Ext1 (exostosin glycosyltransferase 1) - Rat Genome Database

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Gene: Ext1 (exostosin glycosyltransferase 1) Mus musculus
Analyze
Symbol: Ext1
Name: exostosin glycosyltransferase 1
RGD ID: 1313967
MGI Page MGI
Description: Enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity and glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. Involved in heparan sulfate proteoglycan biosynthetic process. Acts upstream of with a positive effect on cell surface receptor signaling pathway. Acts upstream of or within with a positive effect on several processes, including heparin biosynthetic process; nervous system development; and podocyte differentiation. Acts upstream of or within with a negative effect on sulfation. Acts upstream of or within several processes, including cell surface receptor signaling pathway; extracellular matrix organization; and skeletal system development. Located in endoplasmic reticulum membrane. Is active in Golgi apparatus. Is expressed in several structures, including alimentary system; brain; extraembryonic component; genitourinary system; and limb. Used to study autism spectrum disorder and hereditary multiple exostoses. Human ortholog(s) of this gene implicated in chondrosarcoma and hereditary multiple exostoses. Orthologous to human EXT1 (exostosin glycosyltransferase 1).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AA409028; exostoses (multiple) 1; exostosin-1; glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; multiple exostoses protein 1 homolog; N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391552,931,657 - 53,209,579 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1552,927,434 - 53,209,555 (-)EnsemblGRCm39 Ensembl
GRCm381553,068,261 - 53,346,183 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1553,064,038 - 53,346,159 (-)EnsemblGRCm38mm10GRCm38
MGSCv371552,899,816 - 53,177,738 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361552,898,622 - 53,176,027 (-)NCBIMGSCv36mm8
Celera1554,621,498 - 54,903,011 (-)NCBICelera
Cytogenetic Map15CNCBI
cM Map1520.0NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-cotinine  (ISO)
1,2-dimethylhydrazine  (EXP)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP)
4-hydroxyphenyl retinamide  (EXP)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (ISO)
amitrole  (ISO)
aristolochic acid A  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (ISO)
bisphenol A  (EXP,ISO)
butan-1-ol  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (EXP)
casticin  (EXP)
CGP 52608  (ISO)
cisplatin  (ISO)
cobalt dichloride  (ISO)
copper(II) sulfate  (ISO)
coumestrol  (ISO)
Cuprizon  (ISO)
cyclosporin A  (ISO)
DDE  (ISO)
Dibutyl phosphate  (ISO)
dibutyl phthalate  (EXP,ISO)
dicyclanil  (EXP)
diuron  (ISO)
dorsomorphin  (ISO)
doxorubicin  (EXP,ISO)
elemental selenium  (ISO)
endosulfan  (ISO)
Enterolactone  (ISO)
ethanol  (EXP)
fenthion  (EXP)
folpet  (EXP)
formaldehyde  (ISO)
gentamycin  (ISO)
leflunomide  (ISO)
lipopolysaccharide  (ISO)
maneb  (EXP)
methidathion  (EXP)
methimazole  (ISO)
methylseleninic acid  (ISO)
nimesulide  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
panobinostat  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP)
picoxystrobin  (ISO)
poly(I:C)  (ISO)
propiconazole  (ISO)
protein kinase inhibitor  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (ISO)
Salinomycin  (ISO)
SB 431542  (ISO)
selenium atom  (ISO)
senecionine  (EXP)
sodium arsenite  (ISO)
Soman  (ISO)
sunitinib  (ISO)
temozolomide  (ISO)
thiram  (ISO)
titanium dioxide  (EXP)
topotecan  (ISO)
trichostatin A  (ISO)
urethane  (ISO)
valproic acid  (ISO)
vinclozolin  (ISO)
vincristine  (ISO)
vitamin E  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
antigen processing and presentation  (IMP)
axon guidance  (IGI,IMP)
basement membrane organization  (IMP)
blood vessel remodeling  (IMP)
BMP signaling pathway  (IDA,IMP)
bone growth  (IMP)
bone morphogenesis  (IMP)
bone resorption  (IMP)
brain development  (IMP)
canonical Wnt signaling pathway  (IMP)
cartilage development involved in endochondral bone morphogenesis  (IMP)
cell adhesion  (IMP)
cell adhesion mediated by integrin  (IMP)
cell fate commitment  (IMP)
cell morphogenesis  (IMP)
cell population proliferation  (IMP)
cell surface receptor signaling pathway  (IMP)
cellular response to BMP stimulus  (IMP)
cellular response to fibroblast growth factor stimulus  (IMP)
cellular response to virus  (IMP)
chondrocyte differentiation  (IMP)
chondrocyte hypertrophy  (IMP)
chondrocyte proliferation  (IMP)
chondroitin sulfate metabolic process  (IMP)
collagen fibril organization  (IMP)
cranial skeletal system development  (IMP)
dendrite self-avoidance  (IMP)
dendritic cell migration  (IMP)
developmental growth involved in morphogenesis  (IMP)
embryonic morphogenesis  (IMP)
embryonic skeletal joint development  (IMP)
endochondral bone growth  (IMP)
endochondral bone morphogenesis  (IGI,IMP)
endochondral ossification  (IMP)
endoderm development  (IMP)
epithelial tube branching involved in lung morphogenesis  (IMP)
epithelium development  (IMP)
fear response  (IMP)
fibroblast growth factor receptor signaling pathway  (IDA,IMP)
fluid transport  (IGI)
gastrulation  (IMP)
gene expression  (IMP)
glandular epithelial cell differentiation  (IMP)
glomerular basement membrane development  (IMP)
glycosaminoglycan biosynthetic process  (ISO)
hair cycle process  (IMP)
hair follicle morphogenesis  (IMP)
heart contraction  (IGI)
heart field specification  (IMP)
hematopoietic progenitor cell differentiation  (IMP)
hematopoietic stem cell differentiation  (IMP)
hematopoietic stem cell homeostasis  (IMP)
hematopoietic stem cell migration to bone marrow  (IMP)
heparan sulfate proteoglycan biosynthetic process  (IDA,IMP,ISO)
heparan sulfate proteoglycan biosynthetic process, chain elongation  (ISO,ISS)
heparin biosynthetic process  (IGI,IMP)
heparin metabolic process  (IMP)
hypersensitivity  (IMP)
leukocyte tethering or rolling  (IMP)
limb joint morphogenesis  (IMP)
lymphocyte adhesion to endothelial cell of high endothelial venule  (IMP)
lymphocyte migration into lymphoid organs  (IMP)
mesenchymal cell differentiation involved in bone development  (IMP)
mesenchyme development  (IMP)
mesoderm development  (IMP)
motor behavior  (IMP)
multicellular organism growth  (IMP)
multicellular organismal-level water homeostasis  (IGI)
neural crest cell differentiation  (IMP)
neuron projection development  (IMP)
olfactory bulb development  (IMP)
optic nerve development  (IMP)
ossification  (ISO)
ossification involved in bone maturation  (IMP)
perichondral bone morphogenesis  (IMP)
podocyte differentiation  (IMP)
polysaccharide biosynthetic process  (ISO)
protein catabolic process  (IMP)
protein glycosylation  (IEA)
protein-containing complex assembly  (IMP)
proteoglycan biosynthetic process  (IMP)
regulation of blood pressure  (IGI)
regulation of tumor necrosis factor-mediated signaling pathway  (IMP)
response to growth factor  (IMP)
response to heparin  (IMP)
response to leukemia inhibitory factor  (IMP)
response to light intensity  (IMP)
response to virus  (IMP)
sebaceous gland development  (IMP)
smoothened signaling pathway  (IMP)
smoothened signaling pathway involved in lung development  (IMP)
social behavior  (IMP)
sodium ion homeostasis  (IGI)
stem cell division  (IMP)
stomach development  (IMP)
sulfation  (IDA,IMP)
sweat gland development  (IMP)
synaptic transmission, glutamatergic  (IMP)
tight junction organization  (IMP)
vacuole organization  (IMP)
vasodilation  (IGI)
vocalization behavior  (IMP)
wound healing  (IMP)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal aqueous drainage system morphology  (IAGP)
abnormal axon guidance  (IAGP)
abnormal basicranium morphology  (IAGP)
abnormal brain commissure morphology  (IAGP)
abnormal brain development  (IAGP)
abnormal canal of Schlemm morphology  (IAGP)
abnormal cartilage development  (IAGP)
abnormal cartilage morphology  (IAGP)
abnormal cerebral cortex morphology  (IAGP)
abnormal cornea stroma morphology  (IAGP)
abnormal cranial synchondrosis  (IAGP)
abnormal craniofacial morphology  (IAGP)
abnormal developmental patterning  (IAGP)
abnormal ear morphology  (IAGP)
abnormal embryonic tissue morphology  (IAGP)
abnormal epiphyseal plate morphology  (IAGP)
abnormal excitatory postsynaptic currents  (IAGP)
abnormal extraembryonic tissue morphology  (IAGP)
abnormal eye morphology  (IAGP)
abnormal forelimb morphology  (IAGP)
abnormal iridocorneal angle  (IAGP)
abnormal limb morphology  (IAGP)
abnormal long bone epiphyseal plate proliferative zone  (IAGP)
abnormal miniature excitatory postsynaptic currents  (IAGP)
abnormal nest building behavior  (IAGP)
abnormal skeleton morphology  (IAGP)
abnormal social investigation  (IAGP)
abnormal synaptic transmission  (IAGP)
abnormal trabecular meshwork morphology  (IAGP)
absent anterior commissure  (IAGP)
absent cerebellum  (IAGP)
absent corpus callosum  (IAGP)
absent eyelids  (IAGP)
absent hard palate  (IAGP)
absent hippocampal commissure  (IAGP)
absent inferior colliculus  (IAGP)
absent mesoderm  (IAGP)
absent olfactory bulb  (IAGP)
bowed radius  (IAGP)
ciliary body coloboma  (IAGP)
cleft secondary palate  (IAGP)
decreased anxiety-related response  (IAGP)
decreased body height  (IAGP)
decreased cornea thickness  (IAGP)
decreased cranial neural crest cell proliferation  (IAGP)
decreased embryo size  (IAGP)
decreased eye anterior chamber depth  (IAGP)
decreased fear-related response  (IAGP)
decreased thermal nociceptive threshold  (IAGP)
decreased vocalization  (IAGP)
dislocated radius head  (IAGP)
disorganized embryonic tissue  (IAGP)
embryonic lethality  (IAGP)
embryonic lethality between implantation and somite formation, complete penetrance  (IAGP)
embryonic lethality during organogenesis, complete penetrance  (IAGP)
exostosis  (IAGP)
failure of primitive streak formation  (IAGP)
failure to gastrulate  (IAGP)
increased diameter of radius  (IAGP)
increased diameter of ulna  (IAGP)
increased locomotor activity  (IAGP)
increased osteochondroma incidence  (IAGP)
increased stereotypic behavior  (IAGP)
iris coloboma  (IAGP)
neonatal lethality, complete penetrance  (IAGP)
no abnormal phenotype detected  (IEA)
ocular hypertension  (IAGP)
premature death  (IEA)
prenatal lethality, complete penetrance  (IAGP)
prenatal lethality, incomplete penetrance  (IAGP)
preweaning lethality, complete penetrance  (IAGP)
reduced AMPA-mediated synaptic currents  (IAGP)
scoliosis  (IAGP)
thin cerebral cortex  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses. Cao L, etal., Oncol Rep. 2014 Feb;31(2):713-8. doi: 10.3892/or.2013.2891. Epub 2013 Dec 2.
2. Decreased EXT expression and intracellular accumulation of heparan sulphate proteoglycan in osteochondromas and peripheral chondrosarcomas. Hameetman L, etal., J Pathol. 2007 Mar;211(4):399-409.
3. Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. Hecht JT, etal., Am J Hum Genet. 1997 Jan;60(1):80-6.
4. [Novel mutation of Y271H in EXT1 gene causes multiple exostoses]. Li W, etal., Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2007 Aug;32(4):546-50.
5. Identification of a novel EXT1 mutation in patients with hereditary multiple exostosis by exome sequencing. Liu H, etal., Oncol Rep. 2015 Feb;33(2):547-52. doi: 10.3892/or.2014.3610. Epub 2014 Nov 21.
6. MGDs mouse GO annotations MGD data from the GO Consortium
7. MGD IEA MGD IEA
8. Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73.
9. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
10. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
11. Mouse MP Annotation Import Pipeline RGD automated import pipeline
12. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene. Sfar S, etal., Mol Biol Rep. 2009 Apr;36(4):661-7. doi: 10.1007/s11033-008-9226-3. Epub 2008 Mar 11.
15. Expression of Ext1, Ext2, and heparanase genes in brain of senescence-accelerated OXYS rats in early ontogenesis and during development of neurodegenerative changes. Shevelev OB, etal., Biochemistry (Mosc). 2012 Jan;77(1):56-61. doi: 10.1134/S0006297912010063.
16. Mutation screening of the EXT genes in patients with hereditary multiple exostoses in Taiwan. Shi YR, etal., Genet Test. 2002 Fall;6(3):237-43.
17. Deletion of exon 8 from the EXT1 gene causes multiple osteochondromas (MO) in a family with three affected members. Zhuang L, etal., Springerplus. 2016 Jan 22;5:71. doi: 10.1186/s40064-016-1695-6. eCollection 2016.
Additional References at PubMed
PMID:1856833   PMID:7726168   PMID:8889548   PMID:9186511   PMID:9254013   PMID:9620772   PMID:9703997   PMID:10349636   PMID:10639137   PMID:10864928   PMID:10878610   PMID:10922068  
PMID:10926768   PMID:11042159   PMID:11076861   PMID:11217851   PMID:11431694   PMID:11849148   PMID:12477932   PMID:12520002   PMID:12644256   PMID:12676797   PMID:14605369   PMID:14610273  
PMID:14681479   PMID:15161920   PMID:15177029   PMID:15489334   PMID:15777636   PMID:16141072   PMID:16141073   PMID:17130131   PMID:17442818   PMID:17761672   PMID:18064305   PMID:18337501  
PMID:18479348   PMID:18480751   PMID:18667431   PMID:19287388   PMID:19509472   PMID:19782070   PMID:19850926   PMID:19965677   PMID:20022960   PMID:20080592   PMID:20133829   PMID:20377530  
PMID:20404326   PMID:20463653   PMID:20534475   PMID:20974861   PMID:21093315   PMID:21148566   PMID:21185280   PMID:21267068   PMID:21310272   PMID:21586278   PMID:21743013   PMID:21873635  
PMID:21880786   PMID:22345168   PMID:22411800   PMID:22556407   PMID:22848466   PMID:23054193   PMID:23192691   PMID:23458899   PMID:23733868   PMID:23744737   PMID:23958822   PMID:24835176  
PMID:25053416   PMID:25202142   PMID:25284049   PMID:25468659   PMID:25568062   PMID:25644707   PMID:25741008   PMID:25976459   PMID:26024086   PMID:26273529   PMID:26295701   PMID:26491162  
PMID:27030596   PMID:28445472   PMID:28768899   PMID:28859094   PMID:29415886   PMID:29545125   PMID:29605295   PMID:29700203   PMID:30377379   PMID:30418981   PMID:30550785   PMID:30617207  
PMID:30977233   PMID:31365577   PMID:32201365   PMID:32325033   PMID:32810562   PMID:32818603   PMID:32882513   PMID:33028660   PMID:33278339   PMID:33600795   PMID:33717158   PMID:34310946  
PMID:34321999   PMID:34906902   PMID:34996123   PMID:36439118   PMID:39062860  


Genomics

Comparative Map Data
Ext1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391552,931,657 - 53,209,579 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1552,927,434 - 53,209,555 (-)EnsemblGRCm39 Ensembl
GRCm381553,068,261 - 53,346,183 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1553,064,038 - 53,346,159 (-)EnsemblGRCm38mm10GRCm38
MGSCv371552,899,816 - 53,177,738 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361552,898,622 - 53,176,027 (-)NCBIMGSCv36mm8
Celera1554,621,498 - 54,903,011 (-)NCBICelera
Cytogenetic Map15CNCBI
cM Map1520.0NCBI
EXT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388117,794,490 - 118,111,826 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8117,794,490 - 118,111,826 (-)EnsemblGRCh38hg38GRCh38
GRCh378118,806,729 - 119,124,065 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368118,880,783 - 119,193,239 (-)NCBINCBI36Build 36hg18NCBI36
Build 348118,880,786 - 119,193,239NCBI
Celera8115,000,160 - 115,312,582 (-)NCBICelera
Cytogenetic Map8q24.11NCBI
HuRef8114,138,448 - 114,450,830 (-)NCBIHuRef
CHM1_18118,852,044 - 119,165,143 (-)NCBICHM1_1
T2T-CHM13v2.08118,922,893 - 119,240,285 (-)NCBIT2T-CHM13v2.0
Ext1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8786,265,651 - 86,544,488 (-)NCBIGRCr8
mRatBN7.2784,375,769 - 84,654,625 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl784,375,784 - 84,655,357 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx786,286,761 - 86,565,626 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0788,487,951 - 88,766,801 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0788,293,436 - 88,572,286 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0792,605,008 - 92,881,392 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl792,605,728 - 92,882,068 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0793,245,551 - 93,521,935 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4789,392,837 - 89,671,523 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera781,215,848 - 81,493,311 (-)NCBICelera
Cytogenetic Map7q31NCBI
Ext1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541723,798,393 - 24,067,100 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541723,798,044 - 24,067,759 (-)NCBIChiLan1.0ChiLan1.0
EXT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27135,221,067 - 135,535,535 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18110,736,618 - 111,051,056 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08114,489,325 - 114,803,763 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18117,011,571 - 117,325,464 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8117,011,919 - 117,324,851 (-)Ensemblpanpan1.1panPan2
EXT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11317,172,497 - 17,457,084 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1317,172,705 - 17,456,469 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1317,173,248 - 17,457,626 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01317,470,129 - 17,750,747 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1317,470,144 - 17,750,070 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11317,205,173 - 17,489,568 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01317,305,318 - 17,589,066 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01317,549,676 - 17,834,137 (-)NCBIUU_Cfam_GSD_1.0
Ext1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530320,877,114 - 21,140,365 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647028,303,828 - 28,566,118 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647028,303,213 - 28,566,470 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EXT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl420,645,610 - 20,935,540 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1420,645,002 - 20,935,769 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2421,837,627 - 22,128,132 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EXT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18112,435,733 - 112,751,301 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603927,547,084 - 27,862,637 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ext1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476316,126,938 - 16,392,804 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476316,126,582 - 16,393,476 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Ext1
9588 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2686
Count of miRNA genes:880
Interacting mature miRNAs:1240
Transcripts:ENSMUST00000077273, ENSMUST00000110244, ENSMUST00000133362, ENSMUST00000140798
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1301779Dpml_mdopamine loss (mouse)Not determined155100469476794493Mouse
27226777Tibl8_mtibia length 8, 5 week (mouse)15692948184584201Mouse
27226773Tibl16_mtibia length 16, 10 week (mouse)15692948175871849Mouse
1301406Egrd2_mearly growth rate (mouse)Not determined152631178060311880Mouse
1357703Vtbt17_mvertebral trabecular bone trait 17 (mouse)Not determined154455331378553437Mouse
4142252Tailaq4_mtail length adjusted QTL 4 (mouse)Not determined348969478601286Mouse
27226759Feml17_mfemur length 17, 10 week (mouse)15762948155263396Mouse
27095940Ulnl8_mulna length 8, 10 week (mouse)15722948155263396Mouse
27226755Feml22_mfemur length 22, 16 week (mouse)15762948159271849Mouse
1301006Hfib1_mhepatic fibrogenesis 1 (mouse)Not determined154730633481306479Mouse
10755515Amzn3_manatomical modifier of Zfp423 3 (mouse)154638964680389845Mouse
1301557Bbaa22_mB.burgdorferi-associated arthritis 22 (mouse)Not determined152446257258462805Mouse
1301429Pcir3_mperiosteal circumference 3 (mouse)Not determined154846536282465496Mouse
26884412Bzwq10_mbi-zygomatic width QTL 10, 10 week (mouse)15612948171471849Mouse
1357756Alaa4_malopecia areata 4 (mouse)Not determined154638964680389845Mouse
26884402Cvht9_mcranial vault height 9, 16 week (mouse)154216339695497881Mouse
1301433Rapop5_mradiation-induced apoptosis 5 (mouse)Not determined15927302279474762Mouse
27226800Scvln20_msacral vertebrae length 2, 16 week (mouse)152660008666371849Mouse
26884392Humsd8_mhumerus midshaft diameter 8, 16 week (mouse)152930014676084200Mouse
26884399Humsd1_mhumerus midshaft diameter 1, 5 week (mouse)1548363396101708435Mouse
4141192Ssrq2_mstress response QTL 2 (mouse)Not determined927302256186850Mouse
1300772Bglq16_mbody growth late QTL 16 (mouse)Not determined152631178060311880Mouse
26884397Humsd5_mhumerus midshaft diameter 5, 10 week (mouse)154836339698397881Mouse
26884387Skwq8_mskull length QTL 8, 10 week (mouse)15612948168271849Mouse
10412067Pain2_mpain 2 (mouse)Not determined155164533985645626Mouse
27226786Feml11_mfemur length 11, 5 week (mouse)15612948175871849Mouse
4141952W3q7_mweight 3 weeks QTL 7 (mouse)Not determined348969478601286Mouse
26884442Sklq6_mskull length QTL 6, 5 week (mouse)156129481100797881Mouse
35673313Ari8_mantibody response to influenza 8, day 15-45, TotalG (mouse)155146339654863396Mouse
1357526Hyplip2_mhyperlipidemia 2 (mouse)Not determined1512402203102896555Mouse
27226717Tibw4_mtibia width 4, proximal, 10 week (mouse)15612948178684200Mouse
4142459Lfnq3_mlung function QTL 3 (mouse)Not determined4017702272372580Mouse
1300949Lore5_mloss of righting induced by ethanol 5 (mouse)Not determined154001944158022297Mouse
1357661Eae2b_msusceptibility to experimental allergic encephalomyelitis 2b (mouse)Not determined155100469464944308Mouse
4142198Hbtq_mhabituation QTL (mouse)Not determined155116070885160833Mouse
1357659Epfpq4_mepididymal fat percentage QTL 4 (mouse)Not determined15348969478601286Mouse
4142448Tailq6_mtail length QTL 6 (mouse)Not determined348969478601286Mouse
1301568Tria2_mT-cell receptor induced activation 2 (mouse)Not determined154485914178859281Mouse
1302080Szs13_mseizure susceptibility 13 (mouse)Not determined155168583285694449Mouse
26884425Cvht2_mcranial vault height 2, 5 week (mouse)1528800146102008435Mouse
1301450Bpq6_mblood pressure QTL 6 (mouse)Not determined152828264662282739Mouse
14928313Manh78_mmandible shape 78 (mouse)152148464155484641Mouse
26884417Bzwq4_mbi-zygomatic width QTL 4, 5 week (mouse)15612948172471849Mouse
1357512Bsbob5_mBSB obesity 5 (mouse)Not determined152828264662282739Mouse
10045637Heal27_mwound healing/regeneration 29 (mouse)Not determined155141836185418511Mouse
12859289Criq3_mCitrobacter rodentium infection QTL 3 (mouse)152259376556593765Mouse
4141409Radsvq1_mradiation sensitivity QTL 1 (mouse)Not determined2548497859484978Mouse
1558985Eae32_mexperimental allergic encephalomyelitis susceptibility 32 (mouse)Not determined1532578416103425899Mouse
1357514Mbis3_mMycobacterium bovis-induced systemic lupus erythematosus 3 (mouse)Not determined162631178060311880Mouse
26884420Cvht6_mcranial vault height 6, 10 week (mouse)154556339669171849Mouse
1301708Cocrb14_mcocaine related behavior 14 (mouse)Not determined155180651585806651Mouse
1301580Hrq2_mheart rate quantitative locus 2 (mouse)Not determined153910039573100593Mouse
1301324Cdif_mcolor difference (mouse)Not determined153597590669976019Mouse
27095932Ulnl11_mulna length 11, 16 week (mouse)15612948176384200Mouse
1357559Scfq2_msubcutaneous fat pad weight QTL 2 (mouse)Not determined15348969478601286Mouse
25394541Skmw81_mskeletal muscle weight 81, EDL (mouse)155065907253149074Mouse
4142160Femwf10_mfemur work to failure 10 (mouse)Not determined2289301456893160Mouse
10401902Sicd2_mseizure-induced cell death 2 (mouse)Not determined15347438971197538Mouse
1300578Cd8ts3_mCD8 T cell subset 3 (mouse)Not determined153400469468004804Mouse
27226734Tibmd5_mtibia midshaft diameter 5, 10 week (mouse)15612948186684201Mouse
1301345Bgeq14_mbody growth early QTL 14 (mouse)Not determined152631178060311880Mouse
1300967Bdt6_mbone density traits 6 (mouse)Not determined152529580659295928Mouse
27226729Tibmd2_mtibia midshaft diameter 2, 5 week (mouse)153800024486684201Mouse
1301860Gct3_mgranulosa cell tumorigenesis 3 (mouse)Not determined154740959681409691Mouse
27226721Tibw8_mtibia width 8, proximal, 16 week (mouse)15692948175871849Mouse
26884452Sklq17_mskull length QTL 17, 16 week (mouse)153020014657963396Mouse

Markers in Region
D15Mit232  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381553,112,510 - 53,112,623UniSTSGRCm38
MGSCv371552,944,065 - 52,944,178UniSTSGRCm37
Celera1554,665,651 - 54,665,764UniSTS
Cytogenetic Map15CUniSTS
cM Map1529.7UniSTS
Whitehead Genetic1524.0UniSTS
Whitehead_YAC15 UniSTS
D15Mit25  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381553,259,225 - 53,259,358UniSTSGRCm38
MGSCv371553,090,780 - 53,090,913UniSTSGRCm37
Celera1554,812,073 - 54,812,206UniSTS
Cytogenetic Map15CUniSTS
cM Map1522.2UniSTS
Whitehead Genetic1521.9UniSTS
Whitehead/MRC_RH15477.99UniSTS
Whitehead_YAC15 UniSTS
RH124390  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381553,341,891 - 53,342,192UniSTSGRCm38
MGSCv371553,173,446 - 53,173,747UniSTSGRCm37
Celera1554,898,669 - 54,898,970UniSTS
Cytogenetic Map15CUniSTS
cM Map1526.55UniSTS
RH124561  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381553,308,691 - 53,308,970UniSTSGRCm38
MGSCv371553,140,246 - 53,140,525UniSTSGRCm37
Celera1554,860,296 - 54,860,575UniSTS
Cytogenetic Map15CUniSTS
cM Map1526.55UniSTS
RH124810  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381553,068,586 - 53,068,674UniSTSGRCm38
MGSCv371552,900,141 - 52,900,229UniSTSGRCm37
Celera1554,621,823 - 54,621,911UniSTS
Cytogenetic Map15CUniSTS
cM Map1526.55UniSTS
RH138727  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381553,068,391 - 53,068,571UniSTSGRCm38
MGSCv371552,899,946 - 52,900,126UniSTSGRCm37
Celera1554,621,628 - 54,621,808UniSTS
Cytogenetic Map15CUniSTS
cM Map1526.55UniSTS
REN13326  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381553,345,948 - 53,346,175UniSTSGRCm38
MGSCv371553,177,503 - 53,177,730UniSTSGRCm37
Celera1554,902,776 - 54,903,003UniSTS
Cytogenetic Map15CUniSTS
cM Map1526.55UniSTS
REN13329  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381553,345,297 - 53,345,551UniSTSGRCm38
MGSCv371553,176,852 - 53,177,106UniSTSGRCm37
Celera1554,902,125 - 54,902,379UniSTS
Cytogenetic Map15CUniSTS
cM Map1526.55UniSTS
REN13332  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381553,344,585 - 53,344,846UniSTSGRCm38
MGSCv371553,176,140 - 53,176,401UniSTSGRCm37
Celera1554,901,413 - 54,901,674UniSTS
Cytogenetic Map15CUniSTS
cM Map1526.55UniSTS
REN13331  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381553,344,848 - 53,345,094UniSTSGRCm38
MGSCv371553,176,403 - 53,176,649UniSTSGRCm37
Celera1554,901,676 - 54,901,922UniSTS
Cytogenetic Map15CUniSTS
cM Map1526.55UniSTS
ECD12225  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381553,344,819 - 53,345,368UniSTSGRCm38
MGSCv371553,176,374 - 53,176,923UniSTSGRCm37
Celera1554,901,647 - 54,902,196UniSTS
Cytogenetic Map15CUniSTS
cM Map1526.55UniSTS
ECD12830  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381553,345,407 - 53,345,935UniSTSGRCm38
MGSCv371553,176,962 - 53,177,490UniSTSGRCm37
Celera1554,902,235 - 54,902,763UniSTS
Cytogenetic Map15CUniSTS
cM Map1526.55UniSTS
RH125649  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381553,308,785 - 53,309,034UniSTSGRCm38
MGSCv371553,140,340 - 53,140,589UniSTSGRCm37
Celera1554,860,390 - 54,860,639UniSTS
Cytogenetic Map15CUniSTS
cM Map1530.0UniSTS
Whitehead/MRC_RH15477.89UniSTS
Ext1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381553,068,547 - 53,068,688UniSTSGRCm38
MGSCv371552,900,102 - 52,900,243UniSTSGRCm37
Celera1554,621,784 - 54,621,925UniSTS
Cytogenetic Map15CUniSTS
cM Map1526.55UniSTS


Expression

RNA-SEQ Expression


Sequence


Ensembl Acc Id: ENSMUST00000077273   ⟹   ENSMUSP00000076505
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1552,927,434 - 53,209,555 (-)Ensembl
GRCm38.p6 Ensembl1553,064,038 - 53,346,159 (-)Ensembl
Ensembl Acc Id: ENSMUST00000110244
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1552,946,542 - 53,059,651 (-)Ensembl
GRCm38.p6 Ensembl1553,083,146 - 53,196,255 (-)Ensembl
Ensembl Acc Id: ENSMUST00000133362   ⟹   ENSMUSP00000117921
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1552,932,060 - 53,209,055 (-)Ensembl
GRCm38.p6 Ensembl1553,068,664 - 53,345,659 (-)Ensembl
Ensembl Acc Id: ENSMUST00000140798
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1552,953,327 - 52,971,264 (-)Ensembl
GRCm38.p6 Ensembl1553,089,931 - 53,107,868 (-)Ensembl
RefSeq Acc Id: NM_010162   ⟹   NP_034292
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391552,931,657 - 53,209,579 (-)NCBI
GRCm381553,068,261 - 53,346,183 (-)ENTREZGENE
MGSCv371552,899,816 - 53,177,738 (-)RGD
Celera1554,621,498 - 54,903,011 (-)RGD
cM Map15 ENTREZGENE
Sequence:
RefSeq Acc Id: NP_034292   ⟸   NM_010162
- UniProtKB: Q61546 (UniProtKB/Swiss-Prot),   P97464 (UniProtKB/Swiss-Prot),   Q3V1P4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSMUSP00000117921   ⟸   ENSMUST00000133362
Ensembl Acc Id: ENSMUSP00000076505   ⟸   ENSMUST00000077273
Protein Domains
Exostosin GT47   Glycosyl transferase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P97464-F1-model_v2 AlphaFold P97464 1-746 view protein structure

Promoters
RGD ID:6825991
Promoter ID:MM_KWN:18429
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:BoneMarrow_4Hour,   MEF_B6
Transcripts:OTTMUST00000046536
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361552,939,191 - 52,939,822 (-)MPROMDB
RGD ID:6825990
Promoter ID:MM_KWN:18430
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:BoneMarrow_4Hour,   Liver
Transcripts:ENSMUST00000110244
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361553,027,701 - 53,028,201 (-)MPROMDB
RGD ID:6825989
Promoter ID:MM_KWN:18431
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day0,   3T3L1_Day1,   3T3L1_Day2,   3T3L1_Day3,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   ES_Cell,   Liver,   Lung,   MEF_B4,   MEF_B6
Transcripts:ENSMUST00000077273,   OTTMUST00000056056
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361553,175,971 - 53,178,172 (-)MPROMDB
RGD ID:8683728
Promoter ID:EPDNEW_M19894
Type:initiation region
Name:Ext1_1
Description:Mus musculus exostoses 1 , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm381553,346,132 - 53,346,192EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:894663 AgrOrtholog
Ensembl Genes ENSMUSG00000061731 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000077273 ENTREZGENE
  ENSMUST00000077273.9 UniProtKB/Swiss-Prot
  ENSMUST00000133362.8 UniProtKB/TrEMBL
InterPro Exostosin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Exostosin_GT47 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GT64 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:14042 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGD MGI:894663 ENTREZGENE
NCBI Gene 14042 ENTREZGENE
PANTHER ACETYLGLUCOSAMINYLTRANSFERASE UniProtKB/Swiss-Prot
  ACETYLGLUCOSAMINYLTRANSFERASE UniProtKB/Swiss-Prot
  ACETYLGLUCOSAMINYLTRANSFERASE UniProtKB/TrEMBL
  ACETYLGLUCOSAMINYLTRANSFERASE UniProtKB/TrEMBL
Pfam Exostosin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_transf_64 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Ext1 PhenoGen
Superfamily-SCOP SSF53448 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D6RE56_MOUSE UniProtKB/TrEMBL
  EXT1_MOUSE UniProtKB/Swiss-Prot, ENTREZGENE
  Q3V1P4 ENTREZGENE, UniProtKB/TrEMBL
  Q61546 ENTREZGENE
UniProt Secondary Q61546 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-09-03 Ext1  exostosin glycosyltransferase 1  Ext1  exostoses (multiple) 1  Symbol and/or name change 5135510 APPROVED