POMGNT1

protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | FLJ20277, LGMD2O, MGAT1.2, MEB

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]

Developmental clusters: GC6

Biological processes 19 terms

Golgi membrane (GO:0000139)Golgi membrane (GO:0000139)Golgi membrane (GO:0000139)Golgi membrane (GO:0000139)acetylglucosaminyltransferase activity (GO:0008375)acetylglucosaminyltransferase activity (GO:0008375)acetylglucosaminyltransferase activity (GO:0008375)beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)glycoprotein biosynthetic process (GO:0009101)manganese ion binding (GO:0030145)membrane (GO:0016020)protein O-linked glycosylation (GO:0006493)protein O-linked glycosylation (GO:0006493)protein O-linked glycosylation (GO:0006493)protein O-linked glycosylation via N-acetyl-galactosamine (GO:0016266)protein O-linked glycosylation via N-acetyl-galactosamine (GO:0016266)protein binding (GO:0005515)

Expression (TPM)

TFs regulating POMGNT1 0 TFs

Transcription factors with Perturb-seq knockdown data for POMGNT1. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = POMGNT1 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

TF	Mean coef	Binding	Outlier	TF→Gene link

Rows:

Elements linked to POMGNT1

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of POMGNT1, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Element	Dist. to TSS	Link type	TFs
chr1:45,926,675–45,927,764	271.0 kb	Distal (>10kb) Multiome	127
chr1:45,929,025–45,929,719	269.0 kb	Distal (>10kb) Multiome	247
chr1:46,131,887–46,133,691	65.5 kb	Distal (>10kb) Multiome	1126
chr1:46,198,117–46,198,832	64 bp	At TSS Multiome	646
chr1:46,203,021–46,203,710	4.9 kb	Proximal (<10kb) Multiome	394
chr1:46,246,904–46,248,623	49.1 kb	Distal (>10kb) Multiome	923
chr1:46,254,338–46,255,513	56.3 kb	Distal (>10kb) Multiome	39
chr1:46,301,645–46,303,965	105.0 kb	Distal (>10kb) Multiome	1035
chr1:46,340,061–46,341,413	142.3 kb	Distal (>10kb) Multiome	967
chr1:46,394,021–46,394,849	196.0 kb	Distal (>10kb) Multiome	795
chr1:46,401,942–46,402,392	203.8 kb	Distal (>10kb) Multiome	511
chr1:46,406,082–46,407,120	208.1 kb	Distal (>10kb) Multiome	299
chr1:46,442,171–46,443,351	244.3 kb	Distal (>10kb) Multiome	649
chr1:46,448,113–46,448,679	250.1 kb	Distal (>10kb) Multiome	143
chr1:46,466,221–46,467,348	268.3 kb	Distal (>10kb) Multiome	398
chr1:46,489,045–46,490,312	291.3 kb	Distal (>10kb) Multiome	381

Genome Browser

Genomic view of the POMGNT1 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.