例如:"NBL1", "4681", "drought"
收藏
8546 AP3B1

8546

AP3B1

adaptor related protein complex 3 subunit beta 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition adaptor related protein complex 3 subunit beta 1

研究结论

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

名称对应

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

全选

{{proteinIndex+1}}
mRNA Protein UniprotKB Description
Refseq {{protein.nucleotideVersion}}

Ensembl: {{protein.nucleotideEnsembl}}

{{protein.proteinVersion}}

Ensembl: {{protein.proteinEnsembl}}

{{uniprot}}
Definition: {{{protein.definition}}}

Transcript Veriant:{{protein.transcriptVeriant}}

Status: {{protein.status}}

Location ( {{protein.positionStart}}..{{protein.positionEnd}} )

暂无数据

研究热度

热点单位
排名 科研单位 文献
{{affIndex+1}}

{{aff.value}}

{{aff.size}}

目前还没有研究热点单位

热点人员
排名 研究人员 文献
{{authorIndex+1}}

{{author.value}}

{{author.size}}

目前还没有研究热点人员