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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.2 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.2 Publications

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

    Pathwayi: protein 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

    BioCyciZFISH:ENSG00000085998-MONOMER.
    ReactomeiR-HSA-5173105. O-linked glycosylation.
    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.-2 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

    HGNCiHGNC:19139. POMGNT1.

    Subcellular locationi

    Topology

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

    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)DescriptionActionsGraphical viewLength
    Natural variantiVAR_065021176T → P in MDDGA3. 1 PublicationCorresponds to variant rs386834030dbSNPEnsembl.1
    Natural variantiVAR_065022198S → R in MDDGA3. 1 PublicationCorresponds to variant rs386834032dbSNPEnsembl.1
    Natural variantiVAR_023101223E → K in MDDGA3; specific activity abolished in the membrane bound form but not the soluble form. 3 PublicationsCorresponds to variant rs386834036dbSNPEnsembl.1
    Natural variantiVAR_023102265R → H in MDDGA3; found on the same allele as Q-311; unknown pathological significance. 1 PublicationCorresponds to variant rs386834010dbSNPEnsembl.1
    Natural variantiVAR_023103269C → Y in MDDGA3; specific activity abolished of the membrane bound form but not the soluble form. 3 PublicationsCorresponds to variant rs386834037dbSNPEnsembl.1
    Natural variantiVAR_023104311R → Q in MDDGA3 and MDDGB3. 2 PublicationsCorresponds to variant rs193919336dbSNPEnsembl.1
    Natural variantiVAR_065023367R → H in MDDGA3. 1 PublicationCorresponds to variant rs762972459dbSNPEnsembl.1
    Natural variantiVAR_023105425W → S in MDDGA3. 1 PublicationCorresponds to variant rs386834011dbSNPEnsembl.1
    Natural variantiVAR_065024427D → H in MDDGA3. 1 Publication1
    Natural variantiVAR_023106442R → C in MDDGA3. 1 PublicationCorresponds to variant rs28940869dbSNPEnsembl.1
    Natural variantiVAR_023107490C → Y in MDDGA3 and MDDGB3. 3 PublicationsCorresponds to variant rs267606960dbSNPEnsembl.1
    Natural variantiVAR_023108493P → R in MDDGA3; specific activity abolished. 2 PublicationsCorresponds to variant rs28942068dbSNPEnsembl.1
    Natural variantiVAR_023109550S → N in MDDGA3. 1 PublicationCorresponds to variant rs193919335dbSNPEnsembl.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_023104311R → Q in MDDGA3 and MDDGB3. 2 PublicationsCorresponds to variant rs193919336dbSNPEnsembl.1
    Natural variantiVAR_023107490C → Y in MDDGA3 and MDDGB3. 3 PublicationsCorresponds to variant rs267606960dbSNPEnsembl.1
    Natural variantiVAR_065026605R → P in MDDGB3. 1 PublicationCorresponds to variant rs267606962dbSNPEnsembl.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 rs74374973dbSNPEnsembl.1
    Retinitis pigmentosa autosomal recessive (ARRP)1 Publication
    The disease may be caused by mutations affecting the gene represented in this entry.
    Disease descriptionA 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.
    See also OMIM:268000
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_076524156E → K in ARRP; reduced enzymatic activity. 1 Publication1
    Natural variantiVAR_076525287I → S in ARRP; reduced enzymatic activity. 1 PublicationCorresponds to variant rs200863680dbSNPEnsembl.1
    Natural variantiVAR_076526502G → A in ARRP. 1 Publication1

    Keywords - Diseasei

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

    Organism-specific databases

    DisGeNETi55624.
    MalaCardsiPOMGNT1.
    MIMi253280. phenotype.
    268000. phenotype.
    613151. phenotype.
    613157. phenotype.
    OpenTargetsiENSG00000085998.
    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.

    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

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    EPDiQ8WZA1.
    MaxQBiQ8WZA1.
    PaxDbiQ8WZA1.
    PeptideAtlasiQ8WZA1.
    PRIDEiQ8WZA1.

    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.
    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. 23 interactors.
    IntActiQ8WZA1. 6 interactors.
    STRINGi9606.ENSP00000361052.

    Structurei

    Secondary structure

    1660
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Beta strandi98 – 108Combined sources11
    Beta strandi110 – 114Combined sources5
    Beta strandi117 – 122Combined sources6
    Beta strandi125 – 127Combined sources3
    Beta strandi130 – 136Combined sources7
    Turni138 – 140Combined sources3
    Beta strandi143 – 149Combined sources7
    Helixi156 – 166Combined sources11
    Beta strandi171 – 179Combined sources9
    Helixi187 – 195Combined sources9
    Helixi201 – 203Combined sources3
    Beta strandi209 – 215Combined sources7
    Beta strandi220 – 226Combined sources7
    Beta strandi229 – 233Combined sources5
    Beta strandi238 – 245Combined sources8
    Helixi249 – 252Combined sources4
    Helixi261 – 269Combined sources9
    Helixi276 – 279Combined sources4
    Beta strandi281 – 283Combined sources3
    Turni298 – 301Combined sources4
    Beta strandi304 – 308Combined sources5
    Helixi312 – 323Combined sources12
    Helixi330 – 332Combined sources3
    Beta strandi333 – 339Combined sources7
    Helixi342 – 350Combined sources9
    Beta strandi354 – 358Combined sources5
    Helixi364 – 382Combined sources19
    Beta strandi387 – 393Combined sources7
    Beta strandi396 – 398Combined sources3
    Helixi402 – 415Combined sources14
    Beta strandi419 – 424Combined sources6
    Turni431 – 433Combined sources3
    Beta strandi440 – 445Combined sources6
    Beta strandi449 – 454Combined sources6
    Helixi455 – 460Combined sources6
    Helixi463 – 465Combined sources3
    Helixi475 – 480Combined sources6
    Helixi482 – 485Combined sources4
    Beta strandi489 – 500Combined sources12
    Beta strandi504 – 507Combined sources4
    Helixi510 – 516Combined sources7
    Turni517 – 519Combined sources3
    Helixi533 – 536Combined sources4
    Helixi538 – 551Combined sources14
    Beta strandi552 – 554Combined sources3
    Helixi564 – 566Combined sources3
    Beta strandi574 – 583Combined sources10
    Helixi588 – 596Combined sources9
    Beta strandi606 – 608Combined sources3
    Beta strandi611 – 616Combined sources6
    Beta strandi619 – 627Combined sources9
    Helixi630 – 634Combined sources5

    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[»]
    ProteinModelPortaliQ8WZA1.
    SMRiQ8WZA1.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    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.

    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.
    OMAiPYSVKKP.
    OrthoDBiEOG091G00JT.
    PhylomeDBiQ8WZA1.
    TreeFamiTF320555.

    Family and domain databases

    Gene3Di3.90.550.10. 1 hit.
    InterProiIPR004139. Glyco_trans_13.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view]
    PANTHERiPTHR10468. PTHR10468. 2 hits.
    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 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_076524156E → K in ARRP; reduced enzymatic activity. 1 Publication1
    Natural variantiVAR_065021176T → P in MDDGA3. 1 PublicationCorresponds to variant rs386834030dbSNPEnsembl.1
    Natural variantiVAR_065022198S → R in MDDGA3. 1 PublicationCorresponds to variant rs386834032dbSNPEnsembl.1
    Natural variantiVAR_023101223E → K in MDDGA3; specific activity abolished in the membrane bound form but not the soluble form. 3 PublicationsCorresponds to variant rs386834036dbSNPEnsembl.1
    Natural variantiVAR_030645250E → V.1 PublicationCorresponds to variant rs17855359dbSNPEnsembl.1
    Natural variantiVAR_023102265R → H in MDDGA3; found on the same allele as Q-311; unknown pathological significance. 1 PublicationCorresponds to variant rs386834010dbSNPEnsembl.1
    Natural variantiVAR_023103269C → Y in MDDGA3; specific activity abolished of the membrane bound form but not the soluble form. 3 PublicationsCorresponds to variant rs386834037dbSNPEnsembl.1
    Natural variantiVAR_076525287I → S in ARRP; reduced enzymatic activity. 1 PublicationCorresponds to variant rs200863680dbSNPEnsembl.1
    Natural variantiVAR_023104311R → Q in MDDGA3 and MDDGB3. 2 PublicationsCorresponds to variant rs193919336dbSNPEnsembl.1
    Natural variantiVAR_065023367R → H in MDDGA3. 1 PublicationCorresponds to variant rs762972459dbSNPEnsembl.1
    Natural variantiVAR_023105425W → S in MDDGA3. 1 PublicationCorresponds to variant rs386834011dbSNPEnsembl.1
    Natural variantiVAR_065024427D → H in MDDGA3. 1 Publication1
    Natural variantiVAR_023106442R → C in MDDGA3. 1 PublicationCorresponds to variant rs28940869dbSNPEnsembl.1
    Natural variantiVAR_023107490C → Y in MDDGA3 and MDDGB3. 3 PublicationsCorresponds to variant rs267606960dbSNPEnsembl.1
    Natural variantiVAR_023108493P → R in MDDGA3; specific activity abolished. 2 PublicationsCorresponds to variant rs28942068dbSNPEnsembl.1
    Natural variantiVAR_076526502G → A in ARRP. 1 Publication1
    Natural variantiVAR_030646504V → I.Corresponds to variant rs17102066dbSNPEnsembl.1
    Natural variantiVAR_023109550S → N in MDDGA3. 1 PublicationCorresponds to variant rs193919335dbSNPEnsembl.1
    Natural variantiVAR_065025556D → N in MDDGC3; normal enzyme activity but altered kinetic properties. 1 PublicationCorresponds to variant rs74374973dbSNPEnsembl.1
    Natural variantiVAR_065026605R → P in MDDGB3. 1 PublicationCorresponds to variant rs267606962dbSNPEnsembl.1
    Natural variantiVAR_023110623M → V.7 PublicationsCorresponds to variant rs6659553dbSNPEnsembl.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. 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]
    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

    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. 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]
    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[»]
    ProteinModelPortaliQ8WZA1.
    SMRiQ8WZA1.
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi120763. 23 interactors.
    IntActiQ8WZA1. 6 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.

    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.
    GeneCardsiPOMGNT1.
    GeneReviewsiPOMGNT1.
    HGNCiHGNC:19139. POMGNT1.
    HPAiHPA044518.
    MalaCardsiPOMGNT1.
    MIMi253280. phenotype.
    268000. phenotype.
    606822. gene.
    613151. phenotype.
    613157. 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.
    899. Walker-Warburg syndrome.
    PharmGKBiPA142671161.
    GenAtlasiSearch...

    Phylogenomic databases

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

    Enzyme and pathway databases

    UniPathwayiUPA00378.
    BioCyciZFISH:ENSG00000085998-MONOMER.
    ReactomeiR-HSA-5173105. O-linked glycosylation.

    Miscellaneous databases

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

    Gene expression databases

    BgeeiENSG00000085998.
    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. 2 hits.
    PfamiPF03071. GNT-I. 1 hit.
    [Graphical view]
    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 historyi
    Integrated into UniProtKB/Swiss-Prot: August 16, 2005
    Last sequence update: November 2, 2010
    Last modified: November 30, 2016
    This is version 134 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

    3D-structure, 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families

    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 one 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.