity abolished in the membrane bound form but not the soluble form. 3 Publications
    VAR_023101
    Natural varianti250 – 2501E → V.1 Publication
    Corresponds to variant rs17855359 [ dbSNP | Ensembl ].
    VAR_030645
    Natural varianti265 – 2651R → H in MDDGA3; found on the same allele as Q-311; unknown pathological significance. 1 Publication
    VAR_023102
    Natural varianti269 – 2691C → Y in MDDGA3; specific activity abolished of the membrane bound form but not the soluble form. 3 Publications
    VAR_023103
    Natural varianti311 – 3111R → Q in MDDGA3 and MDDGB3. 2 Publications
    VAR_023104
    Natural varianti367 – 3671R → H in MDDGA3. 1 Publication
    VAR_065023
    Natural varianti425 – 4251W → S in MDDGA3. 1 Publication
    VAR_023105
    Natural varianti427 – 4271D → H in MDDGA3. 1 Publication
    VAR_065024
    Natural varianti442 – 4421R → C in MDDGA3. 1 Publication
    Corresponds to variant rs28940869 [ dbSNP | Ensembl ].
    VAR_023106
    Natural varianti490 – 4901C → Y in MDDGA3 and MDDGB3. 3 Publications
    VAR_023107
    Natural varianti493 – 4931P → R in MDDGA3; specific activity abolished. 2 Publications
    Corresponds to variant rs28942068 [ dbSNP | Ensembl ].
    VAR_023108
    Natural varianti504 – 5041V → I.
    Corresponds to variant rs17102066 [ dbSNP | Ensembl ].
    VAR_030646
    Natural varianti550 – 5501S → N in MDDGA3. 1 Publication
    VAR_023109
    Natural varianti556 – 5561D → N in MDDGC3; normal enzyme activity but altered kinetic properties. 1 Publication
    Corresponds to variant rs74374973 [ dbSNP | Ensembl ].
    VAR_065025
    Natural varianti605 – 6051R → P in MDDGB3. 1 Publication
    VAR_065026
    Natural varianti623 – 6231M → V.7 Publications
    Corresponds to variant rs6659553 [ dbSNP | Ensembl ].
    VAR_023110

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei624 – 66037VGVPA…APEQT → SEEATLSHPNFPGATPKGGG SPRSPRTDMRPPPGPCGAGP GSESNLFIDCPEGLENRPNL EGLDFFLGWNAALRVGLALT QETAVPNPWTGPAGAHMLTQ THSETLRHWTRPPLSLLFVQ ISKAG in isoform 2. 1 PublicationVSP_054029Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AB057356 mRNA. Translation: BAB71960.1.
    AY358592 mRNA. Translation: AAQ88955.1.
    AK000284 mRNA. Translation: BAA91053.1.
    AK022727 mRNA. Translation: BAB14207.1. Different initiation.
    AK056186 mRNA. No translation available.
    AL672043 Genomic DNA. Translation: CAH72470.1.
    CH471059 Genomic DNA. Translation: EAX06932.1.
    CH471059 Genomic DNA. Translation: EAX06933.1.
    CH471059 Genomic DNA. Translation: EAX06935.1.
    BC001471 mRNA. Translation: AAH01471.1.
    AF250859 mRNA. Translation: AAF71270.2.
    CCDSiCCDS531.1. [Q8WZA1-1]
    CCDS57995.1. [Q8WZA1-2]
    RefSeqiNP_060209.3. NM_017739.3.
    XP_006710819.1. XM_006710756.1. [Q8WZA1-2]
    UniGeneiHs.525134.

    Genome annotation databases

    EnsembliENST00000371984; ENSP00000361052; ENSG00000085998.
    ENST00000371992; ENSP00000361060; ENSG00000085998. [Q8WZA1-2]
    GeneIDi55624.
    UCSCiuc001cpe.3. human. [Q8WZA1-1]
    uc001cpg.3. human.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    Functional Glycomics Gateway - GTase

    Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AB057356 mRNA. Translation: BAB71960.1.
    AY358592 mRNA. Translation: AAQ88955.1.
    AK000284 mRNA. Translation: BAA91053.1.
    AK022727 mRNA. Translation: BAB14207.1. Different initiation.
    AK056186 mRNA. No translation available.
    AL672043 Genomic DNA. Translation: CAH72470.1.
    CH471059 Genomic DNA. Translation: EAX06932.1.
    CH471059 Genomic DNA. Translation: EAX06933.1.
    CH471059 Genomic DNA. Translation: EAX06935.1.
    BC001471 mRNA. Translation: AAH01471.1.
    AF250859 mRNA. Translation: AAF71270.2.
    CCDSiCCDS531.1. [Q8WZA1-1]
    CCDS57995.1. [Q8WZA1-2]
    RefSeqiNP_060209.3. NM_017739.3.
    XP_006710819.1. XM_006710756.1. [Q8WZA1-2]
    UniGeneiHs.525134.

    3D structure databases

    ProteinModelPortaliQ8WZA1.
    SMRiQ8WZA1. Positions 128-217, 302-542.
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi120763. 14 interactions.
    IntActiQ8WZA1. 6 interactions.
    STRINGi9606.ENSP00000361052.

    Chemistry

    ChEMBLiCHEMBL2321629.

    Protein family/group databases

    CAZyiGT13. Glycosyltransferase Family 13.

    PTM databases

    PhosphoSiteiQ8WZA1.

    Polymorphism and mutation databases

    BioMutaiPOMGNT1.
    DMDMi311033411.

    Proteomic databases

    MaxQBiQ8WZA1.
    PaxDbiQ8WZA1.
    PRIDEiQ8WZA1.

    Protocols and materials databases

    DNASUi55624.
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000371984; ENSP00000361052; ENSG00000085998.
    ENST00000371992; ENSP00000361060; ENSG00000085998. [Q8WZA1-2]
    GeneIDi55624.
    UCSCiuc001cpe.3. human. [Q8WZA1-1]
    uc001cpg.3. human.

    Organism-specific databases

    CTDi55624.
    GeneCardsiGC01M046654.
    GeneReviewsiPOMGNT1.
    HGNCiHGNC:19139. POMGNT1.
    HPAiHPA044518.
    MIMi253280. phenotype.
    606822. gene.
    613151. phenotype.
    613157. phenotype.
    neXtProtiNX_Q8WZA1.
    Orphaneti206564. Autosomal recessive limb-girdle muscular dystrophy type 2O.
    370959. Congenital muscular dystrophy with cerebellar involvement.
    588. Muscle-eye-brain disease.
    899. Walker-Warburg syndrome.
    PharmGKBiPA142671161.
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiNOG148227.
    GeneTreeiENSGT00530000063632.
    HOGENOMiHOG000231121.
    HOVERGENiHBG055279.
    InParanoidiQ8WZA1.
    OMAiNHFLVVG.
    OrthoDBiEOG786H2N.
    PhylomeDBiQ8WZA1.
    TreeFamiTF320555.

    Enzyme and pathway databases

    UniPathwayiUPA00378.

    Miscellaneous databases

    ChiTaRSiPOMGNT1. human.
    GeneWikiiPOMGNT1.
    GenomeRNAii55624.
    NextBioi60240.
    PROiQ8WZA1.
    SOURCEiSearch...

    Gene expression databases

    BgeeiQ8WZA1.
    CleanExiHS_POMGNT1.
    ExpressionAtlasiQ8WZA1. baseline and differential.
    GenevisibleiQ8WZA1. HS.

    Family and domain databases

    Gene3Di3.90.550.10. 1 hit.
    InterProiIPR004139. Glyco_trans_13.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view]
    PANTHERiPTHR10468. PTHR10468. 1 hit.
    PfamiPF03071. GNT-I. 1 hit.
    [Graphical view]
    SUPFAMiSSF53448. SSF53448. 1 hit.
    ProtoNetiSearch...

    Publicationsi

    « Hide 'large scale' publications
    1. "Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1."
      Yoshida A., Kobayashi K., Manya H., Taniguchi K., Kano H., Mizuno M., Inazu T., Mitsuhashi H., Takahashi S., Takeuchi M., Herrmann R., Straub V., Talim B., Voit T., Topaloglu H., Toda T., Endo T.
      Dev. Cell 1:717-724(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, BIOPHYSICOCHEMICAL PROPERTIES, VARIANTS MDDGA3 ARG-493 AND ASN-550, VARIANT VAL-623, FUNCTION, CATALYTIC ACTIVITY.
      Tissue: Brain.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS MDDGA3 LYS-223 AND TYR-269, VARIANT VAL-623.
      Tissue: Brain.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT VAL-623.
    4. "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 AND 2), VARIANT VAL-623.
    5. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT VAL-623.
    7. "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 1), VARIANTS VAL-250 AND VAL-623.
      Tissue: Placenta.
    8. "Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I."
      Zhang W., Betel D., Schachter H.
      Biochem. J. 361:153-162(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 84-660 (ISOFORM 1), TISSUE SPECIFICITY, BIOPHYSICOCHEMICAL PROPERTIES, VARIANT VAL-623.
      Tissue: Brain.
    9. "Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry."
      Denis N.J., Vasilescu J., Lambert J.-P., Smith J.C., Figeys D.
      Proteomics 7:868-874(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: UBIQUITINATION [LARGE SCALE ANALYSIS] AT LYS-537 AND LYS-538.
      Tissue: Mammary cancer.
    10. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
      Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
      J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Liver.
    11. "Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease."
      Manya H., Sakai K., Kobayashi K., Taniguchi K., Kawakita M., Toda T., Endo T.
      Biochem. Biophys. Res. Commun. 306:93-97(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANTS MDDGA3 LYS-223; TYR-269 AND ARG-493.
    12. "Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1."
      Akasaka-Manya K., Manya H., Kobayashi K., Toda T., Endo T.
      Biochem. Biophys. Res. Commun. 320:39-44(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION OF CATALYTIC DOMAIN, CHARACTERIZATION OF VARIANTS MDDGA3 LYS-223 AND TYR-269.
    13. "POMGnT1 gene alterations in a family with neurological abnormalities."
      Vervoort V.S., Holden K.R., Ukadike K.C., Collins J.S., Saul R.A., Srivastava A.K.
      Ann. Neurol. 56:143-148(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MDDGA3 HIS-265; GLN-311 AND CYS-442.
    14. Cited for: VARIANTS MDDGA3 SER-425 AND TYR-490.
    15. "POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum."
      Biancheri R., Bertini E., Falace A., Pedemonte M., Rossi A., D'Amico A., Scapolan S., Bergamino L., Petrini S., Cassandrini D., Broda P., Manfredi M., Zara F., Santorelli F.M., Minetti C., Bruno C.
      Arch. Neurol. 63:1491-1495(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MDDGA3 ARG-198 AND TYR-490, VARIANT MDDGB3 GLN-311.
    16. Cited for: VARIANTS MDDGA3 PRO-176; HIS-367 AND HIS-427, VARIANT MDDGB3 TYR-490.
    17. Cited for: VARIANT MDDGC3 ASN-556, CHARACTERIZATION OF VARIANT MDDGC3 ASN-556.
    18. Cited for: VARIANT MDDGB3 PRO-605.

    Entry informationi

    Entry nameiPMGT1_HUMAN
    AccessioniPrimary (citable) accession number: Q8WZA1
    Secondary accession number(s): D3DQ16
    , Q5VST2, Q5VST3, Q9BV55, Q9H9L8, Q9NXF9, Q9NYF7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 16, 2005
    Last sequence update: November 2, 2010
    Last modified: July 22, 2015
    This is version 121 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 1
      Human chromosome 1: 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

    Similar proteinsi

    Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
    100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
    90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
    50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.