EuRBPDB

Description

RBPome

Expression

Transcripts

Gene Model

Pathways

Phenotypes

GWAS

PPI

Gene Ontology

Description

Ensembl ID: ENSG00000132842 (Gene tree)
Gene ID: 8546
Gene Symbol: AP3B1
Alias: ADTB3A|HPS2
Full Name: adaptor related protein complex 3 subunit beta 1
Gene Type: protein_coding
Species: Homo_sapiens
Status: putative
Strand: Minus strand
Length: 294,231 bases
Position: chr5:78,000,525-78,294,755
Accession: 566
RBP type: non-canonical RBP
Summary: This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]

RNA binding proteome (RBPome)

PID	Title	Method	Time	Author	Doi
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & HEK293	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2
30528433	The Human RNA-Binding Proteome and Its Dynamics during Translational Arrest	XRNAX & HEK293	2018 Dec 6	Trendel J	DOI: 10.1016/j.cell.2018.11.004
30528433	The Human RNA-Binding Proteome and Its Dynamics during Translational Arrest	XRNAX & Hela	2018 Dec 6	Trendel J	DOI: 10.1016/j.cell.2018.11.004
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & MCF10A	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000519888	AP3B1-205	519	-	-	- (aa)	-	-
ENST00000522901	AP3B1-207	1170	-	ENSP00000429228	154 (aa)	-	H0YBD0
ENST00000255194	AP3B1-201	5838	XM_005248618	ENSP00000255194	1094 (aa)	XP_005248675	O00203
ENST00000523204	AP3B1-208	776	-	-	- (aa)	-	-
ENST00000517561	AP3B1-202	498	-	-	- (aa)	-	-
ENST00000517940	AP3B1-203	974	-	-	- (aa)	-	-
ENST00000520122	AP3B1-206	525	-	-	- (aa)	-	-
ENST00000519295	AP3B1-204	3986	XM_017010001	ENSP00000430597	1045 (aa)	XP_016865490	O00203

Gene Model

Click here to download ENSG00000132842's gene model file

Pathways

Pathway ID	Pathway Name	Source
hsa04142	Lysosome	KEGG

Phenotypes

ensgID	Trait	pValue	Pubmed ID
ENSG00000132842	Carotid Artery Diseases	6.86796784173811E-6	17903303
ENSG00000132842	Asthma	1E-6	25918132
ENSG00000132842	Toluene 2,4-Diisocyanate	1E-6	25918132

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000132842	rs73132886	5	78052816	C	Diisocyanate-induced asthma	25918132	[3.52-329.69]	34.08	EFO_0006995\|EFO_0000270
ENSG00000132842	rs72776472	5	78199207	?	Lung function (FVC)	30595370			EFO_0004312
ENSG00000132842	rs252749	5	78094149	?	Body mass index	30595370			EFO_0004340
ENSG00000132842	rs252746	5	78096293	A	Lung function (FEV1)	30061609	[13.29-26.81] ml increase	20.05	EFO_0004314
ENSG00000132842	rs12513481	5	78155004	?	Lung function (FEV1)	30061609	[12.44-25.3] unit decrease	18.87	EFO_0004314
ENSG00000132842	rs72776440	5	78144372	?	Lung function (FEV1)	30061609	[8.92-19.9] unit decrease	14.41	EFO_0004314
ENSG00000132842	rs12513481	5	78155004	C	Lung function (FVC)	30061609	[17.68-32.34] ml decrease	25.01	EFO_0004312
ENSG00000132842	rs252746	5	78096293	?	Lung function (FVC)	30061609	[17.67-33.07] unit increase	25.37	EFO_0004312
ENSG00000132842	rs72776440	5	78144372	C	Lung function (FVC)	30061609	[15.01-27.59] ml decrease	21.3	EFO_0004312
ENSG00000132842	rs72776440	5	78144372	C	Lung function (FVC)	30061609	[17.62-32.32] unit decrease	24.97	EFO_0004312
ENSG00000132842	rs10065892	5	78267439	?	Red cell distribution width	30595370			EFO_0005192
ENSG00000132842	rs72776445	5	78150901	?	Waist-hip ratio	30595370			EFO_0004343
ENSG00000132842	rs77853392	5	78223235	?	DNA methylation variation (age effect)	30348214			GO_0006306
ENSG00000132842	rs425102	5	78100576	T	Lung function (FVC)	30804560	[0.015-0.026] unit increase	0.0209	EFO_0004312
ENSG00000132842	rs425102	5	78100576	T	FEV1	30804560	[0.011-0.021] unit increase	0.0159	EFO_0004314
ENSG00000132842	rs12513481	5	78155004	?	Fat-free mass	30593698	[0.14-0.3] unit decrease	0.22484	EFO_0004995
ENSG00000132842	rs35611929	5	78172000	A	Knee osteoarthritis	30664745	[1.04-1.08]	1.06	EFO_0004616
ENSG00000132842	rs12513481	5	78155004	?	Fat-free mass	30593698	[0.13-0.23] unit decrease	0.17664	EFO_0004995

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000132842's network

* RBP PPI network refers to all genes directly bind to RBP

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0005765	lysosomal membrane	17897319.	HDA	Component
GO:0005794	Golgi apparatus	-	IEA	Component
GO:0006622	protein targeting to lysosome	-	IEA	Process
GO:0006886	intracellular protein transport	9931340.	TAS	Process
GO:0007596	blood coagulation	-	IEA	Process
GO:0008089	anterograde axonal transport	-	ISS	Process
GO:0016020	membrane	19946888.	HDA	Component
GO:0016182	synaptic vesicle budding from endosome	-	IEA	Process
GO:0019903	protein phosphatase binding	17622474.	IPI	Function
GO:0030123	AP-3 adaptor complex	-	IEA	Component
GO:0030131	clathrin adaptor complex	-	IEA	Component
GO:0030665	clathrin-coated vesicle membrane	-	IEA	Component
GO:0030742	GTP-dependent protein binding	22511774.	IPI	Function
GO:0032438	melanosome organization	11452004.19841138.	IMP	Process
GO:0048007	antigen processing and presentation, exogenous lipid antigen via MHC class Ib	-	IEA	Process
GO:0048490	anterograde synaptic vesicle transport	-	ISS	Process
GO:0051138	positive regulation of NK T cell differentiation	-	IEA	Process
GO:0098794	postsynapse	-	IEA	Component
GO:1904115	axon cytoplasm	-	IEA	Component