JCEG ID JCEG125
Name sqv-5      WormBase    NCBI Gene
Human Ortholog

GGDB:CHSY1 CHPF CHSY3 CHPF2 CSGALNACT1 CSGALNACT2 

OMIM: 605282 608183 609963

OrthoList :   CHSY1   CHSY3  (Ensembl Compara)

GWAS Catalog
STREAMRAFp-valueORBETACIStudy
MAPPED 0.000007 0.226 (unit increase) [NR] 23322567
MAPPED 0.0000002 2.14 [1.53-2.99] 23726668
MAPPED 0.66 0.000000002 0.08 (unit decrease) [0.06-0.1] 23291589
MAPPED 0.601 0.000001 0.022 (unit increase) [NR] 25201988
UPSTREAM 0.31 0.000002 (ETV6-RUNX1 positive) 1.19 [1.07 - 1.33] 22076464
UPSTREAM 0.31 0.000000006 (ETV6-RUNX1 positive, Northern European) 22076464
GGDB Score E-val
CSS3 485 e-139
CHSY1 475 e-136
CSGALNACT2 127 6e-31
CSGALNACT1 119 3e-28
CHPF 118 3e-28
CSGlcA-T 118 4e-28
C1GALT1 63 2e-11
Option tblastn : Query Worm Protein, Subject GGDB mRNA, E-val < 0.00001
Family Name Glycosaminoglycan (GAG ) and Chitin synthesis genes
Locus Tag T24D1.1
RNAi phenotype
phenotype Emb (83% n=12, see reference)
Microscope observation (Image)
COPAS (Image)

Normal

hsp-4::GFP (Image)
Sequence Features tm:Detected
dxd:DVD
kr:Detected
gg_motif:M1, M2, M3, M4, M5, 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.

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.

Hwang HY, Olson SK, Esko JD, Horvitz HR Nature (2003) 423 (6938) :439-43 [PMID : 12761549] Caenorhabditis elegans early embryogenesis and vulval morphogenesis require chondroitin biosynthesis.

White J, Bednarek S Curr. Biol. (2003) 13 (18) :R717-8 [PMID : 13678612] Cytokinesis: GAGs form the walls that separate our parts.

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.

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.

Izumikawa T, Kitagawa H, Mizuguchi S, Nomura KH, Nomura K, Tamura J, Gengyo-Ando K, Mitani S, Sugahara K J. Biol. Chem. (2004) 279 (51) :53755-61 [PMID : 15485872] Nematode chondroitin polymerizing factor showing cell-/organ-specific expression is indispensable for chondroitin synthesis and embryonic cell division.

Rual JF, Ceron J, Koreth J, Hao T, Nicot AS, Hirozane-Kishikawa T, Vandenhaute J, Orkin SH, Hill DE, van den Heuvel S, Vidal M Genome Res. (2004) 14 (10B) :2162-8 [PMID : 15489339] Toward improving Caenorhabditis elegans phenome mapping with an ORFeome-based RNAi library.

Podbilewicz B Nat. Cell Biol. (2004) 6 (1) :9-11 [PMID : 14704673] Sweet control of cell migration, cytokinesis and organogenesis.

Sternberg PW WormBook (2005) :1-28 [PMID : 18050418] Vulval development.

Tamas I, Hodges E, Dessi P, Johnsen R, Vaz Gomes A BMC Genomics (2005) 6 :65 [PMID : 15877817] A combined approach exploring gene function based on worm-human orthology.

Blacque OE, Perens EA, Boroevich KA, Inglis PN, Li C, Warner A, Khattra J, Holt RA, Ou G, Mah AK, McKay SJ, Huang P, Swoboda P, Jones SJ, Marra MA, Baillie DL, Moerman DG, Shaham S, Leroux MR Curr. Biol. (2005) 15 (10) :935-41 [PMID : 15916950] Functional genomics of the cilium, a sensory organelle.

Fernandez AG, Gunsalus KC, Huang J, Chuang LS, Ying N, Liang HL, Tang C, Schetter AJ, Zegar C, Rual JF, Hill DE, Reinke V, Vidal M, Piano F Genome Res. (2005) 15 (2) :250-9 [PMID : 15687288] New genes with roles in the C. elegans embryo revealed using RNAi of ovary-enriched ORFeome clones.

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.

Olson SK, Bishop JR, Yates JR, Oegema K, Esko JD J. Cell Biol. (2006) 173 (6) :985-94 [PMID : 16785326] Identification of novel chondroitin proteoglycans in Caenorhabditis elegans: embryonic cell division depends on CPG-1 and CPG-2.

Suzuki N, Toyoda H, Sano M, Nishiwaki K Dev. Biol. (2006) 300 (2) :635-46 [PMID : 16982046] Chondroitin acts in the guidance of gonadal distal tip cells 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.

Olson SK, Greenan G, Desai A, Muller-Reichert T, Oegema K J. Cell Biol. (2012) 198 (4) :731-48 [PMID : 22908315] Hierarchical assembly of the eggshell and permeability barrier in C. elegans.

Pedersen ME, Snieckute G, Kagias K, Nehammer C, Multhaupt HA, Couchman JR, Pocock R Science (2013) 341 (6152) :1404-8 [PMID : 24052309] An epidermal microRNA regulates neuronal migration through control of the cellular glycosylation state.

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-5

sqv-5 encodes a chondroitin synthase that both initiates and elongates chondroitin chains (unlike human chondroitin synthase, which only elongates them); SQV-5 is required for cytokinesis (e.g., at the one-cell embryo stage), gonad migration, and vulval morphogenesis (by expanding the extracellular space of the vulva in L4 larvae); the common requirement for SQV-5 in both processes may be to promote filling an extracellular space with fluid (either in the eggshell, or underneath the L4 cuticle); SQV-5 colocalizes with SQV-1 at punctate foci (probably the Golgi apparatus) in the cytoplasm of the vulva, the uterus and oocytes; SQV-5 is most similar to human chondroitin synthase (KIAA0990) and Drosophila CG9220.
Deletion Mutants n3039 n3611 tm546
In Situ
Expression Expression
db_name wbbt name def reliability expr_pattern paper WormAtlas
WB WBbt:0005751

coelomocyte "A free-floating spherical cell lying in the pseudocoelomic cavity of larvae and adult C. elegans which can endocytose many compounds, possibly for immune surveillance. There are six coelomocytes in adult hermaphrodites, and they display prominent cytoplasmic inclusions and vacuoles." [WBPaper:00038216] Enriched WBPaper00037950 : coelomocytes_embryo_SelectivelyEnriched, coelomocytes_embryo_enriched
 WBPaper00037950 WormAtlas
WB WBbt:0006748

vulva "female genital." [WB:rynl] Certain WB:Expr2566 WBPaper00005867 WormAtlas
WB WBbt:0006760

uterus "The organ in which the eggs are developed and protected until laid." [ISBN:0198611862, WB:rynl] Certain WB:Expr2566 WBPaper00005867 WormAtlas
WB WBbt:0006797

oocyte "a female haploid germ cell." [WB:wjc] Certain WB:Expr2566 WBPaper00005867 WormAtlas
WB WBbt:0006831

PVD "Neuron class of two interneurons with cell bodies situated laterally in the posterior body." [WB:Paper00000938] Enriched WBPaper00036375 : enriched_in_PVD_OLL
 WBPaper00036375
WB WBbt:0006847

OLL "Neuron class of two neurons with ciliated endings in the lateral outer labial sensilla." [WB:Paper00000938] Enriched WBPaper00036375 : enriched_in_PVD_OLL
 WBPaper00036375

WBGene00005023
Phenotype
Homology_paralog
Observed Observed and NOT Observed
Phenotype Definition RNAi / Allele
chondroitin biosynthesis variant

"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]
RNAi: WBRNAi00077494   WBPaper00005868   Observed
cytokinesis defective early emb

"Cytokinesis is abnormal in the first or second stages of cell division." [WB:cab, WB:cgc7141]
RNAi: WBRNAi00077491   WBPaper00005868   Observed
early embryonic lethal

"Animal dies prior to the gastrulation stage of embryogenesis." [WB:WBPerson2021]
RNAi: WBRNAi00077491   WBPaper00005868   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: WBRNAi00077493   WBPaper00005868   Observed
RNAi: WBRNAi00061644   WBPaper00024925   Observed
gonad development variant

"Variations in the progression of the organ that produces gametes over time, from its formation to the mature structure compared to control." [GO:0008406, WB:WBPerson2021]
RNAi: WBRNAi00077491   WBPaper00005868   Observed
gonad migration variant

"Variations in the gross movement of the whole structure of the gonad along the body wall, behind the gonadal leader cell and away from the developing vulva compared to control (Wormatlas)." [WB:WBPerson2021, WB:WBPerson557]
RNAi: WBRNAi00077491   WBPaper00005868   Observed
heparan sulfate biosynthesis variant

"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]
RNAi: WBRNAi00077495   WBPaper00005868   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   WBVar00090647   Observed
hermaphrodite sterile

"Hermaphrodites fail to generate viable self-progeny and/or cross-progeny." [WB:WBPerson2021, WB:WBPerson557]
Allele: WBVar00090647   WBPaper00003405   Observed
lethal

"Animals die prematurely at any stage of the life cycle." [WB:WBPaper00001109, WB:WBPerson2021]
RNAi: WBRNAi00078488   WBPaper00025169   Observed
multiple nuclei early emb

"Embryos contain more than one nucleus per cell in the inviable one- to four-cell embryo." [WB:cab, WB:cgc5599]
RNAi: WBRNAi00077491   WBPaper00005868   Observed
RNAi: WBRNAi00077492   WBPaper00005868   Observed
one cell arrest early emb

"Embryos fail to divide and arrest as one-cell embryos." [WB:cab, WB:cgc5599]
Allele: WBVar00090647   WBPaper00003405   Observed
oogenesis variant

"Any aberrancy in the processes that influence the generation and maturation of oocytes compared to control animals." [GO:0048477, WB:WBPerson2021]
Allele: WBVar00090647   WBPaper00003405   Observed
RNAi: WBRNAi00077493   WBPaper00005868   Observed
reduced brood size

"The characteristic number of offspring produced is lower compared to that of control animals." [WB:WBPerson557]
RNAi: WBRNAi00087552   WBPaper00005867   Observed
RNAi: WBRNAi00035919   WBPaper00024497   Observed
RNAi: WBRNAi00078487   WBPaper00025169   Observed
RNAi: WBRNAi00078488   WBPaper00025169   Observed
sick

"Animals exhibit some combination of abnormal features relating to size, movement, body integrity, pigmentation, viability, fertility etc." [WB:WBPaper00000179, WB:WBPaper00000565, WB:WBPerson712]
RNAi: WBRNAi00078487   WBPaper00025169   Observed
RNAi: WBRNAi00078488   WBPaper00025169   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: WBVar00090647   WBPaper00003405   Observed
RNAi: WBRNAi00078487   WBPaper00025169   Observed
RNAi: WBRNAi00078488   WBPaper00025169   Observed
sterile

"Animals generate defective gametes, are otherwise unable to reproduce or they generate progeny that are unable to reproduce." [GO:0000003, WB:WBPerson712]
RNAi: WBRNAi00078487   WBPaper00025169   Observed
RNAi: WBRNAi00078488   WBPaper00025169   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   WBVar00090647   Observed
RNAi: WBRNAi00078487   WBPaper00025169   Observed
RNAi: WBRNAi00078488   WBPaper00025169   Observed


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