JCEG ID | JCEG187 | ||||||||||||||||||||||||
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Name | sqv-3 WormBase NCBI Gene | ||||||||||||||||||||||||
Human Ortholog |
GGDB:B4GALT7 OMIM: 130070 137060 604013 604014 604015 607091 OrthoList : B4GALT7 (Ensembl Compara)
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Family Name | b4GalT | ||||||||||||||||||||||||
Locus Tag | R10E11.4 | ||||||||||||||||||||||||
RNAi phenotype |
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Sequence Features |
kr:Detected tm:Detected dxd:DVD gg_motif:M1,M2,M3,M6 |
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Sequence | CDS |
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Protein |
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References |
Herman T, Horvitz HR Cold Spring Harb. Symp. Quant. Biol. (1997) 62 :353-9 [PMID : 9598369] Mutations that perturb vulval invagination in C. elegans. Okajima T, Yoshida K, Kondo T, Furukawa K J. Biol. Chem. (1999) 274 (33) :22915-8 [PMID : 10438455] Human homolog of Caenorhabditis elegans sqv-3 gene is galactosyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans. Herman T, Horvitz HR Proc. Natl. Acad. Sci. U.S.A. (1999) 96 (3) :974-9 [PMID : 9927678] Three proteins involved in Caenorhabditis elegans vulval invagination are similar to components of a glycosylation pathway. Herman T, Hartwieg E, Horvitz HR Proc. Natl. Acad. Sci. U.S.A. (1999) 96 (3) :968-73 [PMID : 9927677] sqv mutants of Caenorhabditis elegans are defective in vulval epithelial invagination. Bulik DA, Wei G, Toyoda H, Kinoshita-Toyoda A, Waldrip WR, Esko JD, Robbins PW, Selleck SB Proc. Natl. Acad. Sci. U.S.A. (2000) 97 (20) :10838-43 [PMID : 11005858] sqv-3, -7, and -8, a set of genes affecting morphogenesis in Caenorhabditis elegans, encode enzymes required for glycosaminoglycan biosynthesis. Maeda I, Kohara Y, Yamamoto M, Sugimoto A Curr. Biol. (2001) 11 (3) :171-6 [PMID : 11231151] Large-scale analysis of gene function in Caenorhabditis elegans by high-throughput RNAi. Bulik DA, Robbins PW Biochim. Biophys. Acta (2002) 1573 (3) :247-57 [PMID : 12417407] The Caenorhabditis elegans sqv genes and functions of proteoglycans in development. Furukawa K, Okajima T Biochim. Biophys. Acta (2002) 1573 (3) :377-81 [PMID : 12417421] Galactosyltransferase I is a gene responsible for progeroid variant of Ehlers-Danlos syndrome: molecular cloning and identification of mutations. Kawar ZS, Van Die I, Cummings RD J. Biol. Chem. (2002) 277 (38) :34924-32 [PMID : 12167666] Molecular cloning and enzymatic characterization of a UDP-GalNAc:GlcNAc(beta)-R beta1,4-N-acetylgalactosaminyltransferase from Caenorhabditis elegans. Hwang HY, Horvitz HR Proc. Natl. Acad. Sci. U.S.A. (2002) 99 (22) :14224-9 [PMID : 12391315] The Caenorhabditis elegans vulval morphogenesis gene sqv-4 encodes a UDP-glucose dehydrogenase that is temporally and spatially regulated. 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. Sternberg PW WormBook (2005) :1-28 [PMID : 18050418] Vulval development. Eastburn DJ, Han M Mol. Cell. Biol. (2005) 25 (21) :9427-34 [PMID : 16227593] A gain-of-function allele of cbp-1, the Caenorhabditis elegans ortholog of the mammalian CBP/p300 gene, causes an increase in histone acetyltransferase activity and antagonism of activated Ras. Berninsone PM WormBook (2006) :1-22 [PMID : 18050430] Carbohydrates and glycosylation. 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. Ceron J, Rual JF, Chandra A, Dupuy D, Vidal M, van den Heuvel S BMC Dev. Biol. (2007) 7 :30 [PMID : 17417969] Large-scale RNAi screens identify novel genes that interact with the C. elegans retinoblastoma pathway as well as splicing-related components with synMuv B activity. Shaye DD, Greenwald I PLoS ONE (2011) 6 (5) :e20085 [PMID : 21647448] OrthoList: a compendium of C. elegans genes with human orthologs. 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 |
sqv-3 sqv-3 encodes a beta(1,4)-galactosyltransferase, biochemically active in vitro, that is required for cytokinesis of one-cell embryos, vulval morphogenesis, and chondroitin synthesis; SQV-3 is orthologous to human human galactosyltransferase I (B4GALT7; OMIM:604327, mutated in the progeroid form of Ehlers-Danlos syndrome); sqv-3 transgenically rescues hamster cells lacking galactosyl transferase I; the common requirement for SQV-3 in both cytokinesis and morphogenesis may be to promote filling an extracellular space with hygroscopic proteoglycans (either in the eggshell, or underneath the L4 cuticle), which in turn may cause the space to fill with fluid. |
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Deletion Mutants | ok2232 ok513 | |||||||||||||||||
In Situ | In Situ | |||||||||||||||||
Expression |
Expression
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WBGene00005021 Phenotype Homology_paralog |
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Phenotype | Definition | RNAi / Allele | ||||||||||||||||
bloated
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"Worms appears turgid or swollen as a result of an excess number of eggs being retained in the uterus." [WB:WBPerson2021, WB:WBPerson557] |
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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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hermaphrodite self sterile
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"Hermaphrodites fail to produce any viable progeny via self-fertilization. However, such hermaphrodites can successfully reproduce if mated to control males." [WB:WBPaper00001075, WB:WBPerson2021] |
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hermaphrodite sterile
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"Hermaphrodites fail to generate viable self-progeny and/or cross-progeny." [WB:WBPerson2021, WB:WBPerson557] |
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late embryonic arrest
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"Cessation of development during the final stages of embryogenesis. In C. elegans, this stage normally occurs 620-800 min after the first cleavage at 20C and is the stage after elongation." [WB:WBPerson101] |
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one cell arrest early emb
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"Embryos fail to divide and arrest as one-cell embryos." [WB:cab, WB:cgc5599] |
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oocyte morphology variant
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"Haploid female germ cells (oocytes) exhibit variations in their overall structure, appearance or contents compared to control." [WB:WBPaper00001883, WB:WBPerson2021] |
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squashed vulva
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"The apparent partial collapse of the vulval invagination and the elongation of central vulva cells often leading to a flattened appearance." [WB:WBPaper00003405] |
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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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vulval invagination variant L4
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"The characteristic Christmas-tree shaped invagination formed by the terminal vulval cells at the mid-late L4 stage is altered." [WB:WBPaper00001738, WB:WBPerson2021] |
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