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    POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [ Homo sapiens (human) ]

    Gene ID: 55624, updated on 23-May-2018
    Official Symbol
    POMGNT1provided by HGNC
    Official Full Name
    protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)provided by HGNC
    Primary source
    HGNC:HGNC:19139
    See related
    Ensembl:ENSG00000085998 MIM:606822; Vega:OTTHUMG00000007604
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MEB; RP76; GNTI.2; LGMD2O; GnT I.2; MGAT1.2; gnT-I.2
    Summary
    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]
    Expression
    Ubiquitous expression in heart (RPKM 23.4), thyroid (RPKM 21.0) and 25 other tissues See more
    Orthologs
    See POMGNT1 in Genome Data Viewer
    Location:
    1p34.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (46188681..46220305, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (46654353..46685977, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene LOC110117498-PIK3R3 readthrough Neighboring gene phosphoinositide-3-kinase regulatory subunit 3 Neighboring gene uncharacterized LOC101929626 Neighboring gene uncharacterized LOC110117498 Neighboring gene tetraspanin 1 Neighboring gene leucine rich adaptor protein 1 Neighboring gene RAD54 like Neighboring gene leucine rich repeat containing 41 Neighboring gene ubiquinol-cytochrome c reductase hinge protein

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Mannose type O-glycan biosynthesis, organism-specific biosystem (from KEGG)
      Mannose type O-glycan biosynthesis, organism-specific biosystemBiosynthesis of mammalian O-mannosyl glycans is initiated by the transfer of mannose from mannose-P-Dol to serine or threonine residue, followed by extensions with N-acetylglucosamine (GlcNAc) and ga...
    • Mannose type O-glycan biosynthesis, conserved biosystem (from KEGG)
      Mannose type O-glycan biosynthesis, conserved biosystemBiosynthesis of mammalian O-mannosyl glycans is initiated by the transfer of mannose from mannose-P-Dol to serine or threonine residue, followed by extensions with N-acetylglucosamine (GlcNAc) and ga...
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • O-linked glycosylation, organism-specific biosystem (from REACTOME)
      O-linked glycosylation, organism-specific biosystemO-glycosylation is an important post-translational modification (PTM) required for correct functioning of many proteins (Van den Steen et al. 1998, Moremen et al. 2012). The O-glycosylation of protei...
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ20277, DKFZp761B182

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    O-glycan processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein O-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein O-linked glycosylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein O-linked glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein O-linked glycosylation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    Golgi membrane TAS
    Traceable Author Statement
    more info
     
    integral component of Golgi membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Preferred Names
    protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1
    Names
    UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2
    NP_001230695.1
    NP_001277058.1
    NP_001277059.1
    NP_060209.3
    XP_005271067.1
    XP_006710818.1
    XP_006710819.1
    XP_011540062.1
    XP_016857179.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009205.2 RefSeqGene

      Range
      5001..36625
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001243766.1NP_001230695.1  protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform 2

      See identical proteins and their annotated locations for NP_001230695.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' and 3' UTRs and uses an alternate splice site in the coding region, compared to variant 1. The encoded isoform (2) is longer and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK056186, AL672043, BQ448444
      Consensus CDS
      CCDS57995.1
      Related
      ENSP00000361060.1, OTTHUMP00000008902, ENST00000371992.1, OTTHUMT00000020147
      Conserved Domains (2) summary
      cd02514
      Location:301623
      GT13_GLCNAC-TI; GT13_GLCNAC-TI is involved in an essential step in the synthesis of complex or hybrid-type N-linked oligosaccharides
      cd13937
      Location:99246
      PANDER_GnT-1_2_like; PANDER-like domain of N-acetylglucosaminyltransferases
    2. NM_001290129.1NP_001277058.1  protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform 3

      See identical proteins and their annotated locations for NP_001277058.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' and 3' UTRs, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AK302379, AL672043, BQ448444
      UniProtKB/TrEMBL
      B7Z7Q4
      Conserved Domains (2) summary
      cd02514
      Location:279606
      GT13_GLCNAC-TI; GT13_GLCNAC-TI is involved in an essential step in the synthesis of complex or hybrid-type N-linked oligosaccharides
      cd13937
      Location:77224
      PANDER_GnT-1_2_like; PANDER-like domain of N-acetylglucosaminyltransferases
    3. NM_001290130.1NP_001277059.1  protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' and 3' UTRs, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 1. The resulting protein (isoform 4) is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AA918249, AK301923, AL672043, BQ448444
      UniProtKB/TrEMBL
      B7Z7F2
      Conserved Domains (2) summary
      cd02514
      Location:158485
      GT13_GLCNAC-TI; GT13_GLCNAC-TI is involved in an essential step in the synthesis of complex or hybrid-type N-linked oligosaccharides
      cl19122
      Location:1103
      PANDER_like; Domains similar to the Pancreatic-derived factor
    4. NM_017739.3NP_060209.3  protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform 1

      See identical proteins and their annotated locations for NP_060209.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes the shorter isoform (1).
      Source sequence(s)
      AB057356, BC001471, BQ448444, DA187331
      Consensus CDS
      CCDS531.1
      UniProtKB/Swiss-Prot
      Q8WZA1
      Related
      ENSP00000361052.3, OTTHUMP00000008901, ENST00000371984.7, OTTHUMT00000020146
      Conserved Domains (2) summary
      cd02514
      Location:301628
      GT13_GLCNAC-TI; GT13_GLCNAC-TI is involved in an essential step in the synthesis of complex or hybrid-type N-linked oligosaccharides
      cd13937
      Location:99246
      PANDER_GnT-1_2_like; PANDER-like domain of N-acetylglucosaminyltransferases

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      46188681..46220305 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006710756.1XP_006710819.1  protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform X3

      UniProtKB/Swiss-Prot
      Q8WZA1
      Conserved Domains (2) summary
      cd02514
      Location:301623
      GT13_GLCNAC-TI; GT13_GLCNAC-TI is involved in an essential step in the synthesis of complex or hybrid-type N-linked oligosaccharides
      cd13937
      Location:99246
      PANDER_GnT-1_2_like; PANDER-like domain of N-acetylglucosaminyltransferases
    2. XM_005271010.1XP_005271067.1  protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform X1

      See identical proteins and their annotated locations for XP_005271067.1

      Conserved Domains (2) summary
      cd02514
      Location:301628
      GT13_GLCNAC-TI; GT13_GLCNAC-TI is involved in an essential step in the synthesis of complex or hybrid-type N-linked oligosaccharides
      cd13937
      Location:99246
      PANDER_GnT-1_2_like; PANDER-like domain of N-acetylglucosaminyltransferases
    3. XM_006710755.1XP_006710818.1  protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform X1

      See identical proteins and their annotated locations for XP_006710818.1

      Conserved Domains (2) summary
      cd02514
      Location:301628
      GT13_GLCNAC-TI; GT13_GLCNAC-TI is involved in an essential step in the synthesis of complex or hybrid-type N-linked oligosaccharides
      cd13937
      Location:99246
      PANDER_GnT-1_2_like; PANDER-like domain of N-acetylglucosaminyltransferases
    4. XM_017001690.1XP_016857179.1  protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform X2

      UniProtKB/Swiss-Prot
      Q8WZA1
      Conserved Domains (2) summary
      cd02514
      Location:301628
      GT13_GLCNAC-TI; GT13_GLCNAC-TI is involved in an essential step in the synthesis of complex or hybrid-type N-linked oligosaccharides
      cd13937
      Location:99246
      PANDER_GnT-1_2_like; PANDER-like domain of N-acetylglucosaminyltransferases
    5. XM_011541760.3XP_011540062.1  protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform X4

      Conserved Domains (2) summary
      cd02514
      Location:279606
      GT13_GLCNAC-TI; GT13_GLCNAC-TI is involved in an essential step in the synthesis of complex or hybrid-type N-linked oligosaccharides
      cd13937
      Location:77224
      PANDER_GnT-1_2_like; PANDER-like domain of N-acetylglucosaminyltransferases
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