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AP3D1 (adaptor related protein complex 3 subunit delta 1)

Gene

8943

Adaptor related protein complex 3 subunit delta 1

AP3D1

ADTD, HPS10, hBLVR

19p13.3

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

Show/Hide all(293)

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

Show/Hide all(29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0005515	Function	Protein binding	IPI	15598649
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005794	Component	Golgi apparatus	TAS	9151686
GO:0006623	Process	Protein targeting to vacuole	IBA	21873635
GO:0006886	Process	Intracellular protein transport	TAS	9151686
GO:0006896	Process	Golgi to vacuole transport	IBA	21873635
GO:0008089	Process	Anterograde axonal transport	ISS
GO:0010008	Component	Endosome membrane	IBA	21873635
GO:0010008	Component	Endosome membrane	IDA	16162817
GO:0016020	Component	Membrane	HDA	19946888
GO:0016182	Process	Synaptic vesicle budding from endosome	IBA	21873635
GO:0030123	Component	AP-3 adaptor complex	IBA	21873635
GO:0032438	Process	Melanosome organization	IC	22511774
GO:0035646	Process	Endosome to melanosome transport	IMP	22511774
GO:0043195	Component	Terminal bouton	IBA	21873635
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	21873635
GO:0048490	Process	Anterograde synaptic vesicle transport	ISS
GO:0048499	Process	Synaptic vesicle membrane organization	IBA	21873635
GO:0051138	Process	Positive regulation of NK T cell differentiation	IEA
GO:0061088	Process	Regulation of sequestering of zinc ion	IMP	17349999
GO:0072657	Process	Protein localization to membrane	IMP	22511774
GO:0098794	Component	Postsynapse	IEA
GO:0098830	Component	Presynaptic endosome	IBA	21873635
GO:0098943	Process	Neurotransmitter receptor transport, postsynaptic endosome to lysosome	IBA	21873635
GO:0098978	Component	Glutamatergic synapse	IEA
GO:1904115	Component	Axon cytoplasm	IEA

MIM	HGNC	e!Ensembl
607246	568	ENSG00000065000

Protein

UniProt ID

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

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

Associated diseases

Show/Hide Causal Diseases (9)

Causal
Disease name	Disease term	dbSNP ID	References
Albinism	Albinism	rs28940876, rs387906560, rs62635045, rs140365820, rs141949212, rs1384042381, rs62635042	26744459
Hermansky-pudlak syndrome	Hermanski-Pudlak Syndrome, HERMANSKY-PUDLAK SYNDROME 10	rs281865116, rs281865113, rs281865103, rs104893945, rs119471021, rs281865100, rs281865097, rs119471022, rs119471023, rs119471024, rs119471025, rs201227603, rs281865093, rs397507168, rs281865095, rs121908316, rs281865163, rs281865082, rs121908385, rs121908386, rs281865081, rs281865077, rs121908904, rs1000881595, rs121908905, rs121908906, rs121908907, rs281865084, rs281865086, rs281865088, rs281865090, rs281865075, rs281865076, rs281865080, rs281865104, rs281865105, rs397507169, rs281865101, rs201348482, rs1564899492, rs281865114, rs281865110, rs281865107, rs281865112, rs727502866, rs786205464, rs869312835, rs869312836, rs869312837, rs869312838, rs369053765, rs879255646, rs886041723, rs1591055649, rs753928208, rs113304476, rs1131692151, rs1131692149, rs1131692146, rs1131692148, rs1131692147, rs764296457, rs1131692150, rs1131692332, rs1131692333, rs766602179, rs281865115, rs1554903728, rs1220869113, rs773323079, rs1554948134, rs1486224265, rs1277509410, rs1553750083, rs372020804, rs1564899012, rs1590262288, rs753185316, rs1553750097, rs780183200, rs1576695913, rs1576708708, rs1590262450, rs756471925, rs1478574193, rs1590263807, rs1590263820, rs779921624, rs755827664, rs374689398, rs886077189, rs1591120765, rs1260083432, rs748883997, rs750685598, rs778152054, rs755083879, rs1488175163, rs1591092841, rs1576687466, rs756325364, rs1591002808, rs1591045080, rs1602079277, rs1591109881, rs1591031929, rs200079039, rs1595560288, rs772475341, rs1330496818, rs1745947620, rs552340796, rs1453977337, rs754841982, rs1568469902, rs1763106978	26744459
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Myocardial infarction	Myocardial Infarction	rs12316150, rs41303970, rs909253, rs7291467, rs2234693	24916648
Neutropenia	Neutropenia	rs879253882	26744459
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Ocular albinism	Albinism, Ocular, Ocular albinism	rs137852296, rs137852297, rs62635018, rs62645741, rs281865178, rs281865183, rs281865184, rs672601353, rs1057518841, rs1057518763, rs1057518787	26744459
Platelet-type bleeding disorder	Blood Platelet Disorders	rs1560045738, rs70961716, rs142186404, rs121918035, rs121918444, rs760074158, rs2146873791, rs387907345, rs387907346, rs387907348, rs387907350, rs397989794, rs587777211, rs587777529, rs724159972, rs572295823, rs550565800, rs869320714, rs869320716, rs757188030, rs1057518838, rs1057518837, rs148051111, rs1555122100, rs1554724694, rs755459581, rs752492512, rs1592371840, rs747559032, rs778608263, rs148910227, rs3211901, rs1594755688, rs1594760036, rs1594760140, rs1594768463, rs1594771224, rs1594771270, rs551607784, rs774996406, rs200434813	27900855
Seizure	Tonic - clonic seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Show/Hide Unknown Diseases (9)

Unknown
Disease name	Disease term	dbSNP ID	References
Astigmatism	Astigmatism
Cerebral atrophy	Cerebral atrophy
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes
Lung diseases	Lung Diseases, Interstitial
Macrotia	Macrotia
Miosis disorder	Miosis disorder
Myoclonic seizures	Generalized myoclonic seizures
Nyctalopia	Nyctalopia
Strabismus	Strabismus

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