NP_001004127.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase
NCBI Official Synonym Full Names
ALG11, alpha-1,2-mannosyltransferase
NCBI Official Synonym Symbols
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
UniProt Synonym Gene Names
UniProt Entry Name
ALG11_HUMAN
NCBI Summary for ALG11
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 Comments for ALG11
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: Membrane protein, multi-pass; EC 2.4.1.131; Membrane protein, integral; Glycan Metabolism - N-glycan biosynthesis; Transferase
Chromosomal Location of Human Ortholog: 13q14.2
Cellular Component: endoplasmic reticulum membrane; membrane; integral to membrane
Molecular Function: glycolipid 2-alpha-mannosyltransferase activity
Biological Process: cellular protein metabolic process; dolichol-linked oligosaccharide biosynthetic process; protein amino acid N-linked glycosylation via asparagine; post-translational protein modification
Disease: Congenital Disorder Of Glycosylation, Type Ip
Product References and Citations for anti-ALG11 antibody
Rind, N., et al. Hum. Mol. Genet. 19(8):1413-1424(2010) Rohozinski, J., et al. Biol. Reprod. 74(4):644-651(2006)
Research Articles on ALG11
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Diseases associated with anti-ALG11 antibody
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