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Q8WZA1

- PMGT1_HUMAN

UniProt

Q8WZA1 - PMGT1_HUMAN

Protein

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

Gene

POMGNT1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 113 (01 Oct 2014)
      Sequence version 2 (02 Nov 2010)
      Previous versions | rss
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    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

    Manganese.

    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

    GO - Molecular functioni

    1. beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity Source: MGI

    GO - Biological processi

    1. protein O-linked glycosylation Source: MGI

    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: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:19139. POMGNT1.

    Subcellular locationi

    GO - Cellular componenti

    1. Golgi membrane Source: UniProtKB-SubCell
    2. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]: An 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.6 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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. 1 Publication
    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. 1 Publication
    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. 1 Publication
    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) [MIM:613151]: An 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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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) [MIM:613157]: A rare form of limb-girdle muscular dystrophy with normal cognition. Muscle biopsy shows dystrophic changes with variable staining for glycosylated alpha-dystroglycan.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.

    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

    ArrayExpressiQ8WZA1.
    BgeeiQ8WZA1.
    CleanExiHS_POMGNT1.
    GenevestigatoriQ8WZA1.

    Organism-specific databases

    HPAiHPA044518.

    Interactioni

    Protein-protein interaction databases

    BioGridi120763. 5 interactions.
    IntActiQ8WZA1. 4 interactions.
    STRINGi9606.ENSP00000361052.

    Structurei

    3D structure databases

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

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 3737CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini59 – 660602LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei38 – 5821Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    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.
    HOGENOMiHOG000231121.
    HOVERGENiHBG055279.
    KOiK09666.
    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. Align

    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

    MDDWKPSPLI KPFGARKKRS WYLTWKYKLT NQRALRRFCQ TGAVLFLLVT    50
    VIVNIKLILD TRRAISEANE DPEPEQDYDE ALGRLEPPRR RGSGPRRVLD 100
    VEVYSSRSKV YVAVDGTTVL EDEAREQGRG IHVIVLNQAT GHVMAKRVFD 150
    TYSPHEDEAM VLFLNMVAPG RVLICTVKDE GSFHLKDTAK ALLRSLGSQA 200
    GPALGWRDTW AFVGRKGGPV FGEKHSKSPA LSSWGDPVLL KTDVPLSSAE 250
    EAECHWADTE LNRRRRRFCS KVEGYGSVCS CKDPTPIEFS PDPLPDNKVL 300
    NVPVAVIAGN RPNYLYRMLR SLLSAQGVSP QMITVFIDGY YEEPMDVVAL 350
    FGLRGIQHTP ISIKNARVSQ HYKASLTATF NLFPEAKFAV VLEEDLDIAV 400
    DFFSFLSQSI HLLEEDDSLY CISAWNDQGY EHTAEDPALL YRVETMPGLG 450
    WVLRRSLYKE ELEPKWPTPE KLWDWDMWMR MPEQRRGREC IIPDVSRSYH 500
    FGIVGLNMNG YFHEAYFKKH KFNTVPGVQL RNVDSLKKEA YEVEVHRLLS 550
    EAEVLDHSKN PCEDSFLPDT EGHTYVAFIR MEKDDDFTTW TQLAKCLHIW 600
    DLDVRGNHRG LWRLFRKKNH FLMVGVPASP YSVKKPPSVT PIFLEPPPKE 650
    EGAPGAPEQT 660
    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.

    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. 1 Publication
    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. 1 Publication
    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. 1 Publication
    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:
    EMBL
    GenBank
    DDBJ
    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. [Q8WZA1-1]
    ENST00000371992; ENSP00000361060; ENSG00000085998. [Q8WZA1-2]
    GeneIDi55624.
    KEGGihsa:55624.
    UCSCiuc001cpe.3. human. [Q8WZA1-1]

    Polymorphism databases

    DMDMi311033411.

    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:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS531.1. [Q8WZA1-1 ]
    CCDS57995.1. [Q8WZA1-2 ]
    RefSeqi NP_060209.3. NM_017739.3.
    XP_006710819.1. XM_006710756.1. [Q8WZA1-2 ]
    UniGenei Hs.525134.

    3D structure databases

    ProteinModelPortali Q8WZA1.
    SMRi Q8WZA1. Positions 128-217, 302-542.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120763. 5 interactions.
    IntActi Q8WZA1. 4 interactions.
    STRINGi 9606.ENSP00000361052.

    Chemistry

    ChEMBLi CHEMBL2321629.

    Protein family/group databases

    CAZyi GT13. Glycosyltransferase Family 13.

    PTM databases

    PhosphoSitei Q8WZA1.

    Polymorphism databases

    DMDMi 311033411.

    Proteomic databases

    MaxQBi Q8WZA1.
    PaxDbi Q8WZA1.
    PRIDEi Q8WZA1.

    Protocols and materials databases

    DNASUi 55624.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000371984 ; ENSP00000361052 ; ENSG00000085998 . [Q8WZA1-1 ]
    ENST00000371992 ; ENSP00000361060 ; ENSG00000085998 . [Q8WZA1-2 ]
    GeneIDi 55624.
    KEGGi hsa:55624.
    UCSCi uc001cpe.3. human. [Q8WZA1-1 ]

    Organism-specific databases

    CTDi 55624.
    GeneCardsi GC01M046654.
    GeneReviewsi POMGNT1.
    HGNCi HGNC:19139. POMGNT1.
    HPAi HPA044518.
    MIMi 253280. phenotype.
    606822. gene.
    613151. phenotype.
    613157. phenotype.
    neXtProti NX_Q8WZA1.
    Orphaneti 206564. Autosomal recessive limb-girdle muscular dystrophy type 2O.
    370959. Congenital muscular dystrophy with cerebellar involvement.
    588. Muscle-eye-brain disease.
    899. Walker-Warburg syndrome.
    PharmGKBi PA142671161.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG148227.
    HOGENOMi HOG000231121.
    HOVERGENi HBG055279.
    KOi K09666.
    OMAi NHFLVVG.
    OrthoDBi EOG786H2N.
    PhylomeDBi Q8WZA1.
    TreeFami TF320555.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .

    Miscellaneous databases

    ChiTaRSi POMGNT1. human.
    GeneWikii POMGNT1.
    GenomeRNAii 55624.
    NextBioi 60240.
    PROi Q8WZA1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8WZA1.
    Bgeei Q8WZA1.
    CleanExi HS_POMGNT1.
    Genevestigatori Q8WZA1.

    Family and domain databases

    Gene3Di 3.90.550.10. 1 hit.
    InterProi IPR004139. Glyco_trans_13.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view ]
    PANTHERi PTHR10468. PTHR10468. 1 hit.
    Pfami PF03071. GNT-I. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53448. SSF53448. 1 hit.
    ProtoNeti Search...

    Publicationsi

    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. "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.
    11. "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.
    12. "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.
    13. Cited for: VARIANTS MDDGA3 SER-425 AND TYR-490.
    14. "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.
    15. Cited for: VARIANTS MDDGA3 PRO-176; HIS-367 AND HIS-427, VARIANT MDDGB3 TYR-490.
    16. Cited for: VARIANT MDDGC3 ASN-556, CHARACTERIZATION OF VARIANT MDDGC3 ASN-556.
    17. 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: October 1, 2014
    This is version 113 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