======= POMGNT1 ======= == Gene Information == * **Official Symbol**: POMGNT1 * **Official Name**: protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=55624|55624]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q8WZA1|Q8WZA1]] * **Interactions**: [[https://thebiogrid.org/search.php?search=POMGNT1&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20POMGNT1|Open PubMed]] * **OMIM**: [[https://omim.org/entry/606822|Open OMIM]] == Function Summary == * **Entrez 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]. * **UniProt Summary**: Participates in O-mannosyl glycosylation. May be responsible for the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O- Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins. Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity. {ECO:0000269|PubMed:11709191, ECO:0000269|PubMed:11742540, ECO:0000269|PubMed:26908613, ECO:0000269|PubMed:27391550}. |GNT-I| |beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity| |acetylglucosaminyltransferase activity| |O-glycan processing| |manganese ion binding| |integral component of Golgi membrane| |protein O-linked glycosylation| |protein glycosylation| |macromolecule glycosylation| |glycosylation| |glycoprotein biosynthetic process| |glycoprotein metabolic process| |Golgi membrane| |carbohydrate derivative biosynthetic process| |carbohydrate derivative metabolic process| |organonitrogen compound biosynthetic process| |cellular macromolecule biosynthetic process| |macromolecule biosynthetic process| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp146|Quinacrine 2.5μM R03 exp146]]|-1.92| No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 14390 * **Expression level (log2 read counts)**: 5.59 {{:chemogenomics:nalm6 dist.png?nolink |}}