ERLIN1 (ER lipid raft associated 1)

Gene

• Entrez ID: 10613
• Gene name: ER lipid raft associated 1
• Gene symbol: ERLIN1
• Synonyms (NCBI Gene): C10orf69, Erlin-1, KE04, KEO4, SPFH1, SPG62
• Chromosome: 10
• Chromosome location: 10q24.31
• Summary: The protein encoded by this gene is part of a protein complex that mediates degradation of inositol 1,4,5-trisphosphate receptors in the endoplasmic reticulum. The encoded protein also binds cholesterol and regulates the SREBP signaling pathway, which pro

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs876657413	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs876661322	C>A	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, 5 prime UTR variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025383	hsa-miR-34a-5p	Proteomics	21566225
MIRT025383	hsa-miR-34a-5p	Proteomics	21566225
MIRT025383	hsa-miR-34a-5p	Proteomics	21566225
MIRT025383	hsa-miR-34a-5p	Proteomics	21566225
MIRT025383	hsa-miR-34a-5p	Proteomics	21566225
MIRT028682	hsa-miR-30a-5p	Proteomics	18668040
MIRT051010	hsa-miR-17-5p	CLASH	23622248
MIRT047975	hsa-miR-30c-5p	CLASH	23622248
MIRT047667	hsa-miR-10a-5p	CLASH	23622248
MIRT047443	hsa-miR-10b-5p	CLASH	23622248
MIRT025383	hsa-miR-34a-5p	CLASH	23622248
MIRT025383	hsa-miR-34a-5p	CLASH	23622248
MIRT039885	hsa-miR-615-3p	CLASH	23622248
MIRT440711	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440711	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT028682	hsa-miR-30a-5p	HITS-CLIP	22473208
MIRT727747	hsa-miR-30b-5p	HITS-CLIP	22473208
MIRT047975	hsa-miR-30c-5p	HITS-CLIP	22473208
MIRT727746	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT727745	hsa-miR-30e-5p	HITS-CLIP	22473208
MIRT969239	hsa-miR-103a	CLIP-seq
MIRT969240	hsa-miR-106a	CLIP-seq
MIRT969241	hsa-miR-106b	CLIP-seq
MIRT969242	hsa-miR-107	CLIP-seq
MIRT969243	hsa-miR-1184	CLIP-seq
MIRT969244	hsa-miR-1205	CLIP-seq
MIRT969245	hsa-miR-1229	CLIP-seq
MIRT969246	hsa-miR-1234	CLIP-seq
MIRT969247	hsa-miR-1238	CLIP-seq
MIRT969248	hsa-miR-1254	CLIP-seq
MIRT969249	hsa-miR-1255a	CLIP-seq
MIRT969250	hsa-miR-1255b	CLIP-seq
MIRT969251	hsa-miR-1285	CLIP-seq
MIRT969252	hsa-miR-1286	CLIP-seq
MIRT969253	hsa-miR-1343	CLIP-seq
MIRT969254	hsa-miR-142-5p	CLIP-seq
MIRT969255	hsa-miR-145	CLIP-seq
MIRT969256	hsa-miR-148a	CLIP-seq
MIRT969257	hsa-miR-148b	CLIP-seq
MIRT969258	hsa-miR-152	CLIP-seq
MIRT969259	hsa-miR-17	CLIP-seq
MIRT969260	hsa-miR-1825	CLIP-seq
MIRT969261	hsa-miR-18a	CLIP-seq
MIRT969262	hsa-miR-18b	CLIP-seq
MIRT969263	hsa-miR-190	CLIP-seq
MIRT969264	hsa-miR-1909	CLIP-seq
MIRT969265	hsa-miR-190b	CLIP-seq
MIRT969266	hsa-miR-199a-5p	CLIP-seq
MIRT969267	hsa-miR-199b-5p	CLIP-seq
MIRT969268	hsa-miR-19a	CLIP-seq
MIRT969269	hsa-miR-19b	CLIP-seq
MIRT969270	hsa-miR-20a	CLIP-seq
MIRT969271	hsa-miR-20b	CLIP-seq
MIRT969272	hsa-miR-2110	CLIP-seq
MIRT969273	hsa-miR-2682	CLIP-seq
MIRT969274	hsa-miR-3074-5p	CLIP-seq
MIRT969275	hsa-miR-30a	CLIP-seq
MIRT969276	hsa-miR-30b	CLIP-seq
MIRT969277	hsa-miR-30c	CLIP-seq
MIRT969278	hsa-miR-30d	CLIP-seq
MIRT969279	hsa-miR-30e	CLIP-seq
MIRT969280	hsa-miR-3116	CLIP-seq
MIRT969281	hsa-miR-3124-3p	CLIP-seq
MIRT969282	hsa-miR-3143	CLIP-seq
MIRT969283	hsa-miR-3158-5p	CLIP-seq
MIRT969284	hsa-miR-3161	CLIP-seq
MIRT969285	hsa-miR-3187-5p	CLIP-seq
MIRT969286	hsa-miR-3191	CLIP-seq
MIRT969287	hsa-miR-3194-5p	CLIP-seq
MIRT969288	hsa-miR-34b	CLIP-seq
MIRT969289	hsa-miR-3591-5p	CLIP-seq
MIRT969290	hsa-miR-3609	CLIP-seq
MIRT969291	hsa-miR-3660	CLIP-seq
MIRT969292	hsa-miR-3675-5p	CLIP-seq
MIRT969293	hsa-miR-3679-3p	CLIP-seq
MIRT969294	hsa-miR-378g	CLIP-seq
MIRT969295	hsa-miR-3922-5p	CLIP-seq
MIRT969296	hsa-miR-421	CLIP-seq
MIRT969297	hsa-miR-4255	CLIP-seq
MIRT969298	hsa-miR-4257	CLIP-seq
MIRT969299	hsa-miR-4271	CLIP-seq
MIRT969300	hsa-miR-4272	CLIP-seq
MIRT969301	hsa-miR-4274	CLIP-seq
MIRT969302	hsa-miR-433	CLIP-seq
MIRT969303	hsa-miR-4418	CLIP-seq
MIRT969304	hsa-miR-4432	CLIP-seq
MIRT969305	hsa-miR-4434	CLIP-seq
MIRT969306	hsa-miR-4471	CLIP-seq
MIRT969307	hsa-miR-4486	CLIP-seq
MIRT969308	hsa-miR-4494	CLIP-seq
MIRT969309	hsa-miR-4495	CLIP-seq
MIRT969310	hsa-miR-4496	CLIP-seq
MIRT969311	hsa-miR-449c	CLIP-seq
MIRT969312	hsa-miR-4514	CLIP-seq
MIRT969313	hsa-miR-4516	CLIP-seq
MIRT969314	hsa-miR-4519	CLIP-seq
MIRT969315	hsa-miR-4526	CLIP-seq
MIRT969316	hsa-miR-4531	CLIP-seq
MIRT969317	hsa-miR-4532	CLIP-seq
MIRT969318	hsa-miR-4645-3p	CLIP-seq
MIRT969319	hsa-miR-4663	CLIP-seq
MIRT969320	hsa-miR-4667-5p	CLIP-seq
MIRT969321	hsa-miR-4692	CLIP-seq
MIRT969322	hsa-miR-4695-3p	CLIP-seq
MIRT969323	hsa-miR-4700-5p	CLIP-seq
MIRT969324	hsa-miR-4707-5p	CLIP-seq
MIRT969325	hsa-miR-4708-3p	CLIP-seq
MIRT969326	hsa-miR-4709-5p	CLIP-seq
MIRT969327	hsa-miR-4711-5p	CLIP-seq
MIRT969328	hsa-miR-4717-3p	CLIP-seq
MIRT969329	hsa-miR-4722-5p	CLIP-seq
MIRT969330	hsa-miR-4725-3p	CLIP-seq
MIRT969331	hsa-miR-4728-3p	CLIP-seq
MIRT969332	hsa-miR-4735-3p	CLIP-seq
MIRT969333	hsa-miR-4776-3p	CLIP-seq
MIRT969334	hsa-miR-4790-3p	CLIP-seq
MIRT969335	hsa-miR-4796-3p	CLIP-seq
MIRT969336	hsa-miR-4802-3p	CLIP-seq
MIRT969337	hsa-miR-4802-5p	CLIP-seq
MIRT969338	hsa-miR-486-3p	CLIP-seq
MIRT969339	hsa-miR-490-5p	CLIP-seq
MIRT969340	hsa-miR-499-5p	CLIP-seq
MIRT969341	hsa-miR-499a-5p	CLIP-seq
MIRT969342	hsa-miR-509-3-5p	CLIP-seq
MIRT969343	hsa-miR-509-5p	CLIP-seq
MIRT969344	hsa-miR-519d	CLIP-seq
MIRT969345	hsa-miR-543	CLIP-seq
MIRT969346	hsa-miR-548ah	CLIP-seq
MIRT969347	hsa-miR-570	CLIP-seq
MIRT969348	hsa-miR-612	CLIP-seq
MIRT969349	hsa-miR-628-5p	CLIP-seq
MIRT969350	hsa-miR-640	CLIP-seq
MIRT969351	hsa-miR-93	CLIP-seq
MIRT1548424	hsa-miR-4759	CLIP-seq
MIRT969239	hsa-miR-103a	CLIP-seq
MIRT969240	hsa-miR-106a	CLIP-seq
MIRT969241	hsa-miR-106b	CLIP-seq
MIRT969242	hsa-miR-107	CLIP-seq
MIRT969243	hsa-miR-1184	CLIP-seq
MIRT969244	hsa-miR-1205	CLIP-seq
MIRT1987231	hsa-miR-1207-3p	CLIP-seq
MIRT969247	hsa-miR-1238	CLIP-seq
MIRT1987232	hsa-miR-136	CLIP-seq
MIRT969254	hsa-miR-142-5p	CLIP-seq
MIRT969255	hsa-miR-145	CLIP-seq
MIRT969256	hsa-miR-148a	CLIP-seq
MIRT969257	hsa-miR-148b	CLIP-seq
MIRT969258	hsa-miR-152	CLIP-seq
MIRT969259	hsa-miR-17	CLIP-seq
MIRT969260	hsa-miR-1825	CLIP-seq
MIRT969266	hsa-miR-199a-5p	CLIP-seq
MIRT969267	hsa-miR-199b-5p	CLIP-seq
MIRT969270	hsa-miR-20a	CLIP-seq
MIRT969271	hsa-miR-20b	CLIP-seq
MIRT1987233	hsa-miR-2277-3p	CLIP-seq
MIRT969273	hsa-miR-2682	CLIP-seq
MIRT969281	hsa-miR-3124-3p	CLIP-seq
MIRT969282	hsa-miR-3143	CLIP-seq
MIRT969283	hsa-miR-3158-5p	CLIP-seq
MIRT1987234	hsa-miR-339-5p	CLIP-seq
MIRT1987235	hsa-miR-3545-5p	CLIP-seq
MIRT969289	hsa-miR-3591-5p	CLIP-seq
MIRT969290	hsa-miR-3609	CLIP-seq
MIRT969291	hsa-miR-3660	CLIP-seq
MIRT1987236	hsa-miR-3663-3p	CLIP-seq
MIRT1987237	hsa-miR-3692	CLIP-seq
MIRT1987238	hsa-miR-374a	CLIP-seq
MIRT1987239	hsa-miR-374b	CLIP-seq
MIRT969294	hsa-miR-378g	CLIP-seq
MIRT969297	hsa-miR-4255	CLIP-seq
MIRT969298	hsa-miR-4257	CLIP-seq
MIRT969301	hsa-miR-4274	CLIP-seq
MIRT1987240	hsa-miR-4281	CLIP-seq
MIRT969305	hsa-miR-4434	CLIP-seq
MIRT969308	hsa-miR-4494	CLIP-seq
MIRT969310	hsa-miR-4496	CLIP-seq
MIRT969311	hsa-miR-449c	CLIP-seq
MIRT1987241	hsa-miR-4503	CLIP-seq
MIRT969312	hsa-miR-4514	CLIP-seq
MIRT969313	hsa-miR-4516	CLIP-seq
MIRT969314	hsa-miR-4519	CLIP-seq
MIRT969315	hsa-miR-4526	CLIP-seq
MIRT969316	hsa-miR-4531	CLIP-seq
MIRT1987242	hsa-miR-4650-5p	CLIP-seq
MIRT1987243	hsa-miR-4691-5p	CLIP-seq
MIRT969321	hsa-miR-4692	CLIP-seq
MIRT969327	hsa-miR-4711-5p	CLIP-seq
MIRT1548424	hsa-miR-4759	CLIP-seq
MIRT1987244	hsa-miR-4766-5p	CLIP-seq
MIRT1987245	hsa-miR-4777-5p	CLIP-seq
MIRT1987246	hsa-miR-4795-5p	CLIP-seq
MIRT969335	hsa-miR-4796-3p	CLIP-seq
MIRT969341	hsa-miR-499a-5p	CLIP-seq
MIRT1987247	hsa-miR-515-5p	CLIP-seq
MIRT1987248	hsa-miR-518d-5p	CLIP-seq
MIRT1987249	hsa-miR-519b-5p	CLIP-seq
MIRT1987250	hsa-miR-519c-5p	CLIP-seq
MIRT969344	hsa-miR-519d	CLIP-seq
MIRT1987251	hsa-miR-520c-5p	CLIP-seq
MIRT1987252	hsa-miR-526a	CLIP-seq
MIRT969345	hsa-miR-543	CLIP-seq
MIRT969346	hsa-miR-548ah	CLIP-seq
MIRT969347	hsa-miR-570	CLIP-seq
MIRT969351	hsa-miR-93	CLIP-seq
MIRT1987253	hsa-miR-944	CLIP-seq
MIRT969239	hsa-miR-103a	CLIP-seq
MIRT969242	hsa-miR-107	CLIP-seq
MIRT969244	hsa-miR-1205	CLIP-seq
MIRT1987231	hsa-miR-1207-3p	CLIP-seq
MIRT2221724	hsa-miR-1243	CLIP-seq
MIRT2221725	hsa-miR-1245b-3p	CLIP-seq
MIRT969249	hsa-miR-1255a	CLIP-seq
MIRT969250	hsa-miR-1255b	CLIP-seq
MIRT969253	hsa-miR-1343	CLIP-seq
MIRT2221726	hsa-miR-3065-5p	CLIP-seq
MIRT2221727	hsa-miR-3199	CLIP-seq
MIRT969291	hsa-miR-3660	CLIP-seq
MIRT2221728	hsa-miR-4493	CLIP-seq
MIRT2221729	hsa-miR-4505	CLIP-seq
MIRT2221730	hsa-miR-4515	CLIP-seq
MIRT969315	hsa-miR-4526	CLIP-seq
MIRT969329	hsa-miR-4722-5p	CLIP-seq
MIRT2221731	hsa-miR-4733-5p	CLIP-seq
MIRT1548424	hsa-miR-4759	CLIP-seq
MIRT2221732	hsa-miR-4768-3p	CLIP-seq
MIRT1987246	hsa-miR-4795-5p	CLIP-seq
MIRT2221733	hsa-miR-495	CLIP-seq
MIRT2221734	hsa-miR-548g	CLIP-seq
MIRT969240	hsa-miR-106a	CLIP-seq
MIRT969241	hsa-miR-106b	CLIP-seq
MIRT969254	hsa-miR-142-5p	CLIP-seq
MIRT969259	hsa-miR-17	CLIP-seq
MIRT969270	hsa-miR-20a	CLIP-seq
MIRT969271	hsa-miR-20b	CLIP-seq
MIRT969281	hsa-miR-3124-3p	CLIP-seq
MIRT969290	hsa-miR-3609	CLIP-seq
MIRT969291	hsa-miR-3660	CLIP-seq
MIRT2387531	hsa-miR-3672	CLIP-seq
MIRT969294	hsa-miR-378g	CLIP-seq
MIRT2387532	hsa-miR-4499	CLIP-seq
MIRT2387533	hsa-miR-4513	CLIP-seq
MIRT969315	hsa-miR-4526	CLIP-seq
MIRT969335	hsa-miR-4796-3p	CLIP-seq
MIRT969344	hsa-miR-519d	CLIP-seq
MIRT969346	hsa-miR-548ah	CLIP-seq
MIRT969351	hsa-miR-93	CLIP-seq
MIRT969240	hsa-miR-106a	CLIP-seq
MIRT969241	hsa-miR-106b	CLIP-seq
MIRT2525365	hsa-miR-1267	CLIP-seq
MIRT2525366	hsa-miR-129-5p	CLIP-seq
MIRT969254	hsa-miR-142-5p	CLIP-seq
MIRT969259	hsa-miR-17	CLIP-seq
MIRT2525367	hsa-miR-1972	CLIP-seq
MIRT2525368	hsa-miR-208a	CLIP-seq
MIRT2525369	hsa-miR-208b	CLIP-seq
MIRT969270	hsa-miR-20a	CLIP-seq
MIRT969271	hsa-miR-20b	CLIP-seq
MIRT1987233	hsa-miR-2277-3p	CLIP-seq
MIRT2525370	hsa-miR-27a	CLIP-seq
MIRT2525371	hsa-miR-27b	CLIP-seq
MIRT2525372	hsa-miR-298	CLIP-seq
MIRT2525373	hsa-miR-302a	CLIP-seq
MIRT2525374	hsa-miR-302b	CLIP-seq
MIRT2525375	hsa-miR-302c	CLIP-seq
MIRT2525376	hsa-miR-302d	CLIP-seq
MIRT2525377	hsa-miR-302e	CLIP-seq
MIRT2525378	hsa-miR-3064-3p	CLIP-seq
MIRT969281	hsa-miR-3124-3p	CLIP-seq
MIRT2525379	hsa-miR-3148	CLIP-seq
MIRT1987234	hsa-miR-339-5p	CLIP-seq
MIRT1987235	hsa-miR-3545-5p	CLIP-seq
MIRT969290	hsa-miR-3609	CLIP-seq
MIRT2525380	hsa-miR-3647-3p	CLIP-seq
MIRT2525381	hsa-miR-3658	CLIP-seq
MIRT969291	hsa-miR-3660	CLIP-seq
MIRT2525382	hsa-miR-3664-5p	CLIP-seq
MIRT2525383	hsa-miR-3688-3p	CLIP-seq
MIRT2525384	hsa-miR-372	CLIP-seq
MIRT2525385	hsa-miR-373	CLIP-seq
MIRT2525386	hsa-miR-377	CLIP-seq
MIRT969294	hsa-miR-378g	CLIP-seq
MIRT969296	hsa-miR-421	CLIP-seq
MIRT1987240	hsa-miR-4281	CLIP-seq
MIRT2525387	hsa-miR-4326	CLIP-seq
MIRT2525388	hsa-miR-4420	CLIP-seq
MIRT969304	hsa-miR-4432	CLIP-seq
MIRT2525389	hsa-miR-4446-5p	CLIP-seq
MIRT1987241	hsa-miR-4503	CLIP-seq
MIRT969315	hsa-miR-4526	CLIP-seq
MIRT2525390	hsa-miR-4643	CLIP-seq
MIRT1987242	hsa-miR-4650-5p	CLIP-seq
MIRT2525391	hsa-miR-4690-3p	CLIP-seq
MIRT2525392	hsa-miR-4709-3p	CLIP-seq
MIRT969328	hsa-miR-4717-3p	CLIP-seq
MIRT2525393	hsa-miR-4731-3p	CLIP-seq
MIRT2525394	hsa-miR-4755-5p	CLIP-seq
MIRT2525395	hsa-miR-4764-3p	CLIP-seq
MIRT1987244	hsa-miR-4766-5p	CLIP-seq
MIRT1987245	hsa-miR-4777-5p	CLIP-seq
MIRT1987246	hsa-miR-4795-5p	CLIP-seq
MIRT969335	hsa-miR-4796-3p	CLIP-seq
MIRT2525396	hsa-miR-4801	CLIP-seq
MIRT969339	hsa-miR-490-5p	CLIP-seq
MIRT969340	hsa-miR-499-5p	CLIP-seq
MIRT2525397	hsa-miR-510	CLIP-seq
MIRT2525398	hsa-miR-511	CLIP-seq
MIRT2525399	hsa-miR-513a-5p	CLIP-seq
MIRT1987248	hsa-miR-518d-5p	CLIP-seq
MIRT1987249	hsa-miR-519b-5p	CLIP-seq
MIRT1987250	hsa-miR-519c-5p	CLIP-seq
MIRT969344	hsa-miR-519d	CLIP-seq
MIRT2525400	hsa-miR-520a-3p	CLIP-seq
MIRT2525401	hsa-miR-520b	CLIP-seq
MIRT2525402	hsa-miR-520c-3p	CLIP-seq
MIRT1987251	hsa-miR-520c-5p	CLIP-seq
MIRT2525403	hsa-miR-520d-3p	CLIP-seq
MIRT2525404	hsa-miR-520e	CLIP-seq
MIRT2525405	hsa-miR-520f	CLIP-seq
MIRT1987252	hsa-miR-526a	CLIP-seq
MIRT969346	hsa-miR-548ah	CLIP-seq
MIRT2525406	hsa-miR-618	CLIP-seq
MIRT2525407	hsa-miR-653	CLIP-seq
MIRT2525408	hsa-miR-670	CLIP-seq
MIRT969351	hsa-miR-93	CLIP-seq
MIRT969240	hsa-miR-106a	CLIP-seq
MIRT969241	hsa-miR-106b	CLIP-seq
MIRT2680264	hsa-miR-1178	CLIP-seq
MIRT1987231	hsa-miR-1207-3p	CLIP-seq
MIRT2525365	hsa-miR-1267	CLIP-seq
MIRT2680265	hsa-miR-1281	CLIP-seq
MIRT2680266	hsa-miR-1290	CLIP-seq
MIRT2525366	hsa-miR-129-5p	CLIP-seq
MIRT969253	hsa-miR-1343	CLIP-seq
MIRT969254	hsa-miR-142-5p	CLIP-seq
MIRT969259	hsa-miR-17	CLIP-seq
MIRT2525367	hsa-miR-1972	CLIP-seq
MIRT2680267	hsa-miR-1976	CLIP-seq
MIRT2525368	hsa-miR-208a	CLIP-seq
MIRT2525369	hsa-miR-208b	CLIP-seq
MIRT969270	hsa-miR-20a	CLIP-seq
MIRT969271	hsa-miR-20b	CLIP-seq
MIRT1987233	hsa-miR-2277-3p	CLIP-seq
MIRT2525370	hsa-miR-27a	CLIP-seq
MIRT2525371	hsa-miR-27b	CLIP-seq
MIRT2525372	hsa-miR-298	CLIP-seq
MIRT2525373	hsa-miR-302a	CLIP-seq
MIRT2525374	hsa-miR-302b	CLIP-seq
MIRT2525375	hsa-miR-302c	CLIP-seq
MIRT2525376	hsa-miR-302d	CLIP-seq
MIRT2525377	hsa-miR-302e	CLIP-seq
MIRT2525378	hsa-miR-3064-3p	CLIP-seq
MIRT2680268	hsa-miR-3064-5p	CLIP-seq
MIRT969281	hsa-miR-3124-3p	CLIP-seq
MIRT2680269	hsa-miR-3135b	CLIP-seq
MIRT2680270	hsa-miR-3140-3p	CLIP-seq
MIRT2525379	hsa-miR-3148	CLIP-seq
MIRT2680271	hsa-miR-3167	CLIP-seq
MIRT1987234	hsa-miR-339-5p	CLIP-seq
MIRT1987235	hsa-miR-3545-5p	CLIP-seq
MIRT969290	hsa-miR-3609	CLIP-seq
MIRT2525380	hsa-miR-3647-3p	CLIP-seq
MIRT2525381	hsa-miR-3658	CLIP-seq
MIRT969291	hsa-miR-3660	CLIP-seq
MIRT2525382	hsa-miR-3664-5p	CLIP-seq
MIRT2525383	hsa-miR-3688-3p	CLIP-seq
MIRT2525384	hsa-miR-372	CLIP-seq
MIRT2525385	hsa-miR-373	CLIP-seq
MIRT2525386	hsa-miR-377	CLIP-seq
MIRT969294	hsa-miR-378g	CLIP-seq
MIRT2680272	hsa-miR-3918	CLIP-seq
MIRT969296	hsa-miR-421	CLIP-seq
MIRT2680273	hsa-miR-4260	CLIP-seq
MIRT1987240	hsa-miR-4281	CLIP-seq
MIRT2525387	hsa-miR-4326	CLIP-seq
MIRT2525388	hsa-miR-4420	CLIP-seq
MIRT969304	hsa-miR-4432	CLIP-seq
MIRT969305	hsa-miR-4434	CLIP-seq
MIRT2525389	hsa-miR-4446-5p	CLIP-seq
MIRT1987241	hsa-miR-4503	CLIP-seq
MIRT969313	hsa-miR-4516	CLIP-seq
MIRT969315	hsa-miR-4526	CLIP-seq
MIRT2680274	hsa-miR-4529-5p	CLIP-seq
MIRT969316	hsa-miR-4531	CLIP-seq
MIRT2525390	hsa-miR-4643	CLIP-seq
MIRT1987242	hsa-miR-4650-5p	CLIP-seq
MIRT2680275	hsa-miR-4685-5p	CLIP-seq
MIRT2525391	hsa-miR-4690-3p	CLIP-seq
MIRT969322	hsa-miR-4695-3p	CLIP-seq
MIRT2680276	hsa-miR-4697-3p	CLIP-seq
MIRT969328	hsa-miR-4717-3p	CLIP-seq
MIRT2525393	hsa-miR-4731-3p	CLIP-seq
MIRT2525394	hsa-miR-4755-5p	CLIP-seq
MIRT2525395	hsa-miR-4764-3p	CLIP-seq
MIRT1987244	hsa-miR-4766-5p	CLIP-seq
MIRT1987245	hsa-miR-4777-5p	CLIP-seq
MIRT1987246	hsa-miR-4795-5p	CLIP-seq
MIRT969335	hsa-miR-4796-3p	CLIP-seq
MIRT2525396	hsa-miR-4801	CLIP-seq
MIRT969338	hsa-miR-486-3p	CLIP-seq
MIRT969339	hsa-miR-490-5p	CLIP-seq
MIRT969340	hsa-miR-499-5p	CLIP-seq
MIRT2525397	hsa-miR-510	CLIP-seq
MIRT2525398	hsa-miR-511	CLIP-seq
MIRT2525399	hsa-miR-513a-5p	CLIP-seq
MIRT1987248	hsa-miR-518d-5p	CLIP-seq
MIRT1987249	hsa-miR-519b-5p	CLIP-seq
MIRT1987250	hsa-miR-519c-5p	CLIP-seq
MIRT969344	hsa-miR-519d	CLIP-seq
MIRT2525400	hsa-miR-520a-3p	CLIP-seq
MIRT2525401	hsa-miR-520b	CLIP-seq
MIRT2525402	hsa-miR-520c-3p	CLIP-seq
MIRT1987251	hsa-miR-520c-5p	CLIP-seq
MIRT2525403	hsa-miR-520d-3p	CLIP-seq
MIRT2525404	hsa-miR-520e	CLIP-seq
MIRT2525405	hsa-miR-520f	CLIP-seq
MIRT1987252	hsa-miR-526a	CLIP-seq
MIRT969346	hsa-miR-548ah	CLIP-seq
MIRT2680277	hsa-miR-604	CLIP-seq
MIRT2525406	hsa-miR-618	CLIP-seq
MIRT2680278	hsa-miR-637	CLIP-seq
MIRT2680279	hsa-miR-647	CLIP-seq
MIRT2525407	hsa-miR-653	CLIP-seq
MIRT2525408	hsa-miR-670	CLIP-seq
MIRT2680280	hsa-miR-876-5p	CLIP-seq
MIRT2680281	hsa-miR-890	CLIP-seq
MIRT2680282	hsa-miR-892b	CLIP-seq
MIRT969351	hsa-miR-93	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19240031, 21343306, 22119785, 25416956, 28514442, 30021884, 32296183, 33961781
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	16835267, 19240031
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0015485	Function	Cholesterol binding	IBA
GO:0015485	Function	Cholesterol binding	IDA	24217618
GO:0016020	Component	Membrane	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0032933	Process	SREBP signaling pathway	IBA
GO:0032933	Process	SREBP signaling pathway	IEA
GO:0032933	Process	SREBP signaling pathway	IMP	24217618
GO:0032991	Component	Protein-containing complex	IDA	18468998
GO:0032991	Component	Protein-containing complex	IEA
GO:0036503	Process	ERAD pathway	IDA	19240031
GO:0036503	Process	ERAD pathway	IEA
GO:0045121	Component	Membrane raft	NAS	34572057
GO:0045540	Process	Regulation of cholesterol biosynthetic process	IDA	24217618
GO:0045541	Process	Negative regulation of cholesterol biosynthetic process	IEA
GO:0045541	Process	Negative regulation of cholesterol biosynthetic process	IMP	24217618
GO:0045717	Process	Negative regulation of fatty acid biosynthetic process	IEA
GO:0045717	Process	Negative regulation of fatty acid biosynthetic process	IMP	24217618

Other IDs

• MIM: 611604
• HGNC: 16947
• e!Ensembl: ENSG00000107566

Protein

• UniProt ID: O75477
• Protein name: Erlin-1 (Endoplasmic reticulum lipid raft-associated protein 1) (Protein KE04) (Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 1) (SPFH domain-containing protein 1)
• Protein function: Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP s
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01145	Band_7	26 → 216	SPFH domain / Band 7 family	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in heart, placenta, liver, kidney, pancreas, prostate, testis, ovary and small intestine. {ECO:0000269|PubMed:11118313}.
• Sequence:

  MNMTQARVLVAAVVGLVAVLLYASIHKIEEGHLAVYYRGGALLTSPSGPGYHIMLPFITT
  FRSVQTTLQTDEVKNVPCGTSGGVMIYIDRIEVVNMLAPYAVFDIVRNYTADYDKTLIFN
  KIHHELNQFCSAHTLQEVYIELFDQIDENLKQALQKDLNLMAPGLTIQAVRVTKPKIPEA
  IRRNFELMEAEKTKLLIAAQKQKVVEKEAETERKKAVIEAEKIAQVAKIRFQQKVMEKET
  EKRISEIEDAAFLAREKAKADAEYYAAHKYATSNKHKLTPEYLELKKYQAIASNSKIYFG
  SNIPNMFVDSSCALKYSDIRTGRESSLPSKEALEPSGENVIQNKESTG

• Sequence length: 348

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
Hereditary spastic paraplegia	Likely pathogenic	rs2134100639	RCV001848428	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia 62	Pathogenic	rs876661322, rs2492926235	RCV000211706 RCV003226046	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile amyotrophic lateral sclerosis	Pathogenic	rs1844420892	RCV001095431	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 62	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERLIN1-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASE	—	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	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ 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
SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	29453415		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	29453415	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive spastic paraplegia type 62	Spastic Paraplegia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35412433	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	28120895		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28120895		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	28120895	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28120895		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	23477746		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	BEFREE	29453415		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	Pubtator	29453415	Associate	★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	29453415	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	31874412	Associate	★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	23477746		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	29596435	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE	Spastic Paraplegia	GENOMICS_ENGLAND_DG	24482476		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE	Spastic Paraplegia	ORPHANET_DG	24482476		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE	Spastic Paraplegia	UNIPROT_DG	24482476		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	29453415	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	GENOMICS_ENGLAND_DG	24482476		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	30135210, 31636353		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Steatohepatitis	Fatty Liver	BEFREE	23477746		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	20198315		★☆☆☆☆ Found in Text Mining only