| UniProt Protein Function: | ALG11: Mannosyltransferase involved in the last steps of the synthesis of Man5GlcNAc(2)-PP-dolichol core oligosaccharide on the cytoplasmic face of the endoplasmic reticulum. Catalyzes the addition of the 4th and 5th mannose residues to the dolichol- linked oligosaccharide chain. Defects in ALG11 are the cause of congenital disorder of glycosylation type 1P (CDG1P). A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily.Protein type: EC 2.4.1.131; Transferase; Membrane protein, multi-pass; Glycan Metabolism - N-glycan biosynthesis; Membrane protein, integralChromosomal Location of Human Ortholog: 13q14.2Cellular Component: membraneDisease: Congenital Disorder Of Glycosylation, Type Ip |
| UniProt Protein Details: | |
| NCBI Summary: | This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. [provided by RefSeq, Aug 2010] |
| UniProt Code: | Q2TAA5 |
| NCBI GenInfo Identifier: | 156631015 |
| NCBI Gene ID: | 440138 |
| NCBI Accession: | Q2TAA5.2 |
| UniProt Secondary Accession: | Q2TAA5,Q5TAN9, Q6DKI6, Q96FI7, A5PLP3, B4DKW9 |
| UniProt Related Accession: | Q2TAA5 |
| Molecular Weight: | 55,651 Da |
| NCBI Full Name: | GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase |
| NCBI Synonym Full Names: | ALG11, alpha-1,2-mannosyltransferase |
| NCBI Official Symbol: | ALG11Â Â |
| NCBI Official Synonym Symbols: | GT8; CDG1PÂ Â |
| NCBI Protein Information: | GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase |
| UniProt Protein Name: | GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase |
| UniProt Synonym Protein Names: | Asparagine-linked glycosylation protein 11 homolog; Glycolipid 2-alpha-mannosyltransferase |
| Protein Family: | GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase |
| UniProt Gene Name: | ALG11Â Â |
| UniProt Entry Name: | ALG11_HUMAN |
