| Type | Description |
|---|---|
| Definition | exostosin like glycosyltransferase 3 |
| Date | Results | Publications |
|---|---|---|
| 2020-11-21 13:23:00 | EXTL3-interacting endometriosis-specific serum factors induce colony formation of endometrial stromal cells. | 31467315 |
| 2019-03-09 11:22:00 | EXTL3 mutations are associated with spondylo-epi-metaphyseal dysplasia with immunodeficiency. | 28446799 |
| 2018-05-26 10:17:00 | Human lumenal N-glycosylated EXTL3 (EXTL3DeltaN) was cloned, expressed in human embryonic kidney cells, and purified. Various biophysical and biochemical approaches were then employed to elucidate the N-glycosylation sites and the function of their attached N-glycans. | 29346724 |
| 2018-05-19 11:16:00 | EXTL3 missense mutation is associated with spondylo-epi-metaphyseal dysplasia. | 28331220 |
| 2017-08-19 10:52:00 | EXTL3 mutations as a novel cause of severe immune deficiency with skeletal dysplasia and developmental delay and underline a crucial role of HS in thymopoiesis and skeletal and brain development. | 28148688 |
| Type | IDs |
|---|---|
| Synonymous | BOTV, EXTL1L, EXTR1, ISDNA, REGR, RPR |
| Gene |
UniProtKB-ID:
EXTL3_HUMAN,
A0A384NPY9_HUMAN
UniprotKB:
O43909,
A0A384NPY9
UniParc:
UPI000012A35D
EMBL:
BT007353,
CH471080,
AF029231,
AB011091,
AF001690,
GQ900931,
AB007042,
AF083551,
U96629,
U76188,
BC006363
Ensembl:
ENSG00000012232
KO:
hsa:2137
|
| Nucleutide sequences |
EMBL-CDS:
AAB93670.1,
AAB67602.1,
AAC39598.1,
BAA25445.2,
EAW63507.1,
EAW63509.1,
AAD42041.1,
BAA24080.1,
EAW63508.1,
AAH06363.1,
AAD01877.1,
AAP36017.1,
ADO22448.1
Ensembl_TRS:
ENST00000220562
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000220562
RefSeq:
XP_011542742.1,
NP_001431.1,
XP_024302863.1,
XP_024302864.1,
XP_024302862.1
|
| Others |
UniRef100:
UniRef100_O43909
UniRef90:
UniRef90_O43909
UniRef50:
UniRef50_O43909
UniGene:
Hs.491354,
Hs.744019
CCDS:
CCDS6070.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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