JCEG ID | JCEG127 | |||||||||||||||
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Name | rib-1 WormBase NCBI Gene | |||||||||||||||
Human Ortholog |
OMIM: 133700 150230 215300 601738 608177 OrthoList : EXT1 EXTL1 (Ensembl Compara)
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Family Name | Glycosaminoglycan (GAG ) and Chitin synthesis genes | |||||||||||||||
Locus Tag | F12F6.3 | |||||||||||||||
RNAi phenotype |
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Sequence Features |
tm:soluble gg_motif:M1, M6 dxd:N.D. |
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Sequence | CDS |
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Protein |
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References |
Clines GA, Ashley JA, Shah S, Lovett M Genome Res. (1997) 7 (4) :359-67 [PMID : 9110175] The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans. Kitagawa H, Egusa N, Tamura JI, Kusche-Gullberg M, Lindahl U, Sugahara K J. Biol. Chem. (2000) 276 (7) :4834-8 [PMID : 11121397] rib-2, a Caenorhabditis elegans homolog of the human tumor suppressor EXT genes encodes a novel alpha1,4-N-acetylglucosaminyltransferase involved in the biosynthetic initiation and elongation of heparan sulfate. Sugahara K, Mikami T, Uyama T, Mizuguchi S, Nomura K, Kitagawa H Curr. Opin. Struct. Biol. (2003) 13 (5) :612-20 [PMID : 14568617] Recent advances in the structural biology of chondroitin sulfate and dermatan sulfate. Mizuguchi S, Uyama T, Kitagawa H, Nomura KH, Dejima K, Gengyo-Ando K, Mitani S, Sugahara K, Nomura K Nature (2003) 423 (6938) :443-8 [PMID : 12761550] Chondroitin proteoglycans are involved in cell division of Caenorhabditis elegans. Franks DM, Izumikawa T, Kitagawa H, Sugahara K, Okkema PG Dev. Biol. (2006) 296 (2) :409-20 [PMID : 16828468] C. elegans pharyngeal morphogenesis requires both de novo synthesis of pyrimidines and synthesis of heparan sulfate proteoglycans. Berninsone PM WormBook (2006) :1-22 [PMID : 18050430] Carbohydrates and glycosylation. Burglin TR, Kuwabara PE WormBook (2006) :1-14 [PMID : 18050469] Homologs of the Hh signalling network in C. elegans. Kitagawa H, Izumikawa T, Mizuguchi S, Dejima K, Nomura KH, Egusa N, Taniguchi F, Tamura J, Gengyo-Ando K, Mitani S, Nomura K, Sugahara K J. Biol. Chem. (2007) 282 (11) :8533-44 [PMID : 17237233] Expression of rib-1, a Caenorhabditis elegans homolog of the human tumor suppressor EXT genes, is indispensable for heparan sulfate synthesis and embryonic morphogenesis. Shaye DD, Greenwald I PLoS ONE (2011) 6 (5) :e20085 [PMID : 21647448] OrthoList: a compendium of C. elegans genes with human orthologs. LeGendre JB, Campbell ZT, Kroll-Conner P, Anderson P, Kimble J, Wickens M J. Biol. Chem. (2012) 288 (4) :2532-45 [PMID : 23195953] RNA targets and specificity of Staufen, a double-stranded RNA-binding protein in Caenorhabditis elegans. Berninsone PM, Hirschberg CB Glycoconj. J. 19 (4-5) :325-30 [PMID : 12975612] The nematode Caenorhabditis elegans as a model to study the roles of proteoglycans. |
Functional Descriptions |
rib-1 The rib-1 gene encodes an ortholog of human EXT1; the family of EXT genes have GlcNAc transferase activities and are involved in the synthesis of heparin sulfate proteoglycans; the RIB-1 protein interacts with RIB-2 and coexpression of RIB-1 and RIB-2 proteins in vitro results in glycosyltransferase and heparin sulphate polymerase activities; rib-1 is also required for proper embryonic development, suggesting that rib-1 and rib-2 are required for the biosynthesis of glycosaminoglycans during development. |
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Deletion Mutants | ok556 tm516 | |||||||||||||||||
In Situ | In Situ | |||||||||||||||||
Expression |
Expression
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WBGene00004360 Phenotype Homology_paralog |
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Phenotype | Definition | RNAi / Allele | ||||||||||||||||
actin cytoskeleton filament morphology variant
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"Animals exhibit variations in the form, structure, composition or arrangement of actin, an abundant cytoskeletal protein in most cells, often linked to the plasma membrane and concentrated at cell junctions compared to control (Wormatlas)." [WB:WBPerson2021, WB:WBPerson557] |
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body elongation variant
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"Any variation in the elongation of embryonic epidermal cells compared to control. In C. elegans, this elongation occurs along an anterior-posterior axis, which is required to transform the bean-shaped embryo into the elongated shape of the worm." [WB:WBPerson2021, WB:WBPerson557] |
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chondroitin biosynthesis variant
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"Animals exhibit variations in the chemical reactions and pathways resulting in the formation of chondroitin sulfate compared to control." [WB:WBPaper00029024, WB:WBPaper00031153, WB:WBPerson712] |
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egg laying variant
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" Animals exhibit variations in the stage of eggs laid, egg laying cycle, number of eggs or egg laying in response to stimuli compared to control." [pmid:11813735, pmid:9697864, WB:cab] |
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embryonic lethal
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"Animals die during embryonic development. In C. elegans, often assayed as refractile eggs that fail to hatch; when applied to large-scale RNAi screens in C. elegans, more than 10% of embryos die." [WB:cab, WB:WBPaper00000179, WB:WBPaper00004403, WB:WBPaper00004540, WB:WBPaper00004651, WB:WBPaper00004769, WB:WBPaper00005654, WB:WBPaper00024497, WB:WBPaper00024925, WB:WBPaper00025054] |
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heparan sulfate biosynthesis variant
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"Animals exhibit variations in the chemical reactions and pathways resulting in the formation of the heparan sulfate proteoglycan compared to control." [WB:WBPaper00029024, WB:WBPaper00031153, WB:WBPerson712] |
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lethal
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"Animals die prematurely at any stage of the life cycle." [WB:WBPaper00001109, WB:WBPerson2021] |
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metabolic pathway variant
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"Animals exhibit variations in processes that are responsible for chemical changes compared to control animals. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation." [GO:0008152, WB:WBPerson712] |
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nervous system morphology variant
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"Animals exhibit variations in the structure or organization of any component that is part of the complement of organ tissues that serve to detect, relay and coordinate information about an animal's internal and external environments and to initiate and integrate its effector responses and activities, compared to that in control animals." [WB:WBPerson712] |
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pharyngeal development variant
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"Variations in the progression of the pharynx (feeding organ) over time, from its formation to the mature structure compared to control. In C. elegans the pharynx is divided into the anterior and posterior regions. The anterior region includes the corpus (procorpus and metacorpus - first bulb) and the posterior region includes the isthmus and terminal bulb (second bulb)." [GO:0043282, WB:WBPerson2021] |
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protruding vulva
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"Animals undergo incomplete vulval morphogenesis, resulting in the formation of a single protrusion at the site of the vulva." [WB:WBPaper00004408, WB:WBPerson2021] |
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sterile
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"Animals generate defective gametes, are otherwise unable to reproduce or they generate progeny that are unable to reproduce." [GO:0000003, WB:WBPerson712] |
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ventral enclosure variant
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"Any variation in the process that regulates the migration of ventral epidermal cells toward the ventral midline (to encase underlying cells in an epithelial monolayer) in developing embryos compared to control." [WB:WBPaper00027244, WB:WBPerson2021] |
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