Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q8NAT1

- PMGT2_HUMAN

UniProt

Q8NAT1 - PMGT2_HUMAN

Protein

Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2

Gene

POMGNT2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 92 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    O-linked mannose beta-1,4-N-acetylglucosaminyltransferase that tranfers UDP-N-acetyl-D-glucosamine to the 4-position of the mannose to generate N-acetyl-D-glucosamine-beta-1,4-O-D-mannosylprotein. Involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity.1 Publication

    Catalytic activityi

    UDP-N-acetyl-alpha-D-glucosamine + O-alpha-D-mannosylprotein = UDP + N-acetyl-beta-D-glucosaminyl-(1->4)-O-alpha-D-mannosylprotein.1 Publication

    Pathwayi

    GO - Molecular functioni

    1. acetylglucosaminyltransferase activity Source: UniProtKB
    2. protein O-GlcNAc transferase activity Source: MGI

    GO - Biological processi

    1. protein O-linked glycosylation Source: UniProtKB

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Enzyme and pathway databases

    UniPathwayiUPA00378.

    Protein family/group databases

    CAZyiGT61. Glycosyltransferase Family 61.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 (EC:2.4.1.-)
    Short name:
    POMGnT2
    Alternative name(s):
    Extracellular O-linked N-acetylglucosamine transferase-like
    Glycosyltransferase-like domain-containing protein 2
    Gene namesi
    Name:POMGNT2
    Synonyms:AGO61, C3orf39, EOGTL, GTDC2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:25902. POMGNT2.

    Subcellular locationi

    Endoplasmic reticulum membrane 1 Publication; Single-pass type II membrane protein 1 Publication

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProtKB
    2. endoplasmic reticulum membrane Source: UniProtKB-SubCell
    3. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8 (MDDGA8) [MIM:614830]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti158 – 1581R → H in MDDGA8. 1 Publication
    VAR_068967

    Keywords - Diseasei

    Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy, Lissencephaly

    Organism-specific databases

    MIMi614830. phenotype.
    Orphaneti899. Walker-Warburg syndrome.
    PharmGKBiPA142672374.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 580580Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2PRO_0000249014Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi99 – 991N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi276 – 2761N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ8NAT1.
    PaxDbiQ8NAT1.
    PRIDEiQ8NAT1.

    PTM databases

    PhosphoSiteiQ8NAT1.

    Expressioni

    Tissue specificityi

    Highly expressed in the brain, muscle, heart, and kidney in both fetus and adult. In the brain, highest expression in the cortex and cerebellum. Highly expressed in the pancreas.1 Publication

    Gene expression databases

    BgeeiQ8NAT1.
    CleanExiHS_C3orf39.
    GenevestigatoriQ8NAT1.

    Organism-specific databases

    HPAiHPA034870.
    HPA040989.

    Interactioni

    Protein-protein interaction databases

    BioGridi124332. 3 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NAT1.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 44CytoplasmicSequence Analysis
    Topological domaini26 – 580555LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei5 – 2521Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini488 – 58093Fibronectin type-IIIPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the glycosyltransferase 61 family.Curated
    Contains 1 fibronectin type-III domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG317275.
    HOGENOMiHOG000006878.
    HOVERGENiHBG054852.
    InParanoidiQ8NAT1.
    KOiK18207.
    OMAiYAVNPDH.
    OrthoDBiEOG72G16T.
    PhylomeDBiQ8NAT1.
    TreeFamiTF332712.

    Family and domain databases

    Gene3Di2.60.40.10. 1 hit.
    InterProiIPR003961. Fibronectin_type3.
    IPR007657. Glycosyltransferase_AER61.
    IPR013783. Ig-like_fold.
    [Graphical view]
    PfamiPF04577. DUF563. 1 hit.
    [Graphical view]
    SUPFAMiSSF49265. SSF49265. 1 hit.
    PROSITEiPS50853. FN3. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q8NAT1-1 [UniParc]FASTAAdd to Basket

    « Hide

    MHLSAVFNAL LVSVLAAVLW KHVRLREHAA TLEEELALSR QATEPAPALR    50
    IDYPKALQIL MEGGTHMVCT GRTHTDRICR FKWLCYSNEA EEFIFFHGNT 100
    SVMLPNLGSR RFQPALLDLS TVEDHNTQYF NFVELPAAAL RFMPKPVFVP 150
    DVALIANRFN PDNLMHVFHD DLLPLFYTLR QFPGLAHEAR LFFMEGWGEG 200
    AHFDLYKLLS PKQPLLRAQL KTLGRLLCFS HAFVGLSKIT TWYQYGFVQP 250
    QGPKANILVS GNEIRQFARF MTEKLNVSHT GVPLGEEYIL VFSRTQNRLI 300
    LNEAELLLAL AQEFQMKTVT VSLEDHTFAD VVRLVSNASM LVSMHGAQLV 350
    TTLFLPRGAT VVELFPYAVN PDHYTPYKTL AMLPGMDLQY VAWRNMMPEN 400
    TVTHPERPWD QGGITHLDRA EQARILQSRE VPRHLCCRNP EWLFRIYQDT 450
    KVDIPSLIQT IRRVVKGRPG PRKQKWTVGL YPGKVREARC QASVHGASEA 500
    RLTVSWQIPW NLKYLKVREV KYEVWLQEQG ENTYVPYILA LQNHTFTENI 550
    KPFTTYLVWV RCIFNKILLG PFADVLVCNT 580
    Length:580
    Mass (Da):66,615
    Last modified:October 1, 2002 - v1
    Checksum:i57D7FD168373FD9D
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti158 – 1581R → H in MDDGA8. 1 Publication
    VAR_068967

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK027472 mRNA. Translation: BAB55137.1.
    AK092147 mRNA. Translation: BAC03816.1.
    AK124737 mRNA. Translation: BAG54085.1.
    AC092042 Genomic DNA. No translation available.
    CH471055 Genomic DNA. Translation: EAW64690.1.
    BC060861 mRNA. Translation: AAH60861.1.
    CCDSiCCDS2709.1.
    RefSeqiNP_116195.2. NM_032806.5.
    XP_005265572.1. XM_005265515.1.
    XP_006713424.1. XM_006713361.1.
    UniGeneiHs.745002.

    Genome annotation databases

    EnsembliENST00000344697; ENSP00000344125; ENSG00000144647.
    ENST00000441964; ENSP00000408992; ENSG00000144647.
    GeneIDi84892.
    KEGGihsa:84892.
    UCSCiuc003cmq.2. human.

    Polymorphism databases

    DMDMi74729999.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK027472 mRNA. Translation: BAB55137.1 .
    AK092147 mRNA. Translation: BAC03816.1 .
    AK124737 mRNA. Translation: BAG54085.1 .
    AC092042 Genomic DNA. No translation available.
    CH471055 Genomic DNA. Translation: EAW64690.1 .
    BC060861 mRNA. Translation: AAH60861.1 .
    CCDSi CCDS2709.1.
    RefSeqi NP_116195.2. NM_032806.5.
    XP_005265572.1. XM_005265515.1.
    XP_006713424.1. XM_006713361.1.
    UniGenei Hs.745002.

    3D structure databases

    ProteinModelPortali Q8NAT1.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124332. 3 interactions.

    Protein family/group databases

    CAZyi GT61. Glycosyltransferase Family 61.

    PTM databases

    PhosphoSitei Q8NAT1.

    Polymorphism databases

    DMDMi 74729999.

    Proteomic databases

    MaxQBi Q8NAT1.
    PaxDbi Q8NAT1.
    PRIDEi Q8NAT1.

    Protocols and materials databases

    DNASUi 84892.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000344697 ; ENSP00000344125 ; ENSG00000144647 .
    ENST00000441964 ; ENSP00000408992 ; ENSG00000144647 .
    GeneIDi 84892.
    KEGGi hsa:84892.
    UCSCi uc003cmq.2. human.

    Organism-specific databases

    CTDi 84892.
    GeneCardsi GC03M043121.
    GeneReviewsi POMGNT2.
    HGNCi HGNC:25902. POMGNT2.
    HPAi HPA034870.
    HPA040989.
    MIMi 614828. gene.
    614830. phenotype.
    neXtProti NX_Q8NAT1.
    Orphaneti 899. Walker-Warburg syndrome.
    PharmGKBi PA142672374.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG317275.
    HOGENOMi HOG000006878.
    HOVERGENi HBG054852.
    InParanoidi Q8NAT1.
    KOi K18207.
    OMAi YAVNPDH.
    OrthoDBi EOG72G16T.
    PhylomeDBi Q8NAT1.
    TreeFami TF332712.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .

    Miscellaneous databases

    ChiTaRSi C3orf39. human.
    GenomeRNAii 84892.
    NextBioi 75226.
    PROi Q8NAT1.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8NAT1.
    CleanExi HS_C3orf39.
    Genevestigatori Q8NAT1.

    Family and domain databases

    Gene3Di 2.60.40.10. 1 hit.
    InterProi IPR003961. Fibronectin_type3.
    IPR007657. Glycosyltransferase_AER61.
    IPR013783. Ig-like_fold.
    [Graphical view ]
    Pfami PF04577. DUF563. 1 hit.
    [Graphical view ]
    SUPFAMi SSF49265. SSF49265. 1 hit.
    PROSITEi PS50853. FN3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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].
      Tissue: Brain.
    2. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
      , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Placenta.
    5. "SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function."
      Yoshida-Moriguchi T., Willer T., Anderson M.E., Venzke D., Whyte T., Muntoni F., Lee H., Nelson S.F., Yu L., Campbell K.P.
      Science 341:896-899(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, CATALYTIC ACTIVITY, SUBCELLULAR LOCATION.
    6. Cited for: VARIANT MDDGA8 HIS-158, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiPMGT2_HUMAN
    AccessioniPrimary (citable) accession number: Q8NAT1
    Secondary accession number(s): B3KWC3, Q96SY3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 5, 2006
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 92 of the entry and version 1 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 3
      Human chromosome 3: 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