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Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase [ Mus musculus (house mouse) ]

Gene ID: 68273, updated on 13-Oct-2022

Summary

Official Symbol
Pomgnt1provided by MGI
Official Full Name
protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferaseprovided by MGI
Primary source
MGI:MGI:1915523
See related
Ensembl:ENSMUSG00000028700 AllianceGenome:MGI:1915523
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
0610016I07Rik; 4930467B06Rik
Summary
Predicted to enable beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity and manganese ion binding activity. Acts upstream of or within protein O-linked glycosylation. Predicted to be integral component of membrane. Predicted to be integral component of Golgi membrane. Is expressed in several structures, including alimentary system; genitourinary system; liver; nervous system; and respiratory system. Used to study Walker-Warburg syndrome and muscular dystrophy-dystroglycanopathy. Human ortholog(s) of this gene implicated in lissencephaly; muscular dystrophy (multiple); and retinitis pigmentosa. Orthologous to human POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 35.5), ovary adult (RPKM 18.0) and 28 other tissues See more
Orthologs
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Genomic context

See Pomgnt1 in Genome Data Viewer
Location:
4; 4 D1
Exon count:
23
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (116007700..116017041)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (116150498..116159844)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 41 Neighboring gene RAD54 like (S. cerevisiae) Neighboring gene RIKEN cDNA 2510003B16 gene Neighboring gene leucine rich adaptor protein 1 Neighboring gene tetraspanin 1 Neighboring gene Pik3r3 upstream reading frame

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • RP23-319H15.3

Gene Ontology Provided by MGI

Process Evidence Code Pubs
involved_in O-glycan processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in O-glycan processing ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within protein O-linked glycosylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within protein O-linked glycosylation ISO
Inferred from Sequence Orthology
more info
 
involved_in protein glycosylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
is_active_in Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in Golgi membrane ISO
Inferred from Sequence Orthology
more info
 
located_in membrane ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1
Names
O-mannosyl N-acetylglucosaminyltransferase
NP_001277587.1
NP_080927.1
NP_084062.2

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001290658.1NP_001277587.1  protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform 3

    See identical proteins and their annotated locations for NP_001277587.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' terminal exon and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform 3, which has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AI848361, AK015478, AK019640
    Consensus CDS
    CCDS71450.1
    UniProtKB/Swiss-Prot
    Q91X88
    UniProtKB/TrEMBL
    A0A8C6H7C4
    Related
    ENSMUSP00000102103.3, ENSMUST00000106494.3
    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
  2. NM_026651.2NP_080927.1  protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform 1

    See identical proteins and their annotated locations for NP_080927.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB053220, AI848361, BY732188
    Consensus CDS
    CCDS18506.1
    UniProtKB/Swiss-Prot
    Q91X88, Q9DCN3
    UniProtKB/TrEMBL
    A0A8C6H795
    Related
    ENSMUSP00000102107.2, ENSMUST00000106498.8
    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. NM_029786.2NP_084062.2  protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform 2

    See identical proteins and their annotated locations for NP_084062.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AB053220, AI848361, AK002638, BY732188
    Consensus CDS
    CCDS18507.1
    UniProtKB/Swiss-Prot
    Q91X88
    Related
    ENSMUSP00000102105.2, ENSMUST00000106496.8
    Conserved Domains (2) summary
    cd02514
    Location:268595
    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:99229
    PANDER_GnT-1_2_like; PANDER-like domain of N-acetylglucosaminyltransferases

RefSeqs of Annotated Genomes: Mus musculus 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 GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    116007700..116017041
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_004941951.1 RNA Sequence

  2. XR_376348.2 RNA Sequence