- algn-11 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity. Predicted to be involved in dolichol-linked oligosaccharide biosynthetic process. Predicted to be located in endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation Ip. Is an ortholog of human ALG11 (ALG11 alpha-1,2-mannosyltransferase).
- IPT1 [Search on AGR]
Saccharomyces cerevisiae Inositolphosphotransferase; involved in synthesis of mannose-(inositol-P)2-ceramide (M(IP)2C), the most abundant sphingolipid; can mutate to resistance to the antifungals syringomycin E and DmAMP1 and to K. lactis zymocin
- Ndufs3 [Search on AGR]
Homo sapiens This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009]
- Sar1b [Search on AGR]
Homo sapiens The protein encoded by this gene is a small GTPase that acts as a homodimer. The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi. This protein is part of the COPII coat complex. Defects in this gene are a cause of chylomicron retention disease (CMRD), also known as Anderson disease (ANDD). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010]
- Alg11 [Search on AGR]
Rattus norvegicus Predicted to enable GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity. Predicted to be involved in dolichol-linked oligosaccharide biosynthetic process. Predicted to be active in endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation Ip. Orthologous to human ALG11 (ALG11 alpha-1,2-mannosyltransferase); PARTICIPATES IN N-linked glycan biosynthetic pathway; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; acetamide; acrylamide.
- sem-5 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enables epidermal growth factor receptor binding activity. Involved in several processes, including epidermal growth factor receptor signaling pathway; male genitalia development; and regulation of vulval development. Predicted to be located in cytoplasm; nucleoplasm; and plasma membrane. Predicted to be part of COP9 signalosome. Expressed in several structures, including P3.p hermaphrodite; P4.p hermaphrodite; P5.p hermaphrodite; P7.p hermaphrodite; and P8.p hermaphrodite. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 114; breast cancer; and reproductive organ cancer (multiple). Is an ortholog of human GRB2 (growth factor receptor bound protein 2).
- ppk-1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enables 1-phosphatidylinositol-4-phosphate 5-kinase activity and calmodulin binding activity. Involved in protein localization and regulation of mitotic spindle elongation. Located in plasma membrane. Expressed in egg-laying apparatus; gonad; seam cell; and ventral nerve cord. Human ortholog(s) of this gene implicated in lethal congenital contracture syndrome 3. Is an ortholog of human PIP5K1A (phosphatidylinositol-4-phosphate 5-kinase type 1 alpha).
- Alg11 [Search on AGR]
Homo sapiens 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]