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

Gene ID: 55624, updated on 18-Aug-2020

Summary

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
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; LGMDR15; 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

Genomic context

See POMGNT1 in Genome Data Viewer
Location:
1p34.1
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (46188683..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 P3R3URF-PIK3R3 readthrough Neighboring gene phosphoinositide-3-kinase regulatory subunit 3 Neighboring gene uncharacterized LOC101929626 Neighboring gene PIK3R3 upstream reading frame 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

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20277, DKFZp761B182

Gene Ontology Provided by GOA

Process Evidence Code Pubs
O-glycan processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

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_001230695.2
NP_001277058.2
NP_001277059.2
NP_060209.4
XP_005271067.1
XP_006710818.1
XP_006710819.1
XP_011540062.1
XP_016857179.1

NCBI Reference Sequences (RefSeq)

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_001243766.2NP_001230695.2  protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform 2

    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)
    AL672043
    Consensus CDS
    CCDS57995.1
    Related
    ENSP00000361060.1, ENST00000371992.1
  2. NM_001290129.2NP_001277058.2  protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform 3

    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)
    AL672043
  3. NM_001290130.2NP_001277059.2  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)
    AL672043
  4. NM_017739.4NP_060209.4  protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform 1.
    Source sequence(s)
    AB057356, AL672043, BC001471, BQ448444, DA187331
    Consensus CDS
    CCDS531.1
    Related
    ENSP00000361052.3, ENST00000371984.8

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    46188683..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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