AP1S1 (adaptor related protein complex 1 subunit sigma 1)

Gene

• Entrez ID: 1174
• Gene name: Adaptor related protein complex 1 subunit sigma 1
• Gene symbol: AP1S1
• Synonyms (NCBI Gene): AP19, CLAPS1, EKV3, MEDNIK, SIGMA1A
• Chromosome: 7
• Chromosome location: 7q22.1
• Summary: The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adapti

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs751430853	A>G	Pathogenic	Splice acceptor variant
rs981747624	T>C,G	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs1584203922	C>T	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005815	hsa-miR-204-5p	Microarray	21282569
MIRT023801	hsa-miR-1-3p	Microarray	18668037
MIRT544682	hsa-miR-4524b-3p	PAR-CLIP	21572407
MIRT544681	hsa-miR-1182	PAR-CLIP	21572407
MIRT544679	hsa-miR-4781-3p	PAR-CLIP	21572407
MIRT544680	hsa-miR-1304-3p	PAR-CLIP	21572407
MIRT544678	hsa-miR-4524a-3p	PAR-CLIP	21572407
MIRT544677	hsa-miR-6499-3p	PAR-CLIP	21572407
MIRT544676	hsa-miR-3135b	PAR-CLIP	21572407
MIRT544675	hsa-miR-504-3p	PAR-CLIP	21572407
MIRT544674	hsa-miR-122-5p	PAR-CLIP	21572407
MIRT544672	hsa-miR-3652	PAR-CLIP	21572407
MIRT544673	hsa-miR-4430	PAR-CLIP	21572407
MIRT544671	hsa-miR-143-5p	PAR-CLIP	21572407
MIRT544670	hsa-miR-6501-5p	PAR-CLIP	21572407
MIRT544669	hsa-miR-4423-5p	PAR-CLIP	21572407
MIRT544668	hsa-miR-744-3p	PAR-CLIP	21572407
MIRT544667	hsa-miR-5698	PAR-CLIP	21572407
MIRT481853	hsa-let-7d-5p	PAR-CLIP	23592263
MIRT481852	hsa-let-7c-5p	PAR-CLIP	23592263
MIRT481851	hsa-let-7e-5p	PAR-CLIP	23592263
MIRT481850	hsa-let-7g-5p	PAR-CLIP	23592263
MIRT481849	hsa-let-7b-5p	PAR-CLIP	23592263
MIRT481848	hsa-miR-98-5p	PAR-CLIP	23592263
MIRT481846	hsa-miR-4458	PAR-CLIP	23592263
MIRT481847	hsa-let-7i-5p	PAR-CLIP	23592263
MIRT481845	hsa-let-7f-5p	PAR-CLIP	23592263
MIRT481844	hsa-let-7a-5p	PAR-CLIP	23592263
MIRT481843	hsa-miR-4500	PAR-CLIP	23592263
MIRT361507	hsa-miR-4796-3p	PAR-CLIP	23592263
MIRT481841	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT481842	hsa-miR-5693	PAR-CLIP	23592263
MIRT481840	hsa-miR-194-3p	PAR-CLIP	23592263
MIRT481839	hsa-miR-6124	PAR-CLIP	23592263
MIRT481838	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT481837	hsa-miR-3153	PAR-CLIP	23592263
MIRT481836	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT481835	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT481834	hsa-miR-7847-3p	PAR-CLIP	23592263
MIRT481833	hsa-miR-4276	PAR-CLIP	23592263
MIRT481844	hsa-let-7a-5p	PAR-CLIP	26701625
MIRT481849	hsa-let-7b-5p	PAR-CLIP	26701625
MIRT481852	hsa-let-7c-5p	PAR-CLIP	26701625
MIRT481853	hsa-let-7d-5p	PAR-CLIP	26701625
MIRT481851	hsa-let-7e-5p	PAR-CLIP	26701625
MIRT481845	hsa-let-7f-5p	PAR-CLIP	26701625
MIRT481850	hsa-let-7g-5p	PAR-CLIP	26701625
MIRT481847	hsa-let-7i-5p	PAR-CLIP	26701625
MIRT481840	hsa-miR-194-3p	PAR-CLIP	26701625
MIRT481837	hsa-miR-3153	PAR-CLIP	26701625
MIRT481833	hsa-miR-4276	PAR-CLIP	26701625
MIRT481846	hsa-miR-4458	PAR-CLIP	26701625
MIRT481843	hsa-miR-4500	PAR-CLIP	26701625
MIRT481838	hsa-miR-4668-5p	PAR-CLIP	26701625
MIRT361507	hsa-miR-4796-3p	PAR-CLIP	26701625
MIRT481842	hsa-miR-5693	PAR-CLIP	26701625
MIRT481839	hsa-miR-6124	PAR-CLIP	26701625
MIRT481836	hsa-miR-6733-5p	PAR-CLIP	26701625
MIRT481835	hsa-miR-6739-5p	PAR-CLIP	26701625
MIRT481841	hsa-miR-6783-5p	PAR-CLIP	26701625
MIRT481834	hsa-miR-7847-3p	PAR-CLIP	26701625
MIRT481848	hsa-miR-98-5p	PAR-CLIP	26701625
MIRT544678	hsa-miR-4524a-3p	HITS-CLIP	27418678
MIRT544682	hsa-miR-4524b-3p	PAR-CLIP	21572407
MIRT544681	hsa-miR-1182	PAR-CLIP	21572407
MIRT544679	hsa-miR-4781-3p	PAR-CLIP	21572407
MIRT544680	hsa-miR-1304-3p	PAR-CLIP	21572407
MIRT544678	hsa-miR-4524a-3p	PAR-CLIP	21572407
MIRT544677	hsa-miR-6499-3p	PAR-CLIP	21572407
MIRT544676	hsa-miR-3135b	PAR-CLIP	21572407
MIRT544675	hsa-miR-504-3p	PAR-CLIP	21572407
MIRT544674	hsa-miR-122-5p	PAR-CLIP	21572407
MIRT544672	hsa-miR-3652	PAR-CLIP	21572407
MIRT544673	hsa-miR-4430	PAR-CLIP	21572407
MIRT544671	hsa-miR-143-5p	PAR-CLIP	21572407
MIRT544670	hsa-miR-6501-5p	PAR-CLIP	21572407
MIRT544669	hsa-miR-4423-5p	PAR-CLIP	21572407
MIRT544668	hsa-miR-744-3p	PAR-CLIP	21572407
MIRT544667	hsa-miR-5698	PAR-CLIP	21572407
MIRT481853	hsa-let-7d-5p	PAR-CLIP	23592263
MIRT481852	hsa-let-7c-5p	PAR-CLIP	23592263
MIRT481851	hsa-let-7e-5p	PAR-CLIP	23592263
MIRT481850	hsa-let-7g-5p	PAR-CLIP	23592263
MIRT481849	hsa-let-7b-5p	PAR-CLIP	23592263
MIRT481848	hsa-miR-98-5p	PAR-CLIP	23592263
MIRT481846	hsa-miR-4458	PAR-CLIP	23592263
MIRT481847	hsa-let-7i-5p	PAR-CLIP	23592263
MIRT481845	hsa-let-7f-5p	PAR-CLIP	23592263
MIRT481844	hsa-let-7a-5p	PAR-CLIP	23592263
MIRT481843	hsa-miR-4500	PAR-CLIP	23592263
MIRT361507	hsa-miR-4796-3p	PAR-CLIP	23592263
MIRT481841	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT481842	hsa-miR-5693	PAR-CLIP	23592263
MIRT481840	hsa-miR-194-3p	PAR-CLIP	23592263
MIRT481839	hsa-miR-6124	PAR-CLIP	23592263
MIRT481838	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT481837	hsa-miR-3153	PAR-CLIP	23592263
MIRT481836	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT481835	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT481834	hsa-miR-7847-3p	PAR-CLIP	23592263
MIRT481833	hsa-miR-4276	PAR-CLIP	23592263
MIRT787206	hsa-miR-1207-5p	CLIP-seq
MIRT787207	hsa-miR-1224-3p	CLIP-seq
MIRT787208	hsa-miR-1243	CLIP-seq
MIRT787209	hsa-miR-1260	CLIP-seq
MIRT787210	hsa-miR-1260b	CLIP-seq
MIRT787211	hsa-miR-1261	CLIP-seq
MIRT787212	hsa-miR-1280	CLIP-seq
MIRT787213	hsa-miR-1321	CLIP-seq
MIRT787214	hsa-miR-146b-3p	CLIP-seq
MIRT787215	hsa-miR-1827	CLIP-seq
MIRT787216	hsa-miR-2276	CLIP-seq
MIRT787217	hsa-miR-23a	CLIP-seq
MIRT787218	hsa-miR-23b	CLIP-seq
MIRT787219	hsa-miR-23c	CLIP-seq
MIRT787220	hsa-miR-2467-3p	CLIP-seq
MIRT787221	hsa-miR-29a	CLIP-seq
MIRT787222	hsa-miR-29b	CLIP-seq
MIRT787223	hsa-miR-29c	CLIP-seq
MIRT787224	hsa-miR-3074-5p	CLIP-seq
MIRT787225	hsa-miR-3162-5p	CLIP-seq
MIRT787226	hsa-miR-3173-5p	CLIP-seq
MIRT787227	hsa-miR-3184	CLIP-seq
MIRT787228	hsa-miR-342-5p	CLIP-seq
MIRT787229	hsa-miR-3714	CLIP-seq
MIRT787230	hsa-miR-371b-3p	CLIP-seq
MIRT787231	hsa-miR-3913-3p	CLIP-seq
MIRT787232	hsa-miR-423-5p	CLIP-seq
MIRT787233	hsa-miR-4277	CLIP-seq
MIRT787234	hsa-miR-4292	CLIP-seq
MIRT787235	hsa-miR-4308	CLIP-seq
MIRT787236	hsa-miR-4316	CLIP-seq
MIRT787237	hsa-miR-4326	CLIP-seq
MIRT787238	hsa-miR-4533	CLIP-seq
MIRT787239	hsa-miR-4651	CLIP-seq
MIRT787240	hsa-miR-4664-5p	CLIP-seq
MIRT787241	hsa-miR-4667-5p	CLIP-seq
MIRT787242	hsa-miR-4688	CLIP-seq
MIRT787243	hsa-miR-4691-5p	CLIP-seq
MIRT787244	hsa-miR-4699-3p	CLIP-seq
MIRT787245	hsa-miR-4700-5p	CLIP-seq
MIRT787246	hsa-miR-4710	CLIP-seq
MIRT787247	hsa-miR-4722-3p	CLIP-seq
MIRT787248	hsa-miR-4728-5p	CLIP-seq
MIRT787249	hsa-miR-4739	CLIP-seq
MIRT787250	hsa-miR-4747-5p	CLIP-seq
MIRT787251	hsa-miR-4756-5p	CLIP-seq
MIRT787252	hsa-miR-4763-3p	CLIP-seq
MIRT787253	hsa-miR-4772-3p	CLIP-seq
MIRT787254	hsa-miR-4779	CLIP-seq
MIRT787255	hsa-miR-4799-5p	CLIP-seq
MIRT787256	hsa-miR-483-3p	CLIP-seq
MIRT787257	hsa-miR-486-3p	CLIP-seq
MIRT787258	hsa-miR-489	CLIP-seq
MIRT787259	hsa-miR-518a-5p	CLIP-seq
MIRT787260	hsa-miR-527	CLIP-seq
MIRT787261	hsa-miR-544	CLIP-seq
MIRT787262	hsa-miR-548aa	CLIP-seq
MIRT787263	hsa-miR-548an	CLIP-seq
MIRT787264	hsa-miR-582-5p	CLIP-seq
MIRT787265	hsa-miR-608	CLIP-seq
MIRT787266	hsa-miR-637	CLIP-seq
MIRT787267	hsa-miR-874	CLIP-seq
MIRT787268	hsa-miR-922	CLIP-seq
MIRT787269	hsa-miR-940	CLIP-seq
MIRT787207	hsa-miR-1224-3p	CLIP-seq
MIRT787209	hsa-miR-1260	CLIP-seq
MIRT787210	hsa-miR-1260b	CLIP-seq
MIRT787212	hsa-miR-1280	CLIP-seq
MIRT1932197	hsa-let-7a	CLIP-seq
MIRT1932198	hsa-let-7b	CLIP-seq
MIRT1932199	hsa-let-7c	CLIP-seq
MIRT1932200	hsa-let-7d	CLIP-seq
MIRT1932201	hsa-let-7e	CLIP-seq
MIRT1932202	hsa-let-7f	CLIP-seq
MIRT1932203	hsa-let-7g	CLIP-seq
MIRT1932204	hsa-let-7i	CLIP-seq
MIRT1932205	hsa-miR-1184	CLIP-seq
MIRT787206	hsa-miR-1207-5p	CLIP-seq
MIRT787208	hsa-miR-1243	CLIP-seq
MIRT787211	hsa-miR-1261	CLIP-seq
MIRT787213	hsa-miR-1321	CLIP-seq
MIRT787214	hsa-miR-146b-3p	CLIP-seq
MIRT1932206	hsa-miR-204	CLIP-seq
MIRT1932207	hsa-miR-211	CLIP-seq
MIRT787216	hsa-miR-2276	CLIP-seq
MIRT787217	hsa-miR-23a	CLIP-seq
MIRT787218	hsa-miR-23b	CLIP-seq
MIRT787219	hsa-miR-23c	CLIP-seq
MIRT787221	hsa-miR-29a	CLIP-seq
MIRT787222	hsa-miR-29b	CLIP-seq
MIRT787223	hsa-miR-29c	CLIP-seq
MIRT787224	hsa-miR-3074-5p	CLIP-seq
MIRT1932208	hsa-miR-3140-3p	CLIP-seq
MIRT787225	hsa-miR-3162-5p	CLIP-seq
MIRT1932209	hsa-miR-3166	CLIP-seq
MIRT787226	hsa-miR-3173-5p	CLIP-seq
MIRT787228	hsa-miR-342-5p	CLIP-seq
MIRT787229	hsa-miR-3714	CLIP-seq
MIRT787230	hsa-miR-371b-3p	CLIP-seq
MIRT787231	hsa-miR-3913-3p	CLIP-seq
MIRT1932210	hsa-miR-3942-3p	CLIP-seq
MIRT787233	hsa-miR-4277	CLIP-seq
MIRT1932211	hsa-miR-4286	CLIP-seq
MIRT1932212	hsa-miR-4418	CLIP-seq
MIRT1932213	hsa-miR-4428	CLIP-seq
MIRT1932214	hsa-miR-4446-5p	CLIP-seq
MIRT1932215	hsa-miR-4484	CLIP-seq
MIRT787238	hsa-miR-4533	CLIP-seq
MIRT787239	hsa-miR-4651	CLIP-seq
MIRT787240	hsa-miR-4664-5p	CLIP-seq
MIRT787241	hsa-miR-4667-5p	CLIP-seq
MIRT787244	hsa-miR-4699-3p	CLIP-seq
MIRT787245	hsa-miR-4700-5p	CLIP-seq
MIRT787247	hsa-miR-4722-3p	CLIP-seq
MIRT787248	hsa-miR-4728-5p	CLIP-seq
MIRT787249	hsa-miR-4739	CLIP-seq
MIRT787250	hsa-miR-4747-5p	CLIP-seq
MIRT1932216	hsa-miR-4755-5p	CLIP-seq
MIRT787251	hsa-miR-4756-5p	CLIP-seq
MIRT1932217	hsa-miR-4758-3p	CLIP-seq
MIRT787252	hsa-miR-4763-3p	CLIP-seq
MIRT787253	hsa-miR-4772-3p	CLIP-seq
MIRT787255	hsa-miR-4799-5p	CLIP-seq
MIRT787258	hsa-miR-489	CLIP-seq
MIRT1932218	hsa-miR-490-3p	CLIP-seq
MIRT1932219	hsa-miR-509-3-5p	CLIP-seq
MIRT1932220	hsa-miR-509-5p	CLIP-seq
MIRT787259	hsa-miR-518a-5p	CLIP-seq
MIRT787260	hsa-miR-527	CLIP-seq
MIRT787261	hsa-miR-544	CLIP-seq
MIRT787262	hsa-miR-548aa	CLIP-seq
MIRT787263	hsa-miR-548an	CLIP-seq
MIRT787264	hsa-miR-582-5p	CLIP-seq
MIRT787265	hsa-miR-608	CLIP-seq
MIRT1932221	hsa-miR-623	CLIP-seq
MIRT787266	hsa-miR-637	CLIP-seq
MIRT1932222	hsa-miR-649	CLIP-seq
MIRT787267	hsa-miR-874	CLIP-seq
MIRT787269	hsa-miR-940	CLIP-seq
MIRT1932223	hsa-miR-98	CLIP-seq
MIRT1932197	hsa-let-7a	CLIP-seq
MIRT1932198	hsa-let-7b	CLIP-seq
MIRT1932199	hsa-let-7c	CLIP-seq
MIRT1932200	hsa-let-7d	CLIP-seq
MIRT1932201	hsa-let-7e	CLIP-seq
MIRT1932202	hsa-let-7f	CLIP-seq
MIRT1932203	hsa-let-7g	CLIP-seq
MIRT1932204	hsa-let-7i	CLIP-seq
MIRT1932205	hsa-miR-1184	CLIP-seq
MIRT787206	hsa-miR-1207-5p	CLIP-seq
MIRT787207	hsa-miR-1224-3p	CLIP-seq
MIRT787208	hsa-miR-1243	CLIP-seq
MIRT787209	hsa-miR-1260	CLIP-seq
MIRT787210	hsa-miR-1260b	CLIP-seq
MIRT787211	hsa-miR-1261	CLIP-seq
MIRT787212	hsa-miR-1280	CLIP-seq
MIRT787213	hsa-miR-1321	CLIP-seq
MIRT787215	hsa-miR-1827	CLIP-seq
MIRT1932206	hsa-miR-204	CLIP-seq
MIRT1932207	hsa-miR-211	CLIP-seq
MIRT787216	hsa-miR-2276	CLIP-seq
MIRT787217	hsa-miR-23a	CLIP-seq
MIRT787218	hsa-miR-23b	CLIP-seq
MIRT787219	hsa-miR-23c	CLIP-seq
MIRT787220	hsa-miR-2467-3p	CLIP-seq
MIRT787221	hsa-miR-29a	CLIP-seq
MIRT787222	hsa-miR-29b	CLIP-seq
MIRT787223	hsa-miR-29c	CLIP-seq
MIRT787224	hsa-miR-3074-5p	CLIP-seq
MIRT787225	hsa-miR-3162-5p	CLIP-seq
MIRT1932209	hsa-miR-3166	CLIP-seq
MIRT787227	hsa-miR-3184	CLIP-seq
MIRT2172583	hsa-miR-3679-3p	CLIP-seq
MIRT787229	hsa-miR-3714	CLIP-seq
MIRT787231	hsa-miR-3913-3p	CLIP-seq
MIRT787232	hsa-miR-423-5p	CLIP-seq
MIRT787233	hsa-miR-4277	CLIP-seq
MIRT1932211	hsa-miR-4286	CLIP-seq
MIRT787236	hsa-miR-4316	CLIP-seq
MIRT1932212	hsa-miR-4418	CLIP-seq
MIRT1932214	hsa-miR-4446-5p	CLIP-seq
MIRT1932215	hsa-miR-4484	CLIP-seq
MIRT787238	hsa-miR-4533	CLIP-seq
MIRT787242	hsa-miR-4688	CLIP-seq
MIRT787244	hsa-miR-4699-3p	CLIP-seq
MIRT787246	hsa-miR-4710	CLIP-seq
MIRT787247	hsa-miR-4722-3p	CLIP-seq
MIRT787248	hsa-miR-4728-5p	CLIP-seq
MIRT787249	hsa-miR-4739	CLIP-seq
MIRT787250	hsa-miR-4747-5p	CLIP-seq
MIRT1932216	hsa-miR-4755-5p	CLIP-seq
MIRT787251	hsa-miR-4756-5p	CLIP-seq
MIRT1932217	hsa-miR-4758-3p	CLIP-seq
MIRT787252	hsa-miR-4763-3p	CLIP-seq
MIRT787253	hsa-miR-4772-3p	CLIP-seq
MIRT2172584	hsa-miR-4773	CLIP-seq
MIRT787254	hsa-miR-4779	CLIP-seq
MIRT787255	hsa-miR-4799-5p	CLIP-seq
MIRT787257	hsa-miR-486-3p	CLIP-seq
MIRT787258	hsa-miR-489	CLIP-seq
MIRT1932218	hsa-miR-490-3p	CLIP-seq
MIRT1932219	hsa-miR-509-3-5p	CLIP-seq
MIRT1932220	hsa-miR-509-5p	CLIP-seq
MIRT787259	hsa-miR-518a-5p	CLIP-seq
MIRT787260	hsa-miR-527	CLIP-seq
MIRT787261	hsa-miR-544	CLIP-seq
MIRT787262	hsa-miR-548aa	CLIP-seq
MIRT787263	hsa-miR-548an	CLIP-seq
MIRT787264	hsa-miR-582-5p	CLIP-seq
MIRT1932221	hsa-miR-623	CLIP-seq
MIRT1932222	hsa-miR-649	CLIP-seq
MIRT787268	hsa-miR-922	CLIP-seq
MIRT787269	hsa-miR-940	CLIP-seq
MIRT1932223	hsa-miR-98	CLIP-seq
MIRT1932205	hsa-miR-1184	CLIP-seq
MIRT787208	hsa-miR-1243	CLIP-seq
MIRT787211	hsa-miR-1261	CLIP-seq
MIRT1932211	hsa-miR-4286	CLIP-seq
MIRT1932212	hsa-miR-4418	CLIP-seq
MIRT1932213	hsa-miR-4428	CLIP-seq
MIRT1932215	hsa-miR-4484	CLIP-seq
MIRT787247	hsa-miR-4722-3p	CLIP-seq
MIRT1932217	hsa-miR-4758-3p	CLIP-seq
MIRT1932219	hsa-miR-509-3-5p	CLIP-seq
MIRT1932220	hsa-miR-509-5p	CLIP-seq
MIRT787263	hsa-miR-548an	CLIP-seq
MIRT1932205	hsa-miR-1184	CLIP-seq
MIRT787208	hsa-miR-1243	CLIP-seq
MIRT2475568	hsa-miR-1254	CLIP-seq
MIRT787211	hsa-miR-1261	CLIP-seq
MIRT787213	hsa-miR-1321	CLIP-seq
MIRT2475569	hsa-miR-1915	CLIP-seq
MIRT2475570	hsa-miR-22	CLIP-seq
MIRT2475571	hsa-miR-3064-5p	CLIP-seq
MIRT2475572	hsa-miR-3116	CLIP-seq
MIRT2475573	hsa-miR-3155	CLIP-seq
MIRT2475574	hsa-miR-3155b	CLIP-seq
MIRT787225	hsa-miR-3162-5p	CLIP-seq
MIRT2475575	hsa-miR-3919	CLIP-seq
MIRT1932211	hsa-miR-4286	CLIP-seq
MIRT1932212	hsa-miR-4418	CLIP-seq
MIRT1932213	hsa-miR-4428	CLIP-seq
MIRT1932215	hsa-miR-4484	CLIP-seq
MIRT2475576	hsa-miR-4505	CLIP-seq
MIRT2475577	hsa-miR-4514	CLIP-seq
MIRT2475578	hsa-miR-4645-5p	CLIP-seq
MIRT2475579	hsa-miR-4673	CLIP-seq
MIRT2475580	hsa-miR-4692	CLIP-seq
MIRT787244	hsa-miR-4699-3p	CLIP-seq
MIRT2475581	hsa-miR-4723-5p	CLIP-seq
MIRT2475582	hsa-miR-4726-3p	CLIP-seq
MIRT787248	hsa-miR-4728-5p	CLIP-seq
MIRT787249	hsa-miR-4739	CLIP-seq
MIRT787251	hsa-miR-4756-5p	CLIP-seq
MIRT1932217	hsa-miR-4758-3p	CLIP-seq
MIRT2475583	hsa-miR-4794	CLIP-seq
MIRT2475584	hsa-miR-484	CLIP-seq
MIRT1932219	hsa-miR-509-3-5p	CLIP-seq
MIRT1932220	hsa-miR-509-5p	CLIP-seq
MIRT787263	hsa-miR-548an	CLIP-seq
MIRT787264	hsa-miR-582-5p	CLIP-seq
MIRT2475585	hsa-miR-583	CLIP-seq
MIRT2475586	hsa-miR-615-5p	CLIP-seq
MIRT2475587	hsa-miR-661	CLIP-seq
MIRT1932205	hsa-miR-1184	CLIP-seq
MIRT787208	hsa-miR-1243	CLIP-seq
MIRT2475568	hsa-miR-1254	CLIP-seq
MIRT787211	hsa-miR-1261	CLIP-seq
MIRT2475569	hsa-miR-1915	CLIP-seq
MIRT2475570	hsa-miR-22	CLIP-seq
MIRT2475571	hsa-miR-3064-5p	CLIP-seq
MIRT2475572	hsa-miR-3116	CLIP-seq
MIRT2475573	hsa-miR-3155	CLIP-seq
MIRT2475574	hsa-miR-3155b	CLIP-seq
MIRT787225	hsa-miR-3162-5p	CLIP-seq
MIRT2675087	hsa-miR-3918	CLIP-seq
MIRT2475575	hsa-miR-3919	CLIP-seq
MIRT1932211	hsa-miR-4286	CLIP-seq
MIRT1932212	hsa-miR-4418	CLIP-seq
MIRT1932213	hsa-miR-4428	CLIP-seq
MIRT1932215	hsa-miR-4484	CLIP-seq
MIRT2475576	hsa-miR-4505	CLIP-seq
MIRT2475577	hsa-miR-4514	CLIP-seq
MIRT2675088	hsa-miR-4640-5p	CLIP-seq
MIRT2475578	hsa-miR-4645-5p	CLIP-seq
MIRT2475579	hsa-miR-4673	CLIP-seq
MIRT2675089	hsa-miR-4685-5p	CLIP-seq
MIRT2475580	hsa-miR-4692	CLIP-seq
MIRT787244	hsa-miR-4699-3p	CLIP-seq
MIRT2475581	hsa-miR-4723-5p	CLIP-seq
MIRT2475582	hsa-miR-4726-3p	CLIP-seq
MIRT2675090	hsa-miR-4726-5p	CLIP-seq
MIRT787248	hsa-miR-4728-5p	CLIP-seq
MIRT2675091	hsa-miR-4753-5p	CLIP-seq
MIRT1932217	hsa-miR-4758-3p	CLIP-seq
MIRT2475583	hsa-miR-4794	CLIP-seq
MIRT2475584	hsa-miR-484	CLIP-seq
MIRT2675092	hsa-miR-488	CLIP-seq
MIRT1932219	hsa-miR-509-3-5p	CLIP-seq
MIRT1932220	hsa-miR-509-5p	CLIP-seq
MIRT787263	hsa-miR-548an	CLIP-seq
MIRT787264	hsa-miR-582-5p	CLIP-seq
MIRT2475585	hsa-miR-583	CLIP-seq
MIRT2475586	hsa-miR-615-5p	CLIP-seq
MIRT2475587	hsa-miR-661	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005765	Component	Lysosomal membrane	NAS	23247405
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005769	Component	Early endosome	NAS	23247405
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006898	Process	Receptor-mediated endocytosis	TAS	9733768
GO:0009615	Process	Response to virus	IEP	16548883
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IBA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016192	Process	Vesicle-mediated transport	NAS	23247405, 27057418
GO:0030117	Component	Membrane coat	IEA
GO:0030121	Component	AP-1 adaptor complex	IEA
GO:0030121	Component	AP-1 adaptor complex	NAS	15377783, 27057418
GO:0030121	Component	AP-1 adaptor complex	TAS	9733768
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	TAS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032588	Component	Trans-Golgi network membrane	IEA
GO:0032588	Component	Trans-Golgi network membrane	NAS	15377783, 27057418
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0035615	Function	Clathrin adaptor activity	IEA
GO:0042147	Process	Retrograde transport, endosome to Golgi	IEA
GO:0043195	Component	Terminal bouton	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0060155	Process	Platelet dense granule organization	NAS	23247405
GO:0098793	Component	Presynapse	IEA
GO:0110010	Process	Basolateral protein secretion	NAS	27057418
GO:1903232	Process	Melanosome assembly	NAS	23247405

Other IDs

• MIM: 603531
• HGNC: 559
• e!Ensembl: ENSG00000106367

Protein

• UniProt ID: P61966
• Protein name: AP-1 complex subunit sigma-1A (Adaptor protein complex AP-1 subunit sigma-1A) (Adaptor-related protein complex 1 subunit sigma-1A) (Clathrin assembly protein complex 1 sigma-1A small chain) (Clathrin coat assembly protein AP19) (Golgi adaptor HA1/AP1 adap
• Protein function: Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognitio
• PDB: 4P6Z
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01217	Clat_adaptor_s	1 → 142	Clathrin adaptor complex small chain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:9733768}.
• Sequence:

  MMRFMLLFSRQGKLRLQKWYLATSDKERKKMVRELMQVVLARKPKMCSFLEWRDLKVVYK
  RYASLYFCCAIEGQDNELITLELIHRYVELLDKYFGSVCELDIIFNFEKAYFILDEFLMG
  GDVQDTSKKSVLKAIEQADLLQEEDESPRSVLEEMGLA

• Sequence length: 158

Pathways

KEGG:

Lysosome
Human immunodeficiency virus 1 infection

Reactome:

Nef mediated downregulation of MHC class I complex cell surface expression
MHC class II antigen presentation
Lysosome Vesicle Biogenesis
Golgi Associated Vesicle Biogenesis

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
AP1S1-related disorder	Pathogenic	rs751430853	RCV004758617	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MEDNIK syndrome	Likely pathogenic; Pathogenic	rs754496700, rs751430853, rs767358930, rs981747624, rs1584203922, rs1310110289	RCV005047809 RCV000033081 RCV001215772 RCV001731918 RCV000991383 RCV000991384 RCV005047259	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, INTRAHEPATIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHROKERATODERMIA VARIABILIS 3	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRAHEPATIC CHOLESTASIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPIDOSES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPOIDOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cholestasis	Cholestasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	15668823		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	32306098	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	32306098	Associate	★☆☆☆☆ Found in Text Mining only
Dysentery	Dysentery	Pubtator	32306098	Associate	★☆☆☆☆ Found in Text Mining only
Erythrokeratodermia Variabilis 3	Erythrokeratodermia variabilis	Pubtator	31630791	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythrokeratodermia Variabilis 3	Erythrokeratodermia variabilis	Pubtator	32306098	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHROKERATODERMIA VARIABILIS 3 (disorder)	Erythrokeratoderma	BEFREE	15668823, 19057675, 24754424, 30244301, 31630791		★☆☆☆☆ Found in Text Mining only
ERYTHROKERATODERMIA VARIABILIS 3 (disorder)	Erythrokeratoderma	GENOMICS_ENGLAND_DG	19057675, 23423674, 24754424		★☆☆☆☆ Found in Text Mining only
ERYTHROKERATODERMIA VARIABILIS 3 (disorder)	Erythrokeratoderma	ORPHANET_DG	19057675		★☆☆☆☆ Found in Text Mining only
ERYTHROKERATODERMIA VARIABILIS 3 (disorder)	Erythrokeratoderma	CTD_human_DG	23423674		★☆☆☆☆ Found in Text Mining only
ERYTHROKERATODERMIA VARIABILIS 3 (disorder)	Erythrokeratoderma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	31137733	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypocupremia	Hypocupremia	BEFREE	23423674		★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	15668823		★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	32306098	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	24754424		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	32306098	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis	Intrahepatic Cholestasis	CTD_human_DG	23423674		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intrahepatic Cholestasis	Intrahepatic Cholestasis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lipoidosis	Lipoidosis	CTD_human_DG	17175557		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEDNIK syndrome	MEDNIK Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mental Retardation	Mental retardation	BEFREE	24754424		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	32306098	Associate	★☆☆☆☆ Found in Text Mining only
Neurocutaneous Syndromes	Neurocutaneous Syndromes	LHGDN	19057675		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only