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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: -Experimental evidence at protein leveli

Functioni

Participates in O-mannosyl glycosylation by catalyzing the addition of N-acetylglucosamine to O-linked mannose on glycoproteins (PubMed:11709191, PubMed:27493216). Catalyzes the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins, providing the necessary basis for the addition of further carbohydrate moieties (PubMed:11709191, PubMed:27493216). Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity.5 Publications

Catalytic activityi

UDP-N-acetyl-alpha-D-glucosamine + O-alpha-D-mannosylprotein = UDP + N-acetyl-beta-D-glucosaminyl-(1->2)-O-alpha-D-mannosylprotein.6 Publications

Cofactori

Mn2+1 Publication1 PublicationNote: The manganese ion interacts primarily with the substrate UDP-N-acetylglucosamine.1 Publication

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

    Pathwayi: protein glycosylation

    This protein is involved in the pathway protein glycosylation, which is part of Protein modification.5 Publications
    View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Binding sitei129Carbohydrate1 Publication1
    Binding sitei179Carbohydrate1 Publication1
    Binding sitei207Carbohydrate1 Publication1
    Binding sitei338UDP-GlcNAcCombined sources1 Publication1
    Binding sitei371UDP-GlcNAcCombined sources1 Publication1
    Metal bindingi395ManganeseCombined sources1 Publication1
    Metal bindingi500ManganeseCombined sources1 Publication1

    Regions

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Nucleotide bindingi307 – 311UDP-GlcNAcCombined sources1 Publication5
    Nucleotide bindingi394 – 395UDP-GlcNAcCombined sources1 Publication2
    Nucleotide bindingi506 – 507UDP-GlcNAcCombined sources1 Publication2

    GO - Molecular functioni

    GO - Biological processi

    Keywordsi

    Molecular functionGlycosyltransferase, Transferase
    LigandManganese, Metal-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:ENSG00000085998-MONOMER
    ReactomeiR-HSA-5083628 Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3
    R-HSA-5173105 O-linked glycosylation
    SIGNORiQ8WZA1
    UniPathwayi
    UPA00378

    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.-5 Publications)
    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
    Proteomesi
    • UP000005640 Componenti: Chromosome 1

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000085998.13
    HGNCiHGNC:19139 POMGNT1
    MIMi606822 gene
    neXtProtiNX_Q8WZA1

    Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

    Topology

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Topological domaini1 – 37CytoplasmicSequence analysisAdd BLAST37
    Transmembranei38 – 58Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
    Topological domaini59 – 660Lumenal1 PublicationAdd BLAST602

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)8 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)DescriptionActionsGraphical viewLength
    Natural variantiVAR_065021176T → P in MDDGA3. 1 PublicationCorresponds to variant dbSNP:rs386834030EnsemblClinVar.1
    Natural variantiVAR_065022198S → R in MDDGA3. 1 PublicationCorresponds to variant dbSNP:rs386834032EnsemblClinVar.1
    Natural variantiVAR_023101223E → K in MDDGA3; specific activity abolished in the membrane bound form but not the soluble form. 3 PublicationsCorresponds to variant dbSNP:rs386834036EnsemblClinVar.1
    Natural variantiVAR_023102265R → H in MDDGA3; found on the same allele as Q-311; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs386834010EnsemblClinVar.1
    Natural variantiVAR_023103269C → Y in MDDGA3; specific activity abolished of the membrane bound form but not the soluble form. 3 PublicationsCorresponds to variant dbSNP:rs386834037EnsemblClinVar.1
    Natural variantiVAR_065023367R → H in MDDGA3. 1 PublicationCorresponds to variant dbSNP:rs762972459Ensembl.1
    Natural variantiVAR_023105425W → S in MDDGA3. 1 PublicationCorresponds to variant dbSNP:rs386834011EnsemblClinVar.1
    Natural variantiVAR_065024427D → H in MDDGA3. 1 Publication1
    Natural variantiVAR_023106442R → C in MDDGA3. 1 PublicationCorresponds to variant dbSNP:rs28940869EnsemblClinVar.1
    Natural variantiVAR_023108493P → R in MDDGA3; specific activity abolished. 2 PublicationsCorresponds to variant dbSNP:rs28942068EnsemblClinVar.1
    Natural variantiVAR_023109550S → N in MDDGA3. 1 PublicationCorresponds to variant dbSNP:rs193919335EnsemblClinVar.1
    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)DescriptionActionsGraphical viewLength
    Natural variantiVAR_065026605R → P in MDDGB3. 1 PublicationCorresponds to variant dbSNP:rs267606962EnsemblClinVar.1
    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)DescriptionActionsGraphical viewLength
    Natural variantiVAR_065025556D → N in MDDGC3; normal enzyme activity but altered kinetic properties. 1 PublicationCorresponds to variant dbSNP:rs74374973EnsemblClinVar.1
    Retinitis pigmentosa 76 (RP76)2 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP76 inheritance is autosomal recessive.
    See also OMIM:617123
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_077054120L → R in RP76; no effect on protein abundance; reduced acetylglucosaminyltransferase activity. 1 PublicationCorresponds to variant dbSNP:rs886037949EnsemblClinVar.1
    Natural variantiVAR_076524156E → K in RP76; reduced acetylglucosaminyltransferase activity. 1 PublicationCorresponds to variant dbSNP:rs886037947EnsemblClinVar.1
    Natural variantiVAR_076525287I → S in RP76; reduced acetylglucosaminyltransferase activity. 1 PublicationCorresponds to variant dbSNP:rs200863680EnsemblClinVar.1
    Natural variantiVAR_076526502G → A in RP76. 1 PublicationCorresponds to variant dbSNP:rs886037948EnsemblClinVar.1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Mutagenesisi1 – 65Missing : Gives rise to a soluble form. 1 PublicationAdd BLAST65
    Mutagenesisi129R → A: Decreased protein stability. Decreased enzyme activity. 1 Publication1
    Mutagenesisi179D → A: Moderately increased enzyme activity. Decreased affinity for N-acetylglucosamine. 1 Publication1
    Mutagenesisi207R → A: Decreased enzyme activity. Impairs protein stability. 1 Publication1
    Mutagenesisi473W → A: Abolishes in vitro enzyme activity; when associated with A-477. 1 Publication1
    Mutagenesisi474D → A: Nearly abolishes enzyme activity. 1 Publication1
    Mutagenesisi477M → A: Abolishes in vitro enzyme activity; when associated with A-473. 1 Publication1
    Mutagenesisi481M → A: Decreased enzyme activity. 1 Publication1
    Mutagenesisi507N → A: Abolishes enzyme activity. 1 Publication1
    Mutagenesisi600W → A: Abolishes enzyme activity. 1 Publication1

    Keywords - Diseasei

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

    Organism-specific databases

    DisGeNETi55624
    GeneReviewsiPOMGNT1
    MalaCardsiPOMGNT1
    MIMi253280 phenotype
    613151 phenotype
    613157 phenotype
    617123 phenotype
    OpenTargetsiENSG00000085998
    Orphaneti206564 Autosomal recessive limb-girdle muscular dystrophy type 2O
    370959 Congenital muscular dystrophy with cerebellar involvement
    588 Muscle-eye-brain disease
    791 Retinitis pigmentosa
    899 Walker-Warburg syndrome
    PharmGKBiPA142671161

    Chemistry databases

    ChEMBLiCHEMBL2321629

    Polymorphism and mutation databases

    BioMutaiPOMGNT1
    DMDMi311033411

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    ChainiPRO_00001913901 – 660Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1Add BLAST660

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Modified residuei7PhosphoserineCombined sources1
    Disulfide bondi254 ↔ 281Combined sources1 Publication
    Disulfide bondi269 ↔ 279Combined sources1 Publication
    Disulfide bondi421 ↔ 490Combined sources1 Publication
    Disulfide bondi562 ↔ 596Combined sources1 Publication

    Keywords - PTMi

    Disulfide bond, Phosphoprotein

    Proteomic databases

    EPDiQ8WZA1
    MaxQBiQ8WZA1
    PaxDbiQ8WZA1
    PeptideAtlasiQ8WZA1
    PRIDEiQ8WZA1
    ProteomicsDBi75242

    PTM databases

    iPTMnetiQ8WZA1
    PhosphoSitePlusiQ8WZA1
    SwissPalmiQ8WZA1

    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

    BgeeiENSG00000085998 Expressed in 214 organ(s), highest expression level in C1 segment of cervical spinal cord
    CleanExiHS_POMGNT1
    ExpressionAtlasiQ8WZA1 baseline and differential
    GenevisibleiQ8WZA1 HS

    Organism-specific databases

    HPAiHPA044518

    Interactioni

    Subunit structurei

    Interacts with DAG1 (via O-linked mannose moiety) (PubMed:27493216). Interacts (via transmembrane domain) with FKTN; the interaction is direct and is required for normal location in Golgi membranes (PubMed:17034757).2 Publications

    Binary interactionsi

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

    Protein-protein interaction databases

    BioGridi120763, 28 interactors
    IntActiQ8WZA1, 12 interactors
    STRINGi9606.ENSP00000361052

    Structurei

    Secondary structure

    1660
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

    ProteinModelPortaliQ8WZA1
    SMRiQ8WZA1
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Regioni92 – 288Carbohydrate-binding stem domain1 PublicationAdd BLAST197
    Regioni300 – 646Catalytic2 PublicationsAdd BLAST347
    Regioni473 – 481Interaction with O-glycosylated substrate glycoprotein1 Publication9
    Regioni506 – 512Interaction with O-glycosylated substrate glycoprotein1 Publication7
    Regioni600 – 605Interaction with O-glycosylated substrate glycoprotein1 Publication6

    Compositional bias

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Compositional biasi263 – 267Poly-Arg5

    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.1 Publication
    The stem domain mediates specific interaction with beta-linked N-acetylglucosamine moieties of O-glycosylated proteins. It also interacts with its product, N-acetyl-beta-D-glucosaminyl-(1->2)-O-alpha-D-mannosylprotein.1 Publication

    Sequence similaritiesi

    Belongs to the glycosyltransferase 13 family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiENOG410IFXX Eukaryota
    ENOG410YMAS LUCA
    GeneTreeiENSGT00530000063632
    HOGENOMiHOG000231121
    HOVERGENiHBG055279
    InParanoidiQ8WZA1
    KOiK09666
    OMAiDESLYCI
    OrthoDBiEOG091G00JT
    PhylomeDBiQ8WZA1
    TreeFamiTF320555

    Family and domain databases

    CDDicd13937 PANDER_GnT-1_2_like, 1 hit
    Gene3Di3.90.550.10, 1 hit
    InterProiView protein in InterPro
    IPR004139 Glyco_trans_13
    IPR039477 ILEI/PANDER_dom
    IPR029044 Nucleotide-diphossugar_trans
    IPR039474 POMGNT1_PANDER-like
    PANTHERiPTHR10468 PTHR10468, 1 hit
    PfamiView protein in Pfam
    PF03071 GNT-I, 1 hit
    PF15711 ILEI, 1 hit
    SUPFAMiSSF53448 SSF53448, 1 hit

    Sequences (2+)i

    Sequence statusi: Complete.

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

    This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

    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

    Computationally mapped potential isoform sequencesi

    There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    Q68CV6Q68CV6_HUMAN
    Protein O-linked-mannose beta-1,2-N...
    POMGNT1 DKFZp761B182
    200Annotation score:

    Sequence cautioni

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

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Sequence conflicti636P → L in BAA91053 (PubMed:12975309).Curated1
    Isoform 2 (identifier: Q8WZA1-2)
    Sequence conflicti636G → K in AK056186 (PubMed:14702039).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_077054120L → R in RP76; no effect on protein abundance; reduced acetylglucosaminyltransferase activity. 1 PublicationCorresponds to variant dbSNP:rs886037949EnsemblClinVar.1
    Natural variantiVAR_076524156E → K in RP76; reduced acetylglucosaminyltransferase activity. 1 PublicationCorresponds to variant dbSNP:rs886037947EnsemblClinVar.1
    Natural variantiVAR_065021176T → P in MDDGA3. 1 PublicationCorresponds to variant dbSNP:rs386834030EnsemblClinVar.1
    Natural variantiVAR_065022198S → R in MDDGA3. 1 PublicationCorresponds to variant dbSNP:rs386834032EnsemblClinVar.1
    Natural variantiVAR_023101223E → K in MDDGA3; specific activity abolished in the membrane bound form but not the soluble form. 3 PublicationsCorresponds to variant dbSNP:rs386834036EnsemblClinVar.1
    Natural variantiVAR_030645250E → V1 PublicationCorresponds to variant dbSNP:rs17855359Ensembl.1
    Natural variantiVAR_023102265R → H in MDDGA3; found on the same allele as Q-311; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs386834010EnsemblClinVar.1
    Natural variantiVAR_023103269C → Y in MDDGA3; specific activity abolished of the membrane bound form but not the soluble form. 3 PublicationsCorresponds to variant dbSNP:rs386834037EnsemblClinVar.1
    Natural variantiVAR_076525287I → S in RP76; reduced acetylglucosaminyltransferase activity. 1 PublicationCorresponds to variant dbSNP:rs200863680EnsemblClinVar.1
    Natural variantiVAR_023104311R → Q in MDDGA3 and MDDGB3. 2 PublicationsCorresponds to variant dbSNP:rs193919336EnsemblClinVar.1
    Natural variantiVAR_065023367R → H in MDDGA3. 1 PublicationCorresponds to variant dbSNP:rs762972459Ensembl.1
    Natural variantiVAR_023105425W → S in MDDGA3. 1 PublicationCorresponds to variant dbSNP:rs386834011EnsemblClinVar.1
    Natural variantiVAR_065024427D → H in MDDGA3. 1 Publication1
    Natural variantiVAR_023106442R → C in MDDGA3. 1 PublicationCorresponds to variant dbSNP:rs28940869EnsemblClinVar.1
    Natural variantiVAR_023107490C → Y in MDDGA3 and MDDGB3. 3 PublicationsCorresponds to variant dbSNP:rs267606960EnsemblClinVar.1
    Natural variantiVAR_023108493P → R in MDDGA3; specific activity abolished. 2 PublicationsCorresponds to variant dbSNP:rs28942068EnsemblClinVar.1
    Natural variantiVAR_076526502G → A in RP76. 1 PublicationCorresponds to variant dbSNP:rs886037948EnsemblClinVar.1
    Natural variantiVAR_030646504V → I. Corresponds to variant dbSNP:rs17102066EnsemblClinVar.1
    Natural variantiVAR_023109550S → N in MDDGA3. 1 PublicationCorresponds to variant dbSNP:rs193919335EnsemblClinVar.1
    Natural variantiVAR_065025556D → N in MDDGC3; normal enzyme activity but altered kinetic properties. 1 PublicationCorresponds to variant dbSNP:rs74374973EnsemblClinVar.1
    Natural variantiVAR_065026605R → P in MDDGB3. 1 PublicationCorresponds to variant dbSNP:rs267606962EnsemblClinVar.1
    Natural variantiVAR_023110623M → V7 PublicationsCorresponds to variant dbSNP:rs6659553Ensembl.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Alternative sequenceiVSP_054029624 – 660VGVPA…APEQT → SEEATLSHPNFPGATPKGGG SPRSPRTDMRPPPGPCGAGP GSESNLFIDCPEGLENRPNL EGLDFFLGWNAALRVGLALT QETAVPNPWTGPAGAHMLTQ THSETLRHWTRPPLSLLFVQ ISKAG in isoform 2. 1 PublicationAdd BLAST37

    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 No translation available.
    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]
    XP_016857179.1, XM_017001690.1 [Q8WZA1-1]
    UniGeneiHs.525134

    Genome annotation databases

    EnsembliENST00000371984; ENSP00000361052; ENSG00000085998 [Q8WZA1-1]
    ENST00000371992; ENSP00000361060; ENSG00000085998 [Q8WZA1-2]
    GeneIDi55624
    KEGGihsa:55624
    UCSCiuc001cpe.4 human [Q8WZA1-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Similar proteinsi

    Cross-referencesi

    Web resourcesi

    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 No translation available.
    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]
    XP_016857179.1, XM_017001690.1 [Q8WZA1-1]
    UniGeneiHs.525134

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    5GGFX-ray2.49A/B/C92-660[»]
    5GGGX-ray3.00A92-660[»]
    5GGIX-ray2.60A/B92-660[»]
    5GGJX-ray1.42A/B92-250[»]
    5GGKX-ray1.30A/B92-250[»]
    5GGLX-ray1.27A/B92-250[»]
    5GGNX-ray1.21A/B92-250[»]
    5GGOX-ray1.50A/B92-250[»]
    5GGPX-ray1.60A/B92-250[»]
    5XFCX-ray1.40A/B92-250[»]
    ProteinModelPortaliQ8WZA1
    SMRiQ8WZA1
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi120763, 28 interactors
    IntActiQ8WZA1, 12 interactors
    STRINGi9606.ENSP00000361052

    Chemistry databases

    ChEMBLiCHEMBL2321629

    Protein family/group databases

    CAZyiGT13 Glycosyltransferase Family 13

    PTM databases

    iPTMnetiQ8WZA1
    PhosphoSitePlusiQ8WZA1
    SwissPalmiQ8WZA1

    Polymorphism and mutation databases

    BioMutaiPOMGNT1
    DMDMi311033411

    Proteomic databases

    EPDiQ8WZA1
    MaxQBiQ8WZA1
    PaxDbiQ8WZA1
    PeptideAtlasiQ8WZA1
    PRIDEiQ8WZA1
    ProteomicsDBi75242

    Protocols and materials databases

    DNASUi55624
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000371984; ENSP00000361052; ENSG00000085998 [Q8WZA1-1]
    ENST00000371992; ENSP00000361060; ENSG00000085998 [Q8WZA1-2]
    GeneIDi55624
    KEGGihsa:55624
    UCSCiuc001cpe.4 human [Q8WZA1-1]

    Organism-specific databases

    CTDi55624
    DisGeNETi55624
    EuPathDBiHostDB:ENSG00000085998.13
    GeneCardsiPOMGNT1
    GeneReviewsiPOMGNT1
    HGNCiHGNC:19139 POMGNT1
    HPAiHPA044518
    MalaCardsiPOMGNT1
    MIMi253280 phenotype
    606822 gene
    613151 phenotype
    613157 phenotype
    617123 phenotype
    neXtProtiNX_Q8WZA1
    OpenTargetsiENSG00000085998
    Orphaneti206564 Autosomal recessive limb-girdle muscular dystrophy type 2O
    370959 Congenital muscular dystrophy with cerebellar involvement
    588 Muscle-eye-brain disease
    791 Retinitis pigmentosa
    899 Walker-Warburg syndrome
    PharmGKBiPA142671161
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiENOG410IFXX Eukaryota
    ENOG410YMAS LUCA
    GeneTreeiENSGT00530000063632
    HOGENOMiHOG000231121
    HOVERGENiHBG055279
    InParanoidiQ8WZA1
    KOiK09666
    OMAiDESLYCI
    OrthoDBiEOG091G00JT
    PhylomeDBiQ8WZA1
    TreeFamiTF320555

    Enzyme and pathway databases

    UniPathwayi
    UPA00378

    BioCyciMetaCyc:ENSG00000085998-MONOMER
    ReactomeiR-HSA-5083628 Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3
    R-HSA-5173105 O-linked glycosylation
    SIGNORiQ8WZA1

    Miscellaneous databases

    ChiTaRSiPOMGNT1 human
    GeneWikiiPOMGNT1
    GenomeRNAii55624
    PROiPR:Q8WZA1
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000085998 Expressed in 214 organ(s), highest expression level in C1 segment of cervical spinal cord
    CleanExiHS_POMGNT1
    ExpressionAtlasiQ8WZA1 baseline and differential
    GenevisibleiQ8WZA1 HS

    Family and domain databases

    CDDicd13937 PANDER_GnT-1_2_like, 1 hit
    Gene3Di3.90.550.10, 1 hit
    InterProiView protein in InterPro
    IPR004139 Glyco_trans_13
    IPR039477 ILEI/PANDER_dom
    IPR029044 Nucleotide-diphossugar_trans
    IPR039474 POMGNT1_PANDER-like
    PANTHERiPTHR10468 PTHR10468, 1 hit
    PfamiView protein in Pfam
    PF03071 GNT-I, 1 hit
    PF15711 ILEI, 1 hit
    SUPFAMiSSF53448 SSF53448, 1 hit
    ProtoNetiSearch...

    Entry informationi

    Entry nameiPMGT1_HUMAN
    AccessioniPrimary (citable) accession number: Q8WZA1
    Secondary accession number(s): D3DQ16
    , Q5VST2, Q5VST3, Q9BV55, Q9H9L8, Q9NXF9, Q9NYF7
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2005
    Last sequence update: November 2, 2010
    Last modified: November 7, 2018
    This is version 151 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
      Index of protein domains and families
    2. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    7. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    UniProt is an ELIXIR core data resource
    Main funding by: National Institutes of Health

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