Type | Description |
---|---|
Definition | unc-50 inner nuclear membrane RNA binding protein |
Date | Results | Publications |
---|---|---|
2018-03-10 11:49:00 | Data indicate that biallelic mutation in the UNC50 gene underlies AMC through a probable loss of AChR expression at the neuromuscular junction which is essential for the cholinergic transmission during human muscle development. | 29016857 |
2017-10-07 10:08:00 | depletion of UNC50 blocked early endosome-to-Golgi trafficking and induced lysosomal degradation of STx2. UNC50 acted by recruiting GBF1, an ADP ribosylation factor-guanine nucleotide exchange factor (ARF-GEF), to the Golgi. | 28883040 |
2016-01-23 10:30:00 | UNC50 may plays some roles in HCC progression by affecting the EGFR pathway | 25738771 |
2010-01-21 00:00:00 | UNCL plays important roles in the development, differentiation, and maintenance of periodontal tissues and in the mechanotransduction of periodontal ligament fibroblasts. | 17004066 |
Type | IDs |
---|---|
Synonymous | GMH1, HSD23, PDLs22, UNCL, URP |
Gene |
UniProtKB-ID:
UNC50_HUMAN,
A0A0S2Z612_HUMAN,
J3KQ47_HUMAN
UniprotKB:
Q53HI1,
A0A0S2Z612,
J3KQ47
UniParc:
UPI0000031564,
UPI000015DD63
EMBL:
AC064860,
BC091481,
AY017215,
KU178586,
AK222599,
CH471127,
AL080115,
AY251534,
AC010134,
BC025992,
BC017019,
CR533464,
AF077038,
BC039078
Ensembl:
ENSG00000115446
KO:
hsa:25972
|
Nucleutide sequences |
EMBL-CDS:
EAX01900.1,
AAH25992.1,
AAD27771.1,
EAX01902.1,
AAH39078.1,
AAH17019.1,
AAK08987.1,
AAP20057.1,
AAX93232.1,
AAY14975.1,
AAH91481.1,
EAX01901.1,
CAG38495.1,
BAD96319.1,
CAB45714.1,
ALQ34044.1
Gene_ORFName:
HSD23,
HSD-23
Ensembl_TRS:
ENST00000357765,
ENST00000409347,
ENST00000409975
|
Protein sequencees |
Ensembl_PRO:
ENSP00000350409,
ENSP00000387146,
ENSP00000386466
RefSeq:
NP_001317283.1,
NP_054763.2,
NP_001317282.1,
XP_006712466.1
|
Others |
UniRef100:
UniRef100_Q53HI1,
UniRef100_J3KQ47
UniRef90:
UniRef90_Q53HI1,
UniRef90_Q9CQ61
UniRef50:
UniRef50_Q53HI1
UniGene:
Hs.13370
CCDS:
CCDS2035.1
|
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