| JCEG ID |
JCEG171 |
| Name |
C47F8.6
WormBase
NCBI Gene
|
| Human Ortholog |
GGDB:B3GALT1
OMIM:
603095
604066
605863
615313
615315
615357
OrthoList :
B3GALT1
B3GALT2
B3GALT4
B3GALNT1
B3GALT5
(Ensembl Compara)
GWAS Catalog
| STREAM | RAF | p-value | OR | BETA | CI | Study |
| MAPPED |
0.103 |
0.000002
(Amylin )
|
|
0.03
(pM increase)
|
[NR] |
23251661
|
|
Comuzzie AG 2012-12-04 PLoS One
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
|
| MAPPED |
0.083 |
0.000008
(Diet fat )
|
|
0.04
(%energy increase)
|
[NR] |
23251661
|
|
Comuzzie AG 2012-12-04 PLoS One
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
|
| DOWNSTREAM |
0.04 |
0.000000002
(KvDMR 21)
|
|
|
|
23725790
|
|
Renteria ME 2013-06-03 Twin Res Hum Genet
GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
|
Option tblastn : Query Worm Protein, Subject GGDB mRNA, E-val < 0.00001
|
| Family Name |
b3GalT1/b3GnT orthologs |
| Locus Tag |
C47F8.6
|
| RNAi phenotype |
|
phenotype
|
WT
|
|
Microscope observation (Image)
|
|
|
COPAS (Image)
|
Normal
|
|
hsp-4::GFP (Image)
|
|
|
| Sequence Features |
tm:soluble
dxd:Detected
gg_motif:M1,M2,M3
|
| Sequence |
CDS
atgcctcgattcaatcgtctctctgtattattgccaattttaatatttac
attttggtttctatgtctaaaaagttctgaaaaagttgaagaaccttcac
tgctagccgacgaagctcccaagcaaaactgcacaaaaaatgggtggctg
ggaggctcaaccgcccccgaaactcaagactttggctcggaattcatgat
ttcgttcgcaaatattcagaagaactacacctggctctaccttcccacaa
tcgaggagacatccaaagaaacggatattctaatgatagtcgcctcgagg
acagatagctatgcccggaggaatatcatgcggcagacctggatgaataa
gtccaacagtgagattgtagcgaatgggaggatgaaatcattgttcctgg
tgggactagcgcctgctgactataaagtgaagaagatggtcatgcaggag
gctaaactctatggggatataattatagttgatatggatgacacttatga
agagctgatctataagtccctgatgatatttctcttcggagtcagcaaag
ctccacaatacaaaataatcgggaaaatcgacgaggacatcatgttcttc
ccggataagcttatggctctctacgagcaaggtatcatagattccacccc
agtgagcctttacggactagttatcccagccgggcgggacatattccgtg
ataagaccaatcggtggtatgtccctgaatctgcctactcttgctctcaa
taccctgcttatctttctggcatgtactatatggctacgcgggaggctgc
tcagatgctcttaaagtcaactaagcaccgagattttattcaggtagaag
acgttttgctcacaggaattcttgcggaagatctgggaatcccgataagg
gacatgccgaagctctacaaattcccacatgacataaagaaaaacgacaa
caaggacattattgcatggcacaactacaagaataatatcccatacttga
actttttcatgaaaggattggccagatatcgatctgagaagggtttgacg
aggacttcgacgacttctggatag
|
Protein
MPRFNRLSVLLPILIFTFWFLCLKSSEKVEEPSLLADEAPKQNCTKNGWLGGSTAPETQD
FGSEFMISFANIQKNYTWLYLPTIEETSKETDILMIVASRTDSYARRNIMRQTWMNKSNS
EIVANGRMKSLFLVGLAPADYKVKKMVMQEAKLYGDIIIVDMDDTYEELIYKSLMIFLFG
VSKAPQYKIIGKIDEDIMFFPDKLMALYEQGIIDSTPVSLYGLVIPAGRDIFRDKTNRWY
VPESAYSCSQYPAYLSGMYYMATREAAQMLLKSTKHRDFIQVEDVLLTGILAEDLGIPIR
DMPKLYKFPHDIKKNDNKDIIAWHNYKNNIPYLNFFMKGLARYRSEKGLTRTSTTSG
|
| References |
|
| Functional Descriptions |
C47F8.6
none available
|
| Deletion Mutants |
|
| 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
|
|
|
WBGene00008162
Phenotype
Homology_paralog
|
|
|
| Phenotype |
Definition |
RNAi / Allele |
|
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]
|
|
|
larval arrest
|
"The developmental program of the animals halts at any larval stage and thus fails to reach adulthood. In C.elegans, this occurs anytime during L1-L4 stage." [WB:WBPaper00002958, WB:WBPerson2021]
|
|
|
larval lethal
|
"The animal dies at any time between hatching and onset to adulthood." [GO:0002119, WB:WBPerson712]
|
|
|
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]
|
|
|
slow growth
|
"Any variation that causes a reduction in growth rate compared to control." [WB:cab, WB:WBPaper00004402, WB:WBPaper00004403, WB:WBPaper00004651, WB:WBPaper00004769, WB:WBPaper00005654, WB:WBPaper00006395, WB:WBPaper00024497, WB:WBPerson557]
|
|
|
sterile progeny
|
"Any variation that compromises the reproductive ability of the progeny of an animal." [WB:WBPerson2021, WB:WBPerson557]
|
|
|
Variant
|
"Animals exhibit variations compared to a given control." [WB:WBPerson557]
|
|
