JCEG ID |
JCEG018 |
Name |
C38H2.2
WormBase
NCBI Gene
|
Human Ortholog |
GGDB:C1GALT1
OMIM:
300611
300622
OrthoList :
C1GALT1
(Ensembl Compara)
GWAS Catalog
STREAM | RAF | p-value | OR | BETA | CI | Study |
DOWNSTREAM |
|
0.0000002
(PCB105)
|
|
1.32
(unit decrease)
|
[0.83-1.81] |
25839716
|
|
Ng E 2015-04-02 Environ Res
Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.
|
MAPPED |
0.46 |
0.000004
|
|
|
[NR] |
19010793
|
|
Baranzini SE 2008-11-14 Hum Mol Genet
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
|
MAPPED |
0.444 |
0.000001
|
|
0.099
(unit decrease)
|
[0.06-0.138] |
24159190
|
|
Seppala I 2013-10-24 Eur Heart J
Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
|
MAPPED |
0.444 |
0.0000006
|
|
0.101
(unit increase)
|
[0.062-0.14] |
24159190
|
|
Seppala I 2013-10-24 Eur Heart J
Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
|
Option tblastn : Query Worm Protein, Subject GGDB mRNA, E-val < 0.00001
|
Family Name |
Core 1 GalT |
Locus Tag |
C38H2.2
|
RNAi phenotype |
phenotype
|
|
Microscope observation (Image)
|
|
COPAS (Image)
|
Normal
|
hsp-4::GFP (Image)
|
|
|
Sequence Features |
kr:Detected
tm:Detected
dxd:DDD
gg_motif:M1,M2,M3,M4,M5,M6
|
Sequence |
CDS
atggcaaactggccacgtgtttctcctctcgcctacgtggcgcttggcgt tcttctcggtttgaccatttcaataatatctcagacgggaacgacaacct acgacgctgcctcacggatagccatactacgagccaaccgaggggatcca caagttgacgagcacgatcatgcacatggaaatgatccgcacggagacga agaagtcgacgatcatcacgcgaactttgcgcccgtccaattccattcca acaactcatcgcatagccatgatggtgaaagtctgatagccgacgaagtt gcgaagaaggttcgcgtcttctgttggattctcaccggaaaacagaatca cgataaacgcgcgaaacacgtcaaagccacctgggccaagcggtgtaata agtacgtattcatgtcatcagaagaggatgcagaactcccagccatcaac ctaaatgtctctgaaggcagagattacttgtgggcaaaaacaaaaggagc attcaaatacatttatgaccatcacctgaacgactacgactggttcctga aagccgacgacgatacctatgtggtgatggaaaatctccggttcatgcta ttggctcattcaccggatgagccaattcactttggatgcaagtttaagcc attcacacagggaggatatcatagtggtggagctggatatgtgctcagtc gggaggcactgaaaaaattcattgaagtagcgctgccggacaaatcgttg tgctctcagaatcatggtggagccgaggatgcggagatgggcaaatgctt ggagaaggttggagtgaaagctggagattccagagatgccgatggacatc atagattcatgcctttcgtgccggaacatcacttgtcgcctggccacgtt gaccccaagttctggttctggcagtacacttactacccaatggatcaagg acctacgtgttgctctgattacgcagtctccttccactacgtcaacccga acttgatgtatgtgctcgagtatctcatctatcacttgaagcctttcggt atcgatcgcgcgattcgagtgccaaagaacgaaacaataatccatacggc ttattcgatctctcgatccgaacgtggacaagacgatgcgttccgggatc ggccggaagttgctgtataa
|
Protein
MANWPRVSPLAYVALGVLLGLTISIISQTGTTTYDAASRIAILRANRGDPQVDEHDHAHG NDPHGDEEVDDHHANFAPVQFHSNNSSHSHDGESLIADEVAKKVRVFCWILTGKQNHDKR AKHVKATWAKRCNKYVFMSSEEDAELPAINLNVSEGRDYLWAKTKGAFKYIYDHHLNDYD WFLKADDDTYVVMENLRFMLLAHSPDEPIHFGCKFKPFTQGGYHSGGAGYVLSREALKKF IEVALPDKSLCSQNHGGAEDAEMGKCLEKVGVKAGDSRDADGHHRFMPFVPEHHLSPGHV DPKFWFWQYTYYPMDQGPTCCSDYAVSFHYVNPNLMYVLEYLIYHLKPFGIDRAIRVPKN ETIIHTAYSISRSERGQDDAFRDRPEVAV
|
References |
Berninsone PM
WormBook
(2006)
:1-22
[PMID : 18050430]
Carbohydrates and glycosylation.
Ju T, Zheng Q, Cummings RD
Glycobiology
(2006)
16
(10)
:947-58
[PMID : 16762980]
Identification of core 1 O-glycan T-synthase from Caenorhabditis elegans.
Shaye DD, Greenwald I
PLoS ONE
(2011)
6
(5)
:e20085
[PMID : 21647448]
OrthoList: a compendium of C. elegans genes with human orthologs.
|
Functional Descriptions |
C38H2.2
C38H2.2 encodes a core 1 UDP-Gal:GalNAcalpha1-Ser/Thr beta1,3-galactosyltransferase (core 1 beta3-Gal-T or T-synthase, EC2.4.1.122); C38H2.2 protein is predicted to be primarily extracellular, with an N-terminal transmembrane domain; C38H2.2 shares 6 conserved cysteine residues with all known T-synthases, and is ubiquitously expressed; enzymatically active C38H2.2 can be generated from insect but not mammalian cells, suggesting that invertebrate-specific chaperones are required for its activity.
|
Deletion Mutants |
ok2175
|
In Situ |
In Situ
|
Expression |
Expression
db_name |
wbbt |
name |
def |
reliability |
expr_pattern |
paper |
WormAtlas |
WB |
WBbt:0003679
|
neuron |
"Major cell type of nervous tissue, specialized for transmission of information in the form of patterns of impulses." [ISBN:0140512888] |
Enriched |
WBPaper00031532 : Larva_Pan_Neuronal_Enriched
|
WBPaper00031532
|
WormAtlas
|
WB |
WBbt:0003681
|
pharynx |
"the feeding organ, a neuro-muscular pump in the head of the animal, used to ingest food, bacteria suspended in liquid, filter them out, grind them up and transport posteriorly into the instestine." [WB:rynl] |
|
WB:Expr5473
|
WBPaper00006525
|
WormAtlas
|
WB |
WBbt:0003681
|
pharynx |
"the feeding organ, a neuro-muscular pump in the head of the animal, used to ingest food, bacteria suspended in liquid, filter them out, grind them up and transport posteriorly into the instestine." [WB:rynl] |
Enriched |
|
WBPaper00029359
|
WormAtlas
|
WB |
WBbt:0004017
|
Cell |
"a cellular object that consists of subcellular components, expresses genes or functions." [WB:rynl] |
Certain |
WB:Expr4234
|
WBPaper00027670
|
|
WB |
WBbt:0005319
|
spermatheca |
"an accordion-like tube that contains sperm and is the site of oocyte fertilization." [WBPaper:00038216] |
|
WB:Expr5473
|
WBPaper00006525
|
WormAtlas
|
WB |
WBbt:0005735
|
nervous system |
"Complement of nervous tissue (neurones, nerves, receptors and support cells) serving to detect, relay and coordinate information about an animal's internal and external environments and to initiate and integrate its effector responses and activities." [ISBN:0-14-051288-8, WB:rynl] |
|
WB:Expr5473
|
WBPaper00006525
|
WormAtlas
|
WB |
WBbt:0005738
|
body region |
"region of the body by which tissues, cells or cell parts are classified" [WBPaper:00038216] |
Partial |
WB:Expr5473
|
WBPaper00006525
|
|
WB |
WBbt:0005741
|
tail |
"posterior region, from rectum to the end" [WB:rynl] |
Partial |
WB:Expr5473
|
WBPaper00006525
|
WormAtlas
|
WB |
WBbt:0005747
|
reproductive system |
|
|
WB:Expr5473
|
WBPaper00006525
|
|
WB |
WBbt:0005772
|
intestine |
"A chain of very large cuboidal cells forming a wide central lumen in which food arrives from the posterior pharynx, is digested, and from which waste products proceed to the rectum. Intestinal rings form in groups of two and four cells surrounding the common lumen; thus the epithelium is only one cell deep at any point, with neighboring cells firmly secured to their neighbors by apical adherens junctions. These cells have very large nuclei and many large vacuoles, yolk granules, and other inclusions; the latter increase in number and electron density as the animal ages." [WBPaper:00038216] |
|
WB:Expr5473
|
WBPaper00006525
|
WormAtlas
|
WB |
WBbt:0005772
|
intestine |
"A chain of very large cuboidal cells forming a wide central lumen in which food arrives from the posterior pharynx, is digested, and from which waste products proceed to the rectum. Intestinal rings form in groups of two and four cells surrounding the common lumen; thus the epithelium is only one cell deep at any point, with neighboring cells firmly secured to their neighbors by apical adherens junctions. These cells have very large nuclei and many large vacuoles, yolk granules, and other inclusions; the latter increase in number and electron density as the animal ages." [WBPaper:00038216] |
Enriched |
|
WBPaper00029359
|
WormAtlas
|
WB |
WBbt:0005788
|
pharyngeal gland cell |
"secretory gland cell of the pharynx" [WB:rynl] |
|
WB:Expr5473
|
WBPaper00006525
|
WormAtlas
|
WB |
WBbt:0005799
|
rectal gland cell |
|
|
WB:Expr5473
|
WBPaper00006525
|
WormAtlas
|
WB |
WBbt:0005813
|
body wall musculature |
"Longitudinal bands of muscle cells surrounding animal body, with one band running in each quadrant of the body, regulated contraction and relaxation of these muscles cause locomotion." [ISBN:0-87969-433-5] |
Enriched |
|
WBPaper00029359
|
WormAtlas
|
WB |
WBbt:0006748
|
vulva |
"female genital." [WB:rynl] |
|
WB:Expr5473
|
WBPaper00006525
|
WormAtlas
|
WB |
WBbt:0006751
|
head neuron |
"neuron with its cell body situated in the head, excluding the pharynx." [WB:rynl] |
|
WB:Expr5473
|
WBPaper00006525
|
|
|
WBGene00008019
Phenotype
Homology_paralog
|
|
Phenotype |
Definition |
RNAi / Allele |
embryonic development variant
|
"Variations in the progression of an embryo over time, from zygote formation to hatching compared to control." [GO:0009790, WB:WBPerson2021]
|
|
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]
|
|
maternal sterile
|
" Animals produce no or very few embryos as a result of experimental treatment. This is in contrast to sterility due to genetic perturbations (maternal effect sterility)." [WB:cab, WB:cgc5599, WB:cgc7141, WB:WBPerson557]
|
|
organism morphology variant
|
"Animals exhibit variations in the form, structure or composition of any part of their anatomy compared to control animals." [WB:cab, WB:WBPaper00004402, WB:WBPaper00004403, WB:WBPaper00004651, WB:WBPaper00005654, WB:WBPaper00006395]
|
|
postembryonic development variant
|
"Any variation in the progression of an animal over time, from hatching to adulthood, compared to control." [WB:WBPerson2021]
|
|
Variant
|
"Animals exhibit variations compared to a given control." [WB:WBPerson557]
|
|