JCEG ID JCEG187
Name sqv-3      WormBase    NCBI Gene
Human Ortholog

GGDB:B4GALT7 

OMIM: 130070 137060 604013 604014 604015 607091

OrthoList :   B4GALT7  (Ensembl Compara)

GGDB Score E-val
B4GALT7 229 3e-62
B4GALT6 99 6e-23
B4GALT1 99 1e-22
B4GALT4 96 5e-22
B4GALT5 94 2e-21
B4GALT2 87 3e-19
B4GALT3 87 4e-19
Option tblastn : Query Worm Protein, Subject GGDB mRNA, E-val < 0.00001
Family Name b4GalT
Locus Tag R10E11.4
RNAi phenotype
phenotype Emb
Microscope observation (Image)
COPAS (Image)

Normal

hsp-4::GFP (Image)
Sequence Features kr:Detected
tm:Detected
dxd:DVD
gg_motif:M1,M2,M3,M6
Sequence CDS
Protein
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.

WormBase (WS254)

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.
Deletion Mutants ok2232 ok513
In Situ In Situ   
Expression Expression
db_name wbbt name def reliability expr_pattern paper WormAtlas
WB WBbt:0005784

germ line "cell line which early in development becomes differentiated from the remaining somatic cell line, and alone has the potential to undergo meiosis and form gametes." [ISBN:0140512888] Enriched WBPaper00044760 : germline_specific
WBPaper00044760

WBGene00005021
Phenotype
Homology_paralog

Observed Observed and NOT Observed
Phenotype Definition RNAi / Allele
bloated

"Worms appears turgid or swollen as a result of an excess number of eggs being retained in the uterus." [WB:WBPerson2021, WB:WBPerson557]
Allele: WBVar00090592   WBPaper00003405   Observed
embryonic lethal

"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]
RNAi: WBRNAi00000670   WBPaper00004651   Observed
hermaphrodite self sterile

"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]
Allele: WBPerson261   WBVar00090578   Observed
hermaphrodite sterile

"Hermaphrodites fail to generate viable self-progeny and/or cross-progeny." [WB:WBPerson2021, WB:WBPerson557]
Allele: WBVar00090593   WBPaper00003405   Observed
late embryonic arrest

"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]
Allele: WBVar00090593   WBPaper00003405   Observed
one cell arrest early emb

"Embryos fail to divide and arrest as one-cell embryos." [WB:cab, WB:cgc5599]
Allele: WBVar00090578   WBPaper00003405   Observed
Allele: WBVar00090592   WBPaper00003405   Observed
Allele: WBVar00090593   WBPaper00003405   Observed
oocyte morphology variant

"Haploid female germ cells (oocytes) exhibit variations in their overall structure, appearance or contents compared to control." [WB:WBPaper00001883, WB:WBPerson2021]
Allele: WBVar00090592   WBPaper00003405   Observed
squashed vulva

"The apparent partial collapse of the vulval invagination and the elongation of central vulva cells often leading to a flattened appearance." [WB:WBPaper00003405]
Allele: WBVar00090578   WBPaper00003405   Observed
Allele: WBVar00090592   WBPaper00003405   Observed
Allele: WBVar00090593   WBPaper00003405   Observed
sterile

"Animals generate defective gametes, are otherwise unable to reproduce or they generate progeny that are unable to reproduce." [GO:0000003, WB:WBPerson712]
Allele: WBVar00090578   WBPaper00003405   Observed
Allele: WBVar00090592   WBPaper00003405   Observed
vulval invagination variant L4

"The characteristic Christmas-tree shaped invagination formed by the terminal vulval cells at the mid-late L4 stage is altered." [WB:WBPaper00001738, WB:WBPerson2021]
Allele: WBPerson261   WBVar00090578   Observed


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