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Gene: POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)) Homo sapiens
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Symbol: POMGNT1
Name: protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Description: Exhibits beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity and manganese ion binding activity. Involved in O-glycan processing. Localizes to the integral component of Golgi membrane. Implicated in lissencephaly; muscular dystrophy (multiple); and retinitis pigmentosa.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp761B182; FLJ20277; GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15; MDDGA3; MDDGB3; MDDGC3; MEB; MGAT1.2; muscle-eye-brain disease; protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase; protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1; RP76; UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl146,188,682 - 46,220,305 (-)Ensembl
GRCh38146,188,681 - 46,220,305 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37146,654,353 - 46,685,977 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36146,426,940 - 46,436,708 (-)NCBINCBI36hg18NCBI36
Celera144,941,643 - 44,973,721 (-)NCBI
Cytogenetic Map1p34.1NCBI
HuRef144,769,330 - 44,801,277 (-)NCBIHuRef
CHM1_1146,771,477 - 46,803,118 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on POMGNT1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1601994
Created: 2007-04-27
Species: Homo sapiens
Last Modified: 2019-12-25
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.