| JCEG ID |
JCEG132 |
| Name |
hse-5
WormBase
|
| Human Ortholog |
GGDB:GLCE
OMIM:
612134
OrthoList :
GLCE
(Ensembl Compara)
GWAS Catalog
| STREAM | RAF | p-value | OR | BETA | CI | Study |
| DOWNSTREAM |
0.26 |
0.000002
(percent change)
|
|
1.7
(percent increase)
|
[0.92-2.48] |
23118302
|
|
Chu AY 2012-11-01 Circ Cardiovasc Genet
Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.
|
|
| Family Name |
HS C5 epimerase |
| Locus Tag |
B0285.5
|
| RNAi phenotype |
|
phenotype
|
|
|
Microscope observation (Image)
|
|
|
COPAS (Image)
|
|
|
hsp-4::GFP (Image)
|
|
|
| Sequence Features |
|
| Sequence |
CDS
ATGAAATGTCTGCGGTGGCGATCAAATCGCCATCGAATCTATCTTCTGGTGGCTTGTGGA
GCATTATTTCTGCTCAATAGGCACCTGACACAGGAAGAGTCAAGAATTGATGAAGAAGAT
GAAGAGCTCACACAGGTTGATGTGAACGAGGATGATAAGAAAATCGAATGTGAACCACCT
GGATCAATTGAATCAAAATGTATAGCAGACAATGGAAAATCAATGAAATGTTGGAAAGAT
GAAGAAGATGTTTATTTTCCTGTTTCTTATCTCAAAAAACGATTCGATATGACTGGAAAA
TTGGGAAAAGATGGTTCAACATTTGAATTATACACTTCTTATGCAAAAATGAGAAGTCCT
GATTCGACATACGATCCTCTTGGTCCATTTGGACATTTTTCGACGTATAGTGTGGAAACT
AGAGATCGTGTACGATGTGTCAGCGCGAAAACCGATGTTCCAATGTCAACACAGTGGGAT
CCAATTCCATACTACTACCCCATTCAAATATCCCAATACGGACTACAACATTATAGTAGA
ATGAAGCTTGATTCAATATCCAATAAATCTGAAGCTTCTCCGAAAGATGACGTCATTCTG
GGAGTAAATTCAAAAGAATGGAAAGGAGCTGCTGGAATGCATGAAACAACTGAACGATTG
TTTTTTAATGATGAACAAATGGGAAAAGTTGTGAATATAAGTGCTGGAGCTGCCCTTGCA
AATGCCGGAGCATATGTATATCTCGACAAATCACCGGATCTTCATGTAATTTCATTTGAT
TGGAAACCGTATGAGGCGAATTCTTCGTTCACTGTATTGGCGAAAATGAAGCAAGACGAT
CTTCTTGTTCTGATCAACTATGTCTACTCGGAAGGAAACGGGAAATGTGTATGGCAAGAG
GAAGAACGTATTTCTGATGATTATATAGTTCAAAAACCAAAAAAAGATGGACAAGTATCA
TATTCGTATTCTTATATTGGAAATTCACCAATTGGAGAATGGTCTACAGTAACACGTGAT
CTTCTTGTCGACGTGGCAAGAGCATTATCCAGTGGAGATAATAGGAAGAAAGATGATAAT
GTCGTTTTGCATGCGGGAGATCTTCGTCTAGTTTCTCTTGGATTCCGCGGTGAGCTCACC
GTAAAGCAAAAAATAACACAACGACGTGAACAACATTCTCATGCATTCTATGCGGCAGCT
GATTGGTTGGTAAAGAATCAAAATGATCGAGGAGGATGGTCGGTTCCTGTGGAAAGATCA
ATTGCCGAGAGAAAGTTGGTTTTACCACCCGGATGGCACAGTGCTATGGCTCAAGGACAC
GGAATATCAGTTCTAACTCGTGCATTCAAACATTTCAACGATGAAAAATATTTGAAATCT
GCAGCAAAAGCTCTGAAACTATTCAAAATTAACTCATCAGACGGCGGTGTTCGTGGAGAA
TTTTTTGGAAATATTTGGTATGAGGAATATCCAACAACACCGGGATCTTTTGTGCTCAAT
GGATTCCTTTATTCACTTATTGGACTTTATGATCTTTCACAATTGGAATTGATGATTGAT
GAAAATGATGAAACAATGCGGGCGAAAATTCAAGAGGCACAAGAATTATATTCAGCAGGT
GTCCGATCACTGAAACAACTTCTCCCTTTATATGATACTGGTAGTGGAACGATTTATGAT
CTTCGTCACGTTGCTTTGGGAACTGCACCGAATCTTGCAAGATGGGATTATCATGCTGTA
CATGTGTACTTATTGAAATGGATTGCTGGAATTGAAAAAGATGAAGTTTTGAGTAAAACA
GCAGATCGATGGATTGGATACGCGTATGGAAAACGGGCAAAACATAATTAA
|
Protein
MKCLRWRSNRHRIYLLVACGALFLLNRHLTQEESRIDEEDEELTQVDVNEDDKKIECEPP
GSIESKCIADNGKSMKCWKDEEDVYFPVSYLKKRFDMTGKLGKDGSTFELYTSYAKMRSP
DSTYDPLGPFGHFSTYSVETRDRVRCVSAKTDVPMSTQWDPIPYYYPIQISQYGLQHYSR
MKLDSISNKSEASPKDDVILGVNSKEWKGAAGMHETTERLFFNDEQMGKVVNISAGAALA
NAGAYVYLDKSPDLHVISFDWKPYEANSSFTVLAKMKQDDLLVLINYVYSEGNGKCVWQE
EERISDDYIVQKPKKDGQVSYSYSYIGNSPIGEWSTVTRDLLVDVARALSSGDNRKKDDN
VVLHAGDLRLVSLGFRGELTVKQKITQRREQHSHAFYAAADWLVKNQNDRGGWSVPVERS
IAERKLVLPPGWHSAMAQGHGISVLTRAFKHFNDEKYLKSAAKALKLFKINSSDGGVRGE
FFGNIWYEEYPTTPGSFVLNGFLYSLIGLYDLSQLELMIDENDETMRAKIQEAQELYSAG
VRSLKQLLPLYDTGSGTIYDLRHVALGTAPNLARWDYHAVHVYLLKWIAGIEKDEVLSKT
ADRWIGYAYGKRAKHN
|
| References |
Bulow HE, Hobert O
Neuron
(2004)
41
(5)
:723-36
[PMID : 15003172]
Differential sulfations and epimerization define heparan sulfate specificity in nervous system development.
Rhiner C, Gysi S, Frohli E, Hengartner MO, Hajnal A
Development
(2005)
132
(20)
:4621-33
[PMID : 16176946]
Syndecan regulates cell migration and axon guidance in C. elegans.
Berninsone PM
WormBook
(2006)
:1-22
[PMID : 18050430]
Carbohydrates and glycosylation.
Hudson ML, Kinnunen T, Cinar HN, Chisholm AD
Dev. Biol.
(2006)
294
(2)
:352-65
[PMID : 16677626]
C. elegans Kallmann syndrome protein KAL-1 interacts with syndecan and glypican to regulate neuronal cell migrations.
Gumienny TL, MacNeil LT, Wang H, de Bono M, Wrana JL, Padgett RW
Curr. Biol.
(2007)
17
(2)
:159-64
[PMID : 17240342]
Glypican LON-2 is a conserved negative regulator of BMP-like signaling in Caenorhabditis elegans.
Byrne AB, Weirauch MT, Wong V, Koeva M, Dixon SJ, Stuart JM, Roy PJ
J. Biol.
(2007)
6
(3)
:8
[PMID : 17897480]
A global analysis of genetic interactions in Caenorhabditis elegans.
Schmitz C, Kinge P, Hutter H
Proc. Natl. Acad. Sci. U.S.A.
(2007)
104
(3)
:834-9
[PMID : 17213328]
Axon guidance genes identified in a large-scale RNAi screen using the RNAi-hypersensitive Caenorhabditis elegans strain nre-1(hd20) lin-15b(hd126).
Bulow HE, Tjoe N, Townley RA, Didiano D, van Kuppevelt TH, Hobert O
Curr. Biol.
(2008)
18
(24)
:1978-85
[PMID : 19062279]
Extracellular sugar modifications provide instructive and cell-specific information for axon-guidance choices.
Tornberg J, Sykiotis GP, Keefe K, Plummer L, Hoang X, Hall JE, Quinton R, Seminara SB, Hughes V, Van Vliet G, Van Uum S, Crowley WF, Habuchi H, Kimata K, Pitteloud N, Bulow HE
Proc. Natl. Acad. Sci. U.S.A.
(2011)
108
(28)
:11524-9
[PMID : 21700882]
Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.
Townley RA, Bulow HE
J. Biol. Chem.
(2011)
286
(19)
:16824-31
[PMID : 21454666]
Genetic analysis of the heparan modification network in Caenorhabditis elegans.
Shaye DD, Greenwald I
PLoS ONE
(2011)
6
(5)
:e20085
[PMID : 21647448]
OrthoList: a compendium of C. elegans genes with human orthologs.
Attreed M, Desbois M, van Kuppevelt TH, Bulow HE
Nat. Methods
(2012)
9
(5)
:477-9
[PMID : 22466794]
Direct visualization of specifically modified extracellular glycans in living animals.
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.
|
| Functional Descriptions |
hse-5
hse-5 encodes the C. elegans ortholog of the heparan sulfate modifying enzyme glucuronyl C5-epimerase; by homology, HSE-5 is predicted to function in heparan sulfate biosynthesis by catalyzing the chain-modifying epimerization of glucuronic acid to iduronic acid; during development, hse-5 activity is required for normal body size, locomotion, and nervous system development; an hse-5::gfp transcriptional reporter fusion is expressed beginning at early embryonic stages and continuing through adulthood; expression in embryos is nearly ubiquitous with later expression primarily restricted to the hypodermis and intestine.
|
| Deletion Mutants |
|
| In Situ |
|
| Expression |
Expression
| db_name |
wbbt |
name |
def |
reliability |
expr_pattern |
paper |
WormAtlas |
| WB |
WBbt:0005733
|
hypodermis |
"epidermal layer" [WB:pws] |
Certain |
WB:Expr2903
|
WBPaper00006471
|
|
| WB |
WBbt:0005733
|
hypodermis |
"epidermal layer" [WB:pws] |
Enriched |
WBPaper00037950 : hypodermis_larva_enriched
|
WBPaper00037950
|
|
| 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 |
WBPaper00040985 : AIN-2_L4_intestine
|
WBPaper00040985
|
WormAtlas
|
|
WBGene00002003
Phenotype
Homology_paralog
|
|
|
| Phenotype |
Definition |
RNAi / Allele |
axon fasciculation variant
|
"The ability of axons to converge and form a bundle of nerve fibres (fascicle) is compromised." [GO:0007413, WB:WBPerson2021, WB:WBPerson557]
|
|
axon guidance variant
|
"Variations in the cue-directed extension of an axon towards a specific target site compared to control. (Axon guidance often depends on a combination of attractive and repulsive cues)." [GO:0048846, WB:WBPerson2021]
|
|
axon midline crossing variant
|
"Regulated ventral midline crossing by axons vary either in the frequency of crossing events or the maintenance through development of process positions compared to control." [GO:0016199, WB:WBPaper00032007, WB:WBPerson712]
|
|
commissure handedness defective
|
"Outgrowth of the commissure occurs on the side of the body different from that observed in control animals." [WB:WBPaper00032007, WB:WBPerson712]
|
|
cord commissures fail to reach target
|
"Axon tracts fail to complete the connection between nerve cords. In C. elegans, these tracts grow circumferentially around the animal, completing the connection between the ventral and dorsal nerve cords." [WB:WBPaper00001499, WB:WBPaper00028984, WB:WBPerson712]
|
|
|
dauer constitutive
|
"Formation of dauer larvae under conditions that do not favor dauer formation." [WB:kmva]
|
|
dauer lifespan extended
|
"The life span of dauer-staged animals is longer than that observed in control dauer animals." [WB:WBPaper00032396, WB:WBPerson2987]
|
|
ectopic neurite outgrowth
|
"Any variation that causes an increase in the frequency of neurite (axon or dendrite) outgrowth. As a result, an excess number of neuronal projections are generated." [WB:WBPerson2021]
|
|
|
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]
|
|
|
HSN migration variant
|
"Any variation in the normal anterior movement of the HSN motor neurons from their birthplace in the tail to positions near the middle of the embryo compared to control animals." [WB:WBPaper00001836, WB:WBPerson2021]
|
|
|
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]
|
|
|
lethal
|
"Animals die prematurely at any stage of the life cycle." [WB:WBPaper00001109, WB:WBPerson2021]
|
|
|
locomotion variant
|
"Animals exhibit deviations in self-propelled movement on a solid medium compared to control animals." [GO:0040011, WB:cab, WB:WBPaper00024949, 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]
|
|
|
nervous system morphology variant
|
"Animals exhibit variations in the structure or organization of any component that is part of the complement of organ tissues that serve to detect, relay and coordinate information about an animal's internal and external environments and to initiate and integrate its effector responses and activities, compared to that in control animals." [WB:WBPerson712]
|
|
organism development variant
|
"Any variation in the progression of a worm at any time from its fertilization to adulthood compared to control." [WB:cab]
|
|
|
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]
|
|
Q neuroblast lineage migration variant
|
"The daughters of the Q neuroblasts exhibit variation in their characteristic movements compared to control animals." [WB:WBPaper00001954, WB:WBPaper00031356, WB:WBPerson712]
|
|
|
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]
|
|
|
SM migration variant
|
"Variations in the movement of sex myoblasts compared to control animals. In C. elegans, the larval SM migrate anteriorly to the precise center of the developing hermaphrodite gonad." [WB:WBPaper00003627, WB:WBPerson2021]
|
|
small
|
"Animals are shorter and thinner than control animals at the same developmental stage." [WB:cab, WB:cgc31]
|
|
|
sterile
|
"Animals generate defective gametes, are otherwise unable to reproduce or they generate progeny that are unable to reproduce." [GO:0000003, WB:WBPerson712]
|
|
|
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]
|
|
