EuRBPDB

Description

RBPome

Expression

Transcripts

Gene Model

Pathways

Phenotypes

GWAS

PPI

Orthologs

Gene Ontology

Description

Ensembl ID: ENSG00000065000 (Gene tree)
Gene ID: 8943
Gene Symbol: AP3D1
Alias: ADTD
Full Name: adaptor related protein complex 3 subunit delta 1
Gene Type: protein_coding
Species: Homo_sapiens
Status: putative
Strand: Minus strand
Length: 63,481 bases
Position: chr19:2,100,988-2,164,468
Accession: 568
RBP type: non-canonical RBP
Summary: The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Defects in this gene are a cause of a new type of Hermansky-Pudlak syndrome. [provided by RefSeq, Feb 2017]

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
30528433	The Human RNA-Binding Proteome and Its Dynamics during Translational Arrest	XRNAX & MCF7	2018 Dec 6	Trendel J	DOI: 10.1016/j.cell.2018.11.004

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000591650	AP3D1-211	1437	-	-	- (aa)	-	-
ENST00000591284	AP3D1-209	580	-	ENSP00000493531	61 (aa)	-	A0A2R8YCY8
ENST00000591631	AP3D1-210	796	-	-	- (aa)	-	-
ENST00000345016	AP3D1-201	4870	-	ENSP00000344055	1153 (aa)	-	O14617
ENST00000585652	AP3D1-203	4433	-	-	- (aa)	-	-
ENST00000355272	AP3D1-202	5034	-	ENSP00000347416	1215 (aa)	-	O14617
ENST00000586370	AP3D1-205	1686	-	ENSP00000468449	174 (aa)	-	K7ERW8
ENST00000589223	AP3D1-206	3357	-	-	- (aa)	-	-
ENST00000589369	AP3D1-207	618	-	ENSP00000466267	193 (aa)	-	K7ELX8
ENST00000644728	AP3D1-215	4015	XM_017027422	ENSP00000494972	945 (aa)	XP_016882911	A0A2R8Y611
ENST00000586177	AP3D1-204	627	-	-	- (aa)	-	-
ENST00000643116	AP3D1-214	5065	XM_006722932	ENSP00000495274	1215 (aa)	XP_006722995	O14617
ENST00000643010	AP3D1-213	1510	-	ENSP00000494100	431 (aa)	-	A0A2R8Y4J3
ENST00000590683	AP3D1-208	723	-	ENSP00000481961	203 (aa)	-	A0A087WYN6
ENST00000592488	AP3D1-212	707	-	-	- (aa)	-	-

Gene Model

Click here to download ENSG00000065000's gene model file

Pathways

Pathway ID	Pathway Name	Source
hsa04142	Lysosome	KEGG

Phenotypes

ensgID	Trait	pValue	Pubmed ID
ENSG00000065000	C-Reactive Protein	4.35108153486104E-5	17903293
ENSG00000065000	Alanine Transaminase	5.1490000E-005	-
ENSG00000065000	Alanine Transaminase	3.1660000E-005	-
ENSG00000065000	Body Mass Index	5E-6	19851299
ENSG00000065000	Myocardial Infarction	4E-9	24916648

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000065000	rs57908212	19	2161322	C	Red blood cell count	27863252	[0.021-0.035] unit increase	0.02806394	EFO_0004305
ENSG00000065000	rs3803915	19	2160530	C	Body mass index	19851299	[NR] kg decrease	0.13	EFO_0004340
ENSG00000065000	rs3803915	19	2160530	C	Myocardial infarction	24916648	[1.09-1.16]	1.12	EFO_0000612
ENSG00000065000	rs57908212	19	2161322	C	Hematocrit	27863252	[0.024-0.038] unit increase	0.03051021	EFO_0004348
ENSG00000065000	rs57908212	19	2161322	C	Hemoglobin concentration	27863252	[0.02-0.034] unit increase	0.02720681	EFO_0004509
ENSG00000065000	rs25673	19	2109158	?	Adolescent idiopathic scoliosis	30019117			EFO_0005423
ENSG00000065000	rs75483641	19	2123929	T	Male-pattern baldness	30573740	[0.017-0.034] unit decrease	0.0256349	EFO_0007825
ENSG00000065000	rs4807203	19	2127273	?	White blood cell count	30595370			EFO_0004308
ENSG00000065000	rs57908212	19	2161322	?	Red blood cell count	30595370			EFO_0004305
ENSG00000065000	rs183203602	19	2154724	T	Systolic blood pressure	30578418	[0.71-1.42] mmHg increase	1.065	EFO_0006335
ENSG00000065000	rs188076989	19	2120460	A	Systolic blood pressure	30578418	[0.54-1.32] mmHg increase	0.927	EFO_0006335
ENSG00000065000	rs8102624	19	2161444	A	Pulse pressure	30578418	[0.33-0.48] mmHg increase	0.4062	EFO_0005763
ENSG00000065000	rs183203602	19	2154724	T	Pulse pressure	30578418	[0.77-1.29] mmHg increase	1.0299	EFO_0005763
ENSG00000065000	rs188076989	19	2120460	A	Pulse pressure	30578418	[0.63-1.18] mmHg increase	0.9033	EFO_0005763
ENSG00000065000	rs7249081	19	2157168	?	Fat-free mass	30593698	[0.16-0.29] unit increase	0.22619	EFO_0004995
ENSG00000065000	rs7249081	19	2157168	?	Fat-free mass	30593698	[0.13-0.21] unit increase	0.17007	EFO_0004995

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000065000's network

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

Orthologs identified by RBPome

Ensembl ID	Gene Symbol	Coverage	Identiy	Ortholog	Gene Symbol	Coverage	Identiy	Species
ENSG00000065000	AP3D1	100	80.093	FBgn0001087	g	81	61.222	Drosophila_melanogaster
ENSG00000065000	AP3D1	89	51.852	YPL195W	APL5	70	33.584	Saccharomyces_cerevisiae

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0000139	Golgi membrane	-	IEA	Component
GO:0005215	transporter activity	9303295.	TAS	Function
GO:0005765	lysosomal membrane	17897319.	HDA	Component
GO:0005794	Golgi apparatus	9151686.	TAS	Component
GO:0005886	plasma membrane	-	IEA	Component
GO:0006623	protein targeting to vacuole	21873635.	IBA	Process
GO:0006726	eye pigment biosynthetic process	9303295.	TAS	Process
GO:0006886	intracellular protein transport	21873635.	IBA	Process
GO:0006896	Golgi to vacuole transport	21873635.	IBA	Process
GO:0008089	anterograde axonal transport	-	ISS	Process
GO:0010008	endosome membrane	21873635.	IBA	Component
GO:0010008	endosome membrane	16162817.	IDA	Component
GO:0016020	membrane	19946888.	HDA	Component
GO:0016182	synaptic vesicle budding from endosome	21873635.	IBA	Process
GO:0030123	AP-3 adaptor complex	21873635.	IBA	Component
GO:0032438	melanosome organization	22511774.	IC	Process
GO:0035646	endosome to melanosome transport	22511774.	IMP	Process
GO:0043195	terminal bouton	21873635.	IBA	Component
GO:0048007	antigen processing and presentation, exogenous lipid antigen via MHC class Ib	-	IEA	Process
GO:0048490	anterograde synaptic vesicle transport	21873635.	IBA	Process
GO:0048490	anterograde synaptic vesicle transport	-	ISS	Process
GO:0048499	synaptic vesicle membrane organization	21873635.	IBA	Process
GO:0051138	positive regulation of NK T cell differentiation	-	IEA	Process
GO:0061088	regulation of sequestering of zinc ion	17349999.	IMP	Process
GO:0072657	protein localization to membrane	22511774.	IMP	Process
GO:0098794	postsynapse	-	IEA	Component
GO:0098830	presynaptic endosome	21873635.	IBA	Component
GO:0098943	neurotransmitter receptor transport, postsynaptic endosome to lysosome	21873635.	IBA	Process
GO:0098978	glutamatergic synapse	-	IEA	Component
GO:1904115	axon cytoplasm	-	IEA	Component