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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9790
Gene name Gene Name - the full gene name approved by the HGNC.	BMS1 ribosome biogenesis factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BMS1
Synonyms (NCBI Gene) Gene synonyms aliases	ACC, BMS1L
Disease Acronyms (UniProt) Disease acronyms from UniProt database	ACC
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q11.21
Summary Summary of gene provided in NCBI Entrez Gene.	This gene likely encodes a ribosome assembly protein. A similar protein in yeast functions in 35S-rRNA processing, which includes a series of cleavage steps critical for formation of 40S ribosomes. Related pseudogenes exist on chromosomes 2, 9, 10, 15, 16

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SNP ID	Visualize variation	Clinical significance	Consequence
rs587777706	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT028582	hsa-miR-30a-5p	Proteomics	18668040
MIRT031746	hsa-miR-16-5p	Proteomics	18668040
MIRT042134	hsa-miR-484	CLASH	23622248
MIRT036128	hsa-miR-1296-5p	CLASH	23622248
MIRT635327	hsa-miR-2681-3p	HITS-CLIP	23824327
MIRT635326	hsa-miR-96-3p	HITS-CLIP	23824327
MIRT635325	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT635324	hsa-miR-3135b	HITS-CLIP	23824327
MIRT635323	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT635322	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT635321	hsa-miR-3652	HITS-CLIP	23824327
MIRT635320	hsa-miR-4430	HITS-CLIP	23824327
MIRT635319	hsa-miR-3907	HITS-CLIP	23824327
MIRT635318	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT635317	hsa-miR-5698	HITS-CLIP	23824327
MIRT635327	hsa-miR-2681-3p	HITS-CLIP	23824327
MIRT635326	hsa-miR-96-3p	HITS-CLIP	23824327
MIRT635325	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT635324	hsa-miR-3135b	HITS-CLIP	23824327
MIRT635323	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT635322	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT635321	hsa-miR-3652	HITS-CLIP	23824327
MIRT635320	hsa-miR-4430	HITS-CLIP	23824327
MIRT635319	hsa-miR-3907	HITS-CLIP	23824327
MIRT635318	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT635317	hsa-miR-5698	HITS-CLIP	23824327
MIRT528253	hsa-miR-511-3p	PAR-CLIP	22012620
MIRT528252	hsa-miR-4793-5p	PAR-CLIP	22012620
MIRT528251	hsa-miR-219b-5p	PAR-CLIP	22012620
MIRT528250	hsa-miR-508-3p	PAR-CLIP	22012620
MIRT528249	hsa-miR-219a-5p	PAR-CLIP	22012620
MIRT528248	hsa-miR-4782-3p	PAR-CLIP	22012620
MIRT528247	hsa-miR-6766-3p	PAR-CLIP	22012620
MIRT528246	hsa-miR-4445-5p	PAR-CLIP	22012620
MIRT528245	hsa-miR-505-3p	PAR-CLIP	22012620
MIRT635327	hsa-miR-2681-3p	HITS-CLIP	23824327
MIRT635326	hsa-miR-96-3p	HITS-CLIP	23824327
MIRT635325	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT635324	hsa-miR-3135b	HITS-CLIP	23824327
MIRT635323	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT635322	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT635321	hsa-miR-3652	HITS-CLIP	23824327
MIRT635320	hsa-miR-4430	HITS-CLIP	23824327
MIRT635319	hsa-miR-3907	HITS-CLIP	23824327
MIRT635318	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT635317	hsa-miR-5698	HITS-CLIP	23824327
MIRT635327	hsa-miR-2681-3p	HITS-CLIP	23824327
MIRT635326	hsa-miR-96-3p	HITS-CLIP	23824327
MIRT635325	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT635324	hsa-miR-3135b	HITS-CLIP	23824327
MIRT635323	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT635322	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT635321	hsa-miR-3652	HITS-CLIP	23824327
MIRT635320	hsa-miR-4430	HITS-CLIP	23824327
MIRT635319	hsa-miR-3907	HITS-CLIP	23824327
MIRT635318	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT635317	hsa-miR-5698	HITS-CLIP	23824327
MIRT528253	hsa-miR-511-3p	PAR-CLIP	22012620
MIRT528252	hsa-miR-4793-5p	PAR-CLIP	22012620
MIRT528251	hsa-miR-219b-5p	PAR-CLIP	22012620
MIRT528250	hsa-miR-508-3p	PAR-CLIP	22012620
MIRT528249	hsa-miR-219a-5p	PAR-CLIP	22012620
MIRT528248	hsa-miR-4782-3p	PAR-CLIP	22012620
MIRT528247	hsa-miR-6766-3p	PAR-CLIP	22012620
MIRT528246	hsa-miR-4445-5p	PAR-CLIP	22012620
MIRT528245	hsa-miR-505-3p	PAR-CLIP	22012620
MIRT823160	hsa-miR-1	CLIP-seq
MIRT823161	hsa-miR-1184	CLIP-seq
MIRT823162	hsa-miR-1207-3p	CLIP-seq
MIRT823163	hsa-miR-1264	CLIP-seq
MIRT823164	hsa-miR-1272	CLIP-seq
MIRT823165	hsa-miR-1322	CLIP-seq
MIRT823166	hsa-miR-150	CLIP-seq
MIRT823167	hsa-miR-1827	CLIP-seq
MIRT823168	hsa-miR-206	CLIP-seq
MIRT823169	hsa-miR-216a	CLIP-seq
MIRT823170	hsa-miR-216b	CLIP-seq
MIRT823171	hsa-miR-219-5p	CLIP-seq
MIRT823172	hsa-miR-24	CLIP-seq
MIRT823173	hsa-miR-2467-3p	CLIP-seq
MIRT823174	hsa-miR-28-3p	CLIP-seq
MIRT823175	hsa-miR-296-5p	CLIP-seq
MIRT823176	hsa-miR-3123	CLIP-seq
MIRT823177	hsa-miR-3125	CLIP-seq
MIRT823178	hsa-miR-3130-5p	CLIP-seq
MIRT823179	hsa-miR-3152-3p	CLIP-seq
MIRT823180	hsa-miR-3159	CLIP-seq
MIRT823181	hsa-miR-3163	CLIP-seq
MIRT823182	hsa-miR-320a	CLIP-seq
MIRT823183	hsa-miR-320b	CLIP-seq
MIRT823184	hsa-miR-320c	CLIP-seq
MIRT823185	hsa-miR-320d	CLIP-seq
MIRT823186	hsa-miR-340	CLIP-seq
MIRT823187	hsa-miR-3616-5p	CLIP-seq
MIRT823188	hsa-miR-3622b-5p	CLIP-seq
MIRT823189	hsa-miR-3647-5p	CLIP-seq
MIRT823190	hsa-miR-3673	CLIP-seq
MIRT823191	hsa-miR-3916	CLIP-seq
MIRT823192	hsa-miR-3941	CLIP-seq
MIRT823193	hsa-miR-425	CLIP-seq
MIRT823194	hsa-miR-4255	CLIP-seq
MIRT823195	hsa-miR-4257	CLIP-seq
MIRT823196	hsa-miR-4284	CLIP-seq
MIRT823197	hsa-miR-4310	CLIP-seq
MIRT823198	hsa-miR-433	CLIP-seq
MIRT823199	hsa-miR-4418	CLIP-seq
MIRT823200	hsa-miR-4429	CLIP-seq
MIRT823201	hsa-miR-4445	CLIP-seq
MIRT823202	hsa-miR-4482	CLIP-seq
MIRT823203	hsa-miR-4509	CLIP-seq
MIRT823204	hsa-miR-4514	CLIP-seq
MIRT823205	hsa-miR-4530	CLIP-seq
MIRT823206	hsa-miR-4639-3p	CLIP-seq
MIRT823207	hsa-miR-466	CLIP-seq
MIRT823208	hsa-miR-4672	CLIP-seq
MIRT823209	hsa-miR-4692	CLIP-seq
MIRT823210	hsa-miR-4714-3p	CLIP-seq
MIRT823211	hsa-miR-4719	CLIP-seq
MIRT823212	hsa-miR-4731-3p	CLIP-seq
MIRT823213	hsa-miR-4744	CLIP-seq
MIRT823214	hsa-miR-4760-3p	CLIP-seq
MIRT823215	hsa-miR-4777-3p	CLIP-seq
MIRT823216	hsa-miR-4795-5p	CLIP-seq
MIRT823217	hsa-miR-4801	CLIP-seq
MIRT823218	hsa-miR-509-3-5p	CLIP-seq
MIRT823219	hsa-miR-509-5p	CLIP-seq
MIRT823220	hsa-miR-548a-5p	CLIP-seq
MIRT823221	hsa-miR-548ab	CLIP-seq
MIRT823222	hsa-miR-548ak	CLIP-seq
MIRT823223	hsa-miR-548b-5p	CLIP-seq
MIRT823224	hsa-miR-548c-3p	CLIP-seq
MIRT823225	hsa-miR-548c-5p	CLIP-seq
MIRT823226	hsa-miR-548d-5p	CLIP-seq
MIRT823227	hsa-miR-548h	CLIP-seq
MIRT823228	hsa-miR-548i	CLIP-seq
MIRT823229	hsa-miR-548j	CLIP-seq
MIRT823230	hsa-miR-548w	CLIP-seq
MIRT823231	hsa-miR-548y	CLIP-seq
MIRT823232	hsa-miR-552	CLIP-seq
MIRT823233	hsa-miR-559	CLIP-seq
MIRT823234	hsa-miR-573	CLIP-seq
MIRT823235	hsa-miR-580	CLIP-seq
MIRT823236	hsa-miR-592	CLIP-seq
MIRT823237	hsa-miR-597	CLIP-seq
MIRT823238	hsa-miR-613	CLIP-seq
MIRT823239	hsa-miR-642b	CLIP-seq
MIRT823240	hsa-miR-646	CLIP-seq
MIRT823241	hsa-miR-668	CLIP-seq
MIRT823242	hsa-miR-892a	CLIP-seq
MIRT823243	hsa-miR-940	CLIP-seq
MIRT823161	hsa-miR-1184	CLIP-seq
MIRT1943397	hsa-miR-1208	CLIP-seq
MIRT1943398	hsa-miR-122	CLIP-seq
MIRT1943399	hsa-miR-1245	CLIP-seq
MIRT1943400	hsa-miR-1343	CLIP-seq
MIRT823166	hsa-miR-150	CLIP-seq
MIRT1943401	hsa-miR-2392	CLIP-seq
MIRT823172	hsa-miR-24	CLIP-seq
MIRT1943402	hsa-miR-2681	CLIP-seq
MIRT823179	hsa-miR-3152-3p	CLIP-seq
MIRT1943403	hsa-miR-371-5p	CLIP-seq
MIRT823192	hsa-miR-3941	CLIP-seq
MIRT823196	hsa-miR-4284	CLIP-seq
MIRT1943404	hsa-miR-431	CLIP-seq
MIRT1943405	hsa-miR-4330	CLIP-seq
MIRT823199	hsa-miR-4418	CLIP-seq
MIRT1943406	hsa-miR-4464	CLIP-seq
MIRT823206	hsa-miR-4639-3p	CLIP-seq
MIRT823207	hsa-miR-466	CLIP-seq
MIRT823208	hsa-miR-4672	CLIP-seq
MIRT1943407	hsa-miR-4704-3p	CLIP-seq
MIRT823210	hsa-miR-4714-3p	CLIP-seq
MIRT1943408	hsa-miR-4726-3p	CLIP-seq
MIRT1943409	hsa-miR-4748	CLIP-seq
MIRT823218	hsa-miR-509-3-5p	CLIP-seq
MIRT823219	hsa-miR-509-5p	CLIP-seq
MIRT823242	hsa-miR-892a	CLIP-seq
MIRT2182046	hsa-miR-106a	CLIP-seq
MIRT2182047	hsa-miR-106b	CLIP-seq
MIRT823161	hsa-miR-1184	CLIP-seq
MIRT823162	hsa-miR-1207-3p	CLIP-seq
MIRT1943398	hsa-miR-122	CLIP-seq
MIRT823163	hsa-miR-1264	CLIP-seq
MIRT1943400	hsa-miR-1343	CLIP-seq
MIRT2182048	hsa-miR-140-3p	CLIP-seq
MIRT823166	hsa-miR-150	CLIP-seq
MIRT2182049	hsa-miR-17	CLIP-seq
MIRT823167	hsa-miR-1827	CLIP-seq
MIRT2182050	hsa-miR-1976	CLIP-seq
MIRT2182051	hsa-miR-20a	CLIP-seq
MIRT2182052	hsa-miR-20b	CLIP-seq
MIRT823169	hsa-miR-216a	CLIP-seq
MIRT823170	hsa-miR-216b	CLIP-seq
MIRT1943401	hsa-miR-2392	CLIP-seq
MIRT823172	hsa-miR-24	CLIP-seq
MIRT823173	hsa-miR-2467-3p	CLIP-seq
MIRT1943402	hsa-miR-2681	CLIP-seq
MIRT823176	hsa-miR-3123	CLIP-seq
MIRT823177	hsa-miR-3125	CLIP-seq
MIRT823179	hsa-miR-3152-3p	CLIP-seq
MIRT823182	hsa-miR-320a	CLIP-seq
MIRT823183	hsa-miR-320b	CLIP-seq
MIRT823184	hsa-miR-320c	CLIP-seq
MIRT823185	hsa-miR-320d	CLIP-seq
MIRT2182053	hsa-miR-324-5p	CLIP-seq
MIRT823191	hsa-miR-3916	CLIP-seq
MIRT2182054	hsa-miR-3934	CLIP-seq
MIRT823194	hsa-miR-4255	CLIP-seq
MIRT2182055	hsa-miR-4269	CLIP-seq
MIRT823196	hsa-miR-4284	CLIP-seq
MIRT823199	hsa-miR-4418	CLIP-seq
MIRT823200	hsa-miR-4429	CLIP-seq
MIRT823203	hsa-miR-4509	CLIP-seq
MIRT823204	hsa-miR-4514	CLIP-seq
MIRT2182056	hsa-miR-4649-3p	CLIP-seq
MIRT823209	hsa-miR-4692	CLIP-seq
MIRT1943407	hsa-miR-4704-3p	CLIP-seq
MIRT823210	hsa-miR-4714-3p	CLIP-seq
MIRT2182057	hsa-miR-4722-3p	CLIP-seq
MIRT2182058	hsa-miR-4733-5p	CLIP-seq
MIRT823213	hsa-miR-4744	CLIP-seq
MIRT2182059	hsa-miR-499-3p	CLIP-seq
MIRT2182060	hsa-miR-499a-3p	CLIP-seq
MIRT823218	hsa-miR-509-3-5p	CLIP-seq
MIRT823219	hsa-miR-509-5p	CLIP-seq
MIRT2182061	hsa-miR-519d	CLIP-seq
MIRT2182062	hsa-miR-520g	CLIP-seq
MIRT2182063	hsa-miR-520h	CLIP-seq
MIRT823220	hsa-miR-548a-5p	CLIP-seq
MIRT823221	hsa-miR-548ab	CLIP-seq
MIRT823222	hsa-miR-548ak	CLIP-seq
MIRT823223	hsa-miR-548b-5p	CLIP-seq
MIRT823225	hsa-miR-548c-5p	CLIP-seq
MIRT823226	hsa-miR-548d-5p	CLIP-seq
MIRT823227	hsa-miR-548h	CLIP-seq
MIRT823228	hsa-miR-548i	CLIP-seq
MIRT823229	hsa-miR-548j	CLIP-seq
MIRT823230	hsa-miR-548w	CLIP-seq
MIRT823231	hsa-miR-548y	CLIP-seq
MIRT823232	hsa-miR-552	CLIP-seq
MIRT823233	hsa-miR-559	CLIP-seq
MIRT823235	hsa-miR-580	CLIP-seq
MIRT823240	hsa-miR-646	CLIP-seq
MIRT823242	hsa-miR-892a	CLIP-seq
MIRT2182064	hsa-miR-93	CLIP-seq
MIRT823243	hsa-miR-940	CLIP-seq
MIRT823161	hsa-miR-1184	CLIP-seq
MIRT2384836	hsa-miR-1205	CLIP-seq
MIRT823164	hsa-miR-1272	CLIP-seq
MIRT823165	hsa-miR-1322	CLIP-seq
MIRT2182050	hsa-miR-1976	CLIP-seq
MIRT823172	hsa-miR-24	CLIP-seq
MIRT1943402	hsa-miR-2681	CLIP-seq
MIRT823179	hsa-miR-3152-3p	CLIP-seq
MIRT823192	hsa-miR-3941	CLIP-seq
MIRT2182055	hsa-miR-4269	CLIP-seq
MIRT823196	hsa-miR-4284	CLIP-seq
MIRT823199	hsa-miR-4418	CLIP-seq
MIRT823206	hsa-miR-4639-3p	CLIP-seq
MIRT823207	hsa-miR-466	CLIP-seq
MIRT823208	hsa-miR-4672	CLIP-seq
MIRT823212	hsa-miR-4731-3p	CLIP-seq
MIRT823217	hsa-miR-4801	CLIP-seq
MIRT823218	hsa-miR-509-3-5p	CLIP-seq
MIRT823219	hsa-miR-509-5p	CLIP-seq
MIRT823241	hsa-miR-668	CLIP-seq
MIRT823242	hsa-miR-892a	CLIP-seq
MIRT2485566	hsa-miR-1182	CLIP-seq
MIRT823161	hsa-miR-1184	CLIP-seq
MIRT1943398	hsa-miR-122	CLIP-seq
MIRT2182048	hsa-miR-140-3p	CLIP-seq
MIRT2485567	hsa-miR-146b-3p	CLIP-seq
MIRT823167	hsa-miR-1827	CLIP-seq
MIRT2485568	hsa-miR-193a-5p	CLIP-seq
MIRT823172	hsa-miR-24	CLIP-seq
MIRT823173	hsa-miR-2467-3p	CLIP-seq
MIRT1943402	hsa-miR-2681	CLIP-seq
MIRT823176	hsa-miR-3123	CLIP-seq
MIRT823177	hsa-miR-3125	CLIP-seq
MIRT823178	hsa-miR-3130-5p	CLIP-seq
MIRT2485569	hsa-miR-3157-3p	CLIP-seq
MIRT2485570	hsa-miR-3173-5p	CLIP-seq
MIRT2485571	hsa-miR-339-5p	CLIP-seq
MIRT2485572	hsa-miR-3691-3p	CLIP-seq
MIRT823191	hsa-miR-3916	CLIP-seq
MIRT823196	hsa-miR-4284	CLIP-seq
MIRT1943404	hsa-miR-431	CLIP-seq
MIRT2485573	hsa-miR-4323	CLIP-seq
MIRT823199	hsa-miR-4418	CLIP-seq
MIRT823202	hsa-miR-4482	CLIP-seq
MIRT823204	hsa-miR-4514	CLIP-seq
MIRT823205	hsa-miR-4530	CLIP-seq
MIRT823209	hsa-miR-4692	CLIP-seq
MIRT2485574	hsa-miR-494	CLIP-seq
MIRT2182059	hsa-miR-499-3p	CLIP-seq
MIRT2182060	hsa-miR-499a-3p	CLIP-seq
MIRT823218	hsa-miR-509-3-5p	CLIP-seq
MIRT823219	hsa-miR-509-5p	CLIP-seq
MIRT823220	hsa-miR-548a-5p	CLIP-seq
MIRT823221	hsa-miR-548ab	CLIP-seq
MIRT823222	hsa-miR-548ak	CLIP-seq
MIRT823223	hsa-miR-548b-5p	CLIP-seq
MIRT823225	hsa-miR-548c-5p	CLIP-seq
MIRT823226	hsa-miR-548d-5p	CLIP-seq
MIRT823227	hsa-miR-548h	CLIP-seq
MIRT823228	hsa-miR-548i	CLIP-seq
MIRT823229	hsa-miR-548j	CLIP-seq
MIRT823230	hsa-miR-548w	CLIP-seq
MIRT823231	hsa-miR-548y	CLIP-seq
MIRT823233	hsa-miR-559	CLIP-seq
MIRT823235	hsa-miR-580	CLIP-seq
MIRT2485575	hsa-miR-874	CLIP-seq
MIRT823243	hsa-miR-940	CLIP-seq
MIRT823161	hsa-miR-1184	CLIP-seq
MIRT2182048	hsa-miR-140-3p	CLIP-seq
MIRT823167	hsa-miR-1827	CLIP-seq
MIRT823172	hsa-miR-24	CLIP-seq
MIRT823173	hsa-miR-2467-3p	CLIP-seq
MIRT1943402	hsa-miR-2681	CLIP-seq
MIRT823176	hsa-miR-3123	CLIP-seq
MIRT823177	hsa-miR-3125	CLIP-seq
MIRT823191	hsa-miR-3916	CLIP-seq
MIRT823196	hsa-miR-4284	CLIP-seq
MIRT2485573	hsa-miR-4323	CLIP-seq
MIRT823199	hsa-miR-4418	CLIP-seq
MIRT823204	hsa-miR-4514	CLIP-seq
MIRT823209	hsa-miR-4692	CLIP-seq
MIRT2182059	hsa-miR-499-3p	CLIP-seq
MIRT2182060	hsa-miR-499a-3p	CLIP-seq
MIRT823218	hsa-miR-509-3-5p	CLIP-seq
MIRT823219	hsa-miR-509-5p	CLIP-seq
MIRT823220	hsa-miR-548a-5p	CLIP-seq
MIRT823221	hsa-miR-548ab	CLIP-seq
MIRT823222	hsa-miR-548ak	CLIP-seq
MIRT823223	hsa-miR-548b-5p	CLIP-seq
MIRT823225	hsa-miR-548c-5p	CLIP-seq
MIRT823226	hsa-miR-548d-5p	CLIP-seq
MIRT823227	hsa-miR-548h	CLIP-seq
MIRT823228	hsa-miR-548i	CLIP-seq
MIRT823229	hsa-miR-548j	CLIP-seq
MIRT823230	hsa-miR-548w	CLIP-seq
MIRT823231	hsa-miR-548y	CLIP-seq
MIRT823233	hsa-miR-559	CLIP-seq
MIRT823243	hsa-miR-940	CLIP-seq

Show/Hide all(14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000462	Process	Maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA	21873635
GO:0000479	Process	Endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA	21873635
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003924	Function	GTPase activity	IBA	21873635
GO:0005524	Function	ATP binding	IEA
GO:0005525	Function	GTP binding	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005730	Component	Nucleolus	ISS
GO:0006364	Process	RRNA processing	TAS
GO:0030686	Component	90S preribosome	IBA	21873635
GO:0034511	Function	U3 snoRNA binding	IBA	21873635

MIM	HGNC	e!Ensembl
611448	23505	ENSG00000165733

Protein

UniProt ID

Q14692

Protein name

Ribosome biogenesis protein BMS1 homolog (EC 3.6.5.-) (Ribosome assembly protein BMS1 homolog)

Protein function

GTPase required for the synthesis of 40S ribosomal subunits and for processing of pre-ribosomal RNA (pre-rRNA) at sites A0, A1, and A2. Controls access of pre-rRNA intermediates to RCL1 during ribosome biogenesis by binding RCL1 in a GTP-depende

PDB

7MQ9 , 7MQA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08142	AARP2CN	231 → 316	AARP2CN (NUC121) domain	Domain
PF04950	RIBIOP_C	814 → 1106	40S ribosome biogenesis protein Tsr1 and BMS1 C-terminal	Family

Sequence

MEAKDQKKHRKKNSGPKAAKKKKRLLQDLQLGDEEDARKRNPKAFAVQSAVRMARSFHRT
QDLKTKKHHIPVVDRTPLEPPPIVVVVMGPPKVGKSTLIQCLIRNFTRQKLTEIRGPVTI
VSGKKRRLTIIECGCDINMMIDLAKVADLVLMLIDASFGFEMETFEFLNICQVHGFPKIM
GVLTHLDSFKHNKQLKKTKKRLKHRFWTEVYPGAKLFYLSGMVHGEYQNQEIHNLGRFIT
VMKFRPLTWQTSHPYILADRMEDLTNPEDIRTNIKCDRKVSLYGYLRGAHLKNKSQIHMP
GVGDFAVSDISFLPDPCALPEQQKKRCLNEKEKLVYAPLSGVGGVLYDKDAVYVDLGGSH
VFQDEVGPTHELVQSLISTHSTIDAKMASSRVTLFSDSKPLGSEDIDNQGLMMPKEEKQM
DLNTGRMRRKAIFGDEDESGDSDDEEDDEMSEDDGLENGSSDEEAEEEENAEMTDQYMAV
KGIKRRKLELEEDSEMDLPAFADSDDDLERSSAEEGEAEEADESSEEEDCTAGEKGISGS
KAAGEGSKAGLSPANCQSDRVNLEKSLLMKKAALPTFDSGHCTAEEVFASEDESEESSSL
SAEEEDSENEEAIRKKLSKPSQVSSGQKLGPQNFIDETSDIENLLKEEEDYKEENNDSKE
TSGALKWKEDLSRKAAEAFLRQQQAAPNLRKLIYGTVTEDNEEEDDDTLEELGGLFRVNQ
PDRECKHKADSLDCSRFLVEAPHDWDLEEVMNSIRDCFVTGKWEDDKDAAKVLAEDEELY
GDFEDLETGDVHKGKSGPNTQNEDIEKEVKEEIDPDEEESAKKKHLDKKRKLKEMFDAEY
DEGESTYFDDLKGEMQKQAQLNRAEFEDQDDEARVQYEGFRPGMYVRIEIENVPCEFVQN
FDPHYPIILGGLGNSEGNVGYVQMRLKKHRWYKKILKSRDPIIFSVGWRRFQTIPLYYIE
DHNGRQRLLKYTPQHMHCGAAFWGPITPQGTGFLAIQSVSGIMPDFRIAATGVVLDLDKS
IKIVKKLKLTGFPYKIFKNTSFIKGMFNSALEVAKFEGAVIRTVSGIRGQIKKALRAPEG
AFRASFEDKLLMSDIVFMRTWYPVSIPAFYNPVTSLLKPVGEKDTWSGMRTTGQLRLAHG
VRLKANKDSLYKPILRQKKHFNSLHIPKALQKALPFKNKPKTQAKAGKVPKDRRRPAVIR
EPHERKILALLDALSTVHSQKMKKAKEQRHLHNKEHFRAKQKEEEEKLKRQKDLRKKLFR
IQGQKERRNQKSSLKGAEGQLQ

Sequence length

1282

Interactions

View interactions

	KEGG		Reactome
	Ribosome biogenesis in eukaryotes		Major pathway of rRNA processing in the nucleolus and cytosol

Show/Hide Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
Aplasia cutis congenita	Aplasia Cutis Congenita, Aplasia cutis congenita over the scalp vertex, Aplasia cutis congenita	rs587777706	23785305
Ectodermal dysplasia	Ectodermal Dysplasia	rs74315309, rs121908116, rs1558814967, rs121908450, rs121908452, rs121908453, rs797044435, rs121908454, rs121908455, rs121908456, rs797044436, rs797044437, rs137853324, rs137853325, rs137853326 View all (42 more)
Hypohidrotic ectodermal dysplasia	Anhydrotic Ectodermal Dysplasias	rs104894415, rs28937872, rs104894416

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Progressive Supranuclear Palsy	Progressive Supranuclear Palsy			GWAS

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text Mining
Leukemia Myeloid Acute	Associate	35859008
Renal Insufficiency Chronic	Associate	35571562

BMS1 (BMS1 ribosome biogenesis factor)