Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8943
Gene name	Adaptor related protein complex 3 subunit delta 1
Gene symbol	AP3D1
Synonyms (NCBI Gene)	ADTDHPS10hBLVR
Chromosome	19
Chromosome location	19p13.3
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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs879255646	CA>-	Pathogenic	Frameshift variant, coding sequence variant

293

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miRTarBase ID	miRNA	Experiments	Reference
MIRT001386	hsa-miR-1-3p	pSILAC	18668040
MIRT016660	hsa-miR-425-5p	Sequencing	20371350
MIRT017505	hsa-miR-335-5p	Microarray	18185580
MIRT001386	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT031574	hsa-miR-16-5p	Sequencing	20371350
MIRT050521	hsa-miR-20a-5p	CLASH	23622248
MIRT049814	hsa-miR-92a-3p	CLASH	23622248
MIRT042149	hsa-miR-484	CLASH	23622248
MIRT040843	hsa-miR-18a-3p	CLASH	23622248
MIRT040050	hsa-miR-615-3p	CLASH	23622248
MIRT037730	hsa-miR-744-5p	CLASH	23622248
MIRT457232	hsa-miR-4311	PAR-CLIP	23592263
MIRT457231	hsa-miR-3123	PAR-CLIP	23592263
MIRT457230	hsa-miR-2392	PAR-CLIP	23592263
MIRT457229	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT457228	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT457227	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT457226	hsa-miR-545-5p	PAR-CLIP	23592263
MIRT457225	hsa-miR-6077	PAR-CLIP	23592263
MIRT457224	hsa-miR-1193	PAR-CLIP	23592263
MIRT457223	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT457222	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT457221	hsa-miR-6801-5p	PAR-CLIP	23592263
MIRT457220	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT457219	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT457218	hsa-miR-192-3p	PAR-CLIP	23592263
MIRT457232	hsa-miR-4311	PAR-CLIP	23592263
MIRT457231	hsa-miR-3123	PAR-CLIP	23592263
MIRT457230	hsa-miR-2392	PAR-CLIP	23592263
MIRT457229	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT457228	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT457227	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT457226	hsa-miR-545-5p	PAR-CLIP	23592263
MIRT457225	hsa-miR-6077	PAR-CLIP	23592263
MIRT457224	hsa-miR-1193	PAR-CLIP	23592263
MIRT457223	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT457222	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT457221	hsa-miR-6801-5p	PAR-CLIP	23592263
MIRT457220	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT457219	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT457218	hsa-miR-192-3p	PAR-CLIP	23592263
MIRT787843	hsa-miR-4325	CLIP-seq
MIRT787844	hsa-miR-4708-5p	CLIP-seq
MIRT787845	hsa-miR-628-5p	CLIP-seq
MIRT787846	hsa-miR-106a	CLIP-seq
MIRT787847	hsa-miR-106b	CLIP-seq
MIRT787848	hsa-miR-1246	CLIP-seq
MIRT787849	hsa-miR-1254	CLIP-seq
MIRT787850	hsa-miR-1265	CLIP-seq
MIRT787851	hsa-miR-1291	CLIP-seq
MIRT787852	hsa-miR-17	CLIP-seq
MIRT787853	hsa-miR-1909	CLIP-seq
MIRT787854	hsa-miR-194	CLIP-seq
MIRT787855	hsa-miR-20a	CLIP-seq
MIRT787856	hsa-miR-20b	CLIP-seq
MIRT787857	hsa-miR-2115	CLIP-seq
MIRT787858	hsa-miR-217	CLIP-seq
MIRT787859	hsa-miR-2861	CLIP-seq
MIRT787860	hsa-miR-31	CLIP-seq
MIRT787861	hsa-miR-3116	CLIP-seq
MIRT787862	hsa-miR-3173-5p	CLIP-seq
MIRT787863	hsa-miR-34b	CLIP-seq
MIRT787864	hsa-miR-3607-3p	CLIP-seq
MIRT787865	hsa-miR-3609	CLIP-seq
MIRT787866	hsa-miR-3667-3p	CLIP-seq
MIRT787867	hsa-miR-3671	CLIP-seq
MIRT787868	hsa-miR-3686	CLIP-seq
MIRT787869	hsa-miR-3688-5p	CLIP-seq
MIRT787870	hsa-miR-3690	CLIP-seq
MIRT787871	hsa-miR-380	CLIP-seq
MIRT787872	hsa-miR-3924	CLIP-seq
MIRT787873	hsa-miR-4254	CLIP-seq
MIRT787874	hsa-miR-4297	CLIP-seq
MIRT787875	hsa-miR-4320	CLIP-seq
MIRT787876	hsa-miR-4328	CLIP-seq
MIRT787877	hsa-miR-4428	CLIP-seq
MIRT787878	hsa-miR-4495	CLIP-seq
MIRT787879	hsa-miR-4533	CLIP-seq
MIRT787880	hsa-miR-4645-3p	CLIP-seq
MIRT787881	hsa-miR-4645-5p	CLIP-seq
MIRT787882	hsa-miR-4646-5p	CLIP-seq
MIRT787883	hsa-miR-4666-3p	CLIP-seq
MIRT787884	hsa-miR-4666-5p	CLIP-seq
MIRT787885	hsa-miR-4673	CLIP-seq
MIRT787886	hsa-miR-4731-5p	CLIP-seq
MIRT787887	hsa-miR-4754	CLIP-seq
MIRT787888	hsa-miR-4762-5p	CLIP-seq
MIRT787889	hsa-miR-4778-5p	CLIP-seq
MIRT787890	hsa-miR-4796-3p	CLIP-seq
MIRT787891	hsa-miR-485-3p	CLIP-seq
MIRT787892	hsa-miR-487a	CLIP-seq
MIRT787893	hsa-miR-516a-3p	CLIP-seq
MIRT787894	hsa-miR-519d	CLIP-seq
MIRT787895	hsa-miR-542-3p	CLIP-seq
MIRT787896	hsa-miR-548ah	CLIP-seq
MIRT787897	hsa-miR-607	CLIP-seq
MIRT787898	hsa-miR-661	CLIP-seq
MIRT787899	hsa-miR-93	CLIP-seq
MIRT1932372	hsa-miR-1	CLIP-seq
MIRT787848	hsa-miR-1246	CLIP-seq
MIRT1932373	hsa-miR-146b-3p	CLIP-seq
MIRT1932374	hsa-miR-190	CLIP-seq
MIRT1932375	hsa-miR-190b	CLIP-seq
MIRT1932376	hsa-miR-206	CLIP-seq
MIRT787858	hsa-miR-217	CLIP-seq
MIRT1932377	hsa-miR-2277-3p	CLIP-seq
MIRT1932378	hsa-miR-339-5p	CLIP-seq
MIRT787863	hsa-miR-34b	CLIP-seq
MIRT787864	hsa-miR-3607-3p	CLIP-seq
MIRT787867	hsa-miR-3671	CLIP-seq
MIRT787868	hsa-miR-3686	CLIP-seq
MIRT1932379	hsa-miR-3689a-5p	CLIP-seq
MIRT1932380	hsa-miR-3689b	CLIP-seq
MIRT1932381	hsa-miR-3689e	CLIP-seq
MIRT1932382	hsa-miR-3689f	CLIP-seq
MIRT787870	hsa-miR-3690	CLIP-seq
MIRT787873	hsa-miR-4254	CLIP-seq
MIRT787875	hsa-miR-4320	CLIP-seq
MIRT787884	hsa-miR-4666-5p	CLIP-seq
MIRT1932383	hsa-miR-4681	CLIP-seq
MIRT1932384	hsa-miR-4690-3p	CLIP-seq
MIRT1932385	hsa-miR-4753-3p	CLIP-seq
MIRT787888	hsa-miR-4762-5p	CLIP-seq
MIRT787889	hsa-miR-4778-5p	CLIP-seq
MIRT1932386	hsa-miR-503	CLIP-seq
MIRT1932387	hsa-miR-548p	CLIP-seq
MIRT1932388	hsa-miR-593	CLIP-seq
MIRT787897	hsa-miR-607	CLIP-seq
MIRT1932389	hsa-miR-613	CLIP-seq
MIRT1932390	hsa-miR-654-3p	CLIP-seq
MIRT1932372	hsa-miR-1	CLIP-seq
MIRT2172698	hsa-miR-1226	CLIP-seq
MIRT787848	hsa-miR-1246	CLIP-seq
MIRT2172699	hsa-miR-1253	CLIP-seq
MIRT2172700	hsa-miR-1285	CLIP-seq
MIRT1932373	hsa-miR-146b-3p	CLIP-seq
MIRT1932374	hsa-miR-190	CLIP-seq
MIRT1932375	hsa-miR-190b	CLIP-seq
MIRT2172701	hsa-miR-1910	CLIP-seq
MIRT1932376	hsa-miR-206	CLIP-seq
MIRT787858	hsa-miR-217	CLIP-seq
MIRT1932377	hsa-miR-2277-3p	CLIP-seq
MIRT2172702	hsa-miR-3130-5p	CLIP-seq
MIRT2172703	hsa-miR-3150b-3p	CLIP-seq
MIRT2172704	hsa-miR-3154	CLIP-seq
MIRT2172705	hsa-miR-3163	CLIP-seq
MIRT2172706	hsa-miR-3185	CLIP-seq
MIRT2172707	hsa-miR-3187-5p	CLIP-seq
MIRT2172708	hsa-miR-329	CLIP-seq
MIRT1932378	hsa-miR-339-5p	CLIP-seq
MIRT787863	hsa-miR-34b	CLIP-seq
MIRT787864	hsa-miR-3607-3p	CLIP-seq
MIRT2172709	hsa-miR-362-3p	CLIP-seq
MIRT2172710	hsa-miR-3667-5p	CLIP-seq
MIRT787867	hsa-miR-3671	CLIP-seq
MIRT2172711	hsa-miR-3675-3p	CLIP-seq
MIRT787868	hsa-miR-3686	CLIP-seq
MIRT1932379	hsa-miR-3689a-5p	CLIP-seq
MIRT1932380	hsa-miR-3689b	CLIP-seq
MIRT1932381	hsa-miR-3689e	CLIP-seq
MIRT1932382	hsa-miR-3689f	CLIP-seq
MIRT787870	hsa-miR-3690	CLIP-seq
MIRT2172712	hsa-miR-371b-3p	CLIP-seq
MIRT787871	hsa-miR-380	CLIP-seq
MIRT2172713	hsa-miR-3921	CLIP-seq
MIRT787872	hsa-miR-3924	CLIP-seq
MIRT2172714	hsa-miR-3941	CLIP-seq
MIRT787873	hsa-miR-4254	CLIP-seq
MIRT787875	hsa-miR-4320	CLIP-seq
MIRT787876	hsa-miR-4328	CLIP-seq
MIRT787877	hsa-miR-4428	CLIP-seq
MIRT2172715	hsa-miR-4434	CLIP-seq
MIRT2172716	hsa-miR-4482	CLIP-seq
MIRT787878	hsa-miR-4495	CLIP-seq
MIRT2172717	hsa-miR-450b-3p	CLIP-seq
MIRT2172718	hsa-miR-4516	CLIP-seq
MIRT2172719	hsa-miR-4528	CLIP-seq
MIRT2172720	hsa-miR-455-3p	CLIP-seq
MIRT787880	hsa-miR-4645-3p	CLIP-seq
MIRT2172721	hsa-miR-4653-5p	CLIP-seq
MIRT787883	hsa-miR-4666-3p	CLIP-seq
MIRT1932383	hsa-miR-4681	CLIP-seq
MIRT2172722	hsa-miR-4689	CLIP-seq
MIRT1932384	hsa-miR-4690-3p	CLIP-seq
MIRT2172723	hsa-miR-4695-5p	CLIP-seq
MIRT2172724	hsa-miR-4704-3p	CLIP-seq
MIRT2172725	hsa-miR-4713-3p	CLIP-seq
MIRT2172726	hsa-miR-4717-5p	CLIP-seq
MIRT2172727	hsa-miR-4726-3p	CLIP-seq
MIRT2172728	hsa-miR-4733-3p	CLIP-seq
MIRT2172729	hsa-miR-4733-5p	CLIP-seq
MIRT2172730	hsa-miR-4749-3p	CLIP-seq
MIRT1932385	hsa-miR-4753-3p	CLIP-seq
MIRT787888	hsa-miR-4762-5p	CLIP-seq
MIRT787889	hsa-miR-4778-5p	CLIP-seq
MIRT2172731	hsa-miR-4784	CLIP-seq
MIRT1932386	hsa-miR-503	CLIP-seq
MIRT1932387	hsa-miR-548p	CLIP-seq
MIRT2172732	hsa-miR-577	CLIP-seq
MIRT1932388	hsa-miR-593	CLIP-seq
MIRT2172733	hsa-miR-603	CLIP-seq
MIRT787897	hsa-miR-607	CLIP-seq
MIRT2172734	hsa-miR-612	CLIP-seq
MIRT1932389	hsa-miR-613	CLIP-seq
MIRT2172735	hsa-miR-638	CLIP-seq
MIRT2172736	hsa-miR-642b	CLIP-seq
MIRT1932390	hsa-miR-654-3p	CLIP-seq
MIRT2172737	hsa-miR-769-3p	CLIP-seq
MIRT787882	hsa-miR-4646-5p	CLIP-seq
MIRT1932374	hsa-miR-190	CLIP-seq
MIRT1932375	hsa-miR-190b	CLIP-seq
MIRT1932377	hsa-miR-2277-3p	CLIP-seq
MIRT1932379	hsa-miR-3689a-5p	CLIP-seq
MIRT1932380	hsa-miR-3689b	CLIP-seq
MIRT1932381	hsa-miR-3689e	CLIP-seq
MIRT1932382	hsa-miR-3689f	CLIP-seq
MIRT1932386	hsa-miR-503	CLIP-seq
MIRT2172736	hsa-miR-642b	CLIP-seq
MIRT1932390	hsa-miR-654-3p	CLIP-seq
MIRT1932372	hsa-miR-1	CLIP-seq
MIRT2475763	hsa-miR-1260	CLIP-seq
MIRT2475764	hsa-miR-1260b	CLIP-seq
MIRT2475765	hsa-miR-185	CLIP-seq
MIRT2475766	hsa-miR-188-3p	CLIP-seq
MIRT1932374	hsa-miR-190	CLIP-seq
MIRT1932375	hsa-miR-190b	CLIP-seq
MIRT1932376	hsa-miR-206	CLIP-seq
MIRT1932377	hsa-miR-2277-3p	CLIP-seq
MIRT787860	hsa-miR-31	CLIP-seq
MIRT2475767	hsa-miR-3128	CLIP-seq
MIRT2475768	hsa-miR-3156-3p	CLIP-seq
MIRT2475769	hsa-miR-3192	CLIP-seq
MIRT1932379	hsa-miR-3689a-5p	CLIP-seq
MIRT1932380	hsa-miR-3689b	CLIP-seq
MIRT1932381	hsa-miR-3689e	CLIP-seq
MIRT1932382	hsa-miR-3689f	CLIP-seq
MIRT2475770	hsa-miR-4301	CLIP-seq
MIRT2475771	hsa-miR-4306	CLIP-seq
MIRT2475772	hsa-miR-4314	CLIP-seq
MIRT2475773	hsa-miR-4315	CLIP-seq
MIRT2475774	hsa-miR-4318	CLIP-seq
MIRT2475775	hsa-miR-4644	CLIP-seq
MIRT787882	hsa-miR-4646-5p	CLIP-seq
MIRT1932383	hsa-miR-4681	CLIP-seq
MIRT2475776	hsa-miR-4696	CLIP-seq
MIRT1932385	hsa-miR-4753-3p	CLIP-seq
MIRT1932386	hsa-miR-503	CLIP-seq
MIRT1932387	hsa-miR-548p	CLIP-seq
MIRT1932388	hsa-miR-593	CLIP-seq
MIRT1932389	hsa-miR-613	CLIP-seq
MIRT2475777	hsa-miR-614	CLIP-seq
MIRT2172736	hsa-miR-642b	CLIP-seq
MIRT1932390	hsa-miR-654-3p	CLIP-seq
MIRT1932372	hsa-miR-1	CLIP-seq
MIRT2475763	hsa-miR-1260	CLIP-seq
MIRT2475764	hsa-miR-1260b	CLIP-seq
MIRT2475766	hsa-miR-188-3p	CLIP-seq
MIRT1932374	hsa-miR-190	CLIP-seq
MIRT1932375	hsa-miR-190b	CLIP-seq
MIRT787854	hsa-miR-194	CLIP-seq
MIRT1932376	hsa-miR-206	CLIP-seq
MIRT1932377	hsa-miR-2277-3p	CLIP-seq
MIRT787860	hsa-miR-31	CLIP-seq
MIRT2475767	hsa-miR-3128	CLIP-seq
MIRT2475768	hsa-miR-3156-3p	CLIP-seq
MIRT787862	hsa-miR-3173-5p	CLIP-seq
MIRT2675093	hsa-miR-3183	CLIP-seq
MIRT1932379	hsa-miR-3689a-5p	CLIP-seq
MIRT1932380	hsa-miR-3689b	CLIP-seq
MIRT1932381	hsa-miR-3689e	CLIP-seq
MIRT1932382	hsa-miR-3689f	CLIP-seq
MIRT787871	hsa-miR-380	CLIP-seq
MIRT787872	hsa-miR-3924	CLIP-seq
MIRT2675094	hsa-miR-4292	CLIP-seq
MIRT2475770	hsa-miR-4301	CLIP-seq
MIRT2675095	hsa-miR-4308	CLIP-seq
MIRT2475773	hsa-miR-4315	CLIP-seq
MIRT787878	hsa-miR-4495	CLIP-seq
MIRT787883	hsa-miR-4666-3p	CLIP-seq
MIRT1932383	hsa-miR-4681	CLIP-seq
MIRT2475776	hsa-miR-4696	CLIP-seq
MIRT2675096	hsa-miR-4723-3p	CLIP-seq
MIRT1932385	hsa-miR-4753-3p	CLIP-seq
MIRT787891	hsa-miR-485-3p	CLIP-seq
MIRT787892	hsa-miR-487a	CLIP-seq
MIRT1932386	hsa-miR-503	CLIP-seq
MIRT1932387	hsa-miR-548p	CLIP-seq
MIRT1932388	hsa-miR-593	CLIP-seq
MIRT1932389	hsa-miR-613	CLIP-seq
MIRT2475777	hsa-miR-614	CLIP-seq
MIRT2172736	hsa-miR-642b	CLIP-seq
MIRT1932390	hsa-miR-654-3p	CLIP-seq
MIRT2675097	hsa-miR-9	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0005515	Function	Protein binding	IPI	15598649
GO:0005737	Component	Cytoplasm	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005769	Component	Early endosome	NAS	23247405
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	TAS	9151686
GO:0006605	Process	Protein targeting	IEA
GO:0006623	Process	Protein targeting to vacuole	IBA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006886	Process	Intracellular protein transport	TAS	9151686
GO:0006896	Process	Golgi to vacuole transport	IBA
GO:0007041	Process	Lysosomal transport	IEA
GO:0008089	Process	Anterograde axonal transport	IEA
GO:0008089	Process	Anterograde axonal transport	ISS
GO:0010008	Component	Endosome membrane	IBA
GO:0010008	Component	Endosome membrane	IDA	16162817
GO:0010008	Component	Endosome membrane	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016050	Process	Vesicle organization	IEA
GO:0016182	Process	Synaptic vesicle budding from endosome	IBA
GO:0016182	Process	Synaptic vesicle budding from endosome	IEA
GO:0016183	Process	Synaptic vesicle coating	NAS	15537701
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016192	Process	Vesicle-mediated transport	NAS	23247405
GO:0019882	Process	Antigen processing and presentation	IEA
GO:0030117	Component	Membrane coat	IEA
GO:0030123	Component	AP-3 adaptor complex	IBA
GO:0030123	Component	AP-3 adaptor complex	IEA
GO:0030123	Component	AP-3 adaptor complex	NAS	9151686
GO:0030424	Component	Axon	IEA
GO:0032438	Process	Melanosome organization	IC	22511774
GO:0033365	Process	Protein localization to organelle	IEA
GO:0035646	Process	Endosome to melanosome transport	IMP	22511774
GO:0035654	Process	Clathrin-coated vesicle cargo loading, AP-3-mediated	NAS	9545220
GO:0036465	Process	Synaptic vesicle recycling	NAS	15537701
GO:0043195	Component	Terminal bouton	IBA
GO:0043195	Component	Terminal bouton	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048007	Process	Antigen processing and presentation, exogenous lipid antigen via MHC class Ib	IEA
GO:0048490	Process	Anterograde synaptic vesicle transport	IBA
GO:0048490	Process	Anterograde synaptic vesicle transport	IEA
GO:0048490	Process	Anterograde synaptic vesicle transport	ISS
GO:0048499	Process	Synaptic vesicle membrane organization	IBA
GO:0048499	Process	Synaptic vesicle membrane organization	IEA
GO:0051138	Process	Positive regulation of NK T cell differentiation	IEA
GO:0060155	Process	Platelet dense granule organization	NAS	23247405
GO:0072657	Process	Protein localization to membrane	IMP	22511774
GO:0098793	Component	Presynapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098830	Component	Presynaptic endosome	IBA
GO:0098830	Component	Presynaptic endosome	IEA
GO:0098943	Process	Neurotransmitter receptor transport, postsynaptic endosome to lysosome	IBA
GO:0098943	Process	Neurotransmitter receptor transport, postsynaptic endosome to lysosome	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099003	Process	Vesicle-mediated transport in synapse	IEA
GO:0140916	Process	Zinc ion import into lysosome	IMP	17349999
GO:1903232	Process	Melanosome assembly	NAS	23247405
GO:1904115	Component	Axon cytoplasm	IEA

MIM	HGNC	e!Ensembl
607246	568	ENSG00000065000

O14617

Protein name

AP-3 complex subunit delta-1 (AP-3 complex subunit delta) (Adaptor-related protein complex 3 subunit delta-1) (Delta-adaptin)

Protein function

Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may

PDB

4AFI , 9C58 , 9C59 , 9C5B , 9C5C

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01602	Adaptin_N	32 → 583	Adaptin N terminal region	Family
PF06375	AP3D1	661 → 807		Family

Tissue specificity

TISSUE SPECIFICITY: Present in all adult tissues examined with the highest levels in skeletal muscle, heart, pancreas and testis. {ECO:0000269|PubMed:9151686}.

Sequence

MALKMVKGSIDRMFDKNLQDLVRGIRNHKEDEAKYISQCIDEIKQELKQDNIAVKANAVC
KLTYLQMLGYDISWAAFNIIEVMSASKFTFKRIGYLAASQSFHEGTDVIMLTTNQIRKDL
SSPSQYDTGVALTGLSCFVTPDLARDLANDIMTLMSHTKPYIRKKAVLIMYKVFLKYPES
LRPAFPRLKEKLEDPDPGVQSAAVNVICELARRNPKNYLSLAPLFFKLMTSSTNNWVLIK
IIKLFGALTPLEPRLGKKLIEPLTNLIHSTSAMSLLYECVNTVIAVLISLSSGMPNHSAS
IQLCVQKLRILIEDSDQNLKYLGLLAMSKILKTHPKSVQSHKDLILQCLDDKDESIRLRA
LDLLYGMVSKKNLMEIVKKLMTHVDKAEGTTYRDELLTKIIDICSQSNYQYITNFEWYIS
ILVELTRLEGTRHGHLIAAQMLDVAIRVKAIRKFAVSQMSALLDSAHLLASSTQRNGICE
VLYAAAWICGEFSEHLQEPHHTLEAMLRPRVTTLPGHIQAVYVQNVVKLYASILQQKEQA
GEAEGAQAVTQLMVDRLPQFVQSADLEVQERASCILQLVKHIQKLQAKDVPVAEEVSALF
AGELNPVAPKAQKKVPVPEGLDLDAWINEPLSDSESEDERPRAVFHEEEQRRPKHRPSEA
DEEELARRREARKQEQANNPFYIKSSPSPQKRYQDTPGVEHIPVVQIDLSVPLKVPGLPM
SDQYVKLEEERRHRQKLEKDKRRKKRKEKEKKGKRRHSSLPTESDEDIAPAQQVDIVTEE
MPENALPSDEDDKDPNDPYRALDIDLDKPLADSEKLPIQKHRNTETSKSPEKDVPMVEKK
SKKPKKKEKKHKEKERDKEKKKEKEKKKSPKPKKKKHRKEKEERTKGKKKSKKQPPGSEE
AAGEPVQNGAPEEEQLPPESSYSLLAENSYVKMTCDIRGSLQEDSQVTVAIVLENRSSSI
LKGMELSVLDSLNARMARPQGSSVHDGVPVPFQLPPGVSNEAQYVFTIQSIVMAQKLKGT
LSFIAKNDEGATHEKLDFRLHFSCSSYLITTPCYSDAFAKLLESGDLSMSSIKVDGIRMS
FQNLLAKICFHHHFSVVERVDSCASMYSRSIQGHHVCLLVKKGENSVSVDGKCSDSTLLS
NLLEEMKATLAKC

Sequence length

1153

Interactions

View interactions

	KEGG
	Lysosome

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hermansky-Pudlak syndrome 10	Pathogenic	rs879255646	RCV000239510	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (36)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Abnormal bleeding	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AP3D1-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEAR CELL RENAL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET SEVERE HERMANSKY-PUDLAK SYNDROME WITH HEARING LOSS, DUE TO AP3D1 DEFICIENCY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EMPHYSEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALISED EPILEPSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERMANSKI-PUDLAK SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hermansky-Pudlak syndrome 2	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
KIDNEY CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ocular albinism	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR ALBINISM WITH LATE-ONSET SENSORINEURAL DEAFNESS	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED RECESSIVE OCULAR ALBINISM	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (45)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Albinism	Albinism	BEFREE	26744459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	GENOMICS_ENGLAND_DG	26744459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	Pubtator	26744459	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	ORPHANET_DG	26744459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	BEFREE	30472485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	24916648, 34188129	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet-type bleeding disorder	GENOMICS_ENGLAND_DG	27900855		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	34188129	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34188129	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	34188129	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30472485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	34831286	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	34188129	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	19436707, 26744459, 30472485		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	GENOMICS_ENGLAND_DG	26744459		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERMANSKY-PUDLAK SYNDROME 10	Hermansky-Pudlak Syndrome	GENOMICS_ENGLAND_DG	26744459		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HERMANSKY-PUDLAK SYNDROME 10	Hermansky-Pudlak Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic Attack Transient	Transient ischemic attack	Pubtator	34188129	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic Stroke	Ischemic stroke	Pubtator	34188129	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Miosis disorder	Miosis Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	24916648		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	GWASDB_DG	24916648		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	GWASCAT_DG	24916648		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	24916648	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nervous system disorder	Nervous System Disorder	BEFREE	26744459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	GENOMICS_ENGLAND_DG	26744459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ocular albinism	Ocular albinism	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Platelet Storage Pool Deficiency	Platelet Storage Pool Deficiency	BEFREE	26744459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	34166600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	26744459	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

AP3D1 (adaptor related protein complex 3 subunit delta 1)