EPB41L1 (erythrocyte membrane protein band 4.1 like 1)

Gene

• Entrez ID: 2036
• Gene name: Erythrocyte membrane protein band 4.1 like 1
• Gene symbol: EPB41L1
• Synonyms (NCBI Gene): 4.1N, MRD11
• Chromosome: 20
• Chromosome location: 20q11.23
• Summary: Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neur

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1060499773	C>T	Likely-pathogenic	Intron variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022061	hsa-miR-128-3p	Microarray	17612493
MIRT036447	hsa-miR-1226-3p	CLASH	23622248
MIRT703944	hsa-miR-4740-3p	HITS-CLIP	23313552
MIRT703943	hsa-miR-4258	HITS-CLIP	23313552
MIRT703942	hsa-miR-7108-3p	HITS-CLIP	23313552
MIRT703941	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT703940	hsa-miR-4713-5p	HITS-CLIP	23313552
MIRT703939	hsa-miR-6867-3p	HITS-CLIP	23313552
MIRT703938	hsa-miR-498	HITS-CLIP	23313552
MIRT703937	hsa-miR-629-3p	HITS-CLIP	23313552
MIRT658596	hsa-miR-9-3p	HITS-CLIP	23824327
MIRT572469	hsa-miR-4286	PAR-CLIP	20371350
MIRT572468	hsa-miR-6887-3p	PAR-CLIP	20371350
MIRT537676	hsa-miR-590-3p	PAR-CLIP	22012620
MIRT537669	hsa-miR-411-5p	PAR-CLIP	22012620
MIRT537675	hsa-miR-4735-5p	PAR-CLIP	22012620
MIRT537674	hsa-miR-1273f	PAR-CLIP	22012620
MIRT537673	hsa-miR-3167	PAR-CLIP	22012620
MIRT537672	hsa-miR-876-5p	PAR-CLIP	22012620
MIRT537671	hsa-miR-6832-5p	PAR-CLIP	22012620
MIRT537670	hsa-miR-4775	PAR-CLIP	22012620
MIRT537669	hsa-miR-411-5p	PAR-CLIP	22012620
MIRT537668	hsa-miR-5089-5p	PAR-CLIP	22012620
MIRT537667	hsa-miR-3149	PAR-CLIP	22012620
MIRT537666	hsa-miR-129-5p	PAR-CLIP	22012620
MIRT493950	hsa-miR-4779	PAR-CLIP	23592263
MIRT493951	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT493949	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT493948	hsa-miR-4537	PAR-CLIP	23592263
MIRT493947	hsa-miR-4419a	PAR-CLIP	23592263
MIRT493946	hsa-miR-4510	PAR-CLIP	23592263
MIRT493945	hsa-miR-6127	PAR-CLIP	23592263
MIRT493944	hsa-miR-6129	PAR-CLIP	23592263
MIRT493943	hsa-miR-6130	PAR-CLIP	23592263
MIRT493942	hsa-miR-6133	PAR-CLIP	23592263
MIRT493941	hsa-miR-765	PAR-CLIP	23592263
MIRT493940	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT493939	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT493938	hsa-miR-6827-5p	PAR-CLIP	23592263
MIRT493937	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT493936	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT703944	hsa-miR-4740-3p	HITS-CLIP	23313552
MIRT703943	hsa-miR-4258	HITS-CLIP	23313552
MIRT703942	hsa-miR-7108-3p	HITS-CLIP	23313552
MIRT703941	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT703940	hsa-miR-4713-5p	HITS-CLIP	23313552
MIRT703939	hsa-miR-6867-3p	HITS-CLIP	23313552
MIRT703938	hsa-miR-498	HITS-CLIP	23313552
MIRT703937	hsa-miR-629-3p	HITS-CLIP	23313552
MIRT658596	hsa-miR-9-3p	HITS-CLIP	23824327
MIRT572469	hsa-miR-4286	PAR-CLIP	20371350
MIRT572468	hsa-miR-6887-3p	PAR-CLIP	20371350
MIRT537676	hsa-miR-590-3p	PAR-CLIP	22012620
MIRT537669	hsa-miR-411-5p	PAR-CLIP	22012620
MIRT537675	hsa-miR-4735-5p	PAR-CLIP	22012620
MIRT537674	hsa-miR-1273f	PAR-CLIP	22012620
MIRT537673	hsa-miR-3167	PAR-CLIP	22012620
MIRT537672	hsa-miR-876-5p	PAR-CLIP	22012620
MIRT537671	hsa-miR-6832-5p	PAR-CLIP	22012620
MIRT537670	hsa-miR-4775	PAR-CLIP	22012620
MIRT537669	hsa-miR-411-5p	PAR-CLIP	22012620
MIRT537668	hsa-miR-5089-5p	PAR-CLIP	22012620
MIRT537667	hsa-miR-3149	PAR-CLIP	22012620
MIRT537666	hsa-miR-129-5p	PAR-CLIP	22012620
MIRT493950	hsa-miR-4779	PAR-CLIP	23592263
MIRT493951	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT493949	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT493948	hsa-miR-4537	PAR-CLIP	23592263
MIRT493947	hsa-miR-4419a	PAR-CLIP	23592263
MIRT493946	hsa-miR-4510	PAR-CLIP	23592263
MIRT493945	hsa-miR-6127	PAR-CLIP	23592263
MIRT493944	hsa-miR-6129	PAR-CLIP	23592263
MIRT493943	hsa-miR-6130	PAR-CLIP	23592263
MIRT493942	hsa-miR-6133	PAR-CLIP	23592263
MIRT493941	hsa-miR-765	PAR-CLIP	23592263
MIRT493940	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT493939	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT493938	hsa-miR-6827-5p	PAR-CLIP	23592263
MIRT493937	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT493936	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT965487	hsa-miR-1208	CLIP-seq
MIRT965488	hsa-miR-1321	CLIP-seq
MIRT965489	hsa-miR-2467-3p	CLIP-seq
MIRT965490	hsa-miR-3074-5p	CLIP-seq
MIRT965491	hsa-miR-3135b	CLIP-seq
MIRT965492	hsa-miR-3136-5p	CLIP-seq
MIRT965493	hsa-miR-3678-3p	CLIP-seq
MIRT965494	hsa-miR-4439	CLIP-seq
MIRT965495	hsa-miR-4487	CLIP-seq
MIRT965496	hsa-miR-4513	CLIP-seq
MIRT965497	hsa-miR-452	CLIP-seq
MIRT965498	hsa-miR-4676-3p	CLIP-seq
MIRT965499	hsa-miR-4739	CLIP-seq
MIRT965500	hsa-miR-4756-5p	CLIP-seq
MIRT965501	hsa-miR-491-3p	CLIP-seq
MIRT965502	hsa-miR-515-5p	CLIP-seq
MIRT965503	hsa-miR-556-5p	CLIP-seq
MIRT965504	hsa-miR-634	CLIP-seq
MIRT965505	hsa-miR-889	CLIP-seq
MIRT965506	hsa-miR-1	CLIP-seq
MIRT965507	hsa-miR-1197	CLIP-seq
MIRT965508	hsa-miR-1207-5p	CLIP-seq
MIRT965509	hsa-miR-1224-3p	CLIP-seq
MIRT965510	hsa-miR-1231	CLIP-seq
MIRT965511	hsa-miR-1245b-3p	CLIP-seq
MIRT965512	hsa-miR-1253	CLIP-seq
MIRT965513	hsa-miR-1260	CLIP-seq
MIRT965514	hsa-miR-1260b	CLIP-seq
MIRT965515	hsa-miR-1261	CLIP-seq
MIRT965516	hsa-miR-1275	CLIP-seq
MIRT965517	hsa-miR-1280	CLIP-seq
MIRT965518	hsa-miR-1283	CLIP-seq
MIRT965519	hsa-miR-1301	CLIP-seq
MIRT965488	hsa-miR-1321	CLIP-seq
MIRT965520	hsa-miR-185	CLIP-seq
MIRT965521	hsa-miR-1908	CLIP-seq
MIRT965522	hsa-miR-199a-5p	CLIP-seq
MIRT965523	hsa-miR-199b-5p	CLIP-seq
MIRT965524	hsa-miR-204	CLIP-seq
MIRT965525	hsa-miR-2054	CLIP-seq
MIRT965526	hsa-miR-206	CLIP-seq
MIRT965527	hsa-miR-211	CLIP-seq
MIRT965528	hsa-miR-2276	CLIP-seq
MIRT965489	hsa-miR-2467-3p	CLIP-seq
MIRT965529	hsa-miR-29a	CLIP-seq
MIRT965530	hsa-miR-29b	CLIP-seq
MIRT965531	hsa-miR-29c	CLIP-seq
MIRT965532	hsa-miR-300	CLIP-seq
MIRT965533	hsa-miR-3125	CLIP-seq
MIRT965534	hsa-miR-3126-5p	CLIP-seq
MIRT965491	hsa-miR-3135b	CLIP-seq
MIRT965492	hsa-miR-3136-5p	CLIP-seq
MIRT965535	hsa-miR-3141	CLIP-seq
MIRT965536	hsa-miR-3151	CLIP-seq
MIRT965537	hsa-miR-3153	CLIP-seq
MIRT965538	hsa-miR-3162-5p	CLIP-seq
MIRT965539	hsa-miR-3179	CLIP-seq
MIRT965540	hsa-miR-3185	CLIP-seq
MIRT965541	hsa-miR-3190	CLIP-seq
MIRT965542	hsa-miR-3201	CLIP-seq
MIRT965543	hsa-miR-3202	CLIP-seq
MIRT965544	hsa-miR-330-3p	CLIP-seq
MIRT965545	hsa-miR-342-5p	CLIP-seq
MIRT965546	hsa-miR-346	CLIP-seq
MIRT965547	hsa-miR-3613-3p	CLIP-seq
MIRT965548	hsa-miR-3663-3p	CLIP-seq
MIRT965549	hsa-miR-3673	CLIP-seq
MIRT965493	hsa-miR-3678-3p	CLIP-seq
MIRT965550	hsa-miR-3678-5p	CLIP-seq
MIRT965551	hsa-miR-3688-5p	CLIP-seq
MIRT965552	hsa-miR-380	CLIP-seq
MIRT965553	hsa-miR-381	CLIP-seq
MIRT965554	hsa-miR-3916	CLIP-seq
MIRT965555	hsa-miR-3936	CLIP-seq
MIRT965556	hsa-miR-3942-3p	CLIP-seq
MIRT965557	hsa-miR-4251	CLIP-seq
MIRT965558	hsa-miR-4270	CLIP-seq
MIRT965559	hsa-miR-4277	CLIP-seq
MIRT965560	hsa-miR-4287	CLIP-seq
MIRT965561	hsa-miR-4288	CLIP-seq
MIRT965562	hsa-miR-4306	CLIP-seq
MIRT965563	hsa-miR-4324	CLIP-seq
MIRT965564	hsa-miR-4436a	CLIP-seq
MIRT965565	hsa-miR-4436b-3p	CLIP-seq
MIRT965494	hsa-miR-4439	CLIP-seq
MIRT965566	hsa-miR-4441	CLIP-seq
MIRT965567	hsa-miR-4447	CLIP-seq
MIRT965568	hsa-miR-4455	CLIP-seq
MIRT965569	hsa-miR-4461	CLIP-seq
MIRT965570	hsa-miR-4464	CLIP-seq
MIRT965571	hsa-miR-4470	CLIP-seq
MIRT965572	hsa-miR-4472	CLIP-seq
MIRT965573	hsa-miR-4476	CLIP-seq
MIRT965574	hsa-miR-4477a	CLIP-seq
MIRT965495	hsa-miR-4487	CLIP-seq
MIRT965575	hsa-miR-4495	CLIP-seq
MIRT965576	hsa-miR-450b-5p	CLIP-seq
MIRT965496	hsa-miR-4513	CLIP-seq
MIRT965577	hsa-miR-4525	CLIP-seq
MIRT965578	hsa-miR-4644	CLIP-seq
MIRT965579	hsa-miR-4651	CLIP-seq
MIRT965580	hsa-miR-4653-3p	CLIP-seq
MIRT965581	hsa-miR-4664-5p	CLIP-seq
MIRT965582	hsa-miR-4665-5p	CLIP-seq
MIRT965583	hsa-miR-4666-3p	CLIP-seq
MIRT965584	hsa-miR-4668-3p	CLIP-seq
MIRT965585	hsa-miR-4685-3p	CLIP-seq
MIRT965586	hsa-miR-4685-5p	CLIP-seq
MIRT965587	hsa-miR-4690-3p	CLIP-seq
MIRT965588	hsa-miR-4700-3p	CLIP-seq
MIRT965589	hsa-miR-4723-5p	CLIP-seq
MIRT965590	hsa-miR-4728-5p	CLIP-seq
MIRT965591	hsa-miR-4730	CLIP-seq
MIRT965499	hsa-miR-4739	CLIP-seq
MIRT965592	hsa-miR-4747-5p	CLIP-seq
MIRT965593	hsa-miR-4748	CLIP-seq
MIRT965594	hsa-miR-4752	CLIP-seq
MIRT965500	hsa-miR-4756-5p	CLIP-seq
MIRT965595	hsa-miR-4759	CLIP-seq
MIRT965596	hsa-miR-4763-3p	CLIP-seq
MIRT965597	hsa-miR-4772-3p	CLIP-seq
MIRT965598	hsa-miR-4773	CLIP-seq
MIRT965599	hsa-miR-4791	CLIP-seq
MIRT965600	hsa-miR-4792	CLIP-seq
MIRT965601	hsa-miR-4795-3p	CLIP-seq
MIRT965602	hsa-miR-4802-5p	CLIP-seq
MIRT965603	hsa-miR-486-3p	CLIP-seq
MIRT965501	hsa-miR-491-3p	CLIP-seq
MIRT965604	hsa-miR-491-5p	CLIP-seq
MIRT965605	hsa-miR-496	CLIP-seq
MIRT965606	hsa-miR-5047	CLIP-seq
MIRT965607	hsa-miR-507	CLIP-seq
MIRT965502	hsa-miR-515-5p	CLIP-seq
MIRT965608	hsa-miR-518a-5p	CLIP-seq
MIRT965609	hsa-miR-527	CLIP-seq
MIRT965610	hsa-miR-548aa	CLIP-seq
MIRT965611	hsa-miR-548c-3p	CLIP-seq
MIRT965612	hsa-miR-556-3p	CLIP-seq
MIRT965503	hsa-miR-556-5p	CLIP-seq
MIRT965613	hsa-miR-557	CLIP-seq
MIRT965614	hsa-miR-570	CLIP-seq
MIRT965615	hsa-miR-571	CLIP-seq
MIRT965616	hsa-miR-605	CLIP-seq
MIRT965617	hsa-miR-608	CLIP-seq
MIRT965618	hsa-miR-613	CLIP-seq
MIRT965619	hsa-miR-615-5p	CLIP-seq
MIRT965620	hsa-miR-625	CLIP-seq
MIRT965621	hsa-miR-632	CLIP-seq
MIRT965622	hsa-miR-663	CLIP-seq
MIRT965623	hsa-miR-939	CLIP-seq
MIRT965624	hsa-miR-943	CLIP-seq
MIRT965508	hsa-miR-1207-5p	CLIP-seq
MIRT965558	hsa-miR-4270	CLIP-seq
MIRT1986075	hsa-miR-4428	CLIP-seq
MIRT1986076	hsa-miR-4434	CLIP-seq
MIRT965566	hsa-miR-4441	CLIP-seq
MIRT965576	hsa-miR-450b-5p	CLIP-seq
MIRT1986077	hsa-miR-4516	CLIP-seq
MIRT1986078	hsa-miR-4755-5p	CLIP-seq
MIRT965596	hsa-miR-4763-3p	CLIP-seq
MIRT965603	hsa-miR-486-3p	CLIP-seq
MIRT965607	hsa-miR-507	CLIP-seq
MIRT1986079	hsa-miR-539	CLIP-seq
MIRT965613	hsa-miR-557	CLIP-seq
MIRT965506	hsa-miR-1	CLIP-seq
MIRT1986080	hsa-miR-1972	CLIP-seq
MIRT965526	hsa-miR-206	CLIP-seq
MIRT965490	hsa-miR-3074-5p	CLIP-seq
MIRT1986081	hsa-miR-3120-3p	CLIP-seq
MIRT965546	hsa-miR-346	CLIP-seq
MIRT965549	hsa-miR-3673	CLIP-seq
MIRT965567	hsa-miR-4447	CLIP-seq
MIRT965572	hsa-miR-4472	CLIP-seq
MIRT965589	hsa-miR-4723-5p	CLIP-seq
MIRT965608	hsa-miR-518a-5p	CLIP-seq
MIRT965609	hsa-miR-527	CLIP-seq
MIRT965618	hsa-miR-613	CLIP-seq
MIRT2220510	hsa-miR-15a	CLIP-seq
MIRT2220511	hsa-miR-15b	CLIP-seq
MIRT2220512	hsa-miR-16	CLIP-seq
MIRT2220513	hsa-miR-195	CLIP-seq
MIRT1986080	hsa-miR-1972	CLIP-seq
MIRT2220514	hsa-miR-424	CLIP-seq
MIRT965564	hsa-miR-4436a	CLIP-seq
MIRT2220515	hsa-miR-4650-5p	CLIP-seq
MIRT2220516	hsa-miR-497	CLIP-seq
MIRT1986079	hsa-miR-539	CLIP-seq
MIRT2448896	hsa-miR-1207-3p	CLIP-seq
MIRT965532	hsa-miR-300	CLIP-seq
MIRT965553	hsa-miR-381	CLIP-seq
MIRT2448897	hsa-miR-4302	CLIP-seq
MIRT965583	hsa-miR-4666-3p	CLIP-seq
MIRT2448898	hsa-miR-4697-3p	CLIP-seq
MIRT965598	hsa-miR-4773	CLIP-seq
MIRT2524276	hsa-miR-105	CLIP-seq
MIRT965511	hsa-miR-1245b-3p	CLIP-seq
MIRT965488	hsa-miR-1321	CLIP-seq
MIRT2524277	hsa-miR-146b-3p	CLIP-seq
MIRT2524278	hsa-miR-1913	CLIP-seq
MIRT965489	hsa-miR-2467-3p	CLIP-seq
MIRT965490	hsa-miR-3074-5p	CLIP-seq
MIRT965491	hsa-miR-3135b	CLIP-seq
MIRT2524279	hsa-miR-3148	CLIP-seq
MIRT2524280	hsa-miR-3150a-3p	CLIP-seq
MIRT2524281	hsa-miR-3154	CLIP-seq
MIRT2524282	hsa-miR-3173-5p	CLIP-seq
MIRT2524283	hsa-miR-3175	CLIP-seq
MIRT2524284	hsa-miR-324-3p	CLIP-seq
MIRT2524285	hsa-miR-324-5p	CLIP-seq
MIRT2524286	hsa-miR-3646	CLIP-seq
MIRT2524287	hsa-miR-3662	CLIP-seq
MIRT965493	hsa-miR-3678-3p	CLIP-seq
MIRT2524288	hsa-miR-3688-3p	CLIP-seq
MIRT2524289	hsa-miR-378g	CLIP-seq
MIRT2524290	hsa-miR-3919	CLIP-seq
MIRT2524291	hsa-miR-3920	CLIP-seq
MIRT2524292	hsa-miR-4252	CLIP-seq
MIRT2524293	hsa-miR-4292	CLIP-seq
MIRT2524294	hsa-miR-4308	CLIP-seq
MIRT2524295	hsa-miR-4330	CLIP-seq
MIRT2524296	hsa-miR-4475	CLIP-seq
MIRT2524297	hsa-miR-4481	CLIP-seq
MIRT965495	hsa-miR-4487	CLIP-seq
MIRT2524298	hsa-miR-4488	CLIP-seq
MIRT2524299	hsa-miR-4539	CLIP-seq
MIRT2524300	hsa-miR-4693-3p	CLIP-seq
MIRT2524301	hsa-miR-4697-5p	CLIP-seq
MIRT2524302	hsa-miR-4722-3p	CLIP-seq
MIRT965499	hsa-miR-4739	CLIP-seq
MIRT2524303	hsa-miR-4745-5p	CLIP-seq
MIRT965500	hsa-miR-4756-5p	CLIP-seq
MIRT2524304	hsa-miR-4762-3p	CLIP-seq
MIRT2524305	hsa-miR-4778-5p	CLIP-seq
MIRT2524306	hsa-miR-486-5p	CLIP-seq
MIRT2524307	hsa-miR-490-3p	CLIP-seq
MIRT965501	hsa-miR-491-3p	CLIP-seq
MIRT965604	hsa-miR-491-5p	CLIP-seq
MIRT965502	hsa-miR-515-5p	CLIP-seq
MIRT2524308	hsa-miR-520a-5p	CLIP-seq
MIRT2524309	hsa-miR-525-5p	CLIP-seq
MIRT965614	hsa-miR-570	CLIP-seq
MIRT2524310	hsa-miR-637	CLIP-seq
MIRT2524311	hsa-miR-649	CLIP-seq
MIRT2524312	hsa-miR-661	CLIP-seq
MIRT2524313	hsa-miR-874	CLIP-seq
MIRT965623	hsa-miR-939	CLIP-seq
MIRT2680141	hsa-miR-1193	CLIP-seq
MIRT2680142	hsa-miR-1255a	CLIP-seq
MIRT2680143	hsa-miR-1255b	CLIP-seq
MIRT965488	hsa-miR-1321	CLIP-seq
MIRT2680144	hsa-miR-2355-5p	CLIP-seq
MIRT2680145	hsa-miR-3136-3p	CLIP-seq
MIRT2524281	hsa-miR-3154	CLIP-seq
MIRT2680146	hsa-miR-3605-3p	CLIP-seq
MIRT2680147	hsa-miR-3605-5p	CLIP-seq
MIRT965547	hsa-miR-3613-3p	CLIP-seq
MIRT2680148	hsa-miR-3679-3p	CLIP-seq
MIRT2680149	hsa-miR-4311	CLIP-seq
MIRT2680150	hsa-miR-4456	CLIP-seq
MIRT2524296	hsa-miR-4475	CLIP-seq
MIRT965499	hsa-miR-4739	CLIP-seq
MIRT965500	hsa-miR-4756-5p	CLIP-seq
MIRT2680151	hsa-miR-4763-5p	CLIP-seq
MIRT2524307	hsa-miR-490-3p	CLIP-seq
MIRT1986079	hsa-miR-539	CLIP-seq
MIRT2524311	hsa-miR-649	CLIP-seq
MIRT2680152	hsa-miR-663b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005198	Function	Structural molecule activity	IEA
GO:0005515	Function	Protein binding	IPI	21044950
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IBA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0008092	Function	Cytoskeletal protein binding	IEA
GO:0030866	Process	Cortical actin cytoskeleton organization	IEA
GO:0031032	Process	Actomyosin structure organization	IBA

Other IDs

• MIM: 602879
• HGNC: 3378
• e!Ensembl: ENSG00000088367

Protein

• UniProt ID: Q9H4G0
• Protein name: Band 4.1-like protein 1 (Erythrocyte membrane protein band 4.1-like 1) (Neuronal protein 4.1) (4.1N)
• Protein function: May function to confer stability and plasticity to neuronal membrane via multiple interactions, including the spectrin-actin-based cytoskeleton, integral membrane channels and membrane-associated guanylate kinases.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09379	FERM_N	101 → 164	FERM N-terminal domain	Domain
  PF00373	FERM_M	179 → 288	FERM central domain	Domain
  PF09380	FERM_C	292 → 382	FERM C-terminal PH-like domain	Domain
  PF08736	FA	385 → 428	FERM adjacent (FA)	Family
  PF04382	SAB	493 → 544	SAB domain	Domain
  PF05902	4_1_CTD	743 → 868	4.1 protein C-terminal domain (CTD)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highest expression in brain, lower in heart, kidney, pancreas, placenta, lung and skeletal muscle.
• Sequence:

  MTTETGPDSEVKKAQEEAPQQPEAAAAVTTPVTPAGHGHPEANSNEKHPSQQDTRPAEQS
  LDMEEKDYSEADGLSERTTPSKAQKSPQKIAKKYKSAICRVTLLDASEYECEVEKHGRGQ
  VLFDLVCEHLNLLEKDYFGLTFCDADSQKNWLDPSKEIKKQIRSSPWNFAFTVKFYPPDP
  AQLTEDITRYYLCLQLRADIITGRLPCSFVTHALLGSYAVQAELGDYDAEEHVGNYVSEL
  RFAPNQTRELEERIMELHKTYRGMTPGEAEIHFLENAKKLSMYGVDLHHAKDSEGIDIML
  GVCANGLLIYRDRLRINRFAWPKILKISYKRSNFYIKIRPGEYEQFESTIGFKLPNHRSA
  KRLWKVCIEHHTFFRLVSPEPPPKGFLVMGSKFRYSGRTQAQTRQASALIDRPAPFFERS
  SSKRYTMSRSLDGAEFSRPASVSENHDAGPDGDKRDEDGESGGQRSEAEEGEVRTPTKIK
  ELKPEQETTPRHKQEFLDKPEDVLLKHQASINELKRTLKEPNSKLIHRDRDWERERRLPS
  SPASPSPKGTPEKANERAGLREGSEEKVKPPRPRAPESDTGDEDQDQERDTVFLKDNHLA
  IERKCSSITVSSTSSLEAEVDFTVIGDYHGSAFEDFSRSLPELDRDKSDSDTEGLLFSRD
  LNKGAPSQDDESGGIEDSPDRGACSTPDMPQFEPVKTETMTVSSLAIRKKIEPEAVLQTR
  VSAMDNTQQVDGSASVGREFIATTPSITTETISTTMENSLKSGKGAAAMIPGPQTVATEI
  RSLSPIIGKDVLTSTYGATAETLSTSTTTHVTKTVKGGFSETRIEKRIIITGDEDVDQDQ
  ALALAIKEAKLQHPDMLVTKAVVYRETDPSPEERDKKPQES

• Sequence length: 881

Pathways

Reactome:

Trafficking of AMPA receptors
Neurexins and neuroligins

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
Abnormal brain morphology	Likely pathogenic	rs1060499773	RCV000454281	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMOSOME 20Q11-Q12 DELETION SYNDROME	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complex neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar ClinGen, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CUTANEOUS SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPB41L1-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 11	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability, autosomal dominant 11	Uncertain significance; Conflicting classifications of pathogenicity; no classifications from unflagged records	ClinVar ClinVar, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
KERATINOCYTE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ 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

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autosomal dominant non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	38167429	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	21376300		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL DOMINANT 11	Mental retardation	UNIPROT_DG	21376300		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 11	Mental retardation	GENOMICS_ENGLAND_DG	25572454		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 11	Mental retardation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20860828	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19165527		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only