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Aliases for POMGNT1 Gene

Aliases for POMGNT1 Gene

  • Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-) 2 3
  • UDP-GlcNAc:Alpha-D-Mannoside Beta-1,2-N-Acetylglucosaminyltransferase I.2 3 4
  • GnT I.2 3 4
  • MGAT1.2 3 4
  • MEB 3 6
  • Protein O-Linked-Mannose Beta-1,2-N-Acetylglucosaminyltransferase 1 3
  • Protein O-Linked Mannose Beta1,2-N-Acetylglucosaminyltransferase 2
  • Protein O-Mannose Beta-1,2-N-Acetylglucosaminyltransferase 2
  • Muscle-Eye-Brain Disease 2
  • EC 2.4.1.101 63
  • EC 2.4.1.- 4
  • EC 2.4.1 63
  • GnT-I.2 3
  • POMGnT1 4
  • GNTI.2 3
  • LGMD2O 3
  • MDDGA3 6
  • MDDGB3 6
  • MDDGC3 6

External Ids for POMGNT1 Gene

Previous HGNC Symbols for POMGNT1 Gene

  • MEB

Previous GeneCards Identifiers for POMGNT1 Gene

  • GC01M046367
  • GC01M046654
  • GC01M044769

Summaries for POMGNT1 Gene

Entrez Gene Summary for POMGNT1 Gene

  • This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]

GeneCards Summary for POMGNT1 Gene

POMGNT1 (Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)) is a Protein Coding gene. Diseases associated with POMGNT1 include muscular dystrophy-dystroglycanopathy , type a, 3 and muscular dystrophy-dystroglycanopathy , type b, 3. Among its related pathways are Other types of O-glycan biosynthesis. GO annotations related to this gene include beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity. An important paralog of this gene is MGAT1.

UniProtKB/Swiss-Prot for POMGNT1 Gene

  • 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.

Gene Wiki entry for POMGNT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POMGNT1 Gene

Genomics for POMGNT1 Gene

Regulatory Elements for POMGNT1 Gene

Genomic Location for POMGNT1 Gene

Start:
46,188,681 bp from pter
End:
46,220,305 bp from pter
Size:
31,625 bases
Orientation:
Minus strand

Genomic View for POMGNT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for POMGNT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POMGNT1 Gene

Proteins for POMGNT1 Gene

  • Protein details for POMGNT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WZA1-PMGT1_HUMAN
    Recommended name:
    Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1
    Protein Accession:
    Q8WZA1
    Secondary Accessions:
    • D3DQ16
    • Q5VST2
    • Q5VST3
    • Q9BV55
    • Q9H9L8
    • Q9NXF9
    • Q9NYF7

    Protein attributes for POMGNT1 Gene

    Size:
    660 amino acids
    Molecular mass:
    75252 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB14207.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for POMGNT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POMGNT1 Gene

Proteomics data for POMGNT1 Gene at MOPED

Post-translational modifications for POMGNT1 Gene

  • Ubiquitination at Lys537 and Lys538
  • Glycosylation at Thr524
  • Modification sites at PhosphoSitePlus

Other Protein References for POMGNT1 Gene

Domains for POMGNT1 Gene

Protein Domains for POMGNT1 Gene

Suggested Antigen Peptide Sequences for POMGNT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WZA1

UniProtKB/Swiss-Prot:

PMGT1_HUMAN :
  • Q8WZA1
Domain:
  • 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
Family:
  • Belongs to the glycosyltransferase 13 family.
genes like me logo Genes that share domains with POMGNT1: view

No data available for Gene Families for POMGNT1 Gene

Function for POMGNT1 Gene

Molecular function for POMGNT1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=1.85 mM for mannosylpeptide {ECO:0000269 PubMed:11709191, ECO:0000269 PubMed:11742540}; KM=0.73 mM for UDP-GlcNAc {ECO:0000269 PubMed:11709191, ECO:0000269 PubMed:11742540}; KM=30 mM for Man(alpha1-)O-benzyl {ECO:0000269 PubMed:11709191, ECO:0000269 PubMed:11742540}; KM=12 mM for CYA[Man(alpha1-)O-T]AV {ECO:0000269 PubMed:11709191, ECO:0000269 PubMed:11742540}; pH dependence: Optimum pH is 6.0. {ECO:0000269 PubMed:11709191, ECO:0000269 PubMed:11742540};
UniProtKB/Swiss-Prot CatalyticActivity: UDP-N-acetyl-alpha-D-glucosamine + O-alpha-D-mannosylprotein = UDP + N-acetyl-beta-D-glucosaminyl-(1->2)-O-alpha-D-mannosylprotein.
UniProtKB/Swiss-Prot Function: 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.

Enzyme Numbers (IUBMB) for POMGNT1 Gene

Gene Ontology (GO) - Molecular Function for POMGNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008375 acetylglucosaminyltransferase activity --
GO:0047223 beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity IDA 11742540
genes like me logo Genes that share ontologies with POMGNT1: view
genes like me logo Genes that share phenotypes with POMGNT1: view

Animal Models for POMGNT1 Gene

MGI Knock Outs for POMGNT1:

No data available for Transcription Factor Targeting and HOMER Transcription for POMGNT1 Gene

Localization for POMGNT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POMGNT1 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for POMGNT1 Gene COMPARTMENTS Subcellular localization image for POMGNT1 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 3
extracellular 2
cytosol 1

Gene Ontology (GO) - Cellular Components for POMGNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005794 Golgi apparatus --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with POMGNT1: view

Pathways for POMGNT1 Gene

genes like me logo Genes that share pathways with POMGNT1: view

Pathways by source for POMGNT1 Gene

1 KEGG pathway for POMGNT1 Gene

UniProtKB/Swiss-Prot Q8WZA1-PMGT1_HUMAN

  • Pathway: Protein modification; protein glycosylation

Gene Ontology (GO) - Biological Process for POMGNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation --
GO:0006493 protein O-linked glycosylation IDA 11709191
genes like me logo Genes that share ontologies with POMGNT1: view

Compounds for POMGNT1 Gene

(2) HMDB Compounds for POMGNT1 Gene

Compound Synonyms Cas Number PubMed IDs
Manganese
  • manganese
7439-96-5
N-Acetyl-D-glucosamine
  • 2-(acetylamino)-2-deoxyhexose
7512-17-6

(2) Novoseek inferred chemical compound relationships for POMGNT1 Gene

Compound -log(P) Hits PubMed IDs
alpha-d-mannoside 90.8 2
mannose 61 9
genes like me logo Genes that share compounds with POMGNT1: view

Transcripts for POMGNT1 Gene

Unigene Clusters for POMGNT1 Gene

Protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for POMGNT1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^
SP1: - - - - -
SP2: - -
SP3:
SP4:
SP5: - - - - - -
SP6:
SP7:
SP8:
SP9: - - -
SP10: -
SP11:
SP12:

ExUns: 17a · 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23a · 23b · 23c ^ 24a · 24b · 24c
SP1: - -
SP2:
SP3:
SP4: - - -
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for POMGNT1 Gene

GeneLoc Exon Structure for
POMGNT1
ECgene alternative splicing isoforms for
POMGNT1

Expression for POMGNT1 Gene

mRNA expression in normal human tissues for POMGNT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for POMGNT1 Gene

SOURCE GeneReport for Unigene cluster for POMGNT1 Gene Hs.525134

mRNA Expression by UniProt/SwissProt for POMGNT1 Gene

Q8WZA1-PMGT1_HUMAN
Tissue specificity: 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.
genes like me logo Genes that share expressions with POMGNT1: view

No data available for mRNA differential expression in normal tissues for POMGNT1 Gene

Orthologs for POMGNT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for POMGNT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POMGNT1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia POMGNT1 35
  • 93.64 (n)
  • 98.18 (a)
POMGNT1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POMGNT1 35
  • 93.84 (n)
  • 98.03 (a)
POMGNT1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pomgnt1 35
  • 92.37 (n)
  • 98.64 (a)
Pomgnt1 16
Pomgnt1 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POMGNT1 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POMGNT1 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pomgnt1 35
  • 91.97 (n)
  • 98.79 (a)
chicken
(Gallus gallus)
Aves POMGNT1 35
  • 77.83 (n)
  • 85.71 (a)
POMGNT1 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POMGNT1 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pomgnt1 35
  • 71.81 (n)
  • 82.29 (a)
Str.11459 35
zebrafish
(Danio rerio)
Actinopterygii pomgnt1 35
  • 72.27 (n)
  • 79.66 (a)
pomgnt1 36
  • 75 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea gly-12 36
  • 19 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToOne
Species with no ortholog for POMGNT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for POMGNT1 Gene

ENSEMBL:
Gene Tree for POMGNT1 (if available)
TreeFam:
Gene Tree for POMGNT1 (if available)

Paralogs for POMGNT1 Gene

Paralogs for POMGNT1 Gene

Selected SIMAP similar genes for POMGNT1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with POMGNT1: view

Variants for POMGNT1 Gene

Sequence variations from dbSNP and Humsavar for POMGNT1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1355643 -- 46,222,189(+) ACTCC(C/T)GGAAA upstream-variant-2KB
rs2275711 -- 46,190,694(+) ATCCA(C/T)CCCTT intron-variant
rs2292484 -- 46,192,656(+) ATGCT(A/G)GAATT intron-variant
rs2292485 -- 46,192,671(+) GAGCT(A/G)GGTCT intron-variant
rs2292486 -- 46,193,238(+) ATAGG(A/G)CACAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for POMGNT1 Gene

Variant ID Type Subtype PubMed ID
nsv527878 CNV Gain 19592680
nsv822520 CNV Loss 20364138
nsv470711 CNV Gain 18288195
esv270399 CNV Insertion 20981092
esv1137837 CNV Insertion 17803354

Relevant External Links for POMGNT1 Gene

HapMap Linkage Disequilibrium report
POMGNT1
Human Gene Mutation Database (HGMD)
POMGNT1
Locus Specific Mutation Databases (LSDB)
POMGNT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POMGNT1 Gene

Disorders for POMGNT1 Gene

(3) OMIM Diseases for POMGNT1 Gene (606822)

UniProtKB/Swiss-Prot

PMGT1_HUMAN
  • 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. {ECO:0000269 PubMed:11709191, ECO:0000269 PubMed:12588800, ECO:0000269 PubMed:15236414, ECO:0000269 PubMed:15466003, ECO:0000269 PubMed:17030669, ECO:0000269 PubMed:19067344}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:17030669, ECO:0000269 PubMed:19067344, ECO:0000269 PubMed:19299310}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:18195152}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for POMGNT1 Gene

(9) Novoseek inferred disease relationships for POMGNT1 Gene

Disease -log(P) Hits PubMed IDs
muscle-eye-brain disease 98.8 17
walker-warburg syndrome 96.3 4
muscular dystrophies 91 13
mdc1c 90.1 1
fukuyama congenital muscular dystrophy 89.9 2

Relevant External Links for POMGNT1

Genetic Association Database (GAD)
POMGNT1
Human Genome Epidemiology (HuGE) Navigator
POMGNT1
genes like me logo Genes that share disorders with POMGNT1: view

Publications for POMGNT1 Gene

  1. 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. (PMID: 11742540) Zhang W. … Schachter H. (Biochem. J. 2002) 2 3 4 23
  2. Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. (PMID: 12788071) Manya H. … Endo T. (Biochem. Biophys. Res. Commun. 2003) 2 3 4 23
  3. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. (PMID: 19299310) Mercuri E. … Bertini E. (Neurology 2009) 3 4 23 48
  4. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. (PMID: 17878207) Godfrey C. … Muntoni F. (Brain 2007) 3 23 48
  5. Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1. (PMID: 15207699) Akasaka-Manya K. … Endo T. (Biochem. Biophys. Res. Commun. 2004) 3 4 23

Products for POMGNT1 Gene

Sources for POMGNT1 Gene

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