Type | Description |
---|---|
Definition | adaptor related protein complex 3 subunit beta 1 |
Date | Results | Publications |
---|---|---|
2020-07-11 11:51:00 | data show that defects in adaptor protein complex 3-dependent maturation of Weibel-Palade bodies impairs exocytosis by affecting the recruitment of VAMP8. | 30630984 |
2018-05-12 11:58:00 | point mutation c.2702C>G in exon 23 of the AP3B1 gene caused deletion of 112 bp in the mRNA in two siblings. This mutation activates a cryptic donor splice site that overrules the wild-type donor splice site of this exon. Three other novel mutations in AP3B1 were identified, that is, a nonsense mutation c.716G>A (p.Trp239Ter), a 1-bp and a 4-bp deletion c.177delA and c.1839_1842delTAGA, respectively | 28585318 |
2016-08-06 10:21:00 | Synergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis. | 25980904 |
2015-02-14 12:38:00 | Using a co-affinity purification strategy, authors have identified the beta subunit of the AP-3 adapter protein complex, AP3B1, as a binding partner for the M proteins of the zoonotic paramyxoviruses Nipah virus and Hendra virus. | 25210190 |
2014-08-30 11:53:00 | Data indicate that RUN and FYVE domain protein Rabip4'(RUFY1) interacts specifically and directly with adaptor protein complex AP-3. | 23144738 |
Type | IDs |
---|---|
Synonymous | ADTB3, ADTB3A, HPS, HPS2, PE |
Gene |
UniProtKB-ID:
AP3B1_HUMAN,
A0A0S2Z5J4_HUMAN
UniprotKB:
O00203,
A0A0S2Z5J4
UniParc:
UPI0000E0969C,
UPI00001AE77D
EMBL:
AC112197,
KU178426,
BX538041,
U81504,
AC024578,
AF247736,
U91931,
AC104108,
AC024568,
BC038444
Ensembl:
ENSG00000132842
KO:
hsa:8546
|
Nucleutide sequences |
EMBL-CDS:
CAD97982.1,
AAB61638.1,
AAD03778.1,
AAG01739.1,
AAH38444.1,
ALQ33884.1
Ensembl_TRS:
ENST00000519295,
ENST00000255194
|
Protein sequencees |
Ensembl_PRO:
ENSP00000255194,
ENSP00000430597
RefSeq:
XP_005248676.1,
NP_003655.3,
XP_005248675.1,
XP_016865490.1,
NP_001258698.1
|
Others |
UniRef100:
UniRef100_O00203
UniRef90:
UniRef90_O00203
UniRef50:
UniRef50_Q9Z1T1
UniGene:
Hs.532091
CCDS:
CCDS64186.1,
CCDS4041.1
|
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Refseq |
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