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Protein O-mannosyl-transferase 1

Summary
UniProt ID
Q9Y6A1
Gene Symbol
  • POMT1
Organism
Homo sapiens (human)
External Links
GlyGen
Q9Y6A1
PubChem
Q9Y6A1
The Human Metabolome Database
HMDBP00946
The O-GlcNAc Database
Q9Y6A1
O-GlcNAcAtlas
Q9Y6A1
Annotation
Keyword
  • Alternative splicing
  • Congenital muscular dystrophy
  • Disease variant
  • Dystroglycanopathy
  • Endoplasmic reticulum
  • Glycoprotein
  • Glycosyltransferase
  • Limb-girdle muscular dystrophy
  • Lissencephaly
  • Metal-binding
  • Reference proteome
  • Repeat
  • Transmembrane helix
Gene Ontology (GO)
Annotation information from UniProt.
Sequence
MWGFLKRPVVVTADINLSLVALTGMGLLSRLWRLTYPRAVVFDEVYYGQYISFYMKQIFFLDDSGPPFGHMVLALGGYLGGFDGNFLWNRIGAEYSSNVPVWSLRLLPALAGALSVPMAYQIVLELHFSHCAAMGAALLMLIENALITQSRLMLLESVLIFFNLLAVLSYLKFFNCQKHSPFSLSWWFWLTLTGVACSCAVGIKYMGVFTYVLVLGVAAVHAWHLLGDQTLSNVGADVQCCMRPACMGQMQMSQGVCVFCHLLARAVALLVIPVVLYLLFFYVHLILVFRSGPHDQIMSSAFQASLEGGLARITQGQPLEVAFGSQVTLRNVFGKPVPCWLHSHQDTYPMIYENGRGSSHQQQVTCYPFKDVNNWWIVKDPRRHQLVVSSPPRPVRHGDMVQLVHGMTTRSLNTHDVAAPLSPHSQEVSCYIDYNISMPAQNLWRLEIVNRGSDTDVWKTILSEVRFVHVNTSAVLKLSGAHLPDWGYRQLEIVGEKLSRGYHGSTVWNVEEHRYGASQEQRERERELHSPAQVDVSRNLSFMARFSELQWRMLALRSDDSEHKYSSSPLEWVTLDTNIAYWLHPRTSAQIHLLGNIVIWVSGSLALAIYALLSLWYLLRRRRNVHDLPQDAWLRWVLAGALCAGGWAVNYLPFFLMEKTLFLYHYLPALTFQILLLPVVLQHISDHLCRSQLQRSIFSALVVAWYSSACHVSNTLRPLTYGDKSLSPHELKALRWKDSWDILIRKH
  • N : N-glycosylation Site
  • ___ : Potential Sequon
Glycosylation Sites
Displaying all 5 entries
Position Description PubMed ID GlyTouCan ID Source
16
435 N-linked (GlcNAc...) asparagine
471 N-linked (GlcNAc...) asparagine
539 N-linked (GlcNAc...) asparagine
541
Feature
  • ProtVista GlyGen : Glycosylation Site from GlyGen
  • ProtVista UniProt : Glycosylation Site from UniProt
Pathway
Displaying all 3 entries
Pathway Name Organism
Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1 Homo sapiens
Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2 Homo sapiens
O-linked glycosylation Homo sapiens
Disease
Displaying entries 1 - 10 of 147 in total
DO ID Disease Name Source
DOID:0050453 lissencephaly
DOID:0050463 campomelic dysplasia
DOID:0050557 congenital muscular dystrophy
DOID:0050559 Fukuyama congenital muscular dystrophy
DOID:0050560 Walker-Warburg syndrome
DOID:0050572 cone-rod dystrophy
DOID:0050588 muscular dystrophy-dystroglycanopathy type B1
DOID:0050700 cardiomyopathy
DOID:0050777 Joubert syndrome
DOID:0060249 scoliosis
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024