Gene

sqv-3

Species
Caenorhabditis elegans
Symbol
sqv-3
Name
SQuashed Vulva 3
Synonyms
  • CELE_R10E11.4
  • R10E11.4
Biotype
protein coding gene
Automated Description
Enables galactosyltransferase activity. Involved in several processes, including egg-laying behavior; positive regulation of axon regeneration; and proteoglycan biosynthetic process. Located in membrane. Used to study Ehlers-Danlos syndrome. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome and Ehlers-Danlos syndrome spondylodysplastic type 1. Orthologous to human B4GALT7 (beta-1,4-galactosyltransferase 7).
WB Description
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.
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR19300
No data available
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources
None
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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      Alleles and Variants

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        Transgenic Alleles

        Species
        (carrying the transgene)
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          Models

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            Sequence Feature Viewer

            Genome location
            Assembly version
            WBcel235
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            9.7788M9.7790M9.7792M9.7794M9.7796M9.7798M9.7800M9.7802M

            Sequence Details

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            Expression

            Primary Sources
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            sqv-3 molecule type
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              Genetic Interactions

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