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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4281
Gene name	Midline 1
Gene symbol	MID1
Synonyms (NCBI Gene)	BBBG1FXYGBBBGBBB1MIDINOGS1OSOSXRNF59TRIM18XPRFZNFXY
Chromosome	X
Chromosome location	Xp22.2
Summary	The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the `RING-B box-coiled coil` (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28934611	A>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104894865	C>A,G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs104894866	A>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs138558359	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs138629923	G>A	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs147106995	G>A	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, genic downstream transcript variant, coding sequence variant
rs375668839	AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA	Benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs387906719	C>A	Pathogenic	Stop gained, coding sequence variant
rs398123341	T>C,G	Uncertain-significance, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs398123342	->G	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs398123343	T>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs745554420	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs786200982	->ATCA	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs797044786	->TTGT	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1555894390	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1555895704	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1555895725	C>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1555899082	C>T	Pathogenic	Intron variant
rs1556001856	G>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1556001968	C>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1556002004	CTGCGGAAAC>-	Pathogenic	Genic downstream transcript variant, intron variant, splice acceptor variant, coding sequence variant
rs1556003095	->CAAT	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1556003200	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1556004366	C>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1556004400	T>C	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1569265497	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569268013	->C	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569268029	CT>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569270016	A>G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569270035	ATC>-	Pathogenic	Coding sequence variant, inframe deletion, genic downstream transcript variant

285

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miRTarBase ID	miRNA	Experiments	Reference
MIRT031316	hsa-miR-18a-5p	Sequencing	20371350
MIRT045601	hsa-miR-149-5p	CLASH	23622248
MIRT038328	hsa-miR-130b-5p	CLASH	23622248
MIRT437876	hsa-miR-135b-5p	Luciferase reporter assayWestern blot	23623609
MIRT535941	hsa-miR-922	PAR-CLIP	22012620
MIRT535940	hsa-miR-4530	PAR-CLIP	22012620
MIRT535939	hsa-miR-338-3p	PAR-CLIP	22012620
MIRT535938	hsa-miR-766-3p	PAR-CLIP	22012620
MIRT535937	hsa-miR-627-3p	PAR-CLIP	22012620
MIRT535936	hsa-miR-4691-5p	PAR-CLIP	22012620
MIRT535935	hsa-miR-6792-3p	PAR-CLIP	22012620
MIRT535934	hsa-miR-6749-3p	PAR-CLIP	22012620
MIRT535933	hsa-miR-498	PAR-CLIP	22012620
MIRT535932	hsa-miR-670-3p	PAR-CLIP	22012620
MIRT535931	hsa-miR-1238-3p	PAR-CLIP	22012620
MIRT473272	hsa-miR-655-3p	PAR-CLIP	23592263
MIRT473271	hsa-miR-374c-5p	PAR-CLIP	23592263
MIRT473270	hsa-miR-4428	PAR-CLIP	23592263
MIRT473269	hsa-miR-216b-5p	PAR-CLIP	23592263
MIRT473268	hsa-miR-3125	PAR-CLIP	23592263
MIRT473267	hsa-miR-3916	PAR-CLIP	23592263
MIRT473266	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT473265	hsa-miR-300	PAR-CLIP	23592263
MIRT473264	hsa-miR-381-3p	PAR-CLIP	23592263
MIRT473263	hsa-miR-545-5p	PAR-CLIP	23592263
MIRT440242	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440242	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT535931	hsa-miR-1238-3p	PAR-CLIP	26701625
MIRT535931	hsa-miR-1238-3p	PAR-CLIP	26701625
MIRT535939	hsa-miR-338-3p	PAR-CLIP	26701625
MIRT535939	hsa-miR-338-3p	PAR-CLIP	26701625
MIRT535940	hsa-miR-4530	PAR-CLIP	26701625
MIRT535940	hsa-miR-4530	PAR-CLIP	26701625
MIRT535936	hsa-miR-4691-5p	PAR-CLIP	26701625
MIRT535936	hsa-miR-4691-5p	PAR-CLIP	26701625
MIRT535937	hsa-miR-627-3p	PAR-CLIP	26701625
MIRT535937	hsa-miR-627-3p	PAR-CLIP	26701625
MIRT535932	hsa-miR-670-3p	PAR-CLIP	26701625
MIRT535932	hsa-miR-670-3p	PAR-CLIP	26701625
MIRT535934	hsa-miR-6749-3p	PAR-CLIP	26701625
MIRT535934	hsa-miR-6749-3p	PAR-CLIP	26701625
MIRT535935	hsa-miR-6792-3p	PAR-CLIP	26701625
MIRT535935	hsa-miR-6792-3p	PAR-CLIP	26701625
MIRT535938	hsa-miR-766-3p	PAR-CLIP	26701625
MIRT535938	hsa-miR-766-3p	PAR-CLIP	26701625
MIRT535941	hsa-miR-922	PAR-CLIP	26701625
MIRT535941	hsa-miR-922	PAR-CLIP	26701625
MIRT535931	hsa-miR-1238-3p	PAR-CLIP	27292025
MIRT535931	hsa-miR-1238-3p	PAR-CLIP	27292025
MIRT535939	hsa-miR-338-3p	PAR-CLIP	27292025
MIRT535939	hsa-miR-338-3p	PAR-CLIP	27292025
MIRT535940	hsa-miR-4530	PAR-CLIP	27292025
MIRT535940	hsa-miR-4530	PAR-CLIP	27292025
MIRT535936	hsa-miR-4691-5p	PAR-CLIP	27292025
MIRT535936	hsa-miR-4691-5p	PAR-CLIP	27292025
MIRT535937	hsa-miR-627-3p	PAR-CLIP	27292025
MIRT535937	hsa-miR-627-3p	PAR-CLIP	27292025
MIRT535932	hsa-miR-670-3p	PAR-CLIP	27292025
MIRT535932	hsa-miR-670-3p	PAR-CLIP	27292025
MIRT535934	hsa-miR-6749-3p	PAR-CLIP	27292025
MIRT535934	hsa-miR-6749-3p	PAR-CLIP	27292025
MIRT535935	hsa-miR-6792-3p	PAR-CLIP	27292025
MIRT535935	hsa-miR-6792-3p	PAR-CLIP	27292025
MIRT535938	hsa-miR-766-3p	PAR-CLIP	27292025
MIRT535938	hsa-miR-766-3p	PAR-CLIP	27292025
MIRT535941	hsa-miR-922	PAR-CLIP	27292025
MIRT535941	hsa-miR-922	PAR-CLIP	27292025
MIRT535941	hsa-miR-922	PAR-CLIP	22012620
MIRT535940	hsa-miR-4530	PAR-CLIP	22012620
MIRT535939	hsa-miR-338-3p	PAR-CLIP	22012620
MIRT535938	hsa-miR-766-3p	PAR-CLIP	22012620
MIRT535937	hsa-miR-627-3p	PAR-CLIP	22012620
MIRT535936	hsa-miR-4691-5p	PAR-CLIP	22012620
MIRT535935	hsa-miR-6792-3p	PAR-CLIP	22012620
MIRT535934	hsa-miR-6749-3p	PAR-CLIP	22012620
MIRT535933	hsa-miR-498	PAR-CLIP	22012620
MIRT535932	hsa-miR-670-3p	PAR-CLIP	22012620
MIRT535931	hsa-miR-1238-3p	PAR-CLIP	22012620
MIRT473272	hsa-miR-655-3p	PAR-CLIP	23592263
MIRT473271	hsa-miR-374c-5p	PAR-CLIP	23592263
MIRT473270	hsa-miR-4428	PAR-CLIP	23592263
MIRT473269	hsa-miR-216b-5p	PAR-CLIP	23592263
MIRT473268	hsa-miR-3125	PAR-CLIP	23592263
MIRT473267	hsa-miR-3916	PAR-CLIP	23592263
MIRT473266	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT473265	hsa-miR-300	PAR-CLIP	23592263
MIRT473264	hsa-miR-381-3p	PAR-CLIP	23592263
MIRT473263	hsa-miR-545-5p	PAR-CLIP	23592263
MIRT437876	hsa-miR-135b-5p	MicroarrayqRT-PCR	35816043
MIRT1148461	hsa-miR-1275	CLIP-seq
MIRT1148462	hsa-miR-142-5p	CLIP-seq
MIRT1148463	hsa-miR-146a	CLIP-seq
MIRT1148464	hsa-miR-146b-5p	CLIP-seq
MIRT1148465	hsa-miR-224	CLIP-seq
MIRT1148466	hsa-miR-3074-3p	CLIP-seq
MIRT1148467	hsa-miR-3140-3p	CLIP-seq
MIRT1148468	hsa-miR-320a	CLIP-seq
MIRT1148469	hsa-miR-320b	CLIP-seq
MIRT1148470	hsa-miR-320c	CLIP-seq
MIRT1148471	hsa-miR-320d	CLIP-seq
MIRT1148472	hsa-miR-361-5p	CLIP-seq
MIRT1148473	hsa-miR-3616-5p	CLIP-seq
MIRT1148474	hsa-miR-3647-5p	CLIP-seq
MIRT1148475	hsa-miR-3688-3p	CLIP-seq
MIRT1148476	hsa-miR-3926	CLIP-seq
MIRT1148477	hsa-miR-3942-3p	CLIP-seq
MIRT1148478	hsa-miR-4429	CLIP-seq
MIRT1148479	hsa-miR-4525	CLIP-seq
MIRT1148480	hsa-miR-4665-5p	CLIP-seq
MIRT1148481	hsa-miR-4723-5p	CLIP-seq
MIRT1148482	hsa-miR-490-5p	CLIP-seq
MIRT1148483	hsa-miR-548a-5p	CLIP-seq
MIRT1148484	hsa-miR-548ab	CLIP-seq
MIRT1148485	hsa-miR-548ak	CLIP-seq
MIRT1148486	hsa-miR-548b-5p	CLIP-seq
MIRT1148487	hsa-miR-548c-5p	CLIP-seq
MIRT1148488	hsa-miR-548d-5p	CLIP-seq
MIRT1148489	hsa-miR-548h	CLIP-seq
MIRT1148490	hsa-miR-548i	CLIP-seq
MIRT1148491	hsa-miR-548j	CLIP-seq
MIRT1148492	hsa-miR-548k	CLIP-seq
MIRT1148493	hsa-miR-548l	CLIP-seq
MIRT1148494	hsa-miR-548s	CLIP-seq
MIRT1148495	hsa-miR-548w	CLIP-seq
MIRT1148496	hsa-miR-548y	CLIP-seq
MIRT1148497	hsa-miR-559	CLIP-seq
MIRT1148498	hsa-miR-573	CLIP-seq
MIRT1148499	hsa-miR-625	CLIP-seq
MIRT1148500	hsa-miR-939	CLIP-seq
MIRT1148501	hsa-miR-105	CLIP-seq
MIRT1148502	hsa-miR-124	CLIP-seq
MIRT1148503	hsa-miR-3143	CLIP-seq
MIRT1148504	hsa-miR-3591-3p	CLIP-seq
MIRT1148505	hsa-miR-3714	CLIP-seq
MIRT1148506	hsa-miR-3910	CLIP-seq
MIRT1148507	hsa-miR-505	CLIP-seq
MIRT1148508	hsa-miR-506	CLIP-seq
MIRT1148509	hsa-miR-595	CLIP-seq
MIRT2042240	hsa-miR-4328	CLIP-seq
MIRT2042241	hsa-miR-545	CLIP-seq
MIRT2271933	hsa-miR-3127-5p	CLIP-seq
MIRT2271934	hsa-miR-380	CLIP-seq
MIRT2271935	hsa-miR-4495	CLIP-seq
MIRT2271936	hsa-miR-548c-3p	CLIP-seq
MIRT2570822	hsa-miR-106a	CLIP-seq
MIRT2570823	hsa-miR-106b	CLIP-seq
MIRT2570824	hsa-miR-1238	CLIP-seq
MIRT2570825	hsa-miR-1253	CLIP-seq
MIRT2570826	hsa-miR-1271	CLIP-seq
MIRT2570827	hsa-miR-1321	CLIP-seq
MIRT2570828	hsa-miR-135a	CLIP-seq
MIRT2570829	hsa-miR-135b	CLIP-seq
MIRT2570830	hsa-miR-17	CLIP-seq
MIRT2570831	hsa-miR-1827	CLIP-seq
MIRT2570832	hsa-miR-1915	CLIP-seq
MIRT2570833	hsa-miR-20a	CLIP-seq
MIRT2570834	hsa-miR-20b	CLIP-seq
MIRT2570835	hsa-miR-216a	CLIP-seq
MIRT2570836	hsa-miR-216b	CLIP-seq
MIRT2570837	hsa-miR-2682	CLIP-seq
MIRT2570838	hsa-miR-3065-5p	CLIP-seq
MIRT2570839	hsa-miR-3074-5p	CLIP-seq
MIRT2271933	hsa-miR-3127-5p	CLIP-seq
MIRT2570840	hsa-miR-3130-5p	CLIP-seq
MIRT1148467	hsa-miR-3140-3p	CLIP-seq
MIRT2570841	hsa-miR-3163	CLIP-seq
MIRT2570842	hsa-miR-3177-5p	CLIP-seq
MIRT2570843	hsa-miR-33a	CLIP-seq
MIRT2570844	hsa-miR-33b	CLIP-seq
MIRT2570845	hsa-miR-340	CLIP-seq
MIRT2570846	hsa-miR-34a	CLIP-seq
MIRT2570847	hsa-miR-34c-5p	CLIP-seq
MIRT2570848	hsa-miR-3612	CLIP-seq
MIRT2570849	hsa-miR-3613-5p	CLIP-seq
MIRT2570850	hsa-miR-3661	CLIP-seq
MIRT2570851	hsa-miR-3671	CLIP-seq
MIRT2570852	hsa-miR-3672	CLIP-seq
MIRT2570853	hsa-miR-3692	CLIP-seq
MIRT2570854	hsa-miR-3907	CLIP-seq
MIRT2570855	hsa-miR-3913-3p	CLIP-seq
MIRT2570856	hsa-miR-3919	CLIP-seq
MIRT2570857	hsa-miR-425	CLIP-seq
MIRT2570858	hsa-miR-4270	CLIP-seq
MIRT2570859	hsa-miR-4280	CLIP-seq
MIRT2570860	hsa-miR-4318	CLIP-seq
MIRT2042240	hsa-miR-4328	CLIP-seq
MIRT2570861	hsa-miR-4441	CLIP-seq
MIRT2570862	hsa-miR-4470	CLIP-seq
MIRT2570863	hsa-miR-4482	CLIP-seq
MIRT2570864	hsa-miR-449a	CLIP-seq
MIRT2570865	hsa-miR-449b	CLIP-seq
MIRT2570866	hsa-miR-449c	CLIP-seq
MIRT2570867	hsa-miR-4662a-5p	CLIP-seq
MIRT2570868	hsa-miR-4693-5p	CLIP-seq
MIRT2570869	hsa-miR-4694-3p	CLIP-seq
MIRT2570870	hsa-miR-4726-3p	CLIP-seq
MIRT2570871	hsa-miR-4733-5p	CLIP-seq
MIRT2570872	hsa-miR-4739	CLIP-seq
MIRT2570873	hsa-miR-4749-3p	CLIP-seq
MIRT2570874	hsa-miR-4753-3p	CLIP-seq
MIRT2570875	hsa-miR-4756-3p	CLIP-seq
MIRT2570876	hsa-miR-4756-5p	CLIP-seq
MIRT2570877	hsa-miR-4766-3p	CLIP-seq
MIRT2570878	hsa-miR-4769-3p	CLIP-seq
MIRT2570879	hsa-miR-4775	CLIP-seq
MIRT2570880	hsa-miR-4793-5p	CLIP-seq
MIRT2570881	hsa-miR-489	CLIP-seq
MIRT2570882	hsa-miR-491-3p	CLIP-seq
MIRT2570883	hsa-miR-494	CLIP-seq
MIRT2570884	hsa-miR-499-3p	CLIP-seq
MIRT2570885	hsa-miR-499a-3p	CLIP-seq
MIRT2570886	hsa-miR-501-3p	CLIP-seq
MIRT2570887	hsa-miR-502-3p	CLIP-seq
MIRT2570888	hsa-miR-510	CLIP-seq
MIRT2570889	hsa-miR-512-5p	CLIP-seq
MIRT2570890	hsa-miR-514	CLIP-seq
MIRT2570891	hsa-miR-514b-3p	CLIP-seq
MIRT2570892	hsa-miR-519a	CLIP-seq
MIRT2570893	hsa-miR-519b-3p	CLIP-seq
MIRT2570894	hsa-miR-519c-3p	CLIP-seq
MIRT2570895	hsa-miR-519d	CLIP-seq
MIRT2570896	hsa-miR-520d-5p	CLIP-seq
MIRT2570897	hsa-miR-520g	CLIP-seq
MIRT2570898	hsa-miR-520h	CLIP-seq
MIRT2570899	hsa-miR-522	CLIP-seq
MIRT2570900	hsa-miR-524-5p	CLIP-seq
MIRT2570901	hsa-miR-548ac	CLIP-seq
MIRT2570902	hsa-miR-548ae	CLIP-seq
MIRT2570903	hsa-miR-548aj	CLIP-seq
MIRT2570904	hsa-miR-548am	CLIP-seq
MIRT2271936	hsa-miR-548c-3p	CLIP-seq
MIRT2570905	hsa-miR-548d-3p	CLIP-seq
MIRT2570906	hsa-miR-548x	CLIP-seq
MIRT2570907	hsa-miR-548z	CLIP-seq
MIRT2570908	hsa-miR-563	CLIP-seq
MIRT2570909	hsa-miR-607	CLIP-seq
MIRT2570910	hsa-miR-617	CLIP-seq
MIRT2570911	hsa-miR-631	CLIP-seq
MIRT2570912	hsa-miR-650	CLIP-seq
MIRT2570913	hsa-miR-659	CLIP-seq
MIRT2570914	hsa-miR-767-5p	CLIP-seq
MIRT2570915	hsa-miR-892a	CLIP-seq
MIRT2570916	hsa-miR-93	CLIP-seq
MIRT2570917	hsa-miR-96	CLIP-seq
MIRT2570824	hsa-miR-1238	CLIP-seq
MIRT2570826	hsa-miR-1271	CLIP-seq
MIRT2570835	hsa-miR-216a	CLIP-seq
MIRT2570836	hsa-miR-216b	CLIP-seq
MIRT2570838	hsa-miR-3065-5p	CLIP-seq
MIRT1148467	hsa-miR-3140-3p	CLIP-seq
MIRT2570841	hsa-miR-3163	CLIP-seq
MIRT2570843	hsa-miR-33a	CLIP-seq
MIRT2570844	hsa-miR-33b	CLIP-seq
MIRT2570845	hsa-miR-340	CLIP-seq
MIRT2570846	hsa-miR-34a	CLIP-seq
MIRT2570847	hsa-miR-34c-5p	CLIP-seq
MIRT2570849	hsa-miR-3613-5p	CLIP-seq
MIRT2570850	hsa-miR-3661	CLIP-seq
MIRT2570851	hsa-miR-3671	CLIP-seq
MIRT2570852	hsa-miR-3672	CLIP-seq
MIRT2570853	hsa-miR-3692	CLIP-seq
MIRT2570854	hsa-miR-3907	CLIP-seq
MIRT2570855	hsa-miR-3913-3p	CLIP-seq
MIRT2570857	hsa-miR-425	CLIP-seq
MIRT2570864	hsa-miR-449a	CLIP-seq
MIRT2570865	hsa-miR-449b	CLIP-seq
MIRT2570867	hsa-miR-4662a-5p	CLIP-seq
MIRT2570873	hsa-miR-4749-3p	CLIP-seq
MIRT2570874	hsa-miR-4753-3p	CLIP-seq
MIRT2570878	hsa-miR-4769-3p	CLIP-seq
MIRT2570879	hsa-miR-4775	CLIP-seq
MIRT2570880	hsa-miR-4793-5p	CLIP-seq
MIRT2570881	hsa-miR-489	CLIP-seq
MIRT2570882	hsa-miR-491-3p	CLIP-seq
MIRT2570884	hsa-miR-499-3p	CLIP-seq
MIRT2570885	hsa-miR-499a-3p	CLIP-seq
MIRT2570886	hsa-miR-501-3p	CLIP-seq
MIRT2570887	hsa-miR-502-3p	CLIP-seq
MIRT2570890	hsa-miR-514	CLIP-seq
MIRT2570891	hsa-miR-514b-3p	CLIP-seq
MIRT2570909	hsa-miR-607	CLIP-seq
MIRT2570910	hsa-miR-617	CLIP-seq
MIRT2570911	hsa-miR-631	CLIP-seq
MIRT2570914	hsa-miR-767-5p	CLIP-seq
MIRT2570917	hsa-miR-96	CLIP-seq

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Transcription factor	Regulation	Reference
AR	Unknown	24913494

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	TAS	10077590
GO:0005515	Function	Protein binding	IPI	19549727, 21516116, 25416956, 25910212, 26496610, 31515488, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IDA	11806752
GO:0005874	Component	Microtubule	IEA
GO:0005875	Component	Microtubule associated complex	TAS	10077590
GO:0005881	Component	Cytoplasmic microtubule	IDA	18949047
GO:0007026	Process	Negative regulation of microtubule depolymerization	IEA
GO:0007389	Process	Pattern specification process	TAS	9354791
GO:0008017	Function	Microtubule binding	IEA
GO:0008017	Function	Microtubule binding	IMP	11806752
GO:0008270	Function	Zinc ion binding	IEA
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019899	Function	Enzyme binding	IEA
GO:0019899	Function	Enzyme binding	IPI	11806752
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	17438131
GO:0032874	Process	Positive regulation of stress-activated MAPK cascade	IMP	17438131
GO:0034451	Component	Centriolar satellite	IDA
GO:0035372	Process	Protein localization to microtubule	IEA
GO:0035372	Process	Protein localization to microtubule	IMP	11806752
GO:0042802	Function	Identical protein binding	IPI	22493164, 22829933, 25416956, 32296183
GO:0042803	Function	Protein homodimerization activity	IDA	11806752
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051219	Function	Phosphoprotein binding	IEA
GO:0051219	Function	Phosphoprotein binding	IPI	11806752
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0070507	Process	Regulation of microtubule cytoskeleton organization	IBA
GO:1902533	Process	Positive regulation of intracellular signal transduction	IEA

MIM	HGNC	e!Ensembl
300552	7095	ENSG00000101871

O15344

Protein name

E3 ubiquitin-protein ligase Midline-1 (EC 2.3.2.27) (Midin) (Putative transcription factor XPRF) (RING finger protein 59) (RING finger protein Midline-1) (RING-type E3 ubiquitin transferase Midline-1) (Tripartite motif-containing protein 18)

Protein function

Has E3 ubiquitin ligase activity towards IGBP1, promoting its monoubiquitination, which results in deprotection of the catalytic subunit of protein phosphatase PP2A, and its subsequent degradation by polyubiquitination. {ECO:0000269|PubMed:10400

PDB

2DQ5 , 2FFW , 2JUN , 5IM8 , 7QRY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13445	zf-RING_UBOX	10 → 57	RING-type zinc-finger	Domain
PF00643	zf-B_box	171 → 212	B-box zinc finger	Domain
PF18568	COS	323 → 374	TRIM C-terminal subgroup One Signature domain	Domain
PF00041	fn3	380 → 475	Fibronectin type III domain	Domain
PF13765	PRY	486 → 527	SPRY-associated domain	Family
PF00622	SPRY	540 → 655	SPRY domain	Family

Tissue specificity

TISSUE SPECIFICITY: In the fetus, highest expression found in kidney, followed by brain and lung. Expressed at low levels in fetal liver. In the adult, most abundant in heart, placenta and brain.

Sequence

METLESELTCPICLELFEDPLLLPCAHSLCFNCAHRILVSHCATNESVESITAFQCPTCR
HVITLSQRGLDGLKRNVTLQNIIDRFQKASVSGPNSPSETRRERAFDANTMTSAEKVLCQ
FCDQDPAQDAVKTCVTCEVSYCDECLKATHPNKKPFTGHRLIEPIPDSHIRGLMCLEHED
EKVNMYCVTDDQLICALCKLVGRHRDHQVAALSERYDKLKQNLESNLTNLIKRNTELETL
LAKLIQTCQHVEVNASRQEAKLTEECDLLIEIIQQRRQIIGTKIKEGKVMRLRKLAQQIA
NCKQCIERSASLISQAEHSLKENDHARFLQTAKNITERVSMATASSQVLIPEINLNDTFD
TFALDFSREKKLLECLDYLTAPNPPTIREELCTASYDTITVHWTSDDEFSVVSYELQYTI
FTGQANVVSLCNSADSWMIVPNIKQNHYTVHGLQSGTKYIFMVKAINQAGSRSSEPGKLK
TNSQPFKLDPKSAHRKLKVSHDNLTVERDESSSKKSHTPERFTSQGSYGVAGNVFIDSGR
HYWEVVISGSTWYAIGLAYKSAPKHEWIGKNSASWALCRCNNNWVVRHNSKEIPIEPAPH
LRRVGILLDYDNGSIAFYDALNSIHLYTFDVAFAQPVCPTFTVWNKCLTIITGLPIPDHL
DCTEQLP

Sequence length

667

Interactions

View interactions

	KEGG		Reactome
	Ubiquitin mediated proteolysis		Interferon gamma signaling

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

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Dandy-Walker syndrome	Pathogenic	rs1555895704	RCV001263107	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MID1-related disorder	Likely pathogenic	rs2518968860, rs2518959444	RCV003391629 RCV004731559	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs2519201544	RCV005931567	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked Opitz G/BBB syndrome	Likely pathogenic; Pathogenic	rs2147252384, rs2147252300, rs1555895725, rs2147266860, rs2147299486, rs2147369813, rs2147287460, rs398123342, rs1569270035, rs1569268013, rs28934611, rs104894865, rs104894866, rs1569268029, rs2518960109 View all (14 more)	RCV001530195 RCV001730030 RCV001733877 RCV001808045 RCV001843827 View all (27 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Abnormal facial shape	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clinodactyly of the 5th finger	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL ANOMALY OF ESOPHAGUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corpus callosum, agenesis of	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertelorism	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Low-set ears	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

MID1 (midline 1)